Wednesday, December 29, 2010

quick breakdown

Rough night (for me)....I just put Ryder to bed. I just stare at my cute little guy and he seems so perfect. I pray that I am just exaggerating all of this!!! It's one of those nights that I just can't deal with reality so I'm hoping to escape it!

Sunday, December 26, 2010

Recent update-been awhile!

Sorry it has been so long since the last update! We are still adjusting and unpacking since the move:) It has been working out pretty nicely since moving in with my Mom. It's crowded and the boys are having a hard time falling asleep with all the commotion and new enviroment, but overall, we are happy and lucky to be here;) Besides the fact that I almost set a fire the 2nd week of living here cooking dinner (ugh), Mom seems okay with us being here too!
We have been so very blessed this Christmas!!! The boys had the best Christmas ever!!! We are so very grateful to the many friends and family that made our holidays extra merry:) I want to give a huge thanks to The Toybox (Santa), The Breast Cancer Society Inc. Jason & family, The Bunco Babes, Kate & family, Cassidy, Grandma, Auntie Jen & Mike, Gramma & Grandpa in AK, and Rachel (old friend from Seton who collected a lot for us:) Auntie Jen had us over for an amazing brunch then we had a yummy dinner with family (and Carrie/Bill & kids who are part of our family:)
All the boys were absolutely spoiled this year!!!!! Highlight presents include Ty: Fur Real puppy, Noah: Criss Cross Crash, Ryder: 1st Harley Davidson motorcycle and all the boys got 2 awesome train sets that they are enjoying:) We were delighted to see the boys so happy and appreciative:)
My favorite gift this year arrived on Wednesday night. Dr. Hopsin called me from Delaware (From PMD foundation) He told me that the lab his wife is director of will most likely pick up the cost of Ryder's testing, but if they don't, he and his wife will personally pick up the cost:)!!!!!!! I have been on cloud nine since this news:)
I sent an article to all the congresspeople, news, newspapers, and every organization I could think of for help. I've also sent a message to carpet places for possible donations. My Mom has concrete flooring throughout most her house and Ryder is having a hard time trying to balance and getting lots of bruises on his head in the process!
We got a response from Gov. Jan Brewer who is willing to help with AHCCCS (still trying to get) and Baker Bros possibly helping with carpeting.
Ryder was picked up by DDD. He will be receiving physical therapy, speech therapy, feeding therapy, occupational therapy and DSI therapy in-home. He is in the process of qualifying for long term health care, respite and SSI. It has been a long process with a lot of paperwork and phone calls!
Upcoming appointments include: Tuesday (12/28) Dr. Jones-15mo check up and follow up on ear infection, Feb. GI appointment and Feb 28th Dr Bodensteiner-neuro appointment. I'll call tomorrow to get testing ordered for PMD/gentetic screening that the researchers in Delaware will pay for.

Ryder has been getting all of his molars in at the same time!!! He has been up and down fussy, restless, sleepy and happy all mixed up:) He seems to be eating pretty well lately and definently has a sweet tooth! He has gained 1 lb 8 oz in the last 2 months. He is cruising the couch and attempting to balance a little more each day. He is saying ah,ah and pointing alot. He will sometimes imitate dada, baba and mama, but not purposefully. He is sooo very adorable and amazing. I love spending every day with him:)
Ryder's 1st Harley! Great for balancing practice:)
ASU baby on his pet pillow
My sissy's funny present reminding me to use baking soda for grease fires--that I recently set!

Opening Ryder's stocking--we can never have enough binkies!!!!

Saturday, December 4, 2010

Ryder’s Story from a Mom who WILL move mountains to help him

Hi,
I wrote this letter in hopes to pass it along to as many people as possible. I am determined to find any help for Ryder and spread awareness about Leukodystrophy! I will be sending this to newspapers, news channels, congress, and every organization I can think of. Please pass it along if you know of anyone that can help us.

Thanks,
Denise Hauer


 Ryder’s Story from a Mom who WILL move mountains to help him
Our 15 month old son Ryder is a blessed addition to our family. I went through many surgeries since 2008 and was finally told I needed a hysterectomy. My husband and I had two amazing sons already, but knew we wanted one more to complete our family before my hysterectomy. Ryder Cash Hauer was born on September 5, 2009. Immediately, we fell in love with this handsome 9 pounder!  He entered the world without a peep, but was content to observe his surroundings. Doctors and nurses rushed to check him out and were bewildered that he wouldn’t make any noise or protest to their poking and prodding. Thankfully though, other than slight jaundice, he seemed to be in good health and was just a “quiet baby with nothing to say!”
For the first few months of life Ryder was very fussy and vomited a lot. His pediatrician thought he was lactose intolerant. I changed my diet so that I could continue to breast feed him, avoiding any dairy/soy products. This lasted a few months until the diet became very difficult. Ryder was placed on Alimentum formula. It seemed to help with the vomiting and fussiness.
At Ryder’s 5 month check up his pediatrician noticed nystagmus (an involuntary flutter of his eyes). This is the beginning of our whirl-wind story. We were referred to an ophthalmologist to check his eyes. That doctor requested an MRI to find the cause of the nystagmus, but stated his vision was perfect. The MRI indicated abnormal white brain matter and some swelling of the brain. This was a devastating shock to us! We immediately brought Ryder to a pediatric neurologist.  The radiologist who interpreted his MRI, pediatrician and the neurologist informed us that Ryder had Leukodystrophy. The process of testing and getting results was complicated and it took me many phone calls, repeated labs due to mistakes, misinformation, lack of communication, heartache and A LOT of waiting around! I try to stay positive and solution focused so I will not dwell on that now. However, I mention it because this matter needs to be addressed for parents in my shoes seeking input and understanding.
The neurologist ordered many labs and was thorough in what he tested for. Thankfully, three very progressive leukodystrophies came back negative including Krabbe and metachromatic leukodystrophy. However, several labs came back abnormal. Ryder had extremely high Vitamin B12 (1190), ALT (55), Alpha-tocopherol (12), OH-Butyrylcarnitine, C4OH (.21), C5DC (.04), C8DC (.03) and low Carnitine (29). We were then sent to a Genetic /Metabolic Specialist. This doctor reordered a lab to test Ryder’s ALT level (liver enzymes) since the first test was high. He also recommended a chromosome microanalysis to look for small deletions or duplications of his chromosomal material and to be tested for Pelizaeus-Merzbacher disease (a form of leukodystrophy).
Meanwhile, I noticed that Ryder was having absent gazes. I have taught children with special needs for the past 11 years and have learned to identify absent seizures in a few of my students. One day it just clicked in my mind that Ryder was having absent seizures. They are easy to miss. He would be playing and interacting with me and then BAM! he stared off for 10-15 seconds and I couldn’t get his attention. I’d snap, shake him (not hardJ), yell, but nothing.  After calling several of his doctors, I was able to get an appointment for an EEG. The EEG indicated abnormal brain activity so we were sent to the Phoenix Children’s Hospital for a 3-day EEG study.
From there we had the EEG study, a second MRI, and liver enzyme (ALT) lab. This EEG didn’t show any seizure activity, but that is another long story! His MRI showed no progression to demyelination (the loss of white brain matter), which was the best news we could hope for!!! His ALT lab came back even more elevated at 69 and his AST level is 105. Now we will see a pediatric gastroenterologist to find out what’s going on with his liver.
To date Ryder has an undiagnosed form of leukodystrophy. He has nystagmus. He has developmental delays; has unsteady balance and cannot stand or walk yet. He lacks muscle control and has a slight twitch in his upper body. He is behind in speech; sleeps about 17 hours a day; is a picky eater; and is underweight for his age.
He also is the most delightful little guy to be around! Besides being absolutely cute, he has the best smile, loves to snuggle and is a very happy little guy! His mom, dad and two brothers absolutely adore him along with his extended family and friends. He is mellow, content and enjoys hanging out with his brothers. He loves being outdoors swinging or going down the slide. He sure does know how to melt hearts!
 I took an unpaid, long term leave from my teaching position to help Ryder. In effect, I lost my insurance coverage, we had to pull our 5 year old out of preschool, we lost our house (luckily were able to move in with my wonderful, supportive Mom), lost a vehicle due to engine failure (but my Mom is an angel and is donating a vehicle for us to use), and we are piling on medical debt quickly. We have learned valuable lessons along the way.
We could care less about “stuff.” It was actually nice to get rid of most of our stuff we worked hard to acquire over the years to move in with my Mom! It felt like we decluttered our lives. We have been reminded that family and friends are what matter most. We have had tremendous support and we can’t wait to “pay it forward” when we are in the position to do so someday. We love our boys, are very blessed in our lives and wouldn’t change a thing.
We are currently facing road blocks trying to help our son and are asking for help to overcome these challenges.  Ryder’s insurance will not cover two very important tests that Ryder needs. These tests include a chromosome microanalysis to look for small deletions or duplications of his chromosomal material and to be tested for Pelizaeus-Merzbacher disease (a form of leukodystrophy). The PMD test has been recommended by two doctors, plus I feel it is the closest diagnosis for his symptoms. The insurance company feels that if Ryder gets these tests it won’t change the outcome for him. My view is that I’ve worked with children who have autism for over 12 years. When I started, 1 in 10,000 kids where diagnosed. Now it is 1 in 110 and most people are aware of autism. What if people said autism or cancer couldn’t be cured so why bother with a diagnosis? Well, how can we research and find treatments for what we don’t know or understand? I want leukodystrophy to be understood and fought. My son needs rare genetic tests to find out which form of leukodystrophy he has. I need help to fund this testing. I may not have money to pay for these tests, but I have wisdom, understanding, determination and compassion to exchange to others in need as well.

You can follow Ryder’s story at rydersjourney2009.blogspot.com Thanks you for your interest in our baby’s story.
Much Love and Hope,
Denise, Les, Tyler, Noah and Ryder Hauer











Tuesday, November 30, 2010

Quick update

quick update:

We are in the process of moving into my Mom's house. We got a knock on the door 12 days ago saying we needed to be out of our house in 2 weeks! We have been busy and only have 2 days left to have the house cleaned out! We've sold almost everything and only are bringing the necessities to my Moms. We'll be here for awhile. Our plan right now is for me to complete the nursing program (16mos.) I should be excepted into the program this next semester. It was 1 1/2 yr waiting list. After that we plan on moving to Alaska. It will be a fresh start for us and we'll be closer to Les' family:)

I just got Ryder's 2nd liver enzyme test back today and they are still elevated. They are even more elevated than a few months ago--which is not good news. We need to go to a GI doctor next.

I have been hassling w/insurance company and they refuse to pay for genetic testing still. I understand their reasoning, but it still stinks! A close family friend just gave us a lot of money. On top of that, another friend raised money through a Tupperware fundraiser for us. I am most likely going to use this money and pay for the test out of pocket. I'm going back and forth with this though right now. It's a lot of money and would only rule out 1 form of luekodystrophy. On the other hand, 2 doctors have recommended this test and I feel this is the closest diagnosis it could be. Determining the diagnosis won't change the outcome, but research is being done on this particular form now. Any suggestions/ ideas? I wonder is I can contact congress for these tests to be paid for? It's worth a try---maybe do that tomorrow:)

Well back to unpacking!!! More updates later:)

Friday, November 12, 2010

LONGGGGG updated post:)

Hospital stay: Ryder smooching his nose in the crib against the glass:) This provided a good half hour of entertainment (for me at least:)
Poor guy could hardly balance with all that on his head! He was a trooper though. He had about 5 feet around his crib that he could play, but always had to face the camera. Explain that to a 1 year old!!! (and for 34 hrs straight w/light always on!)

Where to begin?? I'm going to try to make this short and to the point since a lot has happened since the last blog.

EEG/ Hospital stay: MISERABLE!!!! Wow was that no fun. Ryder had tons of wires connected to his head wrapped in a big thing of gauze. He had about 5 feet around the outside of his crib to move. The lights had to stay on day and night so the video could monitor him. He slept a total of 3 hr. and 45 mins. all day and night (Usually he sleeps 17 hours a day). If you know me well--I am cranky without sleep!!!! Anyways they told me to push a button if he was having a blank gaze..even if I wasn't sure that's what it was. I pushed the button 6 times..really not thinking they were anything...but wanted to check (we were both exhausted!). I expected the doctor to come in to talk with me about 9am. The nurse had mentioned we would be discharged later that day. At first I thought they got everything they needed since we were supposed to stay 3 nights. I called our neurologist and asked them if Ryder could get his 2nd MRI since we were already at the hospital instead of waiting 2 more weeks. That was luckily approved. When the doctor did come in he asked if those were the gazes I saw at home. I said yes, but they were a lot shorter than I have seen and just pushed the button not knowing if they were or not. He said those weren't seizures, which was great news! However, I am positive that what I witnessed at home were absent seizures and his first EEG showed signs of epileptic activity. I talked to 3 different doctors about lasting affects of absent seizures and all 3 told me there wasn't lasting damage that was being done. For the last couple weeks I have only noticed about 2 a day. I felt confident with the decision to go home instead of push the issue to stay and have him monitored (plus I was exhausted and wanted to get home!) I figure if these gazes don't have a lasting effect than I'd rather have him have a few a day than have him on medications to control them (with the extra side effects they cause). As of now we are just monitoring him for these. They seem to be getting fewer and not happening daily as before. He still sleeps way to much though.

2nd MRI: This MRI was a lot quicker than the 1st one. He was done in an hour and only cranky for about 30mins. after waking up from the anaesthesia. The 1st MRI took almost 3 hours...makes me wonder if anything went wrong during the 1st one??? I will be requesting those records from the 1st MRI. Before we left I asked when I'd hear results and asked the hospital for all the records, notes and CD of the films. I was told that my doctor would call me the following day, that inpatient results get in quickly compared to out patient like his 1st MRI. I really don't know why I even ask with the history of my neuro anyway! I didn't expect a call and didn't receive one either. I finally called about 10 days after we left the hospital. I had an appointment scheduled for Nov. 15th, but asked if I could move it up sooner since his MRI was already done. I got that appointment moved up to Nov.9th... another story;) I really cared less about meeting with the neuro again anyways since the MRI results and all records were sent to me with in the week! After reading through them it was very contradicting--but what stood out was that there hadn't been any changes!!! That means this form of Luekodystrophy will be a slower progressing form. However----weird part of this MRI report stated their is NO evidence of demyelination seen and his myelination is appropriate for his age...but then it reports their is bilateral periatrial white matter abnormality (which is myelin). It stated that it was stable, suggestive of mild chronic white matter damage (soooo don't these statements contradict themselves??????hmmmm- made me question this radiologist reporting on the MRI?) Overall--all I cared about was that there has been NO CHANGE:)
Insurance/testing road blocks:
Dr. Kirk Aleck -Genetic Specialist (whom I really liked) requested 3 different tests, two being genetic. I called 2 weeks after that appointment to find out what was going on with the tests. The nurse told me that my insurance company declined paying for both of the genetic tests, they only pay prenatal genetic testing. She sent me the request for getting his liver enzyme tested again (it was previously high). I called my nurse case manager through the insurance company to see if there was anything we could do. She felt there was, that we can explain that its a medical emergency and that it sounded like the office didn't contact the right people about getting the testing approval. I gave her the number to call to speak directly with Dr. Alecks office. The next day I got a call back from Dr. Aleck's office and she confirmed again Ryder's insurance will not cover these test. These test were to rule out PMD (another form of luekodystrophy) and have a chromosome micro analysis done to look for small deletions or duplications of his chromosomes.
These 2 tests run a few thousand dollars each. I may be having a fundraiser for the PMD test in the next several months because I feel this is the closes diagnosis that fit his symptoms. From the insurance company's view- if PMD is diagnosed there is still no cure so it wouldn't help at all. My point of view---Leukodystrophy is rare and not much is known about it. If we can understand it, it's many forms, and start conducting research--it's a HUGE step for kids like Ryder! When I began working with kids who had autism (12 yrs ago) 1 in 10,000 kids were diagnosed at the time. Not much was known or understood about it! Today 1 in 110 kids are diagnosed and those with autism are gaining acceptance, research, help/services and understanding--THAT is what I wish for--but hope it won't be 10 years down the road;)
In the meantime....While waiting for results and doctors appointments (during nap time) I did my research. I joined the ULF (united luekodystrophy foundation) and Hunter's Hope (Also read Hunter's story--novel by Jim and Jill Kelly). I requested Barrow's journals and magazines as well. I went through the 34 forms of luekodystrophy and familiarized myself with each one (from medical journals--NOT Wikipedia;) I calculated percentages of each form in which I felt Ryder may have. I came up with 3 scoring higher then a 70% chance based on symptoms. My Mom also bought me 4 DVD's through ULF on seminars on undiagnosed luekodystrophies--INTERESTING!!!! I have been watching short versions of them. There is over 8 hrs of info directed towards doctors--so I need short increments to process and look into this stuff;) --can you tell I'm a teacher at heart and still love to learn;)


Appointment w/  the neuro:
UUUGGG 1st of all! I went into this appointment not expecting anything and really thought this guy was an idiot in the 1st place(still do!) Les came with me:) Starting off, the medical assistant (the ONLY one in the office I like) told me they never received Ryder's MRI films, even though she requested them 3 weeks ago (as did I- to get them sent to neuro). She said there was a lady that could access PCH (phoenix's children's hospital) computer so that he could see the reults. 10 mins. later neuro came in (blah). He did the whole caring--how's he doing speal at first. Then said the 2nd MRI came in with a totally different opinion then the 1st radiologist. This MRI stated slight white matter damage. He said this was great news!!! He said that means that the brain matter was damaged at birth--but it will not progress. Ryder will just have some learning difficulties and it won't affect him much more. I did have a minute of YAY--this WAS all NOTHING!- but I know my baby and I am being realistic. Les saw the look on my face when the doctor said this. Les asked "What are you thinking Baby?" I told them as much as I wanted to believe this to be true--what about the nystagmus, developmental delay, ataxia, not gaining weight, sleep patterns---it all did fit or feel right to me (BELIEVE ME--I WISH IT DID!!!) The neuro then paused awhile and admitted that there wasn't any record of birth trauma and that didn't seem to fit. I asked him to see the MRI pictures (since I've studied how to read them..not a pro--but wanted to see!). Guess what--the neuro hadn't seen the images until about 5 minutes before the visit with us--when the nurse pulled them up!!!! He couldn't even see a full screen of any of the images---I DON'T LIKE HIM!!!!! After him trying to get out of this situation, I opened my notebook of records and research of what I felt it could be.... He agreed with me and said "I though it could be that..I considered that"---blah blah blah!!!) He examined Ryder and stated that he definitely had ataxia. He was unbalanced and over corrects himself. The nystagmus, ataxia, sleep patterns, weight and development are concerning. I told him I'd like someone else at least to review Ryder's 2nd MRI--this was all based on 1 radiologist's opinion--who didn't even know Ryder or the history!! He, himself didn't look at the results!!!!He wants us to schedule and appointment in another 6 months and get a 3rd MRI when Ryder is 2. So Les and I shook his hand and left (walking right past the desk to schedule another appointment!) I have an appointment on Feb.23 with the director of pediatric neurologist at barrows! I'm DONE with that neuro!!!
For those of you that watch Grey's Anatomy--I feel like the parent's on the last episode that the doctors look down upon. They think I'm some dumb parent researching Wikipedia and the Internet to diagnose my kid. How funny is it that I was the one who told the neuro what fits Ryder's symptoms--he didn't tell us--but he agreed!!! Leukodystrophy is so new to everyone and not much is known about it. He spends his time with a lot of neuro patients with many different conditions. I spend my time understanding MY baby and his body and symptoms!!!
I really am not looking to tell doctors how to do their job, but I'm looking to be part of a team to help Ryder. I'm looking for doctors that care about Ryder and helping his whole family by educating, supporting and listening to us! So far God, So many family and friends, Dr. Jones (pediatrician), and Dr. Aleck (Genetic Specialist) are on TEAM RYDER :) I will surround him with all the positive support and love possible.
Presently...and coming up:
Ryder has been cranky lately and very uncooperative with "play therapy." He did cut his 1st molar--hoping that is the reason. However, he is still picky as ever while eating, but has been drinking from a bottle better. He has been unwilling to stand himself, cruise around the couch or even hold a bottle himself lately!!!! MR. LAZY!!!! As hard as it is seeing my own baby struggle, I know I have to push for this independence and try to motivate him. I haven't seen the absent seizures in a few days, but I now observe a slight twitch/shake mainly in his upper body that has been worrying me. He still is as cute as can be though!!! I really LOVE being at home with him and Noah!!!! I could care less if we are poor!!! We have a rich life of love, family, friends and support!!!
Liver Function Test--ASAP
Dr. Bodensteiner-Feb.23
PT & Speech-feeding therapy as soon as we can schedule it (it's been on hold due to paperwork & finances)









Tuesday, November 2, 2010

Medical record updates

Quick update ( I'm not feeling well so I'll give more detail later)

I received the hospital records that I requested from last week. (So happy I request records--I get info much sooner!!!)Ryder got his 2nd MRI last Tues. (that I scheduled since we were already in the hospital). After reading the records, it appears that there has been no change in his white brain matter! Of course a doctor hasn't told me this yet---but I feel like I could be his doctor at times.... This is what I was hoping for. That means this form of luekodystrophy will progress slowly (from what I've researched at least).

I'll update about his EEG when I'm feeling better. As for now- Ryder just got 1 molar in and is cutting another one--needless to say it hasn't been pleasant for the last few days!

Friday, October 22, 2010

Great doctors appointment/ Leukodystrophy

Gained a lot of insight at the genetic specialists today. Dr. Alick was very personable and explained everything clearly--another GOOD doctor to add to Ryder's team!!!!


So here is what I learned today that finally makes sense to me. Ryder does have luekodystrophy. There are about 32 forms of luekodystrophy. The 3 most serious forms have been ruled out through lab testing. The only other possibly significant results from his labs are a slightly elevated liver enzyme. This could have been caused from him getting over being sick. We will run another test to check the liver enzyme. Dr. Alick also ordered a test (forget the exact name now) to lay out his genetic code so we can possibly pin point the problem. As of now it is NOT known if Ryder has any inborn errors (The neuro told me he did have several inborn errors that's why he referred me to Dr. Alick) A third test being run is to rule out 1 more form of luekodystrophy (PMD).

Luekodystrophy as I mentioned has 32 forms identified to date. It is a disorder that needs to be researched further. It is rare and not much is known about it. Dr. Alick said approximately 60% of patients with luekodystrophy get a diagnosis with the specific form. Knowing the exact form will only really give us an idea on how this disorder may play out in Ryder's life so to speak. With out a specific form, we will not have anything to compare really. I am okay with this!! At this point it may be better not to know exactly what form it is. This way I won't get on youtube and watch videos and cry about what he is faced with. There is no cure for any form of luekodystrophy yet. I am feeling more at peace with everything after this appointment. It is Ryder's journey and we are all going to go where ever it may bring us, while enjoying him every step of the way;)

Now we are going to have a fun and relaxing weekend before or 3 night hospital stay next week. Hope everyone has a great weekend as well!

Thursday, October 21, 2010

Busy week with doctors and hospital

My Mom and I are taking Ryder to the genetic/metabolism specialist tomorrow. It will be interesting and hopefully helpful to hear more about the inborn errors resulting from his lab work. On Monday, we will check Ryder into Phoenix Children's Hospital for 3 nights for more EEG testing. His last EEG resulted abnormal so they are looking deeper into the cause of this. I'm a little worried how I'll keep a 1 yr old occupied w/ gauze and wires on his head for 3 days;) We'll manage though.
Ryder is crawling and smiling a lot in the last few days. He continues to have 1 year old tantrums when he doesn't get what he wants;) He is drinking and eating a lot--YAY!!!

We are going to get a hair cut for Ryder this weekend :( No more baby look--he'll be a big toddler:)


I'll keep everyone posted to the outcomes:)

Sunday, October 17, 2010

nothing much, just checking in!

Ryder's first popsicle-- he wasn't impressed:)

But it was fun to paint with.....


but was over that quick!



Not to much to update yet...just wanted to check in for those of you following! We were able to take a much needed 3 day get away to Flagstaff and stay at Les' Uncles place there. The weather was perfect and we had some quality family time (I didn't even answer my cell when the doctors called!)

Ryder has been very grumpy the last few days and continues to sleep most of the day/night away. I brought him to see is pediatrician for a follow up visit from his recent ear infections. She said he looked good. His temp. at the doctors was 99.4, which is slightly high for him--but I wasn't concerned. However, when we got home he went down for a nap and slept until about 4:00. A friend came over for a visit (luckily), because when Ryder did wake up he had a fever and his body was "jerking" like I've never seen before. Les was mountain biking (and had our only vehicle) so I was so glad Carrie was with me! The "jerking" didn't seem like chills from a fever and they didn't seem like convulsions from a seizure. Anyways, I called the doctors after hours line. I ended up just giving him Tylenol and tried to bring down his fever. He did drink almost 15 oz. very quickly of pedialyte which was great!!! He slept most of the night and was still cranky when he woke up, but didn't seem to have a fever anymore. He is acting like he is getting his molars (not eating hard foods and slight fever). I just have no idea what the muscle jerking was???

This Thursday we have an appointment with the genetic specialist. We also have PT and have been working on getting him into Barrow's instead of the neuro at Banner Desert. I am just not impressed with them at all.

That's all thats been going on. It's nice to have things slow down for a few days at least:)

Thursday, October 7, 2010

Moving on--little pieces at a time

Got a call at 10:00 a.m. from the neuro doctor. He said he didn't read EEG results until late last night. He said it was a positive EEG (meaning abnormalities in electrical signals in the brain). He said Ryder's abnormal signals start in his frontal lobe. He can't be positive these are seizures until further testing. When I asked what else they could be, I didn't get that clear of an answer--might be ADHD (in a 1 yr old--probably not!). After researching further I learned about different forms of "silent seizures, specifically absent seizures and partial complex seizures. Ryder will need to be admitted into Phoenix Children's hospital over night and hooked up for a 24 hour EEG through the epilepsy center. It is important to determine which type of seizure (if it is definitely one---but pretty sure it is...) so that the correct treatment plan can be made. The doctor told me it will take 3 to 4 weeks for insurance to approve him for this test. He said it is another 3 week waiting list to actually have him go through testing. What I am learning so far is that it is the doctors office that gets approval through insurance companies. The neuro office has yet to get any appointments scheduled for me and I am very disappointed with their communication with me. On the other hand, Ryder's pediatrician office knows us well and is quick to get back to me with any of my concerns. They have scheduled the EEG and gotten other services (PT through AZip and a swallowing evaluation) and cleared it through hour insurance within the week! I will call them tomorrow to see if they can help me schedule this next appointment. I will also call Barrows with the new info and see if this overnight EEG can be scheduled there instead of at Phoenix Children's hospital.

Today was the hardest day yet to get Ryder to drink anything--not sure why. His throat should be feeling better and he seems happy. He still is always tired and sleeps a good 18-19 hours a day. I had to plug his nose and force him to take liquids--none of my other tricks worked today. It was sad and hard for me to do--but its necessary.

As of now we have gotten a lot of results back with a lot of abnormalities, but they don't fit in any specific pattern to determine a definite diagnosis. Honestly- I am not looking for a "label" to describe my baby, just a "term" to get him the help he needs early on. Early intervention really makes a huge difference. I've never been on this side of the situation before.....but balancing a "normal life" for my family plus getting Ryder everything he needs has proven to be VERY hard!.

I don't have his info with me right now (and am to lazy to go get it), but off the top of my head abnormalities include- MRI- abnormal patches of missing white brain matter, part of brain swollen, abnormal EEG, high liver enzymes, several test resulting in inborn errors, difficulties with eating/swallowing/vomiting, slight developmental delay, nystagmus.....

I just want to piece it all together!!! I know it will happen in time though.

A vision specialist came over today... I'll have to update on that later--Greys Anatomy is coming on now--(heehee my life must go on too:)

Wednesday, October 6, 2010


EEG/Absent Seizures

Our sweet boy had his EEG today. Can I tell you how good our baby is--even though he is going through soooo much-he is just as mellow and sweet as can be:) We love him so much! Sometimes I wish he would cry and scream and protest what he has to deal with, but he never does. I'm happy Les took off work to come with me to his EEG today. He was able to really see what I am seeing and witnessed what an absent seizure looks like! I know it's hard for people to understand, but I luckily have a lot of experience and caught these seizures--most wouldn't!!! They are very easy to miss. So Les (thanks Babe!!) kept Ry awake most of the night and woke him up at 5 a.m. so he would be very sleep deprived for his EEG today. We got to the hospital at 7:15. He was hooked up to a lot of wires and they were wrapped with gauze to stay in place. Right away he had an absent seizure (before all the wires were hooked up). It was the longest one I've seen yet. The nurse and Les were snapping and trying to gain his attention--but nothing. Les asked if the nurse would comment on the report since he wasn't hooked up all the way when it took place. She said she would definitely write what she observed in the report. The whole procedure took under 1 hour. It seemed that Ryder had several absent seizures during the EEG. I am happy that they where noted (of course wish it wasn't the case). I am also glad Les and the nurse saw what I was talking about b/c it's easy for people to think I'm over analyzing everything:(
I asked the nurse if I should call to make a follow up appointment for Ryder w/ the neuro. She said no that he will be calling me today.
Of course--I didn't expect that and called them;) I spoke with his medical assistant and his nurse (neuro). I called asking if I should make a follow up appointment--hoping to get some answers at 2:30 (EEG report sent to them at 8:30) The nurse assured me that either neuro doctor or she would call me TODAY (it's now 6:30) to discuss EEG and make a follow up appointment. Still no call---not surprised--but frustrated! Seriously--I might write a book with all this crazy miscommunication/lack of communication in the medical field w/parents!!!!!!! What if I didn't have the experience that I have??? Where would Ryder be or end up?????
It makes me sad. It is such a complicated process that we need to stay on top of...no one else will.

I did get an appointment with the top neuro for Peds in Az at Barrows today (been trying over 3 weeks!) I did name drop (thanks Courtney) and managed to get an appointment in March. I was offered an appointment at Barrows tomorrow w/ a different dr. who just had a cancelation, but I want Dr.Bodensteiner!!! The appointment may be moved sooner after I have MRI info sent to him. With the genetics doctor and 2nd MRI coming up, I'm ok with the neuro appointment being in March so we can have all results in for this dr. to see.

Sunday, October 3, 2010

Skipped last week....redo this week

Ryder was sick last week so I canceled and rescheduled lots of appointments. His fever was 103.8 on Wednesday. I called the doctor and she said to watch him close for 24 hours and keep him hydrated. By Thursday his temp was down to 102.3 so I called the doctor and we decided to watch him one more day (he was sleeping soooo much, thought he was on the mend). Friday his fever was still 102 so I brought him to the doctor before the weekend. Poor little guy had a double ear infection. One of his ear drums burst (3x now!!!), but he had such a huge build up of wax and pus that I didn't notice any fluid leaking out. The doctor said she hasn't ever seen that much ear gunk in anyone--yuck! I couldn't see anything since it was so deep down. He also had puss pockets in the back of his throat and was very dehydrated (lots of diarrhea and wouldn't drink/eat for me). The doctor gave me 24 hours to hydrate him or I would have had to bring him in for an IV. Luckily, we were able to syringe enough liquids down him so that he had 3 wet diapers. He has been sleeping almost all day and night since Wednesday. He's on antibiotics and Tylenol. Seems to be in better spirits so I'm hoping for a better week. Lots to do w/PT, EEG, vision therapist eval this week.

Thursday, September 30, 2010

Spelling correction....

Encephalopathy or leukoencephalopathy is what the doctor (neuro) said it looks like Ryder MAY have. I spelled it wrong in a post I wrote before and have got a few comments from people trying to look it up... From what I'm reading so far--seems like there are a huge variety of encephalopathy's also, but they don't seem as scary as luekodystrophy.

Wednesday, September 29, 2010

Thank You God!!!!Answers we have been waiting for!!!!!!!!

The neuro's nurse called tonight (5:56p.m) telling me all the test have come in and he DOESN'T HAVE LEUKODYSTROPHY!!!!!!!!!!!! Our prayers have been answered!!!!!

Wow am I relieved......I am so very happy about this news!!!!!!! YES I AM litterally DANCING with this news!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!

There is still the small concern in the back of my mind since this was the same nurse I have been having issues with. She is the one who called last week after I called several times. She told me all his other lab results came in normal when in fact they didn't- as I found out a few days later by the doctor. I am TRYING to believe her THIS time--HE DOESN'T HAVE LEUKODYSTROPHY!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!

So right now---he does have some inborn (genetic) errors, missing white brain matter, parts of his brain are swollen, nystagmus, slight developmental delays, feeding issues, and sleeps too much, may be having absent seizures----BUT NOT LEUKODYSTROPHY!!! I can handle hard work and challenges w/development (just not progressive/terminal news!!!) Still need to figure out whats going on--but I am soooo relieved tonight;) We will be seeing genetic specialist, EEG, 2nd opinion from another neuro, and have another MRI in November to see if there has been a regression--but I have HOPE and FAITH that this will not be the case;)

Ryder is really sick today (103.8 fever) We had to cancel showing up to the fundraiser w/Holly, speech/oral motor eval, and vision therapist eval....we will reschedule when he is feeling better....

There are a few fund raisers going on right now.....even though he doesn't have Leukodystrophy (YAY!!!!!!!!!) we have still piled on medical debt w/only 1st MRI, eye dr. and a few blood test alone costing us over $1200 out of pocket (after insurance deductable!)........we are still waiting for Specialist, 2nd MRI, EEG, more lab work and 2nd opinion specialist bills--yuck---please know ALL money from fundraisers WILL go DIRECTLY to Ryder's medical bills:)

Tuesday, September 28, 2010

Some pictures of our sunshine:)
















Slowly, but surely:)

Wow-- I am SOOO much busier now than I was when I was working---which was BUSY already;) I LOVE being at home with 2 (out of 3) of my very favorite boys:)

What we are looking at---
Ryder has a speech/oral motor evaluation tomorrow

Fundraising--thanks to Holly (Tupperware) through schools going on until the 22nd of Oct. (contact me if you want info) 50% of proceeds go towards Ryder's medical expense!!!!!!

Feeding/swallowing evaluation (approved by insurance--date pending) at Cardon's Children's Hospital

Vision Therapist--evaluation on Thursday

PT (Physical Therapy) Oct.4

EEG- Oct.6th

Genetics Specialist-Oct 22

Barrows--still pending

-----Those are Ryder's appointments so far......Ty is in Karate, Chess and Hip Hop and Noah is in Karate & I'm teaching him at home. Les and I are on a softball league on Sundays (lots of fun!!!).
We are down to 1 vehicle for 2 more weeks--so lots of driving/biking around!

Happy News--- Ryder continues to make some gains--he is crawling a lot more! I called neuro's office about results. One has come in--adrenal leukodystrophy is ruled out (we---ped, nuero and myself didn't think it was this) I will be able to sleep soundly after the next 2 come in (Krabbe and another luekodystrophy--forget name) come in--most worried about those. Ryder continues to be happy and such a blessing to our family!!! Can he be more adorable---really???!!!!! We have had a tremendous out pour of help for food (THANK YOU SOUSA FAMILY), clothes, toys, prayers and love!!! We are good now on clothes and toys (THANK YOU,THANK YOU, THANK YOU!!!!!to Erica, Rachel, Claudia, and Renee) What we could use----Continued Prayers, phone calls, comments, EASY, CHEAP recipe's for me (Denise) to cook---most of you know my level of cooking skills---again I stress EASY!!!!!

Concerns-- I'm worried about how much Ryder is sleeping. He is only awake an average of 7 to 10 hours a day. He isn't drinking very much. I switch between formula, water, pedialite, juice---he just doesn't want to drink much throughout the day. He is averaging about 8-9 oz. He isn't having many wet diapers so I'm worried about dehydration. I'm trying to give him watery foods at least--but he's being very picky (might be textures??-not sure yet). He still won't eat anything green--so funny!!!

Random-- So---Les and I went through the bankruptcy court yesterday (never thought we'd be here;(--but it's life I guess) We decided per our attorney's advice to stop the short sale process and foreclose on our house. A HUGE burden was lifted by the fact that the forecloser can't go through for another 120 days and then once the process starts we'll have another 90 days to find a place. That means at least another 5 months in this house. We will be paying medical expenses instead of mortgage. (Soooo happy my Mom is an accountant:/ & can help out with budget!!!) This is hard for us to admit and come to terms with since we have always been hardworking and responsible people--but who would have ever prepared for this??? Even though it has been tough-- I am appreciating my new outlook on life!!! I really don't care about "things" like I did before. Its kinda fun finding ways to save money and even be more creative in finding ways to help others out. I have special gifts/talents that I'm blessed with and so does everyone else! It's awesome to trade these talents/blessings and help everyone we can at the same time:)
I (Denise) have been to 4 doctors in the last couple of days preparing to lose my insurance. I've gained a lot of insight to my own health--luckily. I am increasing the dosage of hormones (since my hysterectomy) to a level that my body should be producing at my age. The doc says I should have more energy and less hot flashes with the switch---yay:) Since I have had a lot of health issues the past few years, we decided to add myself to Les' insurance (less income coming home--but will be worth it in the long run)

That's everything for today---thanks for following Ryder's journey!!!!

Lots of Love and gratitude,
The Hauer's

Thursday, September 23, 2010

Loving the tantrums!!!

Ryder is becoming the master of 1 year old tantrums:) I LOVE his new pouty face--makes me smile:) He is starting to throw things, pout and fall down when he doesn't get his way---never though I would love tantrums sooo much:)

Upcoming appointments---Sept.29 oral motor (feeding) evaluation, Oct 4th PT, Oct. 6th EEG, Oct 22nd Genetics Specialist and new Neuro at Barrows--app. pending.

It is starting to slow down a little bit---we are having more fun playing and relaxing a little. He is becoming a Mama's boy for sure!!!

Monday, September 20, 2010

Where we are today

Where we are today…

9/17 (Friday)
Ryder is in the process of being scheduled for an EEG (testing seizures). Dr. Jones (Ped) let me know it will take 4-5 business days for insurance to approve an EEG. Hopefully by the end of this week we can get one done.
Neuro's nurse called me back on Friday. I told her my concerns about the blank gazes I am noticing in Ryder. I also spoke with her about the mistakes that I noticed in the labs from the records I requested. She sweetly told me she wanted to schedule an EEG for Ryder. I told her the Ped was already taking care of that. She told me the lab results shouldn’t have made a difference since he was fasting even if it was marked that he wasn’t. She also told me that all the blood/urine results were in and everything looked normal. I was happy with the news, although annoyed that I hadn’t been informed that all the test came in. After reviewing the records I requested, I saw abnormalities in the result (so I thought) but I am not a doctor and must have misunderstood what I was reading. The results were at neuro’s office on 9/9/10.
9/20/10—Today
I got a call from neuro's at 1:24p.m. He informed me that all the first batch of blood/urine work have come in (excluding the most current blood work from the hospital) Results showing there are many inborn errors resulting. There is no pattern to the abnormalities found. He wants Ryder to see a metabolism specialist named Kirk Alick to further help analyze these results. Neuro also ordered another lab test-urinase acyl glycines. I spoke to neuro about my frustrations with miscommunications and waiting for critical results. After words of understanding, he is thinking Ryder may have Leukoenchepophy—a slower prognosis. I was a little relieved after reading about this (even though it still sucks!!!) It still doesn’t seem to fit Ryder—in my opinion, but I’m trying not to jump to any conclusions.
I spoke with neuro about a doctor that I have researeached and would like Ryder to see. He said this doctor was on the team that meet at Barrows and reviewed his charts. He said he was the best in AZ, but he will do the same as “we” meaning “he” is doing now and wait for a 3 month MRI to compare and determine regression. I already have a call into Barrows to get an appointment with this Doctor to review Ryder’s case.
I also am in the process of scheduling an appointment with Kirk Alick- Metabolism Specialist from neuro's referral. That in itself was hard to get since this doctor isn’t seeing new patients—but I did it
I went to Sonora lab and requested the bags and container to take his next urine sample/lab. I also got the previous mistakes on labs taken care of (so they say).
I have been looking on You-tube about Krabbe, Leukodystrophy, leukoenchepoly and all the other words thrown at us. As my mother-in-law stated—technology is both good and bad. I am trying to use this knowledge from the internet as a guide, but keeping aware that they are not Ryder—Ryder has his own journey! I was very touched by a little boy named Judson who had Krabbe’s disease. Watching his videos, I saw a lot of similarities with Ryder. While Ryder doesn’t have a diagnosis yet, I was touched by this little boy’s story. I have written to his parents and am praying that Judson will be Ryder’s guardian angel—no matter his diagnosis.
Appointments coming up: physical therapy, speech consult for oral motor, play dates with Amy/Renee?!!! EEG soon…..
For me (Denise) my friend let me borrow a CD-THETA Meditation System and gave me Tazo “calm” tea to help me relax. I have had two nights of great sleep---YAY

Thursday, September 16, 2010

AAAARRRRRRRRR venting:)

so much for going to bed early!! I am EXTREMELY POed right now!!!!!!!!!!! Got a requested copy of Ryder's medical records from neuro's office and just read through it before I laid down. I found A LOT of errors in the ordered blood test from Sonoran Lab---both times I took him (they called informing me they made a mistake the first time) Some errors were typo's--wrong spelling of last name on patient ID. The errors I'm concerned about are that several test reported that he was NOT fasting--which in fact he was as we were told to do. A lot of results came back w/deficiencies or higher than normal levels. Other reports say U (does this mean unsure?) for fasting when he wasn't fasting. I am concerned that these errors really threw off the results!!!!!!! If I have to take my poor little guy to get even more blood drawn I will be having a bawling fit for everyone----AAAARRRRRR (of course not in front of Ryder;)

Nurse friends----can this mistake throw off accurate results????? Sooo glad I requested reports:) I have actually been given a hard time about getting these reports--when I know it's my right to have them!!!

k--good night for real this time--I have another long day tomorrow it looks like;)

On to the next test and my discovery today

I'm soooo tired today so I'll try to write a quick update....

First of all--THANKS for all the comments on yesterdays post!!! I had a rough day watching Ryder go through those tests and needed to do a little soul- searching last night;) I am feeling better today and your comments helped and made me feel that I'm not alone in this (I know we aren't, but sometimes I just feel helpless and need to bounce around some thoughts)--we've got amazing support!

So today I was feeding Ryder breakfast. He was happy and playful, imitating my actions/noises. Out of the blue he stopped and looked like he was staring off into space. About 10-15 seconds and he was cheerful again. The same episode happened about 3 min. later. I started clapping, calling him and waving my hands in front of his face to gain his attention, but nothing! Right then it clicked and a lot of pieces seemed to fit for me. As a teacher, I've had several students in the past who have silent seizures (don't know how to spell but its like petit-mal seizure. I was shown what to watch for and noticed them easily in other kids---but realized this has been happening to Ryder for as long as I can remember. I always made comments to Les that I was worried about his unemotional gazes that seemed to occur a lot throughout the day. He also sleeps A LOT for his age. I wonder if it's due to these seizures??

I called the Ped and Neuro. The Ped nurse called me right away. I brought Ryder for his 1 year shots today and talked to Dr. Jones (Ped) about everything. Haven't talked to neuro yet...
Dr. Jones office called Banner Desert to set up an EEG. She told me that if I haven't heard from someone by Monday to call her. With the way appointments/scheduling is going--I need to add Banner Desert to speed dial:) I'm sure I'll call myself on Monday to schedule something.

I spoke with a mom of a former student (who is also my sub while I'm on this leave) Her son had these silent seizures when he was about Ryder's age to. The 1st EEG didn't reveal anything. She kept pushing and told the doctors she KNEW he was having these seizures. She really got a run-around about getting another EEG--but once she did the doctors were shocked by how many seizures he was having, but didn't show on the 1st EEG. He was put on medicine for a year--no results. He was put on a diet that did help him. She is going to give me a book about the diet tomorrow. Something to look into---I know what works for 1 person doesn't always work for another. Any ideas??? I don't know to much about seizures.

I am so happy to be at home. I wouldn't have caught this if I was working!!!!

Nighty--nite---off to bed (at 5:30 heehee!)

Wednesday, September 15, 2010

More Testing,More WAITING and honesty from Denise

9:00 p.m 9/14/10 Ryder is fasting8:00 a.m 9/15/10 Went to the children’s hospital with Ryder today to get more blood work. It took 1 hour to check in and confirm insurance. Our insurance wasn’t open yet so the check in lady couldn’t verify the already approved payment for tests.9:00 Followed the yellow turtles to the radiology floor like the admissions lady told us to do (2nd floor) We spent 55 minutes waiting for the nurses to bring us back for the blood test. They were learning how to take the blood test that Ryder needed (these test are so rare that they needed to be sure how to conduct them). Even though it was frustrating having a very hungry baby wait that long—I was okay with it because we have already been called back for more test because the nurses didn’t do it right 1st---so better right then a do-over During that time I copied the tests they were doing so I knew later—They tested for Krabble Disease, metachromatic leukodystrophy, phytanic acid screen for peroxisomal disorders and, plasma very long chain fatty acids. These test will be sent to Kennedy Krieger/ Medical Genetics Lab/Bayor College of Medicine. I was told it will be 1 to 2 weeks for results.10:00 We were ready for the blood test. In my recent experience of surgeries and getting blood drawn—it was easier after a warm cloth was applied for a few minutes to help w/collection. I asked for some warm blankets to heat up withdrawal sites. Ryder was such a trooper---He was poked several times in his right arm with no results. He was poked in his left arm collecting about 4 vials of blood, but it slowed down. He was poked again in his right wrist and another 7 vials of blood More testing, more Waiting and Honesty from Denisewere collected. He cried/screamed and wiggled for about 10 minutes and ended up falling asleep for the last 3 vials taken.1:30 Noah, Ryder and I had an appointment at WIC for some help with nutritional supplements/food while I’m out of work. Ryder got pricked again—testing his iron levels. They came back low—I was thinking because he was fasting and had all that blood drawn earlier, but the WIC nurse disagreed—who knows? Noah was fine. We did qualify and it will help with food for the next several months.When I got home I researched Krabbles Disease—Please don’t let this be the diagnosis. I read up on it and found a lot of similarities including MRI, development, vomiting, irritability as a little baby, & nystagmus. I had Les look at the info and he didn’t see the similarities—hope he is right. I am sick after researching this today---PLEASE DON”T LET THIS BE THE CASE!!!!! I’m still waiting for the “woops he’s okay” news!!!MY (DENISE) Honesty and point of view right nowI spoke with my mom a few days ago about a blog I recently posted. I thanked Blue Cross Blue Shield for the speedy approval. Mom thought I should write a note thanking God and all the prayers for Ryder. I told her I wasn’t ready for that yet. I believe in God. I believe in the power of prayer for myself. I feel that prayer gives me strength and prayer of others builds a community around me and our family to be strong. I am having a hard time believing prayer deals out miracles or a cure. I love my family. I feel a great connection with God, I don’t blame my God for any of this, but I am still dealing and sorting out my feelings about that. I am open to any conversation and understanding from friends or family…please comment for me. Please don’t remain anonoumys—leave your name. And please understand I am confused right now and would love to think about others opinions.

Tuesday, September 14, 2010

Doctors appointment and stuff--

Ryder had his 1 year check up today. He is 20lbs and 29 .25 inches. I really love his pediatrician--Lyndy Jones at All About Kids. She is soooooo helpful and talks everything through with me no matter how long it takes or what time of the evening it is:)

He is making such great gains lately---crawling more and more, pulling himself up on the couch, cruising around the couch a little, NO BOTTLE for 3 days now--sippy cup:), eats & drinks dairy products w/out a reaction, and babbles like crazy:) I know he's saying "I love mommy and daddy and my big bros and I am a happy boy;) With all of these gains that doctor said he isn't that delayed and wouldn't be concerned yet if it wasn't for the other stuff (nystagmus, MRI...)

I am really frustrated with communication between all the doctors and myself. I have learned quick that I need to advocate for Ryder first. I know that the doctors mean well, but I also know Ryder isn't their 1st priority. We were approved by the insurance company Friday for the blood work tests needed to determine if and what type of leukodystrophy this might be. I started leaving messages on Monday to set up an appointment to get these done. After 3 messages, I got a call today from the neuro's office at 2:30. The lady who schedules appointments called them today (3rd day) because she didn't remember if she was supposed to call me or I would call her....REALLY????? She said that lady would contact me sometime today....ya---no---I asked for her # and called her after I hung up. Ryder will be getting his blood work test at the hospital tomorrow morning. I know if I'm not on top of this--no one else will be...3 days wasted and who knows how many more before she called???? I couldn't have got another appointment until Monday if I didn't talk to her today.

I've requested medical records and the minutes from the meeting at Barrows w/the neuro. I'm also waiting to hear back from Barrows medical center for an appointment to get a 2nd opinion. (Not that I have a 1st yet:) Barrows takes a long time to get into so I want to get an appointment now before the lab work comes in if I can and I'll bring it all to them.

Les talked to a neurosurgeon about Ryder's situation today. That neuro said he was shocked that doctors would be concerned over a 1 year olds MRI results. He said that myleanization isn't complete in the brain until a child is 2 years old so Ryder's brain is still forming. I was excited for a little while hoping this was the case. After talking to Lyndy Jones (PED.) she said the neuro must specialize in adults. While it is true that the brain isn't fully developed until 2, a 1 yr. old still can have an abnormal MRI and the ped neuros know what a "normal" 1 yr. old brain should look like.

Thanks for all of the prayers and support we have been receiving. I believe the prayers are keeping us strong and motivated to advocate for Ryder. We love our family and friends!!!

Thursday, September 9, 2010

It was a GOOD day w/some GOOD news & help:)

Our insurance approved the testing Ryder needs next!!!!!! It was supposed to take about 8 weeks just from insurance company approval side (extremely expensive to run these test) but it only took 2 weeks (9 business days really) Thanks Blue Cross/Blue Shield!!!

I had an amazing experience today. My friend Brenda forwarded Ryder's blog and the story fell into the hands of a lady at Breast Cancer of America foundation. She was very touched by the story and offered to help by allowing us to "shop" at a wherehouse for people in need at no charge!!! My sister came with me. I got a car seat, video monitor, amazing stroller that will perfectly suit Ryder's needs well into the future, vitamins, hygene items, humitifiers, matress protectors and more!!!! I was so amazed and overwhelmed that there was a place like this that even existed:) I will definitly be volunteering and making items for this wherehouse in the future. I also learned a lot of helpful information from the lady (Wendy) that was helping me:)

Ryder had physical therapy and I also met with his case manager this afternoon. I am grateful for amazing people working with me to help Ryder:) We will be getting a speech/and food (eating) evaluation and hoping to get a vision therapist to come as well. I really like our team right now so I requested to stay with Rise until Ryder gets an official diagnosis. After that, we will most likely be switched to DDD. Being in the special education field for so long, I've learned that once you qualify for services, it's often hard to find providers...and good ones at that. It seems like case workers have way to many clients, are hard to reach and often don't stay long. I am so impressed with how personal my PT and case manager are and how helpful and reliable they have been. Getting services has been easy so far, leaving me more time to work with Ryder instead of research and advocating for him in that regaurd.

I need to contact the doctor tomorrow about the frequency Ryder is throwing up. It was brought to my attention that it could be something having to do with the swelling of his brain....which I didn't even think of. I will also set up a second opinion at Barrows hospital and track down all his records tomorrow. I need to get organized and have his files together to bring to everyone I see.

Wednesday, September 8, 2010

Little bit of news

I spoke with neuro's office this afternoon. I left a few messages for him yesterday so he called me back. Only a few of the results we are waiting on are in so he wasn't able to tell me much. From just a couple test, he said that Ryder's thyroid and cholesterol are good. That outruled an cholesterol enzyme deficiancy. He said his liver enzyme was slightly high. He will be meeting with a team of pediatric neurologist on Monday (13th) and bring Ryder's scans to discuss. I am happy that several awesome neuro's are working together. I have heard A LOT of wonderful things about Barrows. Neuro was interested in learning more about Ryder's cousin's illness, thinking there may be a possible connection. His cousin has dermatomycitis. Neuro said he wanted to also consider Kearns-Sayre disorder (after learning about his cousin)which also causes nystagmus and is a white brain matter disorder. However, after researching it, I don't believe the symptoms fit Ryder. Kearns-Sayre disorder doesn't have treatments or a better outcome either..so I don't mind ruling that out! Other than that, the doctor expects the test to take up to 6 more weeks:( I am not a patient waiter!!!!!! I asked how I can speed things up and he said there is no way. These lab test take time for cultures to grow....blah blah blah:)

Tuesday, September 7, 2010

9/7 nothing much

no news....I called the neuro a few times today--but the wait continues I guess. Ryder was fussy and didn't seem to feel well today. More throwing up and he slept a lot (about 6 hrs for naps). He's still on antibiotics for his ear infection.



This morning he started signing- more- independently...he is very proud of himself:) He is very vocal and is imitating sounds and faces now! It was fun playing with him before Noah woke up and wanted ALL my attention. It will be an adjustment for all of us, but it wasn't as stressful as working and dealing with this all at least.

Hope I can get ahold of the neuro tomorrow......

Monday, September 6, 2010

9/6/10

I had such a great weekend and forgot about everything for a bit. I started making my list for all the stuff I need to do tomorrow. My heart is racing, can't sleep and am sooo scared again after doing a little more research. I wish this wasn't happening. I get a lot of comments that we are being so strong---really I'm not. I am so up and down and don't want to deal with this.....Why can't I wake up and let this all be a bad dream. Maybe just thinking about a possible phone call with results tomorrow is triggering this anxiety.

Ryder had a great day. He loved playing with his new toys. We are slowly introducing soy and milk products. He threw up a little yesterday, but nothing today. I have a hard time knowing if the throwing up is b/c he isn't tolerating it or still getting over being sick? I'm not sure. I'll have to ask the doctor what she thinks.

We are in for a busy week, but I'm happy I can be at home with 2 of my boys at least! Noah is excited to stay home and "play school" with me everyday. Poor kid doesn't know what he's in for :) At least I'll still be teaching:) He may be able to past his SAT's before he starts kindergarten;)

Yummy and ALL for ME!!!!

Okay-so this is the 1st time I'm uploading pictures. It takes forever and they're out of order!!woops--next time I'll get it right. These are exta cupcakes...
Yummy cake that Jocelynn made for everyone:)

washing up after my yummy cake


Family shot!



Okay let me see this cake!!!





Diggin in to my personal cake!




They are really letting me do this?!!!! YUM YUM














Auntie Jen made this cake just for Ryder!!!!







Sunday, September 5, 2010

HAPPY 1st Birthday SWEET BABY!!!!

We had a WONDERFUL day celebrating Ryder's 1st birthday. Thanks to everyone that could make it to his party. He gave us a birthday present----he started crawling on his hands and knees!!!!!!!! His 1st crawling ever was to great Aunt Penny (she always has a way with the little ones;) He's also started pulling himself up on the couch and taking several steps along the edge recently! I will post pictures soon. He tore into the cake that Auntie Jen made him---wait til you see this cake --it was AMAZING and he LOVED it!!!! Thanks Auntie! My friend Jocelynn made a super tastey cake for all of us----THANK YOU JOCELYNN!!!! If anyone is ever interested in ordering beautiful/yummy cakes check out her site --search: Wicked Good Cake Company (Yep she is a back east gal too--well my fam at least:) We loved seeing all our family and friends to celebrate. I was sooooo excited that my old and dear (she's not actually old-haha) elementary school/highschool friend Suzanne and her adorable girl Eva came:) Mom stayed to help clean up---thx-we are soooo tired and are ready to relax. We needed a day like this to be happy and forget about our worries for awhile:) Lots of love to our supporters!

Thursday, September 2, 2010

Ryder's Dad

Hey everybody. Les here.  I just want to thank Mary, Jenny and my wife Denise, whom I love with all of my heart, for developing this awesome medium to communicate with everyone about the challenges that our family is dealing with. I have always felt blessed to have such a wonderful family and community of friends who are sincere in their dedication to the well-being of our family. I am not the most expressive or touchy-feely guy but I want everyone to know that I appreciate your support and friendship and sincerely extend my love to you for your compassion.

Throughout my adolecense and young adult years my younger brother battled leukemia and our family experienced the ups and downs of a young life in jeopardy. This experience steeled me to probable tragedy and because of this I find it impossible to consider what horrible thing might happen, conciously I am aware of all of the possibilities but I refuse to dwell on the negative. I can seem cold at times but I refuse to entertain any delusions about the reality of this situation and the reality is that we really don't know what Ryder's condition or prognosis is. Because of this I will move forward as if the best possible scenario is the reality and raise my boy as if he is the next Chuck Yeager who only needs my high expectations and some wrestling on the floor to realize his potential.

Reaching Out for Help

We've had tremendous support so far and family and friends asking how they can help. First of all, I have been in your shoes before. A good friend lost her baby about 4 years ago. My heart broke for her and her family. I felt helpless and wasn't sure what to say because I thought nothing I could say or due could ease her pain. I was wrong though....my support made a difference. She actually lost some of her friends because they stopped calling her or talking to her not knowing what to say. I appreciate your support! I appreciate hugs, chats about Ryder and what’s going on in your life too!!!! I always appreciate a good laugh:) Please don't worry about saying anything to upset me--I just need to know you are still my friend and I can lean on you. That being said----here are some ideas that would help us out....leave a comment if you would like to help w/one of these—maybe a way for others to contact you too so everyone is in the loop! I am spending my time bringing Ryder to doctors, working on his development, teaching Noah (preschool) and enjoying my family. I may not be able to help w/fundrasiers or talk on the phone like I used to---but I still LOVE YA:) I'd love it  if we can make this a site where all Ryder's followers can work together and figure this out with us.



1. Meals for our family…Lori Finto has set something up at Sousa

2. Raffle at Seton Reunion—talk to Renee Rosner

3. And fundraiser would be greatly appreciated

4. I won’t be able to afford clothes/toys for kiddos or us---if you or kids outgrow stuff, we could use it! Tyler size 7, 2 in shoes, Noah size 5 or 12 in shoes, Ryder 12mo

5. Visits or playgroups---I’ll get bored

6. Research (Leukodystrophy/ specialist, financial support, insurance) I’m getting a lot of helpful ideas---please keep them coming!!!

7. We are really trying to keep the boys lives as normal as possible. Les would like to get a bunch of kids together to play sports. Since we can’t afford putting them on a team Les is willing to coach and I am sure some of you might be willing to also. If we get enough kids together it would help all of us----kids playing sports, interacting, getting exercise—FREE for us ALL!!! Some ideas…soccer, tee-ball, flag football---and anything else out there (I’m sure Les can coach it and other parents help and take turns this will be fun We can include all ages and if we get enough kids we can have practice and games)

8. Occasional babysitting. For example—we need to take Noah out of Toybox/preschool. When I have appointments, it would be great if someone could watch Noah for me. I know Amy and Carrie have offered this. If I get a list of people willing, I can have backups.

9. Any side jobs I can look into for extra income

10. CHEAP/SAFE place to rent……On a very personal note: Our house is up for short sale (offer is being processed and should clear soon). I have had 6+ surgeries including a hysterectomy last year. That all really made us sink financially as you could imagine. We are in the final stages of declaring bankruptcy  We were planning on renting after we have to move---but me not working anymore is going to put a damper on that as well. Any housing ideas would be appreciated.

11. PRAYERS

12. We’re open to any ideas you guys have as well!



Just want to give a HUGE THANKS for all the help so far!

9/2 quick notes

FMLA is definitely out. After looking into it more, you can only take 12 weeks in a rolling year--which I've already used. I'm looking into Aflac, APIPA and long term care, SSI social security now while Ryder is asleep. He gets services (PT) through RISE and we will be having a meeting and see if he can now qualify for DDD.

Wednesday, September 1, 2010

Different ways of dealing

Within our family we all have different ways of dealing with this news of Ryder's health. We haven't shared everything with Ty and Noah..just waiting to see what more results tell us. We really want to keep their lives as normal as possible. They do know that brother got pictures of his brain and the doctors and Mommy & Daddy are trying to figure out what’s wrong. Tyler (6) is our sensitive & smart beyond his years child. He is picking up on our stress---even though I'm trying so hard to be strong for him. He asked me a few days ago what I did to Ryder when he was in my tummy to make his brain hurt and why I would hurt him. We showed him how a brain develops on YouTube and that it’s not Mommy's fault. (YES--he is that smart & curious to learn about brain development :) Noah (4), on the other hand, doesn't understand what is going on. He is acting up at school and getting into trouble A LOT!!! Not sure if it's attention seeking or just our Noah's colors shining through :) Les seems to be in denial still. Hard for me to write--but he seems positive, stressed, sad, quiet, and supporting all at the same time. He is in need of some mountain biking I think:) He will be racing in a few weeks and he is really excited. I am okay at this moment. The first few days I was devastated. I couldn't talk to anyone and shared the news (even with mom, sisters & bros) through text. I couldn't even catch a breath to talk. The past few days I felt stronger and ready to do everything I can to find answers and help all my boys. Today was up and down with emotions. A friend who went through losing a child told me the many emotions we'll go through---few steps forward and backwards again..... God please give me the strength!!! We have had soooooo much support and people asking what they can do to help. I will write a blog of things people can do to help in the next few days---hard to think of at the top of my head, but I do know we need help emotional, financially and research wise. People have listed great ideas on FB like garage sales, meals, raffle fundraisers, babysitting. Please know that this is greatly needed and appreciated.

September 1st

Today at work I received a call from the lab. I am expecting results from the 1st round of blood work any day so I braced myself for news. The lady started out by saying "Can I speak with a parent of Ryder Hauer" After I told her I was his mom she said "Unfortunately I am calling with bad news." Okay--I literally fell in my chair and my heart was racing! She proceeded to tell me there were errors on 3 of the blood samples taken. Happy and pissed that was the "bad news," I ended up bringing Ryder to get 4 more vials of blood drawn. I did have a small meltdown at school trying to figure out what to do with Tyler....thanks Sousa peeps for understanding I'm overwhelmed and an emotional wreck right now:) Since he hasn't been eating well and throwing up a lot, he was dehydrated so they had to prick him in each arm to get enough blood. I did mention how they shouldn't call a worried mother and begin the conversation saying they had bad news!!! I also politely told them I would drive the blood work down to the lab if they needed...but I expected a rush order. After I brought Ryder home I noticed fluid draining from his ear. I suspected a bursted ear drum since he had the same thing 3 months ago. I brought him to the pediatrician and that was confirmed, so he's on antibiotics. I feel HORRIBLE!!!!!! He has been fussy and tired, had a low grade temperature, not eating/drink well and throwing up a lot:( I thought it was teething and being pricked soo much:( I'll have to take off work tomorrow to stay with him and Friday is my last day. Everything is happening so fast and is soooo unexpected it’s still almost surreal at times. For the most part I'm done grieving and ready to fight for my baby. I WILL make every moment count and cherish him!!!!

Up until now

Just from the questions I’ve gotten from family and friends that I’ve talked to, I thought we’d start with a little bit of background. Ryder is in good general health right now. He is in the 11% for his weight, so he’s still in the normal range, but on the small side. He is also somewhat behind developmentally – not going from laying to sitting or sitting independently until about 10 ½ months and is just now pulling himself up to a standing position. He does an army crawl to get to where he wants to go. He’s also had issues with foods being introduced and vomiting. That he is still continuing to develop is good news! He has started physical therapy. He’s a happy baby.




When he was just a few months old, both Denise and the pediatrician noted a problem with his eyes that we now know is nastagmus (rapid, involuntary, oscillatory eye movements). That has continued and Ryder was taken to a specialist for this. The ophthalmologist ordered the MRI which was done on August 17th. We finally got the results from the doctor on August 24th telling us he has abnormal white matter on his brain.



The radiologist thought it may be leukodystrophy or adrenoleukodystrophy. Both are very serious diseases.



 A pediatric neurologist at Desert Banner Hospital was recommended by the pediatrician. On August 26th, we saw him. This appointment was a start to a learning process that is new to us and it's going to take some time. We recorded the visit so that we can refer back to all the things discussed. The neuroligist showed us the MRI scans and also told us about some other things it could be (there are about 50 possibilities). As of now, Ryder has patches of white brain matter missing which is rare in itself. The white brain matter is myelin which transmits the nerve impulses to the rest of the body. The neurologist will be looking into research more. He seemed focused and determined to take all the necessary steps needed at this time. After listening to him, Denise and Les decided to proceed with further testing (as in blood work and urine sample). After results come back the next step is to find a specialist. The neuro said he will send the info to the John Hopkins Hospital for further review as well. He said he doesn’t believe it is adrenoleukodystrophy. There are many different forms of leukodystrophy, and the blood work will start to narrow these down. He also mentioned that it my be Mitrchondrial. We are currently collecting information on medical backgrounds of both the Mullen and Hauer families.



Denise spent Monday checking into insurance / leaves, etc. Lots of things she didn’t want to hear. She doesn’t qualify for Family Medical Leave of Absence (FMLA) after taking so much time last year having the baby and then the hysterectomy. She can’t take Short Term Disability (STD) because it is Ryder’s medical issues not hers. She can take an unpaid leave up to 1 year, but can’t accept any sick day donations because again it’s Ryder’s medical issue. He can’t be added to her medical insurance as a secondary insurance (Les’ insurance is better as the primary). She’s looked at life insurance for him through work, but it won’t count if she ends up taking a leave. Denise has decided to take a leave. Her last day at work will be Friday. We are getting more suggestions through Facebook for other things she can look into. Thank you. These will all be checked into.



This waiting game is hard. The blood and urine tests that Ryder is having done are very specialized and need to be sent out to special labs. It will take 6-8 weeks to get results back. The neuro will keep us informed as results come back. Ryder will have another MRI done in about 3 months to see if there have been any changes.



We greatly appreciate all the support and prayers that we have received. We will try to keep this blog updated as we get more information.
I enjoyed my vacation too!