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

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.

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 Thanks you for your interest in our baby’s story.
Much Love and Hope,
Denise, Les, Tyler, Noah and Ryder Hauer