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!

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:)

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:)

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:)

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.

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.