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