Are We Alone?

Amanda has a genetic deletion (monosomy) on chromosome 15 (q21.2-q22.3). When she was first diagnosed in 1999 there was very little information on her chromosomal deletion. We were given one article starting with "There have been only four reports of deletions in the more distal 15q2 region,2-4 all involving severely handicapped infants." Looking at the chart two had passed away by their 3rd birthday. Discouraging news for new parents.

Amanda not only survived her third birthday, she thrived. Although her development was delayed she continued to grow and remain healthy. She started walking at 5 1/2. When tested at age 10 her development was on par with a typical 2-year old, causing her to be classified as "severely delayed." Still she was progressing and, most importantly, she was healthy and happy.

However, we have been alone this entire time. We have never met any one with a similar chromosomal deletion. There are no support groups when you are one of six known cases of a disorder. There are no marathons for financial support. No special T-shirts or car magnets. No one to talk to.

Amanda's life has been a series of unknowns. Will she walk? Will she talk? Will she need surgery for this or that? Without a network of other families we've just had to wait and see, always hoping for the best.

I worry because the ages of the survivors in the paper we were given were 15 months, 14 years and 18 years old. The article came out in 1990. The oldest would now be forty. I hope they are all well, with happy and fulfilling lives. But there is no way of knowing.

Recently I've noticed what seems to be a slight deterioration in Amanda's overall health. It is nothing serious, but enough to concern me. For instance, last fall she had several clonic/tonic seizures (grand mal). I wish I had someone who had been through this before me. Someone who could say,"it's okay - its just part of the syndrome sometimes." But I don't.

oxygen converter

Amanda has always had some breathing issues. Having been through multiple surgeries we know that she takes a while to come out of it after sedation or general anesthesia. We expect it and don't worry about her coming back to the room on oxygen - her pulse oxygen level in the low 80s. However, last year after hip surgery she unexpectedly crashed.

Doctors and nurses rushed into the room with a big machine. It turns out she had actelectasis - her right lung had collapsed. They moved her to pulmonary ICU. She got breathing treatments. Every few hours she had to go through percussive therapy. She was released after five days in intensive care. She came home with canisters of oxygen and a huge, purring oxygen converter.

Later that year, while sedated for a bone density scan, she became cyanotic three times in eleven minutes. I was in the room since no one had expected complications. Watching the doctor and nurses rush to clear her airway and provide oxygen three times was not fun.

Look at the bluish tint around her eyes -
even on oxygen she was cyanotic.
 

Finally, last week after a relatively short time under anesthesia (less than 2 hours) for a CT scan and MRI she returned looking cyanotic. Her nail beds and lips were bluish. The area around her eyes looked bluish gray. Her breathing was obstructed (like intermittent snoring) even though she was on oxygen.  There is something extremely frightening about listening to your child struggle to breathe. Breathing is so simple and fundamental. It's autonomic; it's not supposed to be a struggle.

I wish I knew there were others who had had these symptoms as well. I wish I knew if they are typical for her condition or if they may indicate something worse on the horizon.

I've always considered Amanda one of the lucky ones because she survived infancy. I assumed that if she made it past that critical period she would be more or less fine. Now, I'm starting to wonder what to expect. I wonder how those other survivors are doing. What are their lives like? Do they have the same symptoms? Have they had the same surgeries?

I've been on a quest to find other survivors for the past 3 months. I was thrilled to find two with close chromosomal deletions. One is a boy with a nearly identical deletion. Happily, he is also 13 - and luckily has far milder symptoms. He is walking, mainstreamed in school and very healthy.

Encouraged, I realized that where there was one there might be another. I researched every rare chromosome group I could find on the Internet. I believe that I have located four more individuals with a similar deletion.  That brings the number of documented instances of this particular chromosomal deletion to eleven!

I have no idea how old these children are or what they have been through. I've been able to get some contact information so I've reached out to them. Hopefully they will respond.

I hope I hear from the other families. I hope we can share stories and provide support for one another. I am so grateful that we are not alone anymore. Maybe we can get T-shirts or have a marathon some day.


Looking for a match to Amanda's rare chromosome deletion I've found the following resources:

http://www.rarechromo.org/html/home.asp

http://www.chromodisorder.org/CDO/

http://www.rarediseases.org/

http://www.rareshare.org/