I took the boys to the Genetic department at Seattle Children's Hospital a couple of weeks ago. The boys and I have a chromosome abnormality in chromosome 3. It's still over the head for me but it means we are missing a small part of chromosome 3 in the p arm towards the end, about 170 kilo base of them. That is considered a microdeletion since large deletions are over 1 mega base. The larger the deletion is greater the physical or neurological challenges are. When we found out about our deletions through Sean's blood test four years ago, we were told we are the only known case of this particular deletion. That scared the heck out of me. Would it cause a life-threatening disease like cancer? Does it shorten our life span? Having what's called a "rare disease" was a big slap in my face and I truly feared for my boys' well-being.
I frantically searched on the web and found a support group for Chromosome 3 deletion, duplication, trisomy (having extra arm) and ring (the end of the chromosome arm attaches itself to form a ring). In the support group, I even found several other families with deletion in exact same location with ours. Chromosome testing is still new and it seems that the data is not shared efficiently in medical community. Thank goodness for the world of Internet! The families report their children suffer from developmental delays and autism, but not much of a physiological problems. Some children suffer from seizures and they take medications to control it. My boys do not seem to have seizures, however they do have some moments when they are completely in their own world (so it seems) and calling their names or even waving hands in front of their faces wouldn't snap them out. After researching on the web about seizures, I discovered there is a type of seizures called "silent seizures" where the person doesn't appear like having a seizure (no shaking or twitching). Sometimes they could be laughing uncontrollably all the sudden or just look like spacing out. That concerned me because my boys do that often. So, I thought I should dig this deeper and see the specialist.
The boys did great at the appointment. Noah was eating the fish crackers the whole time and was pretty quiet. I didn't get much new information - nothing I couldn't find on the Internet. That was somewhat disappointing since I thought they have more insider information about the whole chromosome abnormality topic. I actually knew more about what other patients are suffering from than the doctor. She was pretty impressed with me. One thing she offered was a referral to the neurologist to check out the seizure issue. That proved to be more fruitful visit and I really liked the doctor I saw. Ever since I began the quest for more knowledge about the brain after the boys' diagnosis of autism, I just love collecting more information about how brain works. If I had a second chance in life, I would love to study Neurology. It is such a profound, complex and delicate organ that is truly fascinating. It is the cause of everything, happiness, sadness, pain, compassion... which isn't understood so well.
The doctor suggested doing an EGG test where they study Noah's brainwave but since he is still young he would have to be under general anesthesia. She asked if we are also interested in doing a MRI since he is going to be under the anesthesia anyway. That would show more detailed brain physiology if he has any anomaly - even be able to measure the amount of gray and white matters in his brains. WOW!! The studies show that the greater amount of gray and white matters equals intelligence. Although it won't be able to tell the works of each part of the brain, it will tell us if he has a tumor or any structural deviance. Is doing a MRI worth it? Yes, I think so, but I have been warned by several doctors that we may find something we may not need to know otherwise. He may have a small tumor, for example, which won't affect his health but since we found it we may need to continuously monitor it with additional MRIs in the future. The prospect of discovering the reason behind Noah's delays sounds hard to pass. I've always wondered if he has problems with inner ears as well which would be revealed in the MRI. But I have a lot to consider. It's a tough decision.
It is just a reminder that being born is a miracle on its own and to be healthy and without any neurological issues is the greatest wonder. I believe in my boys that they can achieve their dreams just as any other healthy people can. They will just need to work harder and I know they are very determined individuals (sometimes too stubborn). The visits were overall very positive and I am glad I took both of my boys to Genetics and Noah to Neurology.
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