Beckem’s genetic test report is finally complete. The geneticist actually emailed me on November 1st with partial results because he knows how anxiously I’m waiting. I didn’t receive the full report until Tuesday. But after the partial info on Nov 1, I began studying everything he sent me and everything I could find online so I do apologize for the lack of proper daily updates. I’m overwhelmed in every possible way. I’ve always heard, and believed, that God created each of us uniquely. That has never been more certain to me until now. Beckem has a brand new disease that nobody else in the entire world has (that we know of). To backtrack for new followers, when I took Beckem to the geneticist when he was 3.5 months old, his clinical impression was that Beckem had a peroxisomal disorder, namely, Zellweger syndrome. Mommies of babies with Zellweger don’t start planning their 1st birthday party. A half birthday is usually the only one they have. When Beckem was 5.5 months old, we received lab results that told us he didn’t have this syndrome….Praise God! Since then hes had many many tests including a gene study for a congenital disorder or glycosylation (type 1a) that he also didnt have. I also want to throw in a disclaimer….I’m not a medical professional so if I don’t explain something properly, I apologize and that’s never my intent. I honestly had to look up every other word of some of the things he sent me to read, then I have to rewrite it in words that I can actually understand. Beckem has 2 gene mutations that they feel are the ones responsible for his issues. He has 10 other genes that are defective and 2 mitochondrial genes that are broken as well. The geneticist said this is a lot to assimilate, even for him. The first gene mutation is on EDA1 which is associated with hypohidrotic ectodermal dysplasia. It is a rare disorder with characteristic facies and affects the development or function of teeth, hair, nails, sweat glands, possibly parts of the eye, inner ear, nerves, brain, exocrine and sebaceous glands, fingers, toes. Dr. Wilson (the geneticist) was perplexed because Beckem doesn’t have all of the features, and this disorder doesn’t explain his heart defect as well as some other big issues he has. It does seem to explain his feeding misery though. There’s a lack of mucus (and/or quality of mucus) throughout the body…it commonly affects the respiratory system and a simple cold can be very difficult to manage. But it can also affect the gastrointestinal mucus. I’ve read about 7 different children under age 5 who had extreme pain with feeds, difficulty swallowing at random times with swallow studies giving no answers as to why, gagging with feeds, vomiting, oral aversion, severe reflux, lack of hunger, extreme food intolerances/allergies and immune system dysfunction. This explains Beckem’s sparse hair (which is the least of everyone’s concerns), and his heat sensitivity and temperature fluctuations he had in the past. Beckem has always been extremely sensitive to heat…he told me a long time ago not to heat his bottles much, told me he hated fleece jammies, and he has to have a fan blowing on him in the back seat of the car. I’m extremely sensitive to heat as well and mom said I was as a baby…now we know why. I have the mutated gene as well, but my symptoms are much more subtle because I have the other x chromosome to take over. Now for the second gene….the one that is responsible for Beckem’s most sinister issues. The KAT6A gene is mutated, but not a “regular” mutation, his is called a frameshift mutation. When there is a translocation on the KAT6A gene it’s been found to cause acute myeloid leukemia. Its quite rare to have a translocation on this gene and even rarer to have a frameshift…in fact, Beckem’s is the first to be known. Of course, the genetic study he had isn’t readily available, so there could be others. Here is an example I found to help me understand a frameshift mutation…the sentence will represent a gene: THE RED CAT ATE THE RAT If there was a point mutation the sentence would change to: THC RED CAT ATE THE RAT The error occurred where the letter e should be in “the” so “the” isn’t useful, but the rest of the sentence still makes sense. A Frameshift mutation looks like this: HET EDR ATC TEA HET ATRA Makes no sense at all. The letters are all there but useless. The entire gene is null…doesn’t work. The lab reported that a recent study in mice suggests that KAT6 interacts with genes that are in the same cell line that causes Velocardiofacial/DiGeorge syndrome. “KAT6A-null mice have features that mirror DiGeorge syndrome suggesting KAT6A is involved in cardiac, pharyngeal and facial development.” I asked Dr. Wilson to wrap it all up into one sentence….”I would say his diagnosis is a form of ectodermal dysplasia modified by another mutation, unique so far in medicine”. Dr. Wilson is still researching and collecting even more detailed information from me. He said this is a publishable case if we are willing, and I can’t think of a reason not to. It can help generate feedback from other doctors and could possibly help other families someday. It’s a lot to absorb, to say the very least. I’m bombarded with emotions, some I don’t even recognize much less know how to deal with, if that makes any sense at all. I’m in a sense relieved to finally have some answers…it’s tough to go to the many different GI doctors and they have no idea why he can’t eat appropriately without pain and look at me like im crazy. But, my heart is quite broken. We don’t really know what to expect or what all of this means for Beckem’s future. Dr. Wilson also sent several things we need to begin monitoring due to the other 12 gene mutations so I’m pretty sure Beckem will soon have seen every specialist there is! It’s tough to see a list of genes that are broken for your baby, because, when I look at Beckem, I see a beautiful, perfect body and the most pure, angelic spirit ever. I praise God that He is faithful and Beckem IS fearfully and wonderfully made. I will thank Him continually for this miraculous gift that we call Beckem.
Posted on: Fri, 15 Nov 2013 19:37:02 +0000
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