This is a chronicle our everyday life as we live, laugh and love raising our teenager, our toddler and our special needs baby. Normal isn't always what it seems...

Sunday, March 13, 2011

The missing piece of the puzzle

We have found our missing link! Literally. On Thursday, we met with the Genetics team at UT. As some of you may remember, we did some genetic testing per Dr.K's request back in December. When Lydons results came back we then had our blood tested. So, in the last week or so all of the results have come in. The "team" of doctors and nurses came in armed with toys and a box of Kleenex. I was so impressed! Two and half hours later, I realized both of those items benefited them as well as us. Once again, thank goodness for my wonderful Mother. She was able to get off and go with me in Jonathans place. I couldnt have made it through this appointment without her. The appointment was obviously very involved and included a lot of detail to say the least. I wont relay everthing here that they relayed to us since blogspot doesnt allow for the Magna Carta but I will try and relay this all to you as simply as I can. The simple answer is that Lydons chromosome panel showed a missing portion of Chromosome 16. Neither Jonathan nor I share that same loss. So, this is a mutation/deletion that is specific to Lydon and is the underlying cause of all of his problems. This deletion is universally associated with growth delay, developemental delay, speech/language delay and seizure disorders. At this point in the visit, Im a little confused. Lydons growth, developmental and speech delays although they have been a great concern, they have certainly not been our biggest concerns. What about his on going significant GI issues or his extreme fatigue and energy deficit? The list could go on and on. Then, they explained to me that the chromosome is the place where the genes "live". The genes are what tell us certain detail specific information. So, the missing piece of Lydons 16th Chromosome is the "house" for 7 different genes. They dont know what all seven of the genes are responsible for however, one of the genes specifically is a nuclear encoded gene for mitochondrial disease. And that would explain all of his other medical issues and what we have been thinking for months now. That there is indeed a mitochondrial dysfunction. Now, for the curve ball because in case you forgot this is Lydon we are talking about. They have only been able to identify disorders/diseases with this area of Chromosome 16 for the last five years. So, the technology isnt available at this time to identify the specifics of this gene and exactly what mitochondrial disease or dysfunction it causes. So, we know now what is behind Lydons problems and where it all stems from (This was a genetic "glich" that just happened. It was not passed on from either of us and he didnt develop this after he was born.) but we still do not know exactly what this is or what this means for Lydons future. We know that for a while at least, he will continue to have a delay in growth, developement and speech but we do not know to what extent that will be. We are very anxious to meet with the mitochondrial disease doctor again next week and she what she has to say in regards to this gene discovery and the role it would play in Lydons medical/mitochondrial issues. So, all in all, it was a lot to take in but we are indeed narrowing things down and getting some answers and now we do at least have a primary diagnosis. Lydon has a Chromosome 16p deletion. Im sure we will have some more information to add to this after we see the mito doctor. The genetics team are looking in to research studies across the country which may already be in progress to examine to possibilities of getting all of the specifics of this gene broken down and identified. If they do not find one, they will work to get a research study started here at UT and Lydon will be the subject. The head genetics doc told Lydon very sweetly while she examined him, "You are a little mystery man and you're gonna help us write the book on this one." I felt like that was a bit of a confirmation to what I've been saying for months...Lydon is special and God has had a plan and specific purpose for him all along.

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