Yep, it is true. This kid is not only unique but a true genuine, one of a kind.
We had Con's annual genetics appointment this past Friday and everything went as well as expected. The appointments are stressful for my family because I need to make sure I have all of the questions I have gathered over the last year written down and the fact that we don't really know what they are going to say to us. I could not help thinking that they may have found something not so good when studying Connor's deletion this past year. Thank goodness that was not the case this time.
They still have yet to find another person with the same deletion as Connor making him the only one still. Kind of neat that someday Connor will be the person some doctor will be comparing their patient to if someone else ever becomes diagnosed with this particular deletion.
Good news is that there was an article released earlier this year documenting three cases of 21Q deletions (yes, Connor's deletion finally has a name). All of the three cases had similar deletions to one another but very different from Connors. Connor's deletion is the largest recorded so far missing a total of 82 genes and enzymes but even though it is the largest, we got lucky some how. Two of the three cases had very small deletions but they were missing a particular gene (IT1something or rather) that causes severe mental disabilities (I do not like the R word so I will be using the word disabilities instead). Connor's deletion literally stops right behind that gene leaving him both copies. (YAY)! He doctor did diagnose him as being mildly mentally disabled (again no R word please even though the doctor used it several times) and even though I knew that, I had a hard time hearing it from a professional. The article was really nice to know that there are some other cases out there. A 21Q deletion is extremely rare but I am still determined to find another kid out there EXACTLY like my boy. I keep looking at this article just so pleased that I have a little something to compare him to now even though it is not what I had exactly hoped for.
Apparently the first ever recorded case with a deletion similar to Connor's was in 1964. I believe these other cases from the article are more recent than that but I am not sure.
We spoke about Connor's amazing progress and finally brought up his speech which at this point is my main concern. He mentioned to us that Connor's brain is underdeveloped which we knew but it is also very narrow making it hard for him to process speech since it is done in the frontal lobe. He told us that he should talk but it is unknown as to if it will be normal like you or I or if he might have a slur or speak slightly slower. He also could not tell us when. It could be in a year or 5 years. If by chance he is still unable to talk properly when Kindergarten rolls around, there are computerized talking devices available to help him in school. This is all such good news. We will continue speech therapy and possibly ask for more. We are excited to enter him into special education pre school when he turns three. He will be able to learn so much more there and finally meet a friend or two.
We came across some health problems we will be addressing in the next few months as well. Connor will be getting an eye exam due to the shape of his lids and my concern with his peripheral vision. He will also be going to a GI doctor due to the fact that the genetics doctor has diagnosed him with PICA. I had never heard of that before and thought Connor's need to put everything in his mouth was just something he needed as a stimulation. Turns out he is not mouthing his books or his babies but he is actually eating them. That is why he rips the strings out of his babies and gnaws on the ends of his board books. His body for some strange reason is craving those things. He also eats cat food daily but we of course discourage that behavior. I find it to be so odd that your body can crave something so unappetizing. I know my mom used to eat dirt as a child and it turned out she had a very bad kidney problem and needed lots of medications. We are hoping Connor is just missing an enzyme or vitamin due to his deletion. The doctor mentioned that it could be psychological and if that was the case it would be a very, very hard habit to deal with. Lets just hope for the best and pray it is a vitamin or enzyme deficiency. I am so happy to see a GI doctor because not only will we address this PICA issue but now I can get to the bottom of his chronic constipation/diarrhea. That poor kid has never had a normal bowel. It is one extreme or the other.
Other than that, Connor looks great and has made great progress. We were told he is a very charming little boy and definitely one of a kind. They also mentioned that he is proof that Early Intervention works.
I am one proud mommy!
