Genetic Test Results

Well, after 5 years of a misdiagnosis, we finally have a true diagnosis for all of Timmy's medical conditions.

Timmy has inherited 2 mutated genes, one from me and one from his dad. The PAX6 gene is a cause for all of this. The PAX6 gene is linked to aniridia, which is an eye condition where a person is born with partial or absence of the iris (color of the eye). It had also been found to cause central nervous system defects, glucose intolerance, microphthalmia/anophthalmia (being born with small or no eyes) and brain malformations.

For me, the PAX6 gene mutation is found within the R240X link. And for Floyd, the PAX6 gene mutation is found within the R38W link. Timmy inherited both of these 2 mutated genes. All of this gene, chromosome, codon and exon stuff is so confusing to me. So I'm trying to explain this to the best of my ability.

Being that Timmy is the only surviving person with this gene mutation and all of the other associated medical conditions, there is no medical syndrome name been given to the condition. The only other person to have had the same PAX6 gene mutation, but different part of the gene was affected, was a child from Finland. Unfortunately this child did not survive.

I have typed an email to Dr. Ben Solomon, from NIH, to see if possible he might be able to give me more info about the othe child and possibly put us in contact with the other family.

At this point, I have mixed emotions. I feel relieved that we finally know the exact cause of Timmy's medical conditions. But on the other hand I feel alone and scared. There isn't just one place to turn for information or support. There is so little known about this, that the doctors can't even tell us what the future holds for Timmy. As a parent, upon finding out the genetic test results, you start to question whether medically and acedemically if we are doing everything possible and in his best interest to help Timmy? Medically, should we be trying different strategies or should we or should we not be having "x" procedure done? Acedemically, is there a different or better way that we should be teaching Timmy to help him learn? With his therapies, are we pushing him hard enough? Should we be using different techniques to help with his progress in PT, OT, ST? I guess what I'm trying to say is what is the norm for Timmy? Where does he fit in stastically?

Even though I have all of these questions, it isn't going to change the quality or type of care that Timmy receives. Timmy is my life, my sunshine and my morning cup of coffee. Without his smile and laugh every morning, I don't know how I would ever be able to make it through the day!

Also Timmy has pre-op tomorrow with surgery on Thursday, at UNC with Dr. Zdanski (ENT). This surgery is to again repair his coanal atresia and remove his adnoids. This is the first of two surgeries to prepare Timmy for the possibility of having his trach rremoved. During surgery Timmy will also have a PH-probe to see if he is having reflux. In my opinion, Timmy's nissen fundoplication procedure that he had 2 years ago has failed and Timmy is having very mild reflux. Timmy is having all of the classic symptoms that he had 2 years ago before the nissen, drooling, sticking his fingers far back into his mouth, spitting up, and the smell of acid in his drool. Hopefully something good will come out of these procedures.