Finally an answer......well, not really

Friday morning I received an email from our genetic counselor. The email stated that the lab results were normal. Period.

I was very upset, but first let me explain what we were testing for.

Basically, there are 4 different mechanisms that cause Angelman Syndrome:
Deletion Positive
Uniparental Disomy
Gene Mutation
Imprinting Defect

This last test result was on the Imprinting Defect. Kendal has been tested for all these mechanisms and they have all come back normal.

We apparently are missing something. The doctors diagnosed Kendal off of a DNA methylation test which indicted that there was a particular defect with a particular gene sequence on her 15th chromosome. Because the methylation test showed abnormal, they should be able to isolate the exact mechanism which caused AS. Since we have tested for the different mechanisms and everything is normal, what am I supposed to do now but question the diagnosis in the first place.

What was so upsetting is the fact that after all these months (8 to be exact), I know nothing more than I knew in February when she was diagnosed. Even more upsetting was the fact that the genetic counselor sent an email with no call of explanation or guidance.

I, of course called Vanderbilt Genetics and left a detailed message to have someone call me. I then called Terry Jo Bichell (visiting scholar at Vanderbilt) to get her advise. I, of course, had to leave her a message. I then called Doris just to vent and thankfully she totally understood where I was coming from and my frustrations. THANK YOU DORIS!!

I then decided to call the Angelman Syndrome Foundation in Illinois to see if they could guide me of what to do next to get some answers - including does Kendal even have AS if they can't find the mechanism? They referred me to Dr. Charles Williams at the University of Florida (please see link http://www.peds.ufl.edu/divisions/genetics/faculty/williams.htm). They said he was one of the top experts on AS in the country and he can could probably point us in the right direction. I sent him an email briefing stating testing that had been done and questions of what to do next. To my utter disbelief, he called a couple of hours later to speak directly with me about Kendal. (At this point, I still had not received a call back from anyone in my own state). He seemed very interested because he said Kendal's situation seems very very rare. Remember, out of the cases where they receive an abnormal DNA Methylation, approximately 95% of the cases are deletion, UPD, or mutations. He thinks that the Imprinting test we just had only tested for a deletion in the Imprinting Center not a defect. Just off of what I told him, he thought that we needed to look closer at the Imprinting Center for a defect and not a deletion. He asked if I could fax all of Kendal's labs down so he could take a look at what tests have been run and figure what is the next best step.

CAN YOU BELIEVE THIS? A doctor that has never even met us seems more interested in helping us than any of the doctors we have personally seen. I expressed my frustration with the doctors up here and he reminded me that Kendal is very different from most children with AS and that they probably have not had a case like hers and do not know what steps to take. I felt like a huge weight has been lifted off my shoulders after talking with him. I was reminded once again that GOD always provides.

I will fax the lab work to him Monday morning and he said he would try to review it and get back with me either Monday afternoon or Tuesday.

Later on my way home, I finally received a call from Vanderbilt Genetics. Another genetic counselor called and tried to help me. I was on the phone with her for over 30 minutes and I'm not sure even what we discussed. She was saying one thing, I was trying to say another. One thing I have learned is that genetics is a very different field and counselors or geneticist aren't always the easiest kind of people to converse with. I think the lady did not understand why I wanted an answer. She felt like Kendal has AS so why bother with any additional testing. Well for a couple of reasons I explained: recurrence risk, closure of understanding what happened to cause this, final confirmation of diagnoses, and reaching out to other families with the same issues. The genetic doctor that we have seen has left Vanderbilt so they will be reassigning me to another doctor (one of two doctors that has more experience with AS). The counselor felt like I needed to come back in fairly soon to discuss what we are looking at. I explained that my frustration is the fact that I don't feel like anyone is trying to figure out what is going on. I would think that if her type is so rare that they would be inquisitive enough to be proactive in connecting the dots. Someone is supposed to call me Monday to come back in. I almost felt bad for the lady when we got off the phone. She did not know anything about our case and here I threw everything in her face along with a bunch of criticism. She was as helpful as she could be and maybe she will pass on my frustrations to someone that can help me.

Still have not heard back from the behaviorist. I called TEIS on Wednesday and she stated she still had not received a report. It will be 2 weeks on Tuesday that we have been waiting for a report that should have been completed within the week of the evaluation. I dare TEIS to deny coverage because Kendal is not autistic. At this point, I am ready for a fight. BRING IT ON!