The Peanut Gallery

Monday, November 30, 2009


Monday, November 30, 2009
Kennedy is now part of a Canadian Research Project that is looking into abnormalities of the following two genes: MECP2 and CDKL5. About four months ago during a routine genetics appointment our Geneticist shared information with us about an extremely rare syndrome that she thinks resembles Kennedy - CDKL5. As of right now roughly 200 people worldwide have been diagnosed with this disease. It is so rare that it does not even have a name, it is just referenced by the genes alpha numeric symbol. In order for Kennedy to be tested for CDKL5 the lab would have to first test her for MECP2 and if the test was negative then they would test her for CDKL5. So, two tests were needed to determine one diagnosis (of, course). CDKL5 is an atypical variant or mutation of MECP2 - well that is my understanding (I think I need 10 more years of schooling in order to get a complete understanding of all this genetics mumbo jumbo). So it is a sequential testing.....1st test for MECP2 if negative, then test for CDKL5.

Brian and I went home and thought about it for a long time. I did plenty of research about CDKL5 and whether or not I thought this could be Kennedy's diagnosis. CDKL5 mainly affects girls and not much is known about it. Below is a non comprehensive list of symptoms that correlate with Kennedy's current condition as I see it relating to CDKL5:
  • Refractory seizures (seizures not easily treated wtih meds)
  • Microcephaly (small head - Kennedy's is in the 3rd percentile)
  • Minimal or no use of hands (I think Kennedy's hands don't work due to peripheral nervous issue)
  • Small feet (Kennedy only wears a 2 and they are big)
  • Low muscle tone
  • Cortical vision impairment
  • Mental Retardation
  • Severe neurological impairment
The first thing we needed to do before committing to these tests was to get confirmation from our insurance company that they would cover all or part of costs incurred from the genetics testing. It took a little more then a week for them to get back to me - we were told no. As some of you may know, genetics testing is not normally covered with most insurance policies and sense Kennedy has received more then her fair share of tests that they have so kindly covered, they have pretty much decided to cease the coverage of future testing. Bummed about the news, I called the lab at the Mayo Clinic for a quote and was told that both tests would result in a grand total of $4,300!!!

Not that we place a price tag on our daughter, however, we just did not find it beneficial to fork out that kind of money on a Geneticist's hunch, especially since I did not think Kennedy had this genetic abnormality! I mean can you blame me.....There is not a high probability that this is what Kennedy has. If you have not all ready noticed Kennedy is a difficult complicated child....If you recall, the doctors were sure she had one of three Leukodystrophies (Metachromatic Leukodystrophy, Krabbe Disease, and Adrenoleukodystrophy), but when those came back negative, they were even more certain about her having Congenital Disorder of Glycosylation Type 1A. What about the pure confidence portrayed by my Neurologist that she has a Mitochondrial Disease (not sure which one, but she has one of them I trust my Neurologist)! Not to mention the countless other syndrome/diseases/disorders she has been tested for - all resulting in a negative test result. Once we put all this together we decided that it would not be wise nor financially beneficial to Kennedy or our family.

I called our Geneticist to inform her of our decision, to which she was saddened upon hearing the news. Laughing, I told her if she could let us use her insurance or if the lab would do it for free we would be there in a minute. It just did not make sense to spend almost 5K for the "possiblilty" of a diagnosis, because as you all now - if this test resulted in a negative finding we would be told that there is a new disease/disorder that Kenendy has and more testing would be needed. I just was not going to spend that kind of money for a shot in the dark.

Now back to the Canadian Research Project. Apparently the Canadian government has provided significant funds to several doctors and/or researchers to perform analysis and testing regarding MECP2 and CDKL5. So about a month ago we received a phone call from the Geneticist herself. She was very enthusiastic and upbeat on the phone, she said, "you told me that if the test was free you would do it"! Well the rest is history. We had the tests done on Tuesday, November 24th and they were sent to Canada via FedEx the same day.

The clock starts now.....4 months and counting!!!


Jennifer said...

That's so wonderful that you are able to have the test done for free! God does the strangest things sometimes to get us on the right path. I hope for all of you that this is the final leg of the journey to getting answers!


I hope this is the test that gives you your answer.
CDKL5 was discovered in my children ending our search of 23 years. That was four years ago and since then many other children worldwide have been tested positive for CDKL5.
Please visit where there are links to other family's stories about their CDKL5 journey and to join our support group now or when you are ready. There is a wonderful group of parents there who have all travelled a similiar path.

Hugs, Leita.

The Purdy's said...

Hi Stephanie,
Your road sounds very familiar...I have a daughter diagnosed with CDKL5. Good luck with the testing. If you have any questions feel free to contact me. There is a very strong and supportive group out there in the event that your road leads you to this diagnosis.
Mary Margaret

alexisamber said...


My 13 year old daughter Alexis has deletions in her CDKL5 gene only year on April 30, 2009. It was 13 long years of not knowing what was wrong. It was then that I found Leita and and a few other families on the site. Please click on the link out our site when you have a chance. Alexis and I live in New York, USA.

I started a blog for Alexis feel free to check it out. I havent updated it lately but here is the link. http://alexisamber. blogspot. com/

I hope that you find an answer soon. Best of luck with everything.

Lisa & Alexis