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!!!

Thursday, November 26, 2009

I am Thankful for you!!!

Thursday, November 26, 2009
Dear Kennedy,

It is our second Thanksgiving together and I am so incredibly thankful to be able to spend the entire day with you! I thank god every minute to have you in my life. When I reflect back on the things I am thankful for it is hard to be thankful for anything but you! Even though you are unable to move or talk to me we share such a strong connection and bond. You will only sleep if daddy and I are in our room with you and. If you could have it your way you would sleep between daddy and I in our bed every night. Nightly we fall asleep holding each others hands. You sense when you are alone and you hate it. I love watching you peacefully sleep when I wake up before you, which rarely happens because you hate to sleep.

I wanted you to know that your birth and presence in my life has made me a better person. You have made me face so many situations and emotions that WERE so outside of my comfort zone. You made me into so many things that i never thought defined me. Before you were born I was a very black and white kinda person and hated gray area's. If a decision needed to be made I needed to have all the facts/details before I would commit to anything. I never played the lottery and never invested in any high risk stocks- NEVER! I took the conservative route when allocating monies for my 401K. I hated surprises and always had everything planned out! Sometimes I was even referred to by others as having OCD - everything had its place and if I had to be somewhere at 5 I would show up at 4:45. I never took risks and enjoyed my mildly calm, routine, systematic, and sometimes boring life. Then you came along and challenged my personality and character. I am everything I never thought I was and more because of you.

I am going back to school to become an RN like your guardian angels and mommies mentors/heros (Laura, Kecia, Ramona, and Michelle your primary nurses in the ICU) and help baby's/kids just like you! You are my inspiration and no matter what happens to you I will be forever grateful!

I love you,

Wednesday, November 18, 2009

New Found Freedom

Wednesday, November 18, 2009
I first would like to extend a huge debt of gratitude (Thank You) to everybody that was involved in last weeks fundraiser for Kennedy. Whether it was a donation of food, time, money, supplies, equipment was greatly appreciated. Your support means so much to Brian and I. We feel so very lucky to be surrounded by so many amazing people!

We did not raise as much money as anticipated/expected, however, every little bit counts. With the money we raised I went down and purchased a transport vest so that Brian and I can now travel with Kennedy laying down in the backseat - yep, you heard me right. We can now drive Kennedy around while she lies comfortably in the backseat.

As I have talked a lot about in the last couple months, we have been unable to drive anywhere in the car by ourselves with Kennedy. If a trip with her was necessary, we both had to be in the car with her as we travelled. One of us was driving and the other person was in the backseat managing her secretions. Kennedy was miserable the entire time we were in the car. She would gag, throw up, choke, have difficulties breathing etc......It has been a rough couple months. I was feeling very seculded from the outside world and begining to feel down. I mean I couldn't do simple things like; run to the grocery store, go out with friends for lunch or dinner, enjoy an evening out as a family of three.

Well the problem appears to be two fold: (1) Kennedy has been having a lot of issues gagging and chocking on her secretions. They tend to overwhelm her and she becomes very uncoordinated and unable to handle them if she is in any position that requires her to swallow them. (2) Kennedy is unable to sit in a upright position. We have been given no explanation (par with the course), however, I feel that when she sits up it compress' her stomach and because she is extremely hypotonic she is unable to keep the flap from her stomach to her esophagus closed, thus resulting in her throwing up from the pressure.

It appears that we have reached a solution. On Monday I purchased this amazing piece of equipment that allows Kennedy to lay down in the backseat while she travels. I tried it out for the first time on Tuesday and it worked like a charm. No throwing up, no choking, no stressed out mommy, no paniced Kennedy........Freedom at last.

Monday, November 9, 2009

Fundraiser for Kennedy

Monday, November 9, 2009
y good friend Shannon is putting on another fundraiser for Kennedy. The fundraiser will be held on November 11th from 4:00 - 8:00 p.m. @ Central Park in Rancho Cucamonga. If you would like to participate or donate supplies please view and respond via the evite. Or donations can be made through Kennedy's blog.

Thanks in advance!!!

~ Stephanie ~

Sunday, November 8, 2009

Oh, There are Times.....

November 8, 2009
There are times that I wish I had a crystal ball. Times I wish I knew what God had planned for my precious Kennedy. Times I wish I could lay in bed all day and sob uncontrollably. Times I wish I could scoop Kennedy up and run away. Times I wish Kennedy was just like every other 15 month old.......But, there are no crystal balls and if I could see into the future and changes the hands of time I would be a millionaire.

The holiday's seem to drum up suppressed emotions. When I was pregnant with Kennedy I remember being so excited to celebrate things like; Halloween, Thanksgiving, Christmas, and Easter with her. I couldn't wait to see the expression on her face when she opened her first present, or found her first Easter egg. However, since Kennedy's birth the holiday's seem to be a time when Kennedy's disabilities are brought to the forefront. I try so hard to make everything as normal as possible, to provide my daughter with the appropriate experiences, but as time pushes forward this becomes ever so difficult.

I would do anything to change Kennedy's fate. To change her circumstances, but one thing I would never change and that is having Kennedy as my daughter.