The Peanut Gallery

Friday, July 31, 2009

The Hunt is Over....

Friday, July 31, 2009
So with the end of another month, so comes the end to our diagnosis hunt!!!! That is right, we have decided to search no more. Kennedy will be one year old in 13 days and for almost one full year I would say 40 to 50 well educated doctors from a well established reputable hospital (Loma Linda Children's Hospital) have tried to find out what is plaguing our precious peanut. When I think of the fact that Kennedy is still undiagnosed it drives me crazy - how is this possible? Well, I know that some diagnosis are hard to find but hell, they don't even have a clue! Ok, well we have a list of issues, i.e., seizure disorder, cerebellar hypoplasia, severe hypotonia, chronic lung disease, hypertension etc... but nothing that explains why all these things are happening.

This is something that we both have thought very long and hard about and I am very happy with our decision! To make things even better our doctors are all on our side (yes, all 7 of them). They completely agree and support our decision. They reassured me that they know how to care for Kennedy with or without a diagnosis!!! I don't feel that having a NAME will change anything about Kennedy. I don't think it will make her move or change her fate in any way. We love Kennedy for who she is and for whatever she has.

Our Neurologist is convinced that Kennedy has a Mitochondrial disease - which she has tested negative for. He explains that the lab work does not always yield accurate results and that this disease is very hard to test for. During our last visit back in early July I explained to our neurologist that Kennedy was beginning to coo and would smile occasionally when touched or talked to! He was amazed! I had to show him proof (via my cell phone) because Kennedy would not do anything while in his presence. He looked at me very bluntly and said, "That makes no sense", to which I replied, "Nothing she does makes sense". We both chuckled. On a serious note, he said that Kennedy's MRIs show that her Myelin (white matter) has severe atrophy and her brain has some evidence of degeneration. She should not be talking or smiling. According to her MRI she should only be digressing - getting worse, not better.

Another reason he thinks Kennedy has a Mitochondrial Disease is because every time she gets sick she goes from barely being sick to sitting at heavens front gates in a matter of days. He tells me that we should treat Kennedy as if she has a Mitochondrial Disease - it can't hurt. After seeing the concerned look on my face about treating Kennedy for a Disease that we don't even know she has, he interjects with a quick hypothetical......So, Kennedy's lab work came back negative for Mitochondrial Disease. Now I would advise that we proceed with further tests. I would order a muscle and/or brain biopsy. These test would tells us conclusively if in fact she does or does not have a Mitochondrial Disease. So, we find out she has this disease, do you know what the only treatment for Mitochondrial Disease is (insert long pause) Vitamins! So, lets skip all this testing and just give Kennedy these vitamins now. They can't hurt her even if she does not have a Mitochondrial Disease. Fair enough.....We started Kennedy on the Mito Cocktail about two weeks ago. I have noticed since we began this new regimen Kennedy seems more alert, her left hand is a little stronger (she was able to grasp a rattle while I moved her arm), and she is talking a little more. Great progress!

As mentioned earlier Kennedy will be 1 years old in 13 days. This is a huge victory for her. She defied the odds and proved all those doctors wrong that told us she would never see her first birthday. Kennedy is getting her 1st Birthday pictures tomorrow. You can see some of our photographers work here. I will post the pics ASAP!!!!!

4 comments:

Christina said...

You two are AMAZING parents and your little "Peanut" could not have better!!! I love the way your love her!!!!!!!!!

mandy said...

Awwwww Steph honestly my heart is leaping for you right now!!! You are truly one amazing person! Kennedy has defied all the odds thrown up against her! I have no doubt that precious girl will continue to astound you!!! Can't wait to see you guys!

Derek said...

Good News, no more invasive tests, hopefully just progress with the Mito Cocktail. Her resilience not only amazed the doctors but everyone that has come to know her (in person or via this blog). Happy 1st Birthday Kennedy, the first of many to come.

We love you all.
Derek

carter's mommy! said...

yeah! Good for you guys!!! I am so glad she is doing so well! I need your address to send her a FIRST birthday present! We are going to be in Utah for a family reunion. I went to Pottery Barn outlet and was thinking of you! They didn't have much this trip so we will have to go another time!!!