Tuesday, August 10, 2010

Warrior Spirit

Yesterday, everything became official. Genetic testing has confirmed that Cole has been diagnosed with Dravet Syndrome, a rare form of epilepsy. This diagnosis, to someone that has seizures, is equivalent to cancer.

I could go on and on about sodium channels, proteins and other complex stuff related to this, but the bottom line is; things have changed, yet again, forever.

We know that epilepsy is not rare, it is something that we constantly try to tell people. More people are diagnosed with epilepsy each year than breast cancer. You have a 1 in 40,000 chance of having Dravet, however, so we have become connected with a new group of warriors-Rare Diseases.

It varies, the prognosis, from child to child that is diagnosed with Dravet. There are some that end up retaining skills, most regress. This means that as time goes by, Cole will get worse. He can lose functions and abilities that he has right now. Up to the point that he will be completely dependent for the rest of his life.

At this time, this means that Cole will always have seizures. He most likely will not be able to attend regular school. He won't be able to go on camping trips, go on a mission, live on his own, get married, have children, and a whole bunch of little things in between. He will struggle with learning, and his speech will probably always be delayed. He may even develop orthopedic problems and lose muscle mass. Time to add Physical Therapy to our list. Some have problems relating to others, so it could turn out that our social butterfly will regress and become similar to someone that has Asperger's.

We know that things can change. With research, hopefully they can find a cure, or maybe better medications. We know from 30 years of experience that a diagnosis isn't everything. We could tell quite a few doctors, "Take that!"; who said that I would be dead or severely retarded. We are preparing for the worst and hoping for the best.

At this time it seems that Cole also has some other diagnosis that has not been categorized. With the gene mutation, EEG (which has gotten worse by the way), seizure pattern and everything else related to Dravet-he fits the bill. However, he also has atypical symptoms. His sensitivity to light, overstimulation problems, eye problems and other things are leading the physicians to believe that there is also something else going on. It is most likely that Cole will never get full control of his seizures through medication and it is possible that he will remain on the ketogenic diet for a long time, instead of two years.

We need to gather our warrior courage and fight. Please e-mail, call and send letters to your congressmen and women about The Creating Hope Act 2010, S 3967 . This will allow pharmaceutical companies to have an incentive to research drugs for rare childhood diseases. Cole deserves your support. Our other friends in the special needs group do too. Our friend, Bertrand, has an undiagnosed rare disease. His mom explains the bill in more detail. If you have been lurking around, just reading our story, today is the time to take action. I don't know how long I will have Cole, but I know that I want him to have the best life possible, and this bill might be a start.

It could mean that Cole could go to a birthday party, and have friends. We were brave and tried to go to one yesterday. He lasted around 10 minutes and had a tonic clonic seizure. Please join us in our fight.

4 comments:

  1. Niki,
    Your story is so similar to my son Ryan who also has Dravet syndrome. he was diagnosed when he was 8 yrs old. We have found great support through the IDEA League. They support families and those with Dravet syndrome. There is one med for our children but not yet FDA approved in the US. You can read more about my son at www.rallyforRyan.net.

    This is a journey many of us are taking together. We acutally have a conference August 26-29th in Greenwich Connecticut... www.IDEA-League.org

    You can contact me any time
    Kiki03@bellsouth.net

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  2. Wow Niki. I'm so sorry to hear about what is going on in your, Brian, and Cole's lives. You all are in my prayers!

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  3. I'm so sorry. That must have been so hard to hear as a mom. Cole is such a little sweetie. You're in my thoughts and I'll be following along here.

    I'd love to help with the bill but I'm in Canada.

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  4. Hi Nicole, my name is Georgia. I found your blog after hearing about your story on the news. We have so much in common, I just had to write you a note. Our 12 year old son Marc has Dravet's. We started the ketogenic diet when he was 18 months and we have had Sophie, our service dog for 6 years. Marc is on 4 different seizure meds., 2 we have to get outside of the country (not covered by insurance). Marc has fewer seizures now and they don't take us by surprise as much as they did when he was little. I do remember the days like you describe, always scared to leave the house. I will say that it gets better. We have learned to continue to live our lives while dealing with our circumstance. Marc is our angel, as Cole is yours. Good luck to you. If my experiences can be of any help to you please contact me. For some reason it always made me feel better when I could talk to someone who could really understand what I was dealing with. God bless, Georgia

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