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.