Mike is a handsome 18 month old boy. Prior to July of 2012, Mike cleared his milestones as any other child. All of his wellness visits were unremarkable. Mid July brought about subtle, but noticeable, differences in his crawling, standing, and walking behaviors.
Phone calls. Appointments. Pediatrician refers to an Orthopedic(Jennifer Winell). Orthopedic refers to Neurologist(Anu Venkat). Worry.
In the care of Dr. Venkat, Mike was admitted to Children's of Philadelphia on August 15th. For a couple of days he had extensive MRI, blood, and cerebrospinal fluid testing. He battled through the testing and then the adults battled the seemingly endless wait for a result.
Mike was diagnosed with late infantile Krabbe disease on August 29th, 2012. Krabbe disease is a rare genetic disorder of the nervous system. It is a type of leukodystrophy. The enzyme galactosylceramide beta-galactosidase (GALC) breaks down several important compounds in the body. In Krabbe disease, there isn’t enough GALC available, and substances which should be broken down start to accumulate. The build-up of these substances damages the nerve cells in the central nervous system, destroying many of them and preventing the repair of others. There are treatment options, but at this time there is no cure.
At Children's Hospital of Pittsburgh , there exists a literal team of Krabbe specialists, lead by Dr. Maria Escolar, eager to care for Zachary. Whatever it shall be, it is in this place that the next chapter of the story begins. Mike will have chemotherapy and a cord blood transplant within the next 10 to 12 days. Then it is a 6 month road back to a healthy immune system! Love, and Hope, is alive.
Experience shows direct medical care for a child diagnosed with Krabbe costs $700,000 annually. Even with insurance, this is a daunting number. Please give anything you can as often as you can. Also, please spread the word! 10,000 people giving a dollar get's you the same amount as 1 person giving $10,000....but if you know 10,000 people that want to give $10,000 a piece, we will take that as well! ;)