Max was born on Feb 6, 2014 as a healthy full term baby boy. By one and a half months he was sleeping through the night. He was such a happy baby and always smiling. At his six month well check up he was a little delayed with some milestones but a week or so after was sitting up on his own and rolling from his stomach to his back (he didn't like tummy time). Around 7-8 months we slowly noticed that Max was struggling to sit straight - he was a little more fussy, he stopped grabbing for things and he wasn't rolling. We thought it was something we had not done well as parents - even though Max is our 2nd child, we have a 2 1/2 year old daughter Emma, we thought maybe we weren't designating enough time to him. We took him in to his pediatrician for a 9 month well check-up and she told us to go to emergency because his breathing had become a little more shallow and something was off. She was the one that detected it first. We went to PCH and checked in early November 7, Friday - Tuesday with no real answers other than he had some vanishing white matter that appeared on his MRI (myelin was going away, that is the outer coating on your nerves and helps your brain function and protects your nerves). We were sent home and our pediatrician pushed for us to see a genetics doctor immediately because getting in to see him was weeks/months out. We got in the following week 18th and they had us do some blood work to be sent off to test for some rare disorders. On Dec 1 we went back to PCH for a neurology apt and more tests scheduled that week. The genetics doctor walked in with two neurologists with the worst possibly news - Max had a leukodystrophy (Leukodystrophies are a group of disorders that affect the white matter in the brain. The word comes from Leuko, which means white, and dystrophy, which means imperfect growth. Therefore, Leukodystrophies are characterized by imperfect growth of the white matter in the brain). And worst of all - he basically had the worst version, Krabbe Disease..
Krabbe disease is progressive degenerative disorder of the nervous system which causes the destruction of myelin, a fatty material that surrounds and insulates nerves. Krabbe disease affects approximately 1 in every 100,000 live births.
Most (85-90%) patients with Krabbe disease have the infantile form. During the first few months of life these children develop normally but extreme irritability, spasticity, and loss of developmental milestones soon become evident (typically before 6 months of age). Other symptoms include fevers, seizures, and feeding difficulties. Neurological deterioration leads rapidly to death, generally within the first few years of life.
Some patients with Krabbe disease have a later onset of symptoms (Max is late infantile 6 months to 3 years) with slower progression of the disease. The symptoms can be similar to the infantile form of the disease, but the progression is slower. (his life span is estimated to be 3-5 if he doesn't get an infection or other complication).
Early diagnosis is key. There is no cure for Krabbe Disease, and treatment is mainly supportive. If diagnosis is made before the onset of symptoms or in the early stages of slower progressing disease, stem cell transplantation can halt the progression of the disease.
Krabbe is a genetic disease and is inherited in an autosomal recessive manner. With each pregnancy, couples with an affected child have a 25% chance of another affected child, a 50% chance of a healthy child who is a carrier, and a 25% chance of a healthy child who is not a carrier. It is estimated that 1 in every 125 people is a carrier for Krabbe disease, and families with an affected child generally have no family history of the disease.
Max has a two 22 month older sister Emma and his parents are Allison and Josiah. They live in AZ.
We appreciate your support through this journey. You can follow the blog about Max at :http://www.amothershopeforachild.blogspot.com/or find his fundraiser account here:http://www.gofundme.com/kewwe4
Your love, prayers, positive thoughts and kindness is what move us forward each and every day. Thanks for following and supporting his story to bring change to each state through newborn screening.
If you would like to send Max cards or well wishes, or if you would like to get a Miracle for Max wristband (send your donation and a self addressed envelope)... you can do so here:
3820 W. Happy Valley Road, Ste 141, #219
Glendale, AZ 85310
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