Leukodystrophy

Overview:
Leukodystrophy (unclassified type)

Symptoms:
He began showing symptoms when he was almost 18 months old. First, it was thought that he was losing his balance and falling on his heinie, but even after ear-tube surgery, the falling increased. He started crawling (again) and even then his mobility became an issue. Stephen always loved to eat and yet he began to choke on the simpliest food. When sitting he began to slope to the side and his head would droop to his chest. By the time we received the diagnosis, his disease had progressed very quickly.

Tests/Diagnosis:
He underwent numerous blood test, a couple of MRIs and an EEG. The MRIs showed the abnormalities in his white matter in the brain. Blood tests have not been able to determine the type of Leukodystrophy.

Leukodystrophy has taken away his milestones, his ability to eat by mouth and left pain, along with spasticity in their places.

Treatments:
The treatments for him have included the following, which add to the quality of his life: Feeding tube to restore ability to receive nourishment; botox injections to help with the spasticity in his legs; Physical therapy, occupational therapy and speech therapy to improve his quality of life.

Resources:
We go to Texas Children's Hospital to the different clinics, which doesn't have a specialization for Leukodystrophy. His physical medicine doctor, gastro surgeon, dentist and others have been wonderful in treating him for the effects of Leukodystrophy. There is no cure, so we focus on whatever makes his life as pain-free as possible.

Personal Story:
My Grandson was born in May of 2009 after an unremarkable pregnancy and delivery. When he started exhibiting symptoms of something wrong, we didn't know what was wrong. After connecting with a couple of doctors who didn't feel there was anything wrong, we finally found doctors who were interested in our little guy. When we first heard the word, "Leukodystrophy" in March 2011, our hearts sunk, because we knew that there is no cure and very short life expectancy. Since that time, we have tried to stay focused on RIGHT NOW and make it as positive as possible for Stephen.

Along the way there have been moments of despair, but many more of laughter and hugs. Whatever time we have with our precious little guy, we do try to appreciate everything. Without our friends and family members, this journey would be impossible for us. They help us through the dark times and rejoice with us when we celebrate. No one who has ever met our little Stephen will ever be the same, because his purity of love works its way into everyone's hearts. We are blessed to have him in our lives.


Contributed by (Grand)MOM Bonnie Lovitt