Our journey began when our son, Noland, was 10 months old. We took him for his 10-month check up and the doctor measured his head which was at 95%. This was a concern but they decided to wait a couple of weeks. When we came back it was over 100% so they decided to run a scan. A few weeks later, the hospital called saying they found some abnormality. We went to the neurologist, and that’s when they told us that Noland had leukodystrophy. We did not know what type he had so they began the tests. They first tested for Alexander’s disease, then Cannavan disease, both came back negative.
After a year of research, we came across the United Leukodystrophy foundation conference. We decided to check it out — Shannon (Noland’s aunt), Noland and I went to the conference where we met Dr. Van der Knaap who looked at Noland and told us she believed he had MLC2B leukodystrophy. She asked us to send her all his scans. On seeing them, she was certain he had it but the only way to confirm was to have him do blood work. So we did and a few months later, it was confirmed Noland had MLC2B.
Since the diagnosis, his journey has had its ups and downs. Between his epilepsy, behavioral and medical problems we have always been on our toes. Because of Noland’s diagnosis we were able to set up testing for his little sister a month after she was born. She too has MLC2B but I am grateful we were able to diagnose it early and fast.
Noland is 9 and has been seizure-free for a year. He is globally delayed but is very smart and loving in his own way. He loves to play on his tablet and is part of the special Olympics team. He loves everyone and has a sweet soul.
Aryabella, his sister, is 2 1/2 years old and has been making so much progress. She is loving, definitely has her own personality, loves books and is a mommy’s girl. As a parent of two kids with MLC2B, it’s challenging and exhausting. But my kids are my world and I will do anything and everything for them.
Photo: My husband, Tim, with myself, Becky, and our kids, Jordan (14 now), Lealand (13 now), Noland (9 now) and Aryabella (2 1/2 now).
