The following is a repost from a series of entries made on my personal Facebook page, a play-by-play leading up to our current situation that has me typing away here in Minneapolis.
So, today started off like pretty much any other Monday: Armand, my alarm clock, oversleeping. Luckily we were cancelling his physical therapy appointment today due to him having been sick last week. A little while later Lindy came and picked him up so she could spend some time with him, and I got ready for work. The day continued until my cell phone rings, Lindy calling. Crying. She has news that Dr. Collins, who is Armand’s neurologist at Cicinnati Children’s Hospital had called with a tenative diagnosis for Armand: GM1 Gangliosidosis.
Yeah, I’d never heard of it either.
From my research, in layman’s terms, it’s a metabolic disorder that results from a deficiency in the enzyme acid beta-galactosidase-1, which results in a buildup of gangliosides, lipids within the cell membranes that help regulate cell-to-cell signals. When these lipids are used up, they are usually carried out of the cell as waste, but with this disease, they are sometimes left to build up until they become toxic to the cell itself. This particular version of the disease (GM1) is concentrated in nerve cells.
Of this GM1, there are three versions. First is infantile, usually expresses itself within the first 6 months if not at birth, and is the most severe. Children are usually blind and deaf by age 1, and most die by age 3, many times from a heart attack or pneumonia. Third is adult-onset, coming about any time after age 3, which is the slowest form. Armand most likely has the second, referred to as late infantile or juvenile, coming on between 1 and 3. Symptoms include ataxia (trouble walking), difficulty with speech, seizures, and possibly dementia.
The outlook is not good. There is no cure. There isn’t much in the way of treatment, outside of anti-seziure medication. Bone marrow transplants have shown to slow the progression, but no real long-term benefit. Some research into gene replacement treatment has been promising, fingers crossed for that. Overall prognosis is that he may not make it to age 13.
In other news, he is going to get hearing aids at some point so he can better hear how much he is loved. He also has a few more tests coming (eye exam, echocardiogram, ekg, and a second MRI). I can’t wait for these tests to be over so he can quit being poked and prodded for a little while.
Some information can be found at http://www.hideandseek.org/. Luckily, it seems Cincinnati Children’s has a whole treatment center dedicated to lysosomal diseases like this.