Then, early in March, we found out that Bertrand had elevated levels of oligosaccharides. Oligosaccharides are a byproduct of the metabolism of every cell in the body. When the cells fail to recycle these byproducts, they tend to store up in internal organs. The broader term for such disorders is "lysosomal storage disease." Where they store depends on which oligosaccharides aren't being recycled, but the storage of oligosaccharides causes steady, irreversible damage. There is no cure for lysosomal storage disease, and most patients die in early childhood from the progressive deterioration. This discovery sparked our quest to find out which lysosomal storage disorder Bertrand had, because there are experimental therapies available for a few of them.
Within a month, Bertrand was at Duke University and UNC for a weeklong intensive evaluation. On that trip, we learned that Bertrand's condition was much worse than we'd imagined. That trip also revealed that Bertrand was not going to be eligible for any experimental treatments. Bertrand was showing early signs of global damage to the nervous system and the brain. Chiefly, we found that his nerves and has brain were not myelinating properly. Myelin is the fiber that acts as electrical insulation around the nerves. When it is deficient, signals between nerves get crossed, leading to a mixture of numbness, pain and seizures. Demyelination is a symptom of many lysosomal (and related) disorders.
Specifically, we found that:
- Bertrand was suffering from global neuropathic pain.
- The nerves in Bertrand's extremities showed signs of processing delay.
- The part of Bertrand's brain responsible for auditory processing was not working properly.
- Bertrand's optic nerve showed early sign of atrophy.
- Bertrand's brain was no longer developing new tissue properly.
- Bertrand's brain has highly anomalous "seizure-like" electrical activity almost constantly.
- Bertrand suffered from severe acid reflux.
We recently discovered that the muscles in his throat are not functioning properly, and this at least partially explains why his speech is so delayed: he is physically incapable of making many sounds. (Unfortunately, he is also physically incapable of making many sign-language signs.)
So, Bertrand remains a medical mystery: at the intersection of all of his symptoms is the empty set. Some of his many physicians are beginning to believe that he may have a previously unknown disease. The Duke team has hypothesized that he may have a rare or new form of ataxia telangiectasia or a new lysosomal storage disorder, or perhaps some combination of both. An endocrinologist here in Utah said it's possible he has a variant of Allgrove's syndrome, in light of the fact that he doesn't cry any tears.
Long term, we're still searching for a definitive diagnosis and new experimental treatments for the oligosaccharides, but on a daily basis, our focus is on treating his symptoms, managing his pain with medications and making him as happy as he can be.