June 2, 2009

High-level summary

I think it's worth summarizing all that we've learned about Bertrand from time to time, particularly for our newer readers. Before March, we thought we were dealing with global developmental delays and a movement disorder. His bloodwork contained anomalies (elevated AST, ALT and AFP in the liver), but no answers. Elevated AFP does indicate a very small number of known disorders, including one fatal movement disorder known as ataxia telangiectasia (AT), but Bertrand's gene test for AT was negative.

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.
Labs were drawn up to test Bertrand for essentially the full battery of known lysosomal storage disorders. To date, nearly all of those labs have come back, and they have all come back negative. A few labs remain out. If all of those come back negative, we will proceed with a liver biopsy and a muscle biopsy to check for the remaining known lysosomal storage disorders.

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.


  1. I enjoy reading your blog for the medical aspect of it all, but my heart goes out to you as your try to figure out what is causing all of this in Bertrand. He is so gorgeous and though his pictures looks so so sweet. :)

    I know that you all have tested for the point mutations of mitochondrial disease and those have come up negative. But something you wrote jumped out to me...Bertrand's elevated AFP.

    My son, Nathan, has had elevated liver function labs in the past and the one that has been routinely elevated was his AFP. Ataxia Telangectasia was mentioned quite a few times in our diagnostic process, and his elevated AFP earned him an ultrasound of his liver to rule out hepatoblastoma. In the end, no one could figure out why he had elevated AFP, and his hepatologist believes that it is due to his disease presenting in his liver.

    Nathan has mitochondrial disease...and like you probably know, it is a multi-systemic disease that can range from mild to severe. I'm not trying to convince you that Bertrand has this, but I would recommend that when you do the biopsies, that you specifically request that they been sent off for mitochondrial testing. Nathan had a live biopsy done in Atlanta with on of the leading mitochondrial specialists. I highly recommend him!

    Please feel free to email me if you have any questions whatsoever: amberferrell@gmail.com

    And give that Bertrand a big ole' hug! He sure is a cutie pie!

  2. I am learning the true meaning of the Bertrand Russell quote being enacted through concrete actions being reported so methodically in these blogs. What a cutie and what a great teacher you are, Bertrand Might, at the same time! I guess I never could say this of any one of the teachers I know. All the power to Bertrand's parents - you are setting a standard of excellence for parenthood that few can come close to.