At Duke

Here's Bertrand at the Duke medical center. Today, he had a nerve conduction study. Apparently, this consisted of electrocuting him repeatedly, which he did not enjoy at all.

After that, they drew lots of blood. One unusual factor that has always made drawing blood difficult is the fact that he clots almost immediately. In fact, his blood often clots in the tubing connecting to the syringe, which means he needs even more pokes. We're wondering if it's somehow related to the fact that his eyes have yet to shed a single tear--despite the fact that they do seem to produce ample moisture--another one of his strange symptoms.

According to the specialists he saw today, he's anomalous. While he's tested positive for oligosaccharides three times now, he doesn't match all of the symptoms for any of the known lysosomal storage disorders. This isn't necessarily cause for hope. Even if it's not a known lysosomal storage disorder, the fact that his body is accumulating oligosaccharides means that he'll still suffer the same effects.

The specialist he saw today is hypothesizing that it could be a neurotransmitter disorder, which is sometimes caused by a different but related kind of enzyme deficiency that is even rarer than lysosomal storage disorder. If he goes into that territory, he may be one of sixteen cases ever known. It's unclear whether a neurotransmitter disorder would be better or worse than an LSD.

The specialist also seemed to think a mitochondrial disorder more likely than a lysosomal disorder. Mitochondrial disorders involve a different kind of defect in the cellular metabolism, but they exhibit many of the same symptoms as LSD's. We really hope it's not a mitochondrial disorder, because mitochondrial disorders are even worse than LSD's. They can't be treated with bone marrow transplantation, and there isn't even the equivalent of an enzyme replacement therapy.

I'm heading out to Duke after I teach tomorrow, and I'll post more updates once I'm there.

On his way to North Carolina

Bertrand and Cristina took off early this morning, headed for North Carolina.

Apparently, Bertrand was a big hit with the North Dakota State University baseball team on the plane (pictured above).

In Good Hands

I met with a fellow professor, Guido Gerig, today. Professor Gerig is in both the School of Computing and the interdisciplinary Scientific Computing and Imaging (SCI) Institute here at the University of Utah. Coincidentally, Prof. Gerig used to be at UNC, joint between Computer Science and Psychiatry, and he knows many of the physicians we'll be seeing personally. He's even done research with several of them!

Prof. Gerig has many specialties and research interests, but one of them is advanced brain imaging and visualization, and he happens to have studied the brains of children with Krabbe's disease following bone-marrow transplantation. (Krabbe's disease is one of the lysosomal storage disorders for which Bertrand is being tested.)

Prof. Gerig assured me that Bertrand will be in the best possible hands at Duke and UNC. As parents, we can't ever hear those words enough.

Given how rare these disorders are, it's almost impossibly lucky to have a distinguished colleague so knowledgeable about Bertrand's condition.

RE: Genetic modification of umbilical stem cells for treatment of lysosomal storage disease?

Inspired by two other moms (Carrie and Chris) in the lysosomal storage disease community, I've been looking "outside the box" for possible treatments.

My first treatment concept involves altering the existing cord blood treatment for lysosomal storage disease to use a gene-modified version of Bertrand's own cord blood to minimize rejection and increase engraftment.

After a few weeks of looking into gene-modified umbilical cord blood research, I found a genetics & hematology expert at Harvard Medical School. He has done work with gene-modified cord blood for other diseases. The following is the prompt reply to the email I sent.

Cristina, this will depend very largely on the specific disease-causing gene, if found, and therefore the diagnosis. I would be happy to comment once you know this. There are not too many gene therapy trials open for metabolic diseases at this point.

FYI, this is the body of the email I sent.

I am the mother of a 15 month-old boy who is undergoing evaluation to determine which lysosomal storage disorder he has. Several such as Tay-Sachs and GM1 have already been discounted. I am jumping the gun a bit by looking at possible therapies--we are taking him to Duke University next week to be evaluated for a possible cord blood transplant (if his situation merits it). As you are well aware, there are many risks, such as rejection, associated with this treatment. With this in mind, I was wondering if you knew of anyone was capable genetically modifying his own banked cord blood to be used in the transplant? Your work with adenosine deaminase deficiency is the closest I've found. Even if a clinical trial comes too late for my son, I would like to know who is working in this area. It would make make the fight ahead of us easier knowing that others are fighting with us against this dreadful family of diseases.

Ruled Out: Mannosidosis & Fucosidosis

Both Mannosidosis and Fucosidosis are autosomal recessive lysosomal storage disorders. Mannosidosis is caused by deficient activity of the enzyme alpha-D-mannosidase. While in Fucosidosis the enzyme fucosidase is not properly used in the cells to break down fucose.

The last lab pending is for Krabbe disease. We should get the result for that back within the week.

Physical Therapy: Session 4/2/09

Normally parents shouldn't encourage scooting as a mode of mobility, but in Bertrand's case... well, we'll take what we can get. :) Any form of mobility would make Bertrand a happier baby. If he could develop sufficient hand control, there are even baby wheelchairs!

Bertrand Gets Adopted

In a shocking turn of events, Bertrand was adopted today by Angelina Jolie. Apparently, she saw his cheeks and thought he'd make a unique addition to her collection: Cambodian, Ethiopian, "Namibian", Thai, "French" (x2), and now Jiggly. We as parents didn't get any say in the matter. Angelina can just adopt whomever she feels like. Part of her U.N. ambassador perks or something like that. Matthew begged to be adopted too, but she said no.

Bertrand (above with Brad) spending quality time with his new family.