Our beautiful daughter, Jordyn, has been diagnosed with a rare, degenerative and life threatening lysosomal storage disease called GM1 Gangliosidosis. GM1 Gangliosidosis is a metabolic disease that occurs when the same defective enzyme gene is inherited from each parent. It is estimated to occur 1 in every 100,000 to 200,000 live births.
Our cells contain something called lysosomes.
Lysosomes can be thought of as cellular recycling centers. Each lysosome is made up of approximately 50 different enzymes that break down waste materials or cellular debris. When one of these enzymes fails to function properly, the material that it was responsible for breaking down begins to accumulate. The result is a lysosomal storage disease. GM1 Gangliosidosis is one such disease. GM1 Gangliosidosis is caused by a deficiency of the beta-galactosidase enzyme, which results in the abnormal storage of acidic lipid materials in the cells. The accumulation of this material ultimately impacts the development of internal organs, connective tissue/bones and the central nervous system. There is currently no cure for GM1 Gangliosidosis and the treatments are mostly symptomatic. Children with the infantile form of this disease usually do not survive past age 2.
What Research is Being Done?
Although enzyme replacement therapy and bone marrow transplants/stem cell transplants have been successful at stopping the progression of some lysosomal storage diseases; unfortunately, these treatments have not proven to be effective in altering the progression of GM1 Gangliosidosis. Therefore, they are not options for Jordyn.
Active research in the areas of chaperone therapy, gene therapy and substrate reduction therapy for GM1 Gangliosidosis is ongoing, but has not advanced to human trials.
To date, chaperone therapy has shown the most promise as a potential treatment for GM1 Gangliosidosis. However, its clinical effectiveness has only been tested on mice. GM1 Gangliosidosis model mice that were orally administered this treatment demonstrated enhanced enzyme activity, reduced substrate storage and reduced neurological deterioration clinically. Moreover, no adverse side effects of this treatment were noted.
The problem is getting FDA approval for a new drug or therapy takes a long time (10 – 12 years often) and costs millions of dollars. Before human testing you first have to prove efficacy in animal models, then test for toxicity in animals, then on small numbers of healthy human volunteers, then larger scale double-blind placebo-controlled clinical trials, and so on. Finally, drug companies have to see a profitable market before committing to the costs. Unfortunately, diseases like GM1 Gangliosidosis are so rare that there isn’t much of a profit to be gained in developing a cure.
That’s why the best hope comes from the clinic, where clinician-researchers working in the field encounter particular cases, and can try-out new procedures and modalities of treatment and report them in the literature. Where there is otherwise little hope, practitioners might choose to try out the treatment experimentally in individual cases, thereby building up a body of ‘working knowledge.’
I have raised this possibility with the metabolic doctor that is overseeing Jordyn’s case, and she is looking into it. However, this would involve subjecting Jordyn to one of the first human trials of this treatment, and all of the inherent risk involved in such an undertaking.
Victor and I have been teaching in Kuwait, and are currently in the process of relocating back to Canada in order to better meet Jordyn’s medical needs. Our careers have been put on hold and our lives are currently reeling, seemingly out of control.
In the face of such a devastating diagnosis, we are struggling with so many difficult questions and emotions:
How can we as a family honor this experience without being destroyed by it? How can we best use the limited time that we have left with our daughter?
– Should we be aggressively chasing treatment and raising awareness for research towards cures for such diseases? Or should we let go of trying to search for a cure, or a miracle, and focus our energy instead on the time that we do have with her?
How can we best protect our daughter’s gentle spirit to ensure her quality of life?
– Should she be home with us having as normal of a life as possible for the time that she has? Or should we allow invasive, and potentially painful medical interventions and surgeries knowing that they are only addressing the symptoms of a degenerative disease with no cure?
How will prolonged hospitalization impact her quality of life?
How does pain impact the soul?
When is enough enough?
Is Jordyn’s journey the result of the sheer randomness of life, or is part of some greater reason or plan?
At this point I believe that the only control that we, as a family, have are the choices that we make in response to the circumstance that we are presented with. I believe that the only inevitability is change; whether it is for the good or the bad. For my part, I will continue to try to make the most of whatever change the future holds for us by honoring the experience of Jordyn’s journey with all of the integrity, compassion, humility, and love that I have to give.