For this particular post, let’s start with all the necessary legal disclosures.
The statements contained herein have not been evaluated by the Food and Drug Administration. The information contained in this blog is intended for educational purposes only. This information is not intended to be used to diagnose, prescribe or replace proper medical care. The information described herein is not intended to treat, cure, diagnose, mitigate or prevent any disease. Always consult a physician before initiating any supplements or regimens.
On this journey, there came a point where we had to determine our philosophy of care. When your doctor tells you there is practically nothing s/he can do for your child, it might alter your perspective on medicine. Some people have relatively strong opinions before encountering a condition such as GM1. If so, perhaps those opinions guide their philosophy of care immediately.
Our philosophy of care continues to evolve and we will allow ourselves the space to change our philosophy depending on the challenges we encounter and the decisions that will need to be confronted.
Last year, we briefly corresponded with a father from a foreign country who told us he developed a homeopathic regimen and medicine that ceased the progression of GM1 in his child. Initially, he offered to send us the medicine he created free of charge. He told us that people in countries other than his own are unaware of the treatment he developed. He described a regimen of oral enzyme supplementation of beta-galactosidase, a lactose-free diet, and oral aloe supplements. The enzyme supplement was prepared by a homeopathic pharmacy in his country using beta-galactosidase obtained from Novo Nordisk. Beta-galactosidase is the particular enzyme that is deficient in those suffering from GM1 Gangliosidosis.
Our doctors told us very clearly that they never heard of this regimen and it would be unsafe to administer any medicine, homeopathic or not without truly knowing the contents of it. Simply put, while unlikely, something bad could occur. Finally, there are no official or peer-reviewed papers/studies outlining the scientific validity of such a regimen.
Ultimately, we dismissed the idea of using the enzyme from this father. The intriguing part was the thinking behind the elements of the regimen and also the true sincerity of this man’s belief in his treatment.
There is an amazing true story about another father named Augusto Odone who developed a treatment for a disease called adrenoleukodystrophy (ALD) for his son Lorenzo. There is a widely released film that portrays this particular story. It’s called “Lorenzo’s Oil.” This film was released in 1992, starring Nick Nolte and Susan Sarandon. The father we encountered likened himself to Odone. Adrenoleukodystrophy is not considered a solved problem today and it is a truly devastating condition just like GM1. If “Lorenzo’s Oil” is administered early enough, it is thought by some to be helpful to asymptomatic ALD patients. Augusto Odone received an honorary doctorate for the creation of Lorenzo’s Oil from the University of Stirling. His son lived to 30 years of age, well beyond the life expectancy estimated by his doctors.
Doctors told us that there are many unfortunate stories about desperate parents being duped by people who claim to have a cure for GM1. The father we encountered wanted very little in return for his medication and he seemed sincere. Upon examining images of the father’s child and news coverage from his country, it appeared that his child was still afflicted by GM1.
The father’s explanation was that the proposed regimen was not a cure, but mitigated the progression. He said his child received the treatment too late and that the treatment could not reverse the disease completely. He said his child’s vision improved. His child wore glasses and then no longer required them. The father went as far as to say that his treatment helps infantile/Type 1 cases which are the most severe. I asked if there were other GM1 families who could confirm these results. He offered us one email address of a grandfather of a GM1 child in the US. We managed to contact the grandfather who said his grandchild did not experience any benefit from the regimen.
We asked some doctors about the oral enzyme supplementation. They were very doubtful it would be of any assistance. The reason is that although beta-galactosidase is readily available, it is composed of molecules too large to cross the blood brain barrier. GM1 is most problematic because of the effects on the brain and central nervous system. Furthermore, the doctors said the enzyme would not be distributed in the body beyond the large intestine. Nonetheless, the intriguing part of oral enzyme supplementation is something called the gut-brain link, the notion that the gut can influence the central nervous system. There are also probiotics available that are sold based on the premise that they increase beta-galctosidase production in the gut. We consulted a naturopathic doctor who thought enzyme supplementation from a known source in the US would be worth trying.
The father’s idea that his child should follow a lactose-free diet is because beta-galactosidase is the enzyme responsible for metabolizing galactose. A major dietary source of galactose is lactose. The idea is that reducing the intake of lactose might cause the body to require less beta-galactosidase. Lactose-free milk sold to people with lactose-intolerance is created by adding beta-galactosidase to milk. This particular idea seems logical from a layperson perspective. If your body has a deficient supply of an enzyme used to metabolize galactose, it might not be a bad idea to avoid foods containing galactose.
The problem with this idea is that beta-galactosidase is also required to metabolize galactans. Galactans are a type of complex carbohydrate contained in legumes, such as baked beans, kidney beans, chick peas, soy products and so on. Galactans are also present in green and yellow (wax) beans, cabbage and brussels sprouts and plant tissues. Furthermore, galactose can be produced within the body through hydrolysis.
It’s very hard to eliminate all sources of galactose from the diet. One doctor said galactose is required by the body, required for life. Still, there is an interesting coincidence that we observed. The clinical trial we are participating in combines the ketogenic diet and the medicine miglustat. Due to the ketogenic diet, Iris consumes no lactose and hardly any vegetables, especially the ones with galactans. This means that her consumption of lactose and galactans is extremely negligible.
Another interesting tidbit is that people who have a lactose intolerance take lactase. A particular form of lactase is beta-galactosidase. The enzyme that is deficient in GM1 is available in pharmacy’s everywhere at very minimal cost. People take lactase supplements freely and without fear because it is effective in addressing lactose intolerance. Finally, this is likely unrelated, but curiously, Iris was lactose-intolerant as a baby.
Now onto discussing oral aloe supplementation. Aloe drinks are widely available. Aloe is an ancient treatment dating back to the dawn of civilization. Still, there are definitely some warnings about ingesting aloe. Most people think of it for topical usage, e.g., cuts, burns, itches, and bug bites. Oral aloe is also a homeopathic remedy for constipation.
Interestingly, there is a publication from May 2013 in the Journal of Alzheimer’s Disease that claimed that a mixture called Aloe Polymannose MultiNutrient Complex (APMC) reversed the effects of Alzheimer’s disease, a neurodegenerative condition just like GM1. Aloe or mannose is thought to cross the blood brain barrier by some. If you search around the internet, there are some people who claim diet, enzymes, and/or aloe cured them of horrible conditions such as cancer and autism. Of course, these miraculous stories lack hard evidence and one has to wonder if such cases have been verified. However, there is true science that ties mannose to cellular trafficking and recycling in what is called the mannose-6-phosphate pathway.
The depth of our desperation to save our sweet girl is now completely evident. Who in their right mind would go so far as to research all these claims? We’re not scientists or doctors, but given such a rare disease, there are not a whole lot of people out there with whom to discuss all this.
Our palliative care team told us that people want to try things out because it can be very difficult psychologically to do nothing. One should be careful with all these decisions and consult doctors. Finally, the reality is that even if a “cure” were to arrive tomorrow as an official clinical trial, it would most likely involve brain surgery and would be fraught with many unknowns and risk. So many of these questions and issues are very interesting academically. However, when the life of a loved one is involved, it’s not academic. It’s all very real.