Do you know of someone with a rare disease? Your answer is probably yes. Although rare diseases individually are, of course, rare, when they are put together, they impact many people.
Definition of a rare disease: a disease that affects fewer than 200,000 people in the United States. However, there are about 7,000 rare diseases.
Now how about ultra-rare diseases? Well, as the name implies, they are even more rare. Extremely rare diseases are sometimes referred to as ultra-rare, with a prevalence of <1/50,000 (less than one in 50,000). You may not know anyone with one of these, but for those who do have them, they are often completely debilitated, or it is a death sentence. If science prevails, however, maybe we will only speak about those who used to have these ultra-rare diseases.
The Cost
It always seems to come back to money. For studies on diseases to be done, they must be financed, and then those who work on and find a cure or medication can stand to make a lot of money because said treatment or drug is mass-produced and prescribed. However, in the case of an ultra-rare disease, because each one affects so few people, there is no money in coming up with these cures.
Custom Medicine
It was a mom (no surprise there!) who has pushed for thought around how individualized drugs for ultra-rare diseases could be both simplified and accelerated. This was after her daughter, Mila Mokevec, was diagnosed with an ultra-rare disease. She created a foundation in her daughter’s name with the goal of finding a treatment for her disease and paying for it. All this work did succeed, and her daughter did access a treatment called antisense oligonucleotide (ASO). Mila did pass away in 2021, and her mom continued her advocacy mission for others. She did this advocacy in the US and Britain with many other advocates and scientists.
In January, Britain changed the rules. A girl (patient A) was to be a cohort in the hopes of proving a standard set of procedures that can grant a process approval for ASO treatment. Those who can be treated with this individual treatment, but a similar process, must have a fatal or life-threatening neurodegenerative disorder. It also currently specifies a particular ASO that is well understood and that only requires tiny changes to customize it.
The point is this could lead to promising things for those with these conditions. Here in the US, the FDA said they were looking at similar work as Britain did by bringing in foundations, genetic sequencing data, and regulatory organizations to bring stakeholders together to come up with a way to regulate these custom medications.
What does this science mean?
More children with these life-threatening diseases can not only live but also thrive. AND this can be built on to help more people. What helps one helps all.
Care Answered has had clients with rare diseases, and we have seen how devastating and hopeless it can seem to families. Hope is still here!
If you know someone with a rare disease that needs support, contact us at Care Answered: nicole@careanswered.com
Rare Disease Day is February 28th. Here also is a list of some rare disease resources:
- https://rarediseases.org/rare-disease-day/
- https://www.health.ny.gov/diseases/rare_disease/
- https://raredisease.pafcareline.org/
- https://rarediseases.info.nih.gov/contact