Comment from Kyrsten Lawless
AnonymousSupportIndividual
Summary: The commenter is a parent of a child with Alpha Mannosidosis, an ultra-rare lysosomal storage disorder, who argues that the FDA should loosen regulations on gene therapy for rare genetic diseases. She specifically requests a pathway for individualized gene therapy using a patient's own stem cells and advocates for broader clinical trials that cover multiple disorders rather than single specific diseases.
We know the cause - exact mutation, variants,etc. (Whole exome sequencing)
MAN21B, c.2426T>C (p.LEU809Pro), c.562C>T (p.R188)*
My daughter has a whole lifetime of data in Mychart from procedures, blood work, weight, psychological eval, etc.
Use AI to look through this data to find something that can help her, and focus on mutation specific cures/ treatments that pass the blood brain barrier.
Tell me what I need to do as a parent, in order to get her a better treatment option.
She suffers most due to quality of life, as parents we really struggle as well.
Doctors are reluctant to try anything with her, because of what she has. Can we get creative and see if any other medications approved for other disorders could help her? Look into supplements, nontraditional pharma?
Provide access to wellness (sauna, whirlpool, red light therapy, etc) through Medicaid.
Treat these conditions and give them priority like autism is. She really should qualify for every kind of support, and waiver program possible. We don't qualify for anything.
I have attached a pdf file that tells her story