Mon Amour has Gerstmann-Straussler-Scheinker Disease/Syndrome (GSS):
- It is extremely rare (1 in 100,000,000)
- It is a defect through the 20th chromosome that causes prion proteins to misfold. This misfolding is toxic, mostly damaging the brain. The damage builds up throughout life which is why symptoms are not usually seen until usually 40s and 50s.
- There is no cure or treatment; for now we treat and monitor the existing symptoms (from the Cerebellar Ataxia that GSS has caused)
- It is fatal. Cases have seen between 2-15 years from symptom onset to death. It's been at least 2 years since Mon Amour's symptoms have definitely been noticeable.
- Dementia usually sets in (and we believe we've already been seeing symptoms of that)
- Progression of disease differs in every case, even within families.
- His parents do not have it. It is "de novo"--new in him. Siblings have less than 1% chance of having it.
- But it is hereditary, so the kids have 50% chance of inheriting it. Because symptoms do not manifest until adulthood and there is nothing to be done in childhood to treat or prevent the disease, genetic counseling does not recommend having children tested until they can choose for themselves at 18. While one of our children has already asked and knows about their chance of inheriting, the others do not know for various reasons and we ask you to please not talk about the possible hereditary factor with any of them. The news of their father is already a lot to be processing.
Prion Alliance (2 scientists working to find treatments/cures for Prion Diseases in general)
We are grateful for the love and support from so many already. We are seeing numerous blessings and miracles in our lives even with the less than ideal outlook. We believe our family can be together forever and hold to the peace that brings. We know this is a part of our journey and that we "can do all things in Christ" who strengthens us, as well as the strength that comes from each of our friends and family members.
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