Frances is almost 12 years old. We first started to notice something wrong when she was 3. She was diagnosed with speech and other developmental delays along with ADHD.
What started as seemingly subtle delays and inattention eventually turned into tremor, drop seizures, and myoclonic jerking.
Recent evaluations show she is half her age developmentally, and via genetic testing we recently received a definitive diagnosis.
Frances has an extremely rare genetic mutation of DHDDS. She is 1 of 6 known cases in the world. While there was no hope for a cure a decade ago, medical science is now in the experimental phases of developing treatments for rare diseases.
Unfortunately, because this is so rare, it receives very little research funding. These types of diagnoses leave families isolated and overwhelmed with the gargantuan task of raising the funds that go to improving and hopefully saving the lives of the people they love. There is no insurance company to go through. There are no medications that exist.
Due to the lack of data and people diagnosed with it, our only hope that has emerged so far is personalized medicine. We are yet to have confirmation that Frances is a viable candidate. Every day that goes by is a ticking clock. For the few people/kids diagnosed with DHDDS, desperately chasing researchers and scientists is a full time job. These treatments can take time to develop which can be a terrifying thought. They can also cost up to 5 million dollars.
Frances has changed our lives with her compassion and strength. We want to continue to see her laughing, singing, dancing, telling stories and jokes, giving hugs, and being her magical social self. Help us alleviate her physical and mental challenges that cause her so much frustration, anguish and pain. She is approaching adolescence which for some with rare neurological disorders can be the beginning of decline.
So far she already experiences seizures, hypotonia, ataxia, scoliosis, tremor, migraines, anxiety, frequent nausea and vomiting, photosensitivity, joint pain and muscle weakness. All a direct result of this disease. We live in fear daily that the worst is yet to come.
We’re accepting donations from those able to help fund cures/treatment, different therapy avenues, and we hope to begin to build a DHDDS community. Any money raised beyond Frances' treatment goes towards other research/families affected by this disease.
Thank you for the love and support.
Zoe, John & Frances
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