- CASE FILE
8 yr old twins with multiple genetic mutations, all with no cure. Rare diseases include TSC, HPP & OSMD-only 3rd in world w this mutation.
ABOUT THIS CASE FILE
As infants breathing problems were unmanageable and they were both hospitalized often. They started losing teeth, root and all before they were 2. Then they started having pain walking and the adventure of our lives began. After 3 years of being undiagnosed and misdiagnosed, whole exome sequencing finally provided us with some answers. There is so much we still dont know and can't answer. We are still searching for answers to determine if bone marrow transplants or new treatments like stem cell therapy can help their long term outcome for any of these multiple progressive, life threatening diseases. There is such a process to going down this road and finding the right doctor who will fight for answers to get us there. We traveling hundreds of miles every month to see specialists who then, only barely know these diseases.
*TSC is Tuberous Sclerosis Complex, mutation on a tumor suppressant gene. Can lead to benign growths in all major organs. They have TSC1 with currently only brain, kidney and liver involvement. They are considered mild and thankfully have not experienced seizures. This is a spontaneous mutation.
*HPP is Hypophosphatasia, a multi system, metabolic bone disorder as a result of a dominant mutation to the ALPL gene from their dad. Dor this soft bones disease there is currently only one treatment available to harden their bones, which were injections they took 3 times a week for 5 months back in 2016 (at a cost to insurance of $35,000 each child per month). This did help with major pain and fatigue at the time, but due to long term concerns with them also having unexplained hard bones, treatment was stopped.
After a few more years of still challenging medical professionals to understand what was going on with the girls having both hard and soft bones, we went ahead with a suggestion to have the whole exome sequencing redone since it had been a couple years. The results to this test were holding a missing piece of the puzzle, showing that the girls had a 2nd bone disease, with mutations to both the genes from mom and dad.
*OSMD is Osteosclerotic Metaphyseal Dysplasia. This hard and soft bones disease should be the key to understanding why the girls situation is so complicated, but because they are only the 3rd in the world to have this mutation, no one knows anything enough to actually say that. No ones knows where one bone disease stops and the other starts. The bottom line is they need to be help with research in order to determine if some of these other treatments could help them.
They also have another mutation for a more common disease called Marfan Syndrom which is also life threatening with no cure, but with the latest exome results, this mutation was further clarified to be a benign mutation.