We are very excited and honored to be raising money for TGen and to have the opportunity to help families of undiagnosed children.
Lindsey was born in May 2008. She was seemingly healthy although there were subtle things that were off. She couldn't bear any weight on her legs, she never seemed hungry, and she was a very quiet and still baby. Really in the first few months, she seemed like a dream baby...so easy to take care of. Around 6 months, Lindsey stopped gaining weight and height and also head circumference. All of these numbers were off the charts on the lowest end. She therefore was diagnosed as Failure to Thrive. She also slowly stopped eating and by age 13 months had a feeding tube. We thought she had severe food intolerance or some sort of pain associated with eating. We began seeing geneticists, GI doctors, neurologists, developmental pediatrics, a feeding therapist. No one could figure out what was going on. We traveled around the state of Virginia to see more and more specialists. Finally at the age of 2, she was referred to Children's Hospital of Pittsburgh to see a mitochondrial disease specialist and an intestinal care specialist. Over the next year, she underwent many metabolic tests and GI tests and feeding trials. In October of 2011, she was diagnosed with mitochondrial disease through genetic testing. She has a mutation in her ATP6 gene, which is complex V mitochondrial disease. To find this diagnosis, she had countless blood tests...vials and vials of blood...MRI's, spinal taps, a liver biopsy, hospitalizations... It was not easy. She currently has a GJ tube for medications, a central line for TPN, a vesicostomy because of a neurogenenic bladder, oxygen support...she is homebound for school and receives palliative care and hospice services at home.
My hope is that families will be able to forego years of testing and wondering. That they will not have to watch their child struggle and not know what to do for them because they don't have a diagnosis. That with earlier diagnosis, treatment can begin sooner. That with more research, maybe, just maybe, a cure can be found.
We wholeheartedly support TGen and their staff and their work. TGen is different because they help each family personally. All research is done for the families and for the individual children. It is easy for a family to feel isolated and lost and become just a number in a huge medical world. TGen personalizes each experience and walks with the families through their own diagnostic workup and what the results mean for them. Even more exciting, TGen is working on taking each child's individual genetic result and finding personalized treatment. Many children with mitochondrial disease take a large amount of medications and supplements. They may help and they may not. How amazing it would be to know exactly what works and what doesn't.
Please click the donate button above to join us in helping children like Lindsey and in helping to find a cure for mitochondrial disease.