This is Samantha. She lives in Guatemala. She is only 2 months old and 3 weeks ago she was diagnosed with a very rare disease called branched-chain ketoaciduria, commonly known as Maple Syrup Urine Syndrome. Doctors in Guatemala City do not have the resources to treat this rare condition. Samantha was diagnosed at a private hospital, but due to lack of family funds she was been transported to a public hospital. They are essentially treating her symptoms, but not the disease. The disease progression has already taken some of her sight and hearing. Days matter with this disease. The progression is fast and irreversible. If untreated, progressive brain damage is inevitable and death ensues usually within weeks or months. With treatment, we can arrest the disease.
From Children's Hosptial of Pittsburgh website:
Maple syrup urine disease (MSUD) is an inherited condition caused by a faulty gene. In children with MSUD, the body cannot break down certain amino acids, the building blocks of protein. These amino acids and their toxic byproducts build up in the blood and urine, resulting in symptoms such as lethargy, poor appetite, seizures, and vomiting. The disease typically begins in early infancy. The scientific name for MSUD is branched-chain ketoaciduria. The condition gets its name from the distinctive smell of the urine of children who have it.
In the USA, newborns are tested for this disorder at birth. Because Samantha is Guatemalan she was not tested and was not diagnosed until she started showing difficiencies.
Samantha and her family need our financial support. Samantha's mom recently lost her job since she was spending all of her time at the hospital. Samantha has 3 older siblings as well.
Here is what have lined up for Samantha and her family so far:
1) The International Team at Children's Hospital of Pittsburgh is working with the doctors in Guatemala to create a plan to get her treatment at CHP.
2) We are working on housing for Samantha and her mother to live in Cincinnati for a very low cost. We will also work to find housing in Pittsbugh if needed.
3) If Samantha ends up staying in Cincinnati, a generous donor has stepped forward to fly Samantha to Pittsburgh for medical treatments.
Time is so important. MSUD progresses quickly and is not reversible. Not to get too far of ahead in treatment options, but it seems that a liver transplant could cure Samantha. That is what we want - a cure!
I am asking for donations to cover the preliminary medical costs, plus the cost of getting Samantha and her mother to Pittsburgh, and the cost of caring for Samantha's siblings back in Guatemala.
Please help if you can. Together we can save Samantha's life. You can actually help save a LIFE. How many times can you say that? #togetherwecan
- Lucas Hinegardner
- Nancy Fischer
- Eric Prather
- Laurette Hart
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