A Journey into Finding Answers
Our journey began in February 2021. Our daughter Cynthia presented a different way of walking than other children. We assumed that she was growing and that the problem would correct itself. We were concerned when Cynthia stopped wanting to run around with other children because her running slowed down. We made an appointment with an orthopedic surgeon and, after reviewing the x-rays, the doctor told us she had Perthes disease, a rare childhood condition affecting the hip joint from a lack of blood supply.
A few days later, we received a phone call from the doctor recommending a second opinion from another orthopedist doctor because he was not 100% sure about our daughter’s diagnosis. At this new appointment, the orthopedist doctor asked us if we would like to have a genetic test performed on Cynthia. The results of that genetic test plunged our family in a direction we never expected. We will never forget sitting at the genetic counselor’s clinic and listening in disbelief. Our precious daughter was diagnosed with MPS VII, also known as Sly Syndrome.
MPS VII is a genetic condition that is estimated to occur in 1 in 250,000 newborns. It is one of the rarest types of mucopolysaccharidosis and can cause skeletal abnormalities, mental disabilities and reduced function of the heart, lungs, liver, and spleen. Individuals with MPS VII tend to have significant problems with bone formation and growth. It is caused by a deficiency of an enzyme responsible for breaking down large sugar molecules called glycosaminoglycans (GAGs). The inability to break down GAGs leads to a buildup in many tissues and organs of the body.
Coping with an Ultra Rare Disease
Receiving the diagnosis of an ultra-rare disease was an unexpected journey and had an impact on our family. I recall going through an arduous journey of shock, denial, and grief. We began frantically researching Cynthia’s condition and looking for signs of hope. We visited a second genetic counselor to double-check our daughter’s diagnosis, and he confirmed the previous one. However, when he told us that just 10% of the approximately 7,000 rare diseases have a treatment and that we were among the fortunate ones, that gave us hope. Since Cynthia was diagnosed, we have done a lot of research to learn how to help her manage her disease. We have met other members of the MPS community, and we have attended family conferences to continue to support her and educate others.
Our daughter is now 7 1/2 years old and has been an ongoing inspiration to those affected by MPS VII. She is a lovely child with a huge heart, friendly with everyone around her, and an animal lover. She receives her treatment at an infusion center. While home infusions are possible for our daughter, we would like Cynthia to know that she is not the only one with a rare disease and have an opportunity to meet other kids with different conditions who also need treatment. We hope that newborn screening becomes available for everyone for an early diagnosis.
By Amy Alix, Cynthia’s mother
Mucopolysaccharidosis Type VII (MPS VII)
Learn more about mucopolysaccharidosis type VII, accessing related resources, and finding opportunities to participate in research for MPS VII.Learn More about MPS VII
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