Together, Sarah Hutchesson-Webb and her fiancé Jake Powell have built a beautiful life together. They welcomed sons Hunter (5) and Aston (2) into the world—and wanted to round out their family with a beautiful, bouncing baby girl. Their prayers were answered when Sarah became pregnant with daughter Mia. But the family now faces an unexpected and heartbreaking obstacle after Mia was diagnosed with Tay-Sachs disease.
Mia’s Story
According to the Daily Mail, Mia seemed to develop normally for the first few months of her life. Her parents noticed some developmental regression when Mia was around ten months old. They pursued doctor after doctor, specialist after specialist. After a six month journey, an MRI confirmed that Mia had Tay-Sachs disease.
It felt like a shot to the heart. Sarah and Jake dove into research—but the answers they found were only more terrifying. There is no cure for Tay-Sachs disease. Treatment is symptomatic and supportive. The life expectancy of children with Tay-Sachs disease is 3-5 years. Suddenly, Sarah and Jake found themselves facing an uncomfortable and saddening truth: they would most likely not see their daughter make it to late childhood. They are still processing the diagnosis and find it difficult to let Hunter and Aston know what is going on.
Right now, Sarah and Jake are committed to making the remainder of Mia’s life as comfortable as possible, as well as to raising awareness of Tay-Sachs disease. They say that Mia has shown them how to appreciate the little things, and they want to give back by sharing their story far and wide.
Their community has also supported Sarah and Jake through this trying time by raising funds to support Mia’s care and help the family with any expenses. If you would like to donate, you may do so via this GoFundMe.
Tay-Sachs Disease: An Overview
HEXA gene mutations cause Tay-Sachs disease, a rare inherited neurodegenerative disorder. Normally, this gene encodes for the production of hexosaminidase A, an enzyme that breaks down fatty substances called gangliosides. In Tay-Sachs disease, not enough hexosaminidase A is produced. As a result, these fatty substances accumulate in the brain to toxic levels, causing progressive central nervous system (CNS) destruction. Tay-Sachs disease is characterized as a lysosomal storage disease. In the infantile form, which is the most common form, symptoms manifest around six months old. Unfortunately, this disease is often fatal by age five. Symptoms may include (in progressing order):
- Fatigue and listlessness
- Development regression and loss of acquired skills
- Hypotonia (low or “floppy” muscle tone)
- Irritability
- Exaggerated startle response to sudden noises
- Hearing loss
- Involuntary muscle spasms
- Progressive vision loss
- Muscle stiffness
- Cherry-red spots in the eyes
- Muscle paralysis
- Seizures
- Dementia
