Kelly and Rory McElligott, of Highton, Victoria, Australia, have 3 beautiful children: Maggie, Billy, and Alice. But the family was shocked when two of their children, Maggie and Billy, were diagnosed with Tay-Sachs disease within the past year. Suddenly, the family is grappling with the complexities inherent within the rare disease community. Now, a GoFundMe is helping them to receive some of the medical equipment to improve their lives and their children’s care. You can donate here.
Tay-Sachs disease is a progressive lysosomal storage disease that damages and destroys brain and spinal cord nerves. It is inherited in an autosomal recessive manner, meaning that someone must have two copies of the mutated HEXA gene. This mutation causes a lack of enzymes that break down gangliosides, fatty substances that then accumulate and cause damage.
Infantile Tay-Sachs is the most common form, where symptom onset appears between 3-6 months old. Initial symptoms include listlessness, a “floppy” feeling (low muscle tone), loss of motor skills, and an exaggerated startle response.
However, continued cell death leads to seizures, dementia, muscle stiffness, paralysis, hearing loss, vision loss, and cherry-red spots in the eyes. Tay-Sachs disease is usually fatal by early childhood. Learn more about Tay-Sachs disease here.
The McElligott Family
In April 2019, Kelly and Rory noticed that something was “off” with their daughter, Maggie. She was struggling to complete some normal, daily tasks. Kelly and Rory had her tested. The results showed that the 6-year-old girl had Tay-Sachs disease. Kelly was devastated, as the condition has no cure.
Over the past year, Maggie’s condition gradually declined. She is unable to talk, use the bathroom without assistance, walk, or even eat. Seizures occur daily. Additionally, Maggie uses a wheelchair to get around.
As Tay-Sachs is an inherited disorder, the parents made the decision to test their other two children: Billy, 5, and Alice, 3. While Alice’s results were negative, Billy was diagnosed with juvenile Tay-Sachs in February 2020. Although his condition is not declining as quickly as Maggie’s condition, there are some signs like loss of coordination and difficulty speaking.
Alice, though young, is already working to help her siblings. Says Kelly:
“She puts toothpaste on Billy’s toothbrush for him and has started helping to feed Maggie.”
Still, the family is looking to purchase some specialized equipment to ensure that Billy and Maggie have the highest possible quality of life. The GoFundMe will help the family purchase:
- Wheelchair ramps for the home,
- Medical equipment,
- A wheel-chair compatible car, and
- Any funds needed for funeral planning.
Interested in donating to the McElligott family? Check out their GoFundMe.