Taylor’s Journey: Family raises awareness for daughter’s rare genetic disorder
HANOVER, Va. (WWBT) - A Hanover family is determined to see their little girl grow up and get stronger every day, despite being diagnosed with Gaucher disease, a rare genetic disorder.
One-year-old Taylor Sparks is undergoing several treatments to keep thriving; her story and journey have now reached people across the globe.
“I just love when she does this babbling, and she just talks and she laughs,” said Taylor’s mother, Ashley. “She’s doing everything a normal 14-month-old baby should be.”
The first days of Taylor’s life brought uncertainty for her parents, who say at 2 months old, doctors realized something was abnormal.
“[The doctor] didn’t sugar coat it, said it probably wasn’t going to be good,” said Scott Sparks, Taylor’s father.
The rare genetic disorder means you are missing an enzyme that breaks down fatty substances in the body called lipids. Without the enzyme, fat will accumulate in the liver, the spleen and bone marrow. Gaucher disease can also impact the lungs, brain, eyes and bones.
There are three types of Gaucher Disease:
- Type 1: The most common form of the disease in western countries, making up roughly 95 percent of patients there. Symptoms include spleen and liver enlargement, bone problems, and fatigue. Brain development is normal.
- Type 2: This type is rare and involves severe neurological (brain stem) abnormalities. It is usually fatal within the first 2 years, and it is currently untreatable because of the severe, irreversible brain damage.
- Type 3: This type is rare in the US and Europe; however, it is the most common form of the disease worldwide. Gaucher disease type 3 has a severity between types 1 and 2, causing the same symptoms as type 1 plus some neurological involvement. While patients typically have a shortened lifespan, some can live into their 50s with treatment.
Taylor has been diagnosed with Type 2/3, and for a year has been receiving enzyme replacement therapy, she also needs daily medication. She recently began at-home infusions, a milestone for the family.
“Studies done in 2016 with an over-the-counter medication called ambroxol. It is basically like Mucinex, something similar but it is not available in the US or Canada, show it cleans up excess fat deposits in the brain,” said Scott Sparks.“[Her specialists] have no doubt that is the reason she is doing so well today.”
They have continued to get the medication from Germany, connecting with people globally. The family says it is essential for Taylor to continue to develop and grow.
“We immediately posted on Facebook, this is what is happening with Taylor, this is what we need, and eventually it got to around the world,” said Ashley Sparks. “We have a few contacts, but it is expensive to ship. They send what they can, but it is limited amounts at a time.”
As Taylor gets bigger, she will need more than the 50 tablets she currently finishes in a week. Her parents say it is important she takes the medication every eight hours.
The Sparks say their journey has introduced them to a “Gaucher family,” meeting people all over the U.S. and the world, from Atlanta, Georgia to Pakistan. They have not only received guidance and support from other families, but they have been able to help others in their journey with the disease as well.
“We are just so thankful for this community coming together for her, somebody, a child that a lot of people just haven’t met,” said Ashley Sparks. “I don’t want people to think of her as a diagnosis; I want her to be happy and live life to the fullest.”
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