A mother’s campaign to raise awareness and funds was sparked by her daughter’s diagnosis with a rare and terminal illness.
Morgan Rachal, aged 29, noticed alarming signs in her baby, Lydia, such as recurring ear infections, sleep disturbances, and gastrointestinal problems.
Rachal’s mother (Lydia’s grandma) took it upon herself to research and came across two other children, Hayden and Olivia, on social media who had been diagnosed with Sanfilippo syndrome.
Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a genetic disorder that affects the body’s ability to break down certain sugars, resulting in severe neurological damage.
While affected children may seem healthy at birth, they gradually lose their abilities over time, significantly reducing their lifespan.
Rachal shared, “I did my own research and noticed that the symptoms matched—frequent ear infections, GI issues, and sleep disturbances—it struck me.”
Suspecting Lydia might have the condition, she presented her findings to the pediatrician, leading to further medical evaluation.
Although an official diagnosis wasn’t given, the pediatrician suggested ordering a testing kit to confirm Lydia’s condition, and a week later, the urine test detected heparan sulfate, a common marker for mucopolysaccharidoses.
Javier explained, “Sanfilippo syndrome is diagnosed through an initial urine test for elevated GAGs [glycosaminoglycans] and subsequent genetic testing to identify enzyme deficiencies and mutations associated with the disorder.”
With no current cure available, Rachal emphasized the importance of clinical trials and early interventions to help children like Lydia before irreversible brain damage sets in.
These trials offer hope for potential treatments to slow down disease progression or alleviate symptoms.
Rachal highlighted the challenges of funding clinical trials, launching a public campaign with a goal of raising $1 million.
She advised people to be cautious online and consult healthcare professionals for any concerns.
In their case, Javier believed that the TikTok videos had been beneficial, providing the family with crucial information, awareness, and some answers.
Rachal’s social media campaign has gained immense traction, with one particularly impactful video viewed over 4 million times, receiving global support with offers to help.
Rachal’s call to action on TikTok is clear: “Share, repost, donate if you can, and most importantly, offer prayers. Donations support research and clinical trials. Lydia needs a clinical trial—it’s her chance at life.”
Another user emphasized the value of TikTok in raising awareness for rare diseases, stating, “I’ve seen numerous kids diagnosed through others’ videos. Praying for a cure, and that sweet Lydia finds a clinical trial.”
Rachal’s relentless advocacy for clinical trials serves as an inspiration for all who learn of her story.
“We know treatments exist; we just need to access them,” she concluded.