Little Lydia (3) occasionally suffered from ear infections, constipation and sleep problems. But her mom, Morgan Rachal, saw these difficulties as a normal part of child development. Only when parents came across a child with the same symptoms on TikTok did they immediately take notice. The girl was finally diagnosed with a disease called “children’s dementia”, he informs
“As if the life had drained out of me,” the devastated mother describes the day they received the test results. “I immediately felt like my baby was going to die,” adds. When Lydia was born in 2022, doctors told her parents she was a perfect baby. Neither of them had any worries.
When she was about one and a half years old, she began to have more frequent ear infections, constipation, and worse sleep. Morgan considered this to be normal, so she wasn’t worried. Everything changed when they accidentally came across a child on TikTok who looked like their daughter and had the same symptoms. The child was suffering Sanfilippo syndrome, a very rare genetic disease.
Children with this syndrome have typical features such as full lips, prominent eyebrows that can grow together, and increased hair growth. The worried mother showed the video to the pediatrician, who agreed that the children looked alike and sent Lydia for tests. A week later, the results came, which they confirmed Sanfilippo syndrome type Balso called childhood Alzheimer’s diseasebecause it gradually destroys the nervous system and children lose all acquired abilities.
Doctors told the parents that there is no cure for the disease. They can go home and make memories together. “They call it infantile dementia. He won’t be able to walk or talk. He won’t live to be thirty. If he doesn’t get treatment, he’ll lose the joy he has now.” Morgan worries.
But she didn’t give up and, together with other families, they found a treatment alternative that is awaiting FDA approval. enzyme replacement therapywhich supplements the body’s missing enzyme. However, it is not yet a cure, only an experimental treatment.
They recently learned that Lydia could receive the experimental treatment early, through the program „expanded access“, but only if a huge amount of money can be raised. The families have started a GoFundMe fundraiser and are trying to raise $6 million to treat the 15 children. They have raised 1.6 million so far and hope to have the treatment approved by the FDA by 2027. “We need 3.8 million by December 2025 and the rest by 2026,” she explained.
So far, the little girl is a completely typical little child. He has no brain damage or regression. “She needs to get treatment before her brain gets damaged. This is our last chance to save our daughter.” added.
What is Sanfilippo syndrome?
Sanfilippo syndrome (MPS III) is a rare genetic disease. Because of it, children gradually lose their abilities, stop talking and walking. Seizures, movement problems, pain appear. Symptoms usually appear between the ages of 1 and 6. The disease is fatal. Most children do not live to adulthood. There is no cure yet, but clinical trials of enzyme and gene therapy are underway.
