A Louisiana woman credits her “motherly instinct” for diagnosing her little boy with devastating “childhood dementia.”
When Morgan Rachal’s second daughter, Lydia, was born in October 2022, she noticed that the newborn had defined eyebrows that grew thicker over the next few months.
Since people said that Lydia looked “just like her dad,” Mrs. Rachal didn’t think much of that unusual trait.
That was until her mother sent her a TikTok of a girl with the rare disease Sanfilippo syndrome who looked a lot like her daughter.
Mrs Rachal said: “I looked at it and saw Lydia’s face on this little girl.”
At 18 months, Lydia was diagnosed with Sanfilippo syndrome, a rare genetic disorder that causes cognitive impairment in children.
When Lydia was born in October 2022, her mother noticed that the newborn had defined eyebrows that became thicker over the next few months, which the registered nurse attributed to a trait inherited from her husband, Kirk Rachal.
Mrs Rachal said Lydia and her older sister Heidi are ‘best friends’
Acting on instinct, the emergency room nurse pushed doctors to do genetic testing on Lydia in March.
At 18 months, he was diagnosed with the genetic disease, which affects only 5,000 Americans and causes dementia-like symptoms in children, including the inability to talk, walk, eat alone or remember any of the skills they have learned to do. the long of the time. their lives.
It affects approximately one in 70,000 births each year and develops when each parent passes on a defective gene. Most patients begin to deteriorate around age four and do not live beyond adolescence.
A month after the diagnosis, Mrs Rachal posted on Facebook: ‘Thirty days ago was the worst day of my life so far. Although she still had her existence, my heart shattered as if I had lost her.
‘I just lost the life I planned for her. The dance recitals, her childhood, the softball tournaments with her sister, the graduations, the wedding, watching her become a mom.
‘We all have this “how it’s supposed to be” perspective on life. When really, we never know when their health will change, or when God decides to take them home with him.’
In addition to dealing with her own emotions and those of her husband, Kirk Rachal, she added: “One of the hardest days of my life will be when I have to tell my oldest daughter that her little sister is terminally ill.”
She described Lydia and her four-year-old sister Heidi as “best friends.”
The graph above shows the typical progressions of a child with Sanfilippo syndrome type IIIA compared to that of a typical healthy child.
Sanfilippo syndrome is often known as childhood dementia or Alzheimer’s disease because of its neurological and cognitive effects in children.
Although it affects very few children, a community of parents has formed support groups on social media sites like TikTok, hoping that sharing their children’s agony will help raise awareness.
It was this online community that led Ms. Rachal to pressure her doctor, who had never heard of Sanfilippo syndrome, to get genetic testing.
Because she stood up for her daughter, genetic specialists in New Orleans were able to examine Lydia and told the family that the little girl’s condition was caught early and had not yet caused brain damage.
In people with Sanfilippo syndrome, they lack an enzyme that breaks down a waste product produced in the body, causing their brains to become “clogged with toxic levels” of the material, according to the Cure Sanfilippo Foundation.
Signs and symptoms include the distinctive eyebrows that Ms. Rachal noticed, as well as mild delay in speech, hyperactivity, irritability, coarse and excessive hair growth, rough facial features, severe sleeping problems, respiratory infections, ear infections, digestive problems and a wobbly gait.
Mrs Rachal said Lydia had recurrent constipation, as well as multiple ear infections and sleep disturbances, and is still not sleeping fully through the night.
She said: “I’d never thought there was anything wrong with him before – he met all his milestones.” She has had frequent ear infections, constipation problems and sleep disturbances. But those are all common things among babies.
As toxicity levels build up in the brain, it can lead to seizures, movement problems, and chronic pain, but due to its behavioral symptoms, Sanfilippo is often initially misdiagnosed as ADHD or autism.
Mrs. Rachal said People: “It’s so weird that a lot of moms have told me that their child was diagnosed with autism for the first time because that’s how it presents.”
Ms. Rachal chronicles the family’s journey with Lydia and works to raise awareness about the condition on TikTok.
Although it affects fewer than 5,000 Americans, a community of parents has formed support groups on social media sites like TikTok, hoping that sharing their children’s agony will help raise awareness.
There are four subtypes of the condition depending on which enzyme is missing or broken. Worldwide, MPS IIIA is the most common, accounting for more than half of cases.
It is also considered the most serious, causing symptoms and death at younger ages, according to the foundation.
Ms. Rachal told People that doctors determined that Lydia has MPS IIIB, a less common form that progresses more slowly than the others.
There is no cure for the disease, but the Sanfilippo Foundation said research and clinical trials for enzyme replacements are working toward treatments that could potentially slow the progression of the disease and extend a patient’s life.
As of now, doctors seek to treat and control the symptoms that accompany Sanfilippo.
However, this week Ms. Rachal posted an update on Facebook that the FDA had determined that a gene therapy treatment could be effective for Sanfilippo syndrome.
On Wednesday, it was announced that Ultragenyx Pharmaceutical would prepare to file for approval of its Sanfilippo gene therapy by the end of 2024 after working with the FDA to obtain an expedited review of its potential treatment.
In an initial trial, the biotech said it saw stability or improvements in cognitive function in 16 of 17 participants who received the therapy.
Additionally, a 2023 study funded by Orchard Therapeutics at the University of Manchester NHS Foundation Trust found that four out of five patients diagnosed with Sanfilippo continued to gain cognitive skills on par with the development of healthy children after receiving an investigational gene therapy.
It is not known how much they will cost, when and how they will be available, or whether health insurance will cover them.