I thought my baby girl got her bushy eyebrows from her dad... they turned out to be an early sign of a heartbreaking disease
A Louisiana woman credits her 'mom gut' for diagnosing her toddler with devastating 'childhood dementia.'
When Morgan Rachal's second daughter Lydia was born in October 2022, she noticed the newborn had defined eyebrows that grew thicker over the next several months.
As people said Lydia looked 'just like her daddy,' Mrs Rachal didn't give the unusual trait much thought.
That is until her mom sent her a TikTok of a little girl with the rare disease Sanfilippo syndrome who looked extremely similar to her daughter.
Mrs Rachal said: 'I looked at it and I just saw Lydia's face in this child.'
At 18 months old, Lydia was diagnosed with Sanfilippo syndrome, a rare genetic disorder that causes cognitive decline in children
When Lydia was born in October 2022, her mom noticed the newborn had defined eyebrows that grew thicker over the next several months, which the registered nurse attributed to an inherited trait from her husband, Kirk Rachal
Mrs Rachal said Lydia and her older sister Heidi are 'best friends'
Acting on her instinct, the emergency room nurse pushed doctors to genetically test Lydia in March.
At 18 months old, she was diagnosed with the genetic disease, which affects just 5,000 Americans and causes dementia-like symptoms in children, including the inability to speak, walk, eat on their own or remember any of the skills they've learned throughout their life.
It impacts about one in 70,000 births every year and develops when each parent passes on a faulty gene. Most sufferers begin to deteriorate around four years old and don't live past their early teen years.
One month after the diagnosis, Mrs Rachal posted on Facebook: 'Thirty days ago was the worst day of my life so far. Though I still had her existence, my heart shattered as if I had lost her.
'I only lost the life I planned for her. The dance recitals, her childhood, softball tournaments with her sister, proms, wedding, watching her become a mom.
'We all have this “what it’s supposed to look like” outlook in life. When really, we never know when their health will change, or when God decides to take them home with him.'
Aside from 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 has a terminal illness.'
She described Lydia and her four-year-old sister Heidi as 'best friends.'
The above chart shows a typical progressions of a child with Sanfilippo syndrome type IIIA compared to that of a typical healthy child
Sanfilippo syndrome is often referred to as childhood dementia or Alzheimer's disease because of its neurological and cognitive effects on kids.
Though it affects so few children, a community of parents have 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 Mrs Rachal to push her doctor, who had never heard of Sanfilippo syndrome, for genetic testing.
Because she advocated for her daughter, genetic specialists in New Orleans were able to examine Lydia and told the family the toddler's condition was caught early and had not caused brain damage yet.
In people with Sanfilippo syndrome, they lack an enzyme that breaks down a waste product produced in the body, which leads to their brains becoming 'clogged with toxic levels' of the material, according to the Cure Sanfilippo Foundation.
Signs and symptoms include the distinctive eyebrows Mrs Rachal noticed, as well as a mild speech delay, hyperactivity, irritability, coarse and excess hair growth, coarse facial features, severe sleeping problems, respiratory infections, ear infections, digestive issues and a wobbly walk.
Mrs Rachal said Lydia had recurrent constipation, as well as multiple ear infections and sleep disturbances, and she still does not sleep fully through the night.
She said: 'I had never thought anything was wrong with her before — she met all her milestones. She has had frequent ear infections, constipation issues and she has sleep disturbances. But those are all common things with babies.'
As the toxicity levels build in the brain, it can lead to seizures, movement issues and chronic pain, but because of its behavioral symptoms, Sanfilippo is often initially misdiagnosed as ADHD or autism.
Mrs Rachal told People: 'It's so rare that a lot of moms have told me their child was first diagnosed with autism because that's how it presents.'
Mrs Rachal chronicles the family's journey with Lydia and works to raise awareness of the condition on TikTok
Though it affects fewer than 5,000 Americans, a community of parents have 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. Across the globe, MPS IIIA is the most common and makes up more than half of the cases.
It is also considered the most severe, causing symptoms and death at earlier ages, according to the foundation.
Mrs Rachal told People doctors determined Lydia has MPS IIIB, a less common form that progresses slower 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 manage symptoms that accompany Sanfilippo.
However, this week Mrs Rachal posted a Facebook update that the FDA determined a treatment in gene therapy could be effective for Sanfilippo syndrome.
On Wednesday, it was announced Ultragenyx Pharmaceutical would prepare to file for approval for its Sanfilippo gene therapy by the end of 2024 after working with the FDA to gain accelerated review on its potential treatment.
In an early trial, the biotech said it saw stability or gains in cognitive function in 16 of the 17 participants receiving the therapy.
Additionally, a 2023 study funded by Orchard Therapeutics from Manchester University NHS Foundation Trust found four of five patients diagnosed with Sanfilippo continued to gain cognitive skills on par with development in healthy children after being given an investigational gene therapy.
It is not known for either therapy how much they will cost, when and how they will be made available or if medical insurance will cover them.
