Baby diagnosed with rare condition after mum spotted giveaway symptom on her face
When Morgan Rachal's beautiful baby girl Lydia was born last year, neither she - nor her friends and family - could help notice how much her daughter resembled her husband.
From her bright eyes and cheeky smile, down to her notably prominent eyebrows, the tot looked just like her father.
Throughout the first few months of Lydia's life, the Rachal family - who also have a four-year-old daughter named Heidi - experienced nothing out of the ordinary chaos of parenthood.
Other than common newborn ailments, like gastrointestinal issues and trouble sleeping, Lydia seemed like the happy and healthy baby that Morgan and her husband had hoped for.
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It wasn't until stumbling across a troubling TikTok video, however, that the mother-of-two realised there was something very wrong with her child.
Unbeknownst to anyone, Lydia was suffering with a rare health condition which would likely affect her for the rest of her life.
The only tell-tale sign? Her deeply furrowed brows.
While scrolling through the video-sharing app, Morgan came across a clip of another child with identical features to that of her little girl, particularly her eyebrows, with the child's mother explaining that they suffered with Sanfilippo syndrome.
This serious condition affects both the brain and the nervous system, and in some of the most tragic cases, can lead to childhood dementia.
"I looked at it and I just saw Lydia's face in this child," Morgan told PEOPLE magazine this week.
"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."
Having seen the concerning video, Morgan thought it best to take baby Lydia to her paediatrician to be checked over, as well as tested for Sanfilippo syndrome.
"He said he had never seen anyone with it, and had never even been asked about it," she explained.
After doing research of his own - being unfamiliar with the condition - the Rachal family's GP referred them to have blood and urine tests at another nearby facility.
Within a matter of days, the family were dealt the devastating news - Lydia had Type B of the dreaded condition, which means she is missing an enzyme which makes it harder for her body to break down certain sugars.
The Rachals have since been referred to a genetics specialist in New Orleans, who thankfully informed them that Lydia's disorder had been caught early enough that it hadn't yet affected her brain.
"It usually doesn't start affecting them until age 3 or 4 — that's when children with Sanfilippo start to regress," Morgan explained.
While there is no cure and limited options for treatment, the family remain hopeful, with clinical trials for enzyme replacement and gene therapy currently on offer.
"Those treatments could ultimately slow down the regression and prolong her life," Morgan went on.
For the meantime, she hopes to use her family's turbulent experience as a means of raising awareness of the rare condition.
"It's so rare that a lot of mums have told me their child was first diagnosed with autism because that's how it presents," she explained.
"I hope that by sharing our story, we can bring awareness and ultimately that will lead to more research of the disorder."
Morgan continued: "I'm glad my mum didn't wait to send me that video.
"If someone reaches out to you with concerns about your child, it's because they love you ...Though it is a scary journey, I am glad my mom sent me that TikTok.
"I was able to advocate for my daughter and get the early diagnosis."
What are the symptoms of Sanfilippo syndrome?
- Behavioral problems, including hyperactivity
- Coarse facial features with heavy eyebrows that meet in the middle of the face above the nose
- Chronic diarrhea
- Enlarged liver and spleen
- Sleep difficulties
- Stiff joints that may not extend fully
- Vision problems and hearing loss
- Walking problems
Rhianna Benson