My perfect baby was diagnosed with childhood Alzheimer's after I spotted a TikTok

SWNS

A mum was heartbroken when her "perfect" tot was diagnosed with childhood Alzheimer's - after she spotted an identical looking girl on TikTok.  Morgan Rachal, 29, was over the moon when she welcomed her second daughter, Lydia, now 20 months old.  The mum-of-two had thought her daughter was completely healthy apart from the odd common ear infection, constipation and sleeping problems.  But when her mum, Cindy Weaver, 55, was scrolling through TikTok she spotted a little girl who had looked identical to Lydia, had the same symptoms and had a rare disorder called Sanfilippo.  Children with Sanfilippo syndrome typically have full lips and heavy eyebrows that meet above the nose, or hirsutism, which is excess hair growth.   The disorder is a rare genetic metabolism disorder know as childhood Alzheimer's  as it causes children to lose all the skills they have gained.  Lydia currently isn't showing any signs of cognitive decline but will if she doesn't receive treatment.

Transcript

01:00My name is Morgan and I am the Hope for Lydia mama.

01:19I want to tell y'all my goal here on this platform and a little bit about San Filippo

01:24Syndrome.

01:25Lydia was diagnosed with a rare genetic disorder called San Filippo Syndrome in April at 18

01:29months old.

01:30It is terminal.

01:31It is genetic.

01:32She got it from me and her dad that carried the faulty genes that we did not know we had.

01:37Me and her dad, faulty genes, created Lydia with San Filippo Syndrome.

01:40It is childhood Alzheimer's.

01:43She will lose her ability to walk, talk, feed herself.

01:46She will suffer from seizures.

01:48She will suffer from pain and she will die before her second decade of life without treatments.

01:53There are no current treatments or a cure that are approved by the FDA.

01:57They are only in clinical trials.

02:00The FDA has recently agreed, not approved, but agreed that a treatment in a clinical

02:04trial is working called gene therapy.

02:06This is massive news for the San Filippo community and families.

02:11So, my daughter, 18 months old, the damage usually starts to occur around 3 or 4 years

02:16old.

02:17She is 20 months old now and we still have time before the brain damage begins.

02:22My goal here is to raise awareness, keep raising awareness, and help fund for the clinical

02:29trials.

02:30These clinical trials are million dollar projects.

02:32Million dollars for one clinical trial to become available for children to get treatments.

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