Support for Esmay living with Sanfilippo syndrome

Esmay’s fight against Sanfilippo Syndrome-Mucopolysaccharidosis IIIA

• Esmay was diagnosed with Sanfilippo Syndrome IllA on 15th May 2025

Esmay has experienced a lengthy medical history in her short life being diagnosed with over active thyroid auto immune disease at age 3 followed by autism, with love, persistence and hope, we have pushed until we received a final diagnosis that explained everything.

Sanfilippo Syndrome is a form of lysosomal storage diseases related to the Mucopolysaccharidosis family.

It is a genetically inherited and degenerative disease.

It is a rare disease that most have never heard of. On average, depending on the type (A, B, C, or D), there are 1 in 70,000 children diagnosed with this terminal illness. It is commonly referred to or compared to a childhood form of Alzheimer's.

She will eventually lose her ability to talk, walk, feed herself, possibly lose her hearing and experience seizures. SF IllA is the most rapidly progressing (severe) form of this disease and there is no cure. It is fatal.

Most children with Sanfilippo Syndrome do not live past their 10th birthday. Our biggest fear aside from losing her at such a young age, is watching her suffer.

To see your innocent child/Grandchild consistently continue to lose skills and abilities they once had is heart breaking. Having no way to intervene or stop the suffering is even worse.

This page was formed to help raise awareness for Esmay and other children like her and raise money to help her have the best life we can give her.

We are all fighting a battle others may never understand. Be kind to each other and be thankful for even the most minimal of positives in your life.

With your help we can get Esmay all the things she will need to support her and make the remaining of her life as comfortable as possible. She will need special car seats , bath/shower chair, padded zip up cot/bed and a reclining disabled special buggy plus many more things

we want to make sure she doesn’t suffer and has everything she needs to be as comfortable as possible.

I have watched my beautiful granddaughter rapidly decline over the last few years which is heartbreaking, Esmay is only 5 years old. I would give anything to hear her talk , laugh or even smile again , to know that I will never hear her speak again is so hard to accept.

Every parent dreams about their child's future and watching it unfold. Sanfilippo Syndrome takes that all away. Sanfilippo Syndrome is a rare, terminal, neurodegenerative disease that causes children to lose all the skills they've

gained, suffer seizures and movement disorders, experience pain and suffering, and then die. All before their parents/grandparents eyes.

if you can help at all we would appreciate it so much.

thank you.