Thank youMy daughter received her love Quilt today and we couldn’t be more grateful.
In a world that can sometimes feel difficult, it means so much to know complete strangers have given their time, creativity and kindness to make something so special just for her.
Thank you so much to everyone involved, you have given my daughter something she will cherish and a memory our family will never forget
|
BiographyEsmay’s fight against Sanfilippo Syndrome-Mucopolysaccharidosis IIIA
• Esmay was diagnosed with Sanfilippo Syndrome 111A in 2025
Esmay has experienced a lengthy medical history in her short life being diagnosed with overactive 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 disease 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 111 A 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.
I have watched my beautiful granddaughter rapidly decline over the last few years which is heart breaking. 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.
|
