Скачать или смотреть This is how we do it: Creating Alex’s nighttime routine

Life with Sanfilippo Syndrome presents unique challenges to every aspect of life. Families of children with Sanfilippo Syndrome are generously sharing how they tackle an aspect of their life to ensure their child has the best care and quality of life.

Julie, mom of 21-year-old Alex who has Sanfilippo Syndrome Type B, shares their nighttime routine, some of the challenges that they face, and things they do to promote a better night of sleep for him.

Sleep alterations are an almost constant feature of Sanfilippo syndrome, affecting 87–92% of patients. Features include difficulties with settling, frequent nocturnal waking and wandering, and greater daytime sleep compared with healthy individuals. The unrelenting nature of sleep disturbances places a heavy burden on both the patient and their family, and can cause great distress. (Source: Sanfilippo syndrome: consensus guidelines for clinical care; Orphanet Journal of Rare Diseases, 2022)


0:00 Introduction to the Koch family
0:21 Alex eating dinner
1:20 Activities after dinner
2:14 Showering
3:04 Preparing and administering nighttime medicines
4:04 Brushing teeth
5:16 Getting Alex into bed
5:27 Things that help


Sanfilippo Syndrome is a terminal, degenerative disease that causes children to lose all the skills they’ve gained, suffer seizures and movement disorders, experience pain and suffering, dementia, and then die usually in their teen years. It is caused by a single gene defect which leads to lack of a necessary enzyme in the body. This lack of enzyme results in the build-up of toxic storage in every cell and is especially harmful to the brain. This build-up causes a cascade of detrimental effects and ultimately death. Sanfilippo Syndrome is often referred to as being like Alzheimer’s, but in children. Currently there is no FDA-approved treatment or cure for Sanfilippo Syndrome.

Learn more about Sanfilippo Syndrome: https://curesanfilippofoundation.org/...

Access “Sanfilippo syndrome: consensus guidelines for clinical care”: https://ojrd.biomedcentral.com/articl...

Learn more about Cure Sanfilippo Foundation: https://curesanfilippofoundation.org/...

Help these children and families by donating: [LINK] https://curesanfilippofoundation.org/...


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