BATTEN DISEASE

Batten Disease is a genetic disease caused by an autosomal recessive mutation. Children with Batten Disease have no ability to dispose of wastes, and the build up of proteins and lipids damage these cells resulting in progressive neurological impairment. Batten Disease may present itself in different forms due to varying genetic mutations, however, some symptoms include visual impairment and seizures. There is currently only one approved treatment for CLN2 which is just one form of Batten Disease. We are focused on CLN1 for which there is no treatment.

https://bdsra.org/

https://taylorstale.org/
 

HNPP

HNPP is a nerve disorder inherited in an autosomal dominant pattern that affects the peripheral nerves. HNPP affects the nerves connecting the brain and the spinal cord to the muscles and the sensory cells that detect temperature, touch and pain. Pressure on these nerves can cause tingling sensations, numbness, pain, weakness, muscle atrophy, and even paralyzation of the affected area. Currently there is no cure for HNPP.

https://www.hnf-cure.org/

https://www.cmtausa.org/

 

MULTIPLE SULFATASE DEFICIENCY

Multiple Sulfatase Deficiency is a lysosomal storage disease inherited in an autosomal recessive fashion which is caused by a deficiency in multiple sulfatase enzymes. These enzymes are responsible for breaking down and recycling complex sugars from lipids. Patients with Multiple Sulfatase Deficiency may suffer from coarse facial features, deafness and an enlarged liver and spleen. For children who suffer from this disease they often develop at a slower rate, and for those suffering from neurological damage, the disease is often fatal. Currently there is no treatment or cure for Multiple Sulfatase Deficiency.

http://curemsd.org/

http://www.savingdylan.com/

 

PITT HOPKINS SYNDROME

Pitt–Hopkins Syndrome is a genetic disorder that is considered an Autism Spectrum Disorder. Some children will Pitt Hopkins will be diagnosed with Autism or have autistic like characteristics as well as some sensory integration dysfunction.  Pitt Hopkins is typically associated with cognitive impairments, developmental delay, anxiety and ADHD. Currently, there are 700 cases of Pitt Hopkins cases known around the world with no cure for the disease. Although, augmentative communication and more progressive therapies have been shown to help with cognitive functioning. Currently there is no treatment or cure for Pitt Hopkins Syndrome.

https://pitthopkins.org/