CureSHANK is an organization founded by parents of children with Phelan-McDermid Syndrome. Their belief, as is mine, that a treatment is within reach for these individuals.
I BELIEVE this in my soul.
I believe knowledge is power. I was interviewed by someone at Jaguar gene therapy. This is a company that is working on gene replacement therapy for shank3. They were interviewing parents of individuals with PMS. The interviewer told me that the ground was shifting beneath our feet when it came to treatments. This lit a fire within my soul.
I will say that I am a very new parent to PMS. Luke is only 3.5. Genetic testing is just becoming more available. Many parents have gone years without a diagnosis. Luke's case could be considered mild. That is no less devastating to me. However, seeing other families who have children that suffer from seizures, from kidney and heart issues, is heart breaking. In the PMS world, so far, we would be considered "lucky". As individuals with PMS grow, neuropsychiatric symptoms can start to develop mania, depression, hyperactivity. A symptom of PMS that you once thought your child did not have, can appear.
Regression happens in around 25% of PMS individuals. Skills such as speech, fine motor, gross motor and social skills can disappear and not return. I think I have found fear to be the most crippling part of this syndrome so far. Fear for the future, for the unknown, how will Luke be in 3,5,10,20 years. I hope new treatments can ease my fear and anxiety along with 3,000 other parents.
CureSHANK is hosting a webinar on March 30th where they will discuss new treatments that are on the horizon. While I know that resources to help manage this syndrome are 💯% necessary, my hope lies in the treatments. I am very much looking forward to this webinar. If you are even a little curious about learning more about this syndrome and who CureSHANK is collaborating with to help develop treaments, register today and join us on March 30th! Use the link below to register,
Knowledge. Is. Power. 💚🧬💪🏻
From cureSHANK website
"ABOUT CureSHANK
CureSHANK has a singular purpose: To accelerate the development of treatments for Phelan-McDermid syndrome and SHANK-related disorders. Our approach is to identify and fund projects that overcome critical barriers to successful drug development and to coordinate scientific efforts to improve efficiency and speed in the field. "
Lots of Love,
Courtney
Comments