The beginning of every school year is a mix of trepidation and excitement, but for kids with rare disease, cystinosis, there are extra hurdles involved. Horizon Therapeutics is helping prepare these kids with the “Gear Up for the School Year” week.
The event is a mix of education and fun activities and is offered online through Cystinosis United, Horizon’s online patient platform. Similar to Horizon’s other projects for the cystinosis community, including June’s self-care week, sign-ups also include a pack of items sent directly to the user to correspond to the online events.
There are sessions on how to talk to classmates about the disease, as well as practical expert advice on filling out Individualized Education Plans (IEPs) and 504 plans which provide special education, accommodations and/or services to students who have a disability that affects their academic instruction.
“There are a lot of questions around school that others in the community can help answer because while you can get information on a 504 IEP plan, or you can read about how to set up your child for school, only somebody who's really gone through living with cystinosis, and putting their child into the school system really knows the challenges,” Amanda Phraner, Horizon’s senior director of product communications, said in an interview.
“What are the issues? What do you need to advocate for as a parent, there may be something that is available, but if you're not on top of it, it gets a lot harder. So you're really trying to set up those connections and shared learning.”
Some of the issues that kids with cystinosis may face in the classroom is the need for a water bottle so they can drink often, which also may result in the need for more bathroom breaks. There’s of course the need to see the nurse for medication which must be taken at specific times. Some kids may even have to wear sunglasses in class if the room is too bright.
The rare, genetic condition is caused by a buildup in the body of an amino acid called cystine which causes crystals to form. These crystals can damages cells and organs and cause problems such as kidney failure, blindness, or death. Only about 500 to 600 people in the U.S have been diagnosed with cystinosis.
Horizon’s cystine-depleting agent Procysbi, is used for the treatment of nephropathic cystinosis for ages one year and older. The original approval in 2013 was for ages six and up, but in 2020 was lowered to one and over.