An advocacy group is using a card game to educate doctors about ultra-rare diseases.
And it just might work.
The game, called Mission Hide & Help, is based around special sleeves that can be added to a card from the popular Nintendo franchise Pokemon. The card is to be hidden by a child in the doctor’s office, and is intended to be found by the doctor.
The card reads:
"Nobody can find ultra-rare things like you do. Now I need your help finding ultra-rare diseases in your office. The earlier you find them, the higher the chances to find a cure."
Sanfilippo disease can be 1 of 4 hereditary diseases – Sanfilippo type A, B, C or D – each of which results in the abnormal accumulation of glycosaminoglycans (GAGs/sugars) in body tissues. It is a progressive and largely neurodegenerative disease that currently has no treatment or cure.
Diagnostic delays of this extremely rare condition are common, and early symptoms (cognitive delays, hyperactivity, obsessive-compulsive behaviour) can mimic other conditions.
In a news release, the founder of Jonah’s Just Begin, Jill Wood said: "Most doctors see cognitive delay and assume autism, the catch-all for 'I don't know what's going on with this child.’ Many parents accept their doctor's diagnosis. Parents and practitioners start to second guess the autism diagnosis when the child presents with symptoms uncharacteristic to autism such as cognitive regression, sleeplessness, aggressive behavior and loss of motor skills. The diagnostic odyssey can take years, if not decades, to come up with MPS III."
Patricia Dickson, Chief, Division of Medical Genetics, Harbor UCLA Pediatrics added: "There's this idea in medicine, that sometimes, diagnosis doesn't matter. That it only matters if we can do something about it today. But especially for rare conditions, the more we diagnose, the more we learn, and the more we learn; the better we will be able to someday treat and prevent these terrible disorders in the first place."
Mission Hide and Help creator Steve Lundberg said: "I understand JJB's dilemma, this posed a major challenge to my creative partner, Eduardo De La Herran and I. We wanted to get our message directly into the offices of pediatricians. To do this, we needed the help of kids. With a shoe string budget, getting their help via social media and a grassroots effort was the best solution. Now we need everyone's help — and ultra-rare cards — to make Mission Hide and Help a success."
The Mission Hide & Help game not only educates children about Sanfilippo and other rare diseases, it can also be a fun way for them to remind doctors that there are thousands of rare diseases and they likely see many of them on a daily basis; they just may not know it.