Last I posted it was with regards to my mental health, while an uphill battle I’m on the mend and seeing better days. I’ve wanted to get back to posting regularly and hope I can put my best foot forward today.
I’m going to begin with something that brought a smile to my face when I read it, Rhythm Pharmaceuticals has announced the publication of a children’s book for patients and families living with Bardet-Biedl Syndrome (BBS). As mentioned in previous blog posts, BBS is an obesity related disorder associated with MC4r.
The book, “Understanding Hunger & Bardet-Biedl Syndrome (BBS): Gabe’s Story” has been developed in collaboration with the Bardet-Biedl Syndrome Foundation.
The book is an educational resource to help patients and their families faced with the challenge of constant hunger. “Gabe’s Story” is designed to help children living with BBS make sense of their feelings and help them understand why they are experiencing insatiable hunger, and recognise they’re not alone. Read more here.
I am so happy that a resource like this is available for children. I’m actually quite emotional having read about it. Steps are being taken to help kids early and before it starts affecting their mental health. I’m grateful that a book like this exists because growing up I didn’t have access to this kind of resource; when I was diagnosed with MC4r deficiency the research and studies available to read online were limited. For the most part I was in the dark and I found myself online all the time trying to find out more information. Studies were so rarely conducted that the research I did find always seemed to contradicted what another’s conclusions, leaving me with no clear answers.
Patients in 2021/22 are weirdly fortunate to have so much at their fingertips (while at the same time I wouldn’t wish a weight related disorder on anyone).
On the other hand, as someone who seeks to bring awareness about weight related disorders and educate the masses I feel like this resource should be available to all children and not strictly BBS patients and their families. I understand the concept of having a target audience and I can see what their aim is, so I get it (side note: there are other disorders within the MC4r range where patients suffer hyperphagia [the constant need to eat] so I don’t know why it’s it’s specifically for BBS patients but that’s another thing all together).
BUT, I feel if you’re going to educate children from an early age, open your permitters. Helping patients and their families understand the condition is important, it’s very, very important. If a resource like this had been available to me much sooner maybe I would have been able to accept my condition long before my mental health started to deteriorate.
However, here’s my question: I wasn’t diagnosed until I was 19… if a book like this had existed and MC4r was something I was made aware of since childhood, would that have made it easier to understand and accept my diagnosis later in life?
I can’t answer that, because obviously the resources weren’t available. What’s done is done. I ask this question because weight related disorders are not easy to diagnose. Most doctors dismiss weight as a persons lifestyle choices and not a symptom of a disorder. Thats why they go undiagnosed.
How many patients fall through the net? How many more will fall through the net? And could this book help people who are currently going undiagnosed?
I’m so excited about this book, because I feel like it’s a step forward in helping children understand themselves. I’d love to one day see this book in stores and library’s where any person can have access to it. But for now, I hope the aim to help children and families with BBS is successful.
MC4r and ME 