Rare Disease Day 2022

 It's that day again, February 28th 2022, rare disease day and as I write this it's just before 7 PM Central Time where the region will light up to raise awareness for rare diseases. It's one of the few days I regard with mixed emotions concerning my life, as many of you know, another is June 13th. Since my post last year on this day some things have changed, most notably in regards to this topic two additional diagnoses were made with the results of whole exome sequencing. One was unexpected I must admit, as in the words of my pulmonary team "Oh come on, your heart was one of your few completely fine systems!" but Holt-Oram Syndrome has at least provided an explanation to my naturally low heart rate and a couple of bone abnormalities. Pulmonary joked all I need are two swords and some monsters and I'd be a real life Witcher given the mutations. The other finding is more of a mystery, and certainly fits in the category of rare disease, a metabolic disorder with only 17 known cases.

 

I have been trying to find words to explain my feelings over today and I think the only words I can think of are it is a mix of not quite happiness that comes along with seeing solidarity and advancements in affected communities, and a sense of grief when thinking about the true toll of living with rare diseases that have no cure and many that have no effective treatments. At the very least I can find hope in the researchers working to find out more information about the many rare diseases and the teams that help them so hopefully one day they can help me. And in the meantime I will to continue to do what I have always done, and find ways to not only survive but also live the best life I can despite my symptoms. I turn 21 on the 27th of March and will be halfway through my second year of university in May, and I hope I will have a long and hopefully not overly eventful (in the negative fashion) life. 

 

Due to my chronic illness I will be unable to work a typical summer job, but for Boston area friends you will be able to find me at the Natick Farmers Markets on the following days: May 14, June 11, July 2, and August 6 as well as Natick Nights which I will have more details on closer to the start of the summer. As a result of my illnesses I run my little shop as my main source of income to help pay medical bills (insurance is a pain and sometimes denies things) and education (tuition is going up next year) so any support is incredibly beneficial and appriciated. You can shop my little corner of art at https://www.etsy.com/shop/Thedisc0panda and thank you do much if you do! 

 

Here is the link to the rare disease day website to read some of the featured stories from this year: https://www.rarediseaseday.org/heroes/

 

Until next time,

Max