Rare Disease Day 2021

 Happy rare disease day, now this is the story of how my life got flipped, turned upside down, now take a moment just sit right there and I’ll tell you all about how I nearly died from respiratory failure. 

Basically, my body hates me and continually attempts to destroy itself for no reason, but where things took a turn was when I was 14, I had always had some medical issues as a result of prematurity/genetics, but 6/13/2014 was the day I regard as the point of no return, I woke up with the sniffles took some allergy meds and went to school, by 2:00 pm that day, I had a low grade fever and had begun to stridor (noisy breathing caused by upper airway obstruction) inhalers did nothing, the NWH ER gave me some meds to break the fever and sent me home, the next night we returned as I was stridoring in my sleep, 1 dr on in adult ER and pedi ER was closed, they took a guy who was not seriously injured before me, and were so bad at IVs that when I was moved to MEEI they were shocked at the bruises. I was admitted to NWH and upon visiting the ENT (and my first of many laryngoscopes) it was revealed my vocal cords were severely paralyzed, I was to be released and immediately sent to MEEI where I met Dr Hartnick my head of team, after an initial clinic visit I was admitted immediately to the ward and had everyone come look at me. Almost 7 years later, while the stridor is currently in remission- it can be aggravated easily by virus’s and get severe enough to the point where a trach comes to the table. I have never regained my senses of taste,smell, or hearing, and in the years since that fateful day my health has been a series of ups and downs, with the introduction of many many rare conditions- hemiplegic migraine, some odd form of dysautonomia, myoclonus-dystonia, the list seems to be ever growing. With the WES testing, we may finally have some answers on the genetics behind my various problems, and until then we remain ever vigilant, if slightly nervous what looms beyond the horizon.