By B, Muckle-Wells syndrome, United States, October 10, 2019
By the summer of 2016, we've been to just about every doctor possible and through countless procedures in the hopes of finding answers with what's going on with with my daughter. It was also the summer that her rheumatologist finally found the closest we've came to an answer- at the age of 5.5 she went under anesthesia for a spinal tap at which had also did genetic testing. It was then late October 2016 when we got the call that results were finally back and the very thing that her rheumatologist said was now a confirmed positive diagnose of Muckle-Wells Syndrome (MWS).
MWS is a very rare genetic mutation (effecting male/female both the same; in order to have it a parent does- if positive, each pregnancy has 50/50 chance). It's a life long condition that will always require treatment as there currently is no cure, but thankfully, with proper medication and healthy lifestyle choices, it can be controlled and lived with. Braelyn and I both receive an injection every 8wks. The great news is, my constant questioning and pushing and repeating finally provided receiving an answer to the root of all the years of debilitating pain, colds, the fainting, the fevers- but more importantly in the fight for my daughter, we found out early enough with her to help in the prevention of any further damage and hopefully reverse any early damage.
Though the answer had been found- getting treatment proved to be yet another bump.... After what felt like forever of back & forth w/health insurance & prescription approval/coverage for Braelyn's needed treatment; in late November 2016, she received her first injection of her treatment plan. ...She didn't even cry! I was so glad she did so well, but won't say it didn’t break my heart at same time- that her experiences in only 6yrs from all the hundreds of times had blood taken and/or shots, she can take shots better than most adults- including me!..I can't even look :-(
She's doing extremely well so far and not only has her blood work finally come back at normal levels but more amazingly that just two weeks after receiving first shot she had follow up with her audiologists to have testing redone (which three previous ones done all had the very same results of showing hearing loss-with only change being that the level of loss was getting worse) and to even the doctors amazement, she's hearing completely perfect!
Its been tough and very emotional; especially from my personal dealings with medical issues and everything my whole life; being pushed off from one doctor to another yet never actually being given any answers; ... finding out we’re positive; that it's not only what my daughter has but myself as well; has been a lot. It's beyond relieving to finally have an answer but it’s scary knowing it's a lifelong issue and it kills me to know I'm the reason why my baby has it. Don’t get me wrong, I'm so very glad and thankful we found out with Braelyn while young so she doesn't go through what I had while growing up and still do because of this condition.
Since Braelyn’s positive testing, we have found out that we have 4 family members which tested positive for Muckle-Wells; including myself, my middle sister, and both of her children (two of my nephews). We are in the process of having my mother tested for confirmation of inheritance (my father passed away 11/82, though good possibility it may had been from him). As of October 2019, my 3.5yr old twins have yet to be tested- this was mutual agreement between all parties(us(the patents) & several doctors), that due to their age and the suggested medication start age, it was best to wait till they are 5/6, unless signs(symptoms) start saying otherwise.
It’s a constant worry of us this symptom from the condition; does that then mean the injections are not working- its so hard to not have that be my first thought when hearing “mommy my leg hurts”, “mommy are these hives”- however we have both showed major improvements, not only physically but also with our blood levels and counts. It’s a fight that we will forever be at battle with and we refuse to let it win.