I wish others knew that...
What is one thing you wish more people knew about living with a rare disease?
that I’m not in control of bad days or flares!
We are telling our truth.
Perhaps it is an aspect of human nature. My guess is that it might be more in the U.S. than other countries because we tend to be a lazy bunch, me-me-me. Asian countries take care of their family members. Thanks for your reply.
, sadly, I agree - overall there seems to be a lack of empathy in the US. - Warmly, Donna (Team Member)
I wish my family understood how hard it has become to even do things that I want to do. I can't read because I can't remember what I just read. Even TV is difficult to follow. I can't hear it if there is background noise because I already have a swarm of bees (my tinnitus) constantly in my head. I was a full time night shift nurse with 2 highschool kids at home and 1 in college and my alarm went off one evening and I couldn't get out of bed. I was exhausted and in so much pain.
I have KFS or Klippel-Feil Syndrome. It's a neuro-skelatal birth defect. It has many facets but is usually diagnosed by fusion of 2 or more cervical fusions. It can include cervical ribs, facial asymmetry, cleft lip/palate, tethered cord, small or missing one kidney, difficulty with reproductive organs, scoliosis, smaller than normal mouth and ear canals, hearing loss and/or tinnitus and it is often associated with other birth defects. That is not everything and not everyone has all of these but I do. I also have Chiari Malformation, an abnormal opening at the base of the skull, which allows the lower brain tonsils to hang below the skull, which causes constant headaches. I began Botox injections that have given a lot of relief. I actually went for 2 1/2 hours without a headache! But my insurance company is not paying for it stating that they are charging too much, so I don't know if I can continue. For me, the worst part is the hopelessness. There is no treatment and there may never be a cure. My kids seem to be okay, but I am terrified that my grandkids could have it. It is genetic and my kids have been told that they need to get genetic testing before they even think of having kids. 
Oh, geez...thank you for these additional shares. The insurance not covering the Botox injections is so sad...Is your provider trying to work with the insurer?
About your kids needing testing before having kiddos, I imagine that any potential mate would also need testing? Or, does it take only one pathogenic mutation for KFS? I have CF and although I don't have kids, my younger sis decided to get tested and found that she carries my more rare mutation, so she had her only child get tested, and she also carries it, so now they will have any potential father tested. She just moved in with her boyfriend and I know they want kids, but I have no idea if he realizes about the expected testing...
I know it's not easy to get family tested...I have 5 siblings and only 1 chose to be tested...Gina Miller,
Team Member
RareDisease.net
Mainly, just how debilitating the fatigue can be. This is not just being tired because I do too much. This is getting up in the morning with very little energy and the smallest task is monumental.
Hi
,
I completely understand the 'getting up in the morning and already feeling fatigued'...
It's now rare when I actually feel refreshed. In my case, I think it's the chronic pain I experience that seems to wear on my sense of peace... perhaps, too, inflammation that my body is always dealing with.Sigh... It's truly impossible to explain this sort of fatigue to others who don't experience it, but a bit less sad to know I am not alone in it...
Thank you for sharing,
Gina, Team Member
