Some Dos and Don’ts of communicating with patients with rare diseases
DO recognize that the patient is an expert in his or her disease. My daughter is only 11 will be 12 in a few weeks and she can tell you all kinds of stuff about her condition from what it is to how it personaly effects here. Moreover, I can speak the medical mumbo jumbo know the risk and the options before the doctor even looks at me with suggestions for treatments of such things like Bella mild cp that she also has on top of the 22q11.2 deletion syndrome. I can tell you compare and contrast the differences between her and I when it comes to all aspects of the 180 different symptoms and sort out what has worked and what hasn't worked for myself as a parent who also has 22q I am now an adult with 22q Digeorge and can show you how to cope.
Many doctors get offended when I push back against things that I know will not help (or in some cases, worsen) my daugters health for example knowing full well it will be a waste of time to do a sleep study again for the 3 or 4 time in a row to only get the same test results as last time. I always tell them, "I understand you are a doctor and I am not, but I am my daughter's and many other paitents road map being one of the few who have 22q and a child who also has 22q and siblings and a father with 22q cause all of us have been tested. The doctor and can help you help her." Please do not be put off by rare disease patients (and their caregivers) who know an immense number of tiny details and things that may go against the usual standard of care. Typically children with 22q have skitofrenia is not a forgegone conclusion and no I am not in denial I have been tested so has my child. We are not trying to offend or be nasty, we just want to be heard and listened to as experts in our specific "field" of rareness. We live it breath it, walk in it daily. WE don't get to clock out at 5 and go home and turn off our 22q. Just because you are a doctor does not mean you are an expert on my kid with 22q and just becuase you are a parent to a child with 22q does not mean you are an expert on all of us adults who are older then your child with 22q.
Do not think because we are adults with 22q we are less then and don't deserve the creit we are do when we share our ideas and put forth effort then wonder why you no longer hear from us in those so called support groups
Do not think we think we are better then you often we need the same support that parents do as well
Do not be shocked we can wipe our own butts is a term I have to use when I share on socail medial about my being a step mom to teens and young adults 3 of them and then our daughter. I also get the jaw drop that I been married for 14 years with my husband. I was born in toronto ontario with out knowing I had 22q many do not get tested becuase of stigma do not give reason to keep the stigma of a positive genetic result that it is someone elses fault sometimes it's random some times it's the 50 50 chance it all matters when it comes to the genetics 101 genes change divide and multiply which is why 22q is not the exact same for everyone do not tell us that we are missing our thymus or such and put fear into us when we show you our test rsults are normal and we do hav ea throyid or which ever symptom you are sure all of us with 22q have. All of us in our family have hypocaluma but I'm not barking up everyone's tree saying all of you or your children with 22q have hypocalciuma do not read test and twist them for 22q awareness or any other kids of awareness. That leads to miss infomation. skitofrenaia had a research done where 50%0 of those who had skitofrena also had 22q not shocking in the least. as 22q is as common as down syndrome but becuase we don't look like a down syndrome person there no need to test unless symptoms show up in our family it was turning blus as a baby and seizures even then when I was small the doctors did not do genetic tests like that I was born in the 80s. A lot of research has advance but there are so many organizations trying to share cute photos of kids with illness to help get funding for their awareness that us adults get lost in the mix of things in terms of research and those of us who are willing and able ot help get shunned out of the community and black listed because we know more then the experts and the experts don't care to admit they are wrong. do be compassionate and learn from each other Knowledge is hope awareness is key
Thank you for reading.