Rare Diagnosis Experiences
How long did it take you to get diagnosed with your rare disease? Did you receive any misdiagnoses?
Between 2019 and 2022 I was diagnosed with 3 rare diseases. Also diagnosed with neuropathy, but itās considered idiopathic progressive neuropathy, because we donāt know what caused it.
Hey Donna! Yes it is,it starts to seem like the appointments are kind of a waste of time. All it has been is refilling medication and come back in 6 months until infinity. Iād say Iām more so managing it as opposed to getting relief, because I havenāt been pain free since early 2019.
, I hear that. I'm glad that it is in a manageable place. I feel you on the appointments. It is wearisome, and you feel like you are paraded along in front of the team, patted on the head and sent away. Sometimes that parade gets wearisome. Sending emotional and spiritual fortifications - Warm ***hugs))), Donna (Team Member)
Oh and my son they are still trying to determine if he has Hypermobile Ehlers-Danlos since heās young and we donāt know if it could be something else so they are treating it like it is. We have so many different health problems so we will see.
, sending love and light in hopes of an answer. - Warmly, Donna (Team Member)
Well for my genetic disorder ARFGEF1-neuro developmental spectrum disorder, we just got it diagnosed and it can apparently contain other diagnosis. I was born with it and am going to be 42 soon. This is a fairly newly found genetic mutation, so I got dance prescribed when I was little and was just told I was stupid and clumsy and sensitive. As I got older I was told maybe autism(which can occur with this), and dyspraxia(also can occur with it), no one knows much on it so they donāt even know which of my current other diagnosisās could be part of this. My son who has also been diagnosed is 7 years old and he has other rare diagnosis that attach to it plus we are hereditary when it was thought likely not a thing. He was diagnosed with apraxia and dyspraxia also, which are considered rare. I pushed for those 2 diagnosis for a couple years before he was diagnosed so we have no clue now if his and my other diagnosis is right or not and if combined or itās own thing, since they donāt know. Oh and they think my daughter also has the weird gene, but are waiting on results. We are also waiting on more results to see for both kids as to whether they have other diagnosis. We are still learning everyday more things so I am not sure of whatās a right diagnosis and whats not.
, I'm so sorry that you're dealing with this. The principal and counselor, district psych and everyone else (except 1 teacher) were so supportive. But it was exhausting, and I should have had my own office at the school for the amount of time I spent there. I cannot even imagine what tit would have been like without that support. I hope you and your children get the help you need. Please keep in touch and let us know how it's going. And we're always here if you need to vent! - Warmly, Donna (Team Member) , no worries, you're fine! We understand that things happen and life gets crazy! How are things going today? - Warmly, Donna (Team Member)
Diagnosed as polymyalgia rheumatica and myositis. Has taken 8 years, and i made the diagnosis by therapeutic trial of mestinon. However, my son diag with chronic progressive opthalmoplegia as teenager, and have requested genetic consult now for me.
Hi
,
Thank you for sharing about both your and your son's diagnoses.
Glad that a trial of a med helped you to get your current diagnosis.
I hope the genetic consult will help you further along your diagnostic journey.
Good luck,
Gina (Team Member)Hi
, eight years is such a long time to go without relief. I'm glad that they finally arrived at the correct diagnosis. I wonder if they find a genetic link to your son's opthalmoplegia it will affect your diagnosis or treatment? Please stay in touch and let us know how you both are doing. - Warmly, Donna (Team Member)
