Rare Diagnosis Experiences
How long did it take you to get diagnosed with your rare disease? Did you receive any misdiagnoses?
Oh and my son they are still trying to determine if he has Hypermobile Ehlers-Danlos since he’s young and we don’t 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 don’t even know which of my current other diagnosis’s 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 it’s own thing, since they don’t 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 what’s a right diagnosis and whats not.
, interesting! Both of my boys are neurodiverse, so I understand! It took forever to get them diagnosed. I don't think doctors (at least theirs) understand a lot about neurodiversity. My oldest and I both have dyspraxia. He also has dyscalculia and dysgraphia, but an eidetic memory. My youngest is grace incarnate, has no problems with math, hates reading, and also has an eidetic memory. I think there is so much more to heredity that we don't understand.
I hope you get some answers soon. - 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)
I was miss diagnosed in 2019 with stage 4 cancer of the liver, lungs, kidney, spleen, cervical area and lymph nodes. Turns out my husband was the one that diagnosed me with the correct illness of sarcoidosis. It took 19 biopsies before the doctors would listen to him. , so glad to hear that you are optimistic and on the mend! - Warmly, Donna (Team Member) , oh my! I'm so glad you finally got the right diagnosis - bravo to your husband for his diligent research! Are you receiving appropriate treatment now? - Warmly, Donna (Team Member?
