Connecting with others with a rare medical condition

My 8 year old son has been diagnosed with a rare medical condition. It’s not life threatening, but will have a major negative impact on his life, especially over the next few years and quite possibly for the rest of his life. It is likely that he will have to have a pretty substantial surgery later this year. The hospital (Boston Children’s Hospital) hasn’t been great with communication about anything really, but in particular what his and our lives are going to look like post surgery. 2nd (and 3rd) opinions told us that Children’s was on the right track, so we are going to stick with it, despite the less than spectacular communication. We are tying to connect with people that have been through this before to get some more details, but it’s been hard to locate anyone. There doesn’t appear to be support groups, or a facebook group. Children’s provided the name of a family whose son has a related disorder (and went through the same surgery my son will have). They initially were happy to speak with us, but when it came time for the actual conversation they ghosted us.

We are overwhelmed and not really sure where to turn to for more practical information. Any ideas on where to look would be very appreciated. The condition is Hinman Syndrome, but any information on finding support for rare conditions would also be helpful.

I believe there are groups for people in your situation - which is to say, who are affected by a disease or condition that is so rare that it doesn’t have its own community. I tried Googling “rare disease community” and found this - it’s only a starting place, and I don’t know if it will help. Best of luck.

Not to put the burden on you, you’ve got enough on your plate, but you could start one yourself and see if there are others who, like you, are also looking.

Other thing I could recommend would be to look for groups that offer support for diseases with similar symptoms, even if they aren’t the exact same disease. It may not be able to offer advice regarding treatment issues, but they could help with moral support and coping techniques.

One thing you can try is reaching out to people who research that particular condition. Especially if it is a more obscure disease that Boston Children’s Hospital hasn’t seen much of. Perhaps your doctor or a patient advocate at the hospital can help you get in contact with a researcher. You also might be able to find research by searching Google Scholar. Someone who has published a long term study would be golden. Anything in a published medical journal will list the author and usually an associated institution. Be forthright with your intentions though, they won’t offer medical advice.

ETA: Here’s an example that I found, though it’s over a decade old now:


Thank you for this. Not finding a group for this condition on that website is what prompted my post.

That’s a good idea and probably what I will be doing next. The website that CairoCarol recommended has a link to start a community.

I’m a little confused on your suggestion. I’m not looking for medical advice. For all the complaints I have with Children’s, they do seem to have a handle on the treatment itself. It’s more questions like: how long was your child out of school after surgery, how do their classmates react, is your child able to go to summer camps, etc. I don’t really know how I would approach a researcher with those types of questions.

The same way you approached your doctor: do you know any support groups for this condition, are any of your patients willing to talk to me about life after surgery. The publication I cited indicates that their institution treated 22 patients with the syndrome over 12 years, however I now realize that institution is located in Istanbul. So unless you speak Turkish, the authors of that particular paper probably can’t help you.


Got it. I was not reading your post correctly and thought you meant that the researchers could provide answers to my questions. Thanks for clarifying.

Maybe I wasn’t clear - I didn’t mean that you could try to find a group for your child’s specific disorder by going to that site - what I meant was, I believe there are groups for people to commiserate/share tips BECAUSE there is no community for the disease they are dealing with. To that end, perhaps it would tie in with @Buck_Godot 's suggestion of starting your own group. People in a “there’s no group for us” group might have some useful experience to share.

But, who knows.

ETA: I see that the website I linked to has a section on “starting a group for your rare disease.”

Only some of your issues are going to deal with things specific to Hinman’s, but many of the things will be the same as with other diseases sharing many of the same symptoms (about the bladder or whatever). So look for broader (urology. etc) groups.

perhaps contacting authors of recent research papers will get you in touch with experts, who might be able to help. I’m sure they just can’t give you names of patients, but they may know organizations, and maybe you can give them your name to provide to other patients…or facilitate a meeting.

A good friend of mine who I have known since childhood is one of the top pediatric urology surgeons in the country. I’ll reach out to him. I’m sure you’ve done extensive research already but he may know something helpful.

He just replied

It’s not quite the same but if they are looking for support regarding catheterization and having a neurogenic bladder the best place to start is the Spina Bifida Association. They have very active parent support groups.

Does this help?

Yes! Thank you! That was exactly what I was looking for. (And your friend is WAY more responsive than anyone we’ve been dealing with).

My first thought when I saw this was that @Bearflag70 might have some suggestions, since IIRC he and his family organized a foundation for their little girl who has a rare condition.

I am so glad I could be of help. We’ve been friends since First Grade which is over 50 years. He’s an amazing person.

I just love the Dope!

Medical professionals who work with this condition will surely know many people with it, but I don’t know how much of a help that would be: They won’t be able to share contact information of such people, due to privacy and confidentiality issues.

I am baffled as to why you would post such an awful threadshit in what was a lovely thread. OP wasn’t asking for private medical information. They were looking for a support group. I happened to know an expert who was able to quickly solve the problem. OP was delighted and got the exact answer they wanted. Everyone was happy. WTF?

Children’s hospital put us in touch with a family that has a child with a related condition. The social worker at Children’s reached out to the family, and received permission to exchange contact information. They initially seemed very happy to speak with us, but then ghosted us for a while. We subsequently learned that they had some family problems come up and were delayed in speaking with us. They have since gotten back in touch with us. All of this to say, I am certainly not looking for anyone to violate any privacy issues, but to find people willing to talk with us regarding their own experiences. Hajario’s recommendation was spot on, and put me on the right track to find people with a related condition.

Again, being able to provide you with the answer made me so happy and I wish you nothing but the best outcome.

As it happens, I have a very minor case of a relatively rare medical condition. I asked my neurologist a similar question and he put me in touch with a support group and one of his patients who gave permission to be contacted. I also gave permission to be contacted and was a couple of times. This was before the ubiquitous of the web and my particular condition now has a large national foundation that’s easy to find.