I read Wired magazine and every issue has some sort of health-related article, and almost every time the article features desperate parents connecting with medical experts via research papers instead of via their own doctors. Usually to wonderful results!
In fact, my friend was involved in a similar story many years ago. A woman in a village in the Philippines had a son with a urological condition and couldn’t find help anywhere. This was in the late 90s. She was tenacious and was able to get the first internet connection in the area and contacted media in the US and they got to my friend. The story went viral because of the internet angle and Good Morning America paid to send mom and child to Los Angeles. The kid got the surgery free of charge. My friend and the mom were interviewed on GMA.
This is incorrect. We need the explicit permission of all involved and with that can facilitate connections. Often families with experience are grateful for the opportunity to help others. (Don’t have any Hinman Syndrome families myself.)
My apologies. I was responding to @Max_S 's suggestion that a researcher might be able to help, and was pointing out why that might not work. I skimmed the rest of the thread, and missed the part where it did work.
I believe your son is in very good hands with Boston Children’s Hospital.
Boston Children’s Hospital consistently ranks among the top pediatric hospitals in the United States. For 2024, it was ranked second in the nation by U.S. News & World Report, maintaining its position in the top two for 13 consecutive years. This ranking reflects the hospital’s excellence in various specialties, including cancer, nephrology, neurology and neurosurgery, orthopedics, and urology. The hospital is renowned for its clinical outcomes, quality of resources, and the expertise of its pediatric specialists.
My youngest daughter, now 21, was born with a rare, life-threatening congenital disorder called moyamoya. She had two strokes by the age of 15 months, the first occurring in utero. I credit the late Dr. R. Michael Scott at BCH with saving my daughter’s life. He performed two pial synangiosis surgeries (a procedure that Dr. Scott developed) on her when she was 2 years old. Her condition improved almost immediately—she was completely paralyzed on the left side of her body and in a near-stupor prior to the surgery. While she still deals with frequent migraine headaches and some lingering paralysis, she is alive and well. I just wish she would do her chores more often!
Dr. Scott was very friendly and informative both before and long after my daughter’s surgery. I’m confident your son’s BCH surgeon will be, too.
I have a couple of extremely rare conditions (eyes and heart) for which no support groups exist.
Please try to tamp down your envy 
@mjmartin : I wish you, your son, and your family all the best of luck on this journey.
@hajario : Nice. Seriously. Nice.
For the knowledge base … being a rare one is tough. Doctors have it drilled into them that “when you hear hooves, think horses, not zebras.”
Meaning: don’t go looking past the most common diagnoses that fit and trying to make some rare, exotic thing work.
Which makes very obvious sense.
But which also leaves us zebras in the lurch. We have to find the physician equivalent OF zebras – those whose interest and specialty lies in the realm of the rare.
I diagnosed both of my rare conditions after being dismissed or minimized by some of the best in the business.
But in each case, it took years.
What I took to doing was learning everything I could about the pattern of symptoms, understanding which tests should get how much weight (and which tests were likely just about meaningless), and then – using PubMed – identifying the leading researchers into my thing … in the world (most of these people speak English, regardless of where they are).
[PubMed/published papers often contain their contact information]
Then I composed the best, most concise, most specific e-mails to them that I could, trying to be clear about my ‘ask’ (ie, what I was asking them to do for me).
I stay with the facts. To the extent it’s possible, I give them the information they’re most likely to care about, whether it be unique findings, rather specialized tests with abnormal results, rare symptoms, what has and has not been done, by whom (or where) I’ve been seen, etc.
I have also found that the best source on the rare stuff is also teaching hospitals and tertiary care centers – your basic Mayo, Johns Hopkins, Mass General – the big names.
And the best sources are often in Asia or Europe. Don’t be shy
My response rate has always been extremely high. It’s kind of incredible, really.
You have to learn the lingo. You have to build up enough foundational knowledge to have a useful conversation with the health care providers. You have to be assertive without putting them on the defensive.
You have to be patient and persistent.
Nearly every story I’ve ever heard from every zebra patient has involved far too much time on a ‘medical odyssey’ before getting the ‘final’ diagnosis, and far too many unproductive/distressing encounters.
You have to get in front of the right person (and then everything suddenly makes sense, and you feel so profoundly validated) … which … generally involves becoming the right person yourself.
It’s an awfully big incremental burden if/when you’re sick, but … we are where we are.
My daughter is a pediatric Social Worker at one of the biggest medical centers in the country. She wasn’t personally aware of Hinman but said they deal with lots of rare bladder syndromes.
She recommended looking at NORD: the National Organization of Rare Diseases. They have information about Hinman’s but not much on patient resources. However, I thought I’d mention NORD here in case others come across this thread.
I am just now seeing this. I’ve been offline. I am glad you seem to have made the connection. Cherish your loved one.