How to navigate our child's illness when no one seems to know anything?
July 15, 2015 9:09 PM Subscribe
I know, YANMD. But how do we know how to find proper medical advice for our son's rare condition - or even whom to trust - when there doesn't seem to be a doctor who actually knows the answers yet?
Our 6 year old son was just diagnosed with an incredibly rare variation of a very rare childhood blood disorder. From the several doctors we have spoken with over the past few months of diagnosis, there simply are no experts in the field. The suggested treatment is chemo, even though his cells are not cancerous. This is freaking us out, not least because the only reason this is the recommended treatment is that in 2-3 other cases (I think literally 2 or 3), this seemed to have worked. The most informative website on the condition actually says, "Because this disease is so rare, no large studies have been performed, and there is no established, proven treatment for the more complicated cases." The specialist we have spoken with believes that since more than one of his major organs are involved, if left untreated it could be life-threatening. But right now he is being treated with steroids and is doing just fine - it's an episodic illness, one that most kids (the ones who have the non-rare presentation) grow out of with no treatment - and we don't know if his next episode is months away, years away, or never. I hate thinking we are going to subject our little boy to such an aggressive treatment for something that seems to be manageable with steroids, since - as far as our current doctor knows - there isn't any recommended middle ground. I tried looking for online forums and parent groups associated with the disorder, but so far have not had much luck.
We are in the process of getting second and third opinions, via doctors recommended by our doctor. But none of them have ever seen a case like our son's. And since the recommended specialists are all pediatric oncologists, there doesn't seem to be any hesitation about going straight to chemo - which seems a bit like the "when all you have is a hammer, everything looks like a nail" scenario to us. So how do we navigate this so that we're not too cautious, but also not more aggressive than is actually called for? More importantly, how do you even find an expert in the field when the people in the field that you have, say there aren't any?
Our 6 year old son was just diagnosed with an incredibly rare variation of a very rare childhood blood disorder. From the several doctors we have spoken with over the past few months of diagnosis, there simply are no experts in the field. The suggested treatment is chemo, even though his cells are not cancerous. This is freaking us out, not least because the only reason this is the recommended treatment is that in 2-3 other cases (I think literally 2 or 3), this seemed to have worked. The most informative website on the condition actually says, "Because this disease is so rare, no large studies have been performed, and there is no established, proven treatment for the more complicated cases." The specialist we have spoken with believes that since more than one of his major organs are involved, if left untreated it could be life-threatening. But right now he is being treated with steroids and is doing just fine - it's an episodic illness, one that most kids (the ones who have the non-rare presentation) grow out of with no treatment - and we don't know if his next episode is months away, years away, or never. I hate thinking we are going to subject our little boy to such an aggressive treatment for something that seems to be manageable with steroids, since - as far as our current doctor knows - there isn't any recommended middle ground. I tried looking for online forums and parent groups associated with the disorder, but so far have not had much luck.
We are in the process of getting second and third opinions, via doctors recommended by our doctor. But none of them have ever seen a case like our son's. And since the recommended specialists are all pediatric oncologists, there doesn't seem to be any hesitation about going straight to chemo - which seems a bit like the "when all you have is a hammer, everything looks like a nail" scenario to us. So how do we navigate this so that we're not too cautious, but also not more aggressive than is actually called for? More importantly, how do you even find an expert in the field when the people in the field that you have, say there aren't any?
Are you in the US? If it were me, I'd plant myself at UCLA or the Mayo Clinic or whatever major medical center is near me and start there because they've got different resources. (Unless of course you're already at one of those, then maybe try a different one if you can afford to.)
posted by Hermione Granger at 9:31 PM on July 15, 2015 [6 favorites]
posted by Hermione Granger at 9:31 PM on July 15, 2015 [6 favorites]
Is there an online support group for children with rare blood disorders? Have you joined one? I am not suggesting you take medical advice from a Facebook or Yahoo group. But parents in online medical support groups often share information about medical studies they've found, treatment options they've tried, and good doctors to consult. I've learned more about how to manage my child's life-threatening medical condition via the resources offered me in a couple of support groups than I ever did in my local doctor's office (sadly).
posted by BlueJae at 10:09 PM on July 15, 2015 [1 favorite]
posted by BlueJae at 10:09 PM on July 15, 2015 [1 favorite]
I would go to a tertiary/quaternary care center like Hopkins, Cleveland Clinic, Mayo Clinic, or Harvard. Even if they haven't seen it before, the physicians there are way more accustomed to dealing with "zebras." Best wishes to you and your family!
posted by gemutlichkeit at 10:53 PM on July 15, 2015 [9 favorites]
posted by gemutlichkeit at 10:53 PM on July 15, 2015 [9 favorites]
You need to contact the major "university hospitals" that has procedures to deal with the rare conditions. The catch is you child may endure a lot of pricks and whatnot as a study subject, and maybe there is no cure, but it's pretty certain your local doctors likely won't be able to do anything any way.
If you have a major "Children's Hospital" I'd start there. Find the prior cases and look through their case history and start contacting the doctor(s) involved in them, and their departments and so on and so forth.
posted by kschang at 11:24 PM on July 15, 2015 [1 favorite]
If you have a major "Children's Hospital" I'd start there. Find the prior cases and look through their case history and start contacting the doctor(s) involved in them, and their departments and so on and so forth.
posted by kschang at 11:24 PM on July 15, 2015 [1 favorite]
Not sure where you're located, but you might want to get in touch with UCSF. They have a couple of pediatric oncologists who take a special interest in the non-rare and rare versions of your son's condition, although who knows how their experience will transfer over to the incredibly rare variant he has. Worth a shot, though.
posted by un petit cadeau at 12:34 AM on July 16, 2015
posted by un petit cadeau at 12:34 AM on July 16, 2015
Hermione Granger has your answer, specifically, IMHE.
Call UCLA. MeMail me if you want the name of a doctor who can help get you to the specialists you need. No doctor is infallible, but I know first hand they are beyond first rate with pediatric situations like yours. I hope you are in the US.
If there is a great teaching hospital in your area, that's a great first stop. If you can sort out UCLA - do it. Maybe they can consult from afar? I don't know how that works, but anything is possible when you are caring parents. Find a team that is on your son's side, not just folks who are doing their best. In this situation, well meaning but ignorant of the options is not the "best" and is not good enough.
There is a reason UCLA is a top rated hospital. Standards are high. Without betraying my own and any other family's medical history, I have no problem telling the Internet that UCLA's Pediatrics Department is even better than the hospital's general top rating.
In your situation, I would not hesitate to reach out to them. Don't give up, because you are correct, your son needs a more specialized approach.
posted by jbenben at 2:13 AM on July 16, 2015
Call UCLA. MeMail me if you want the name of a doctor who can help get you to the specialists you need. No doctor is infallible, but I know first hand they are beyond first rate with pediatric situations like yours. I hope you are in the US.
If there is a great teaching hospital in your area, that's a great first stop. If you can sort out UCLA - do it. Maybe they can consult from afar? I don't know how that works, but anything is possible when you are caring parents. Find a team that is on your son's side, not just folks who are doing their best. In this situation, well meaning but ignorant of the options is not the "best" and is not good enough.
There is a reason UCLA is a top rated hospital. Standards are high. Without betraying my own and any other family's medical history, I have no problem telling the Internet that UCLA's Pediatrics Department is even better than the hospital's general top rating.
In your situation, I would not hesitate to reach out to them. Don't give up, because you are correct, your son needs a more specialized approach.
posted by jbenben at 2:13 AM on July 16, 2015
my heart goes out to you, my son is also six.
I have a friend who is a medical doctor and an advocate for children with rare diseases in our country (but only German speaking). She told me there are centres for children with rare diseases in many countries, a quick google seems to confirm that: I googled rare childrens disease center and it shows a list of them .
wishing you strength and endurance,
posted by 15L06 at 2:13 AM on July 16, 2015 [2 favorites]
I have a friend who is a medical doctor and an advocate for children with rare diseases in our country (but only German speaking). She told me there are centres for children with rare diseases in many countries, a quick google seems to confirm that: I googled rare childrens disease center and it shows a list of them .
wishing you strength and endurance,
posted by 15L06 at 2:13 AM on July 16, 2015 [2 favorites]
Response by poster: Thanks so much for the responses so far. We are in New York, consulting at NYU and currently getting a second opinion at Sloan Kettering. I have no problem with reaching out to doctors at UCLA, but am not sure how I would go about finding someone with expertise in his condition - we have a research doctor in the family who is looking up what he can find, and coming up mostly blank.
posted by my left sock at 4:07 AM on July 16, 2015
posted by my left sock at 4:07 AM on July 16, 2015
I know a child who receives chemo for a non-cancerous and rare blood disorder. The child travels from the Mid-Atlantic to this hospital for treatment (although the children's hospitals in Philly and Boston would be much closer -- her parents feel Cincinnati is THE place for her particular disease). I wish you the best in navigating this challenging time.
posted by katie at 4:10 AM on July 16, 2015 [1 favorite]
posted by katie at 4:10 AM on July 16, 2015 [1 favorite]
I had to go to CHOP in Philly for a second opinion about my baby in utero. They were amazing - I would 100% recommend you go there for a second opinion.
posted by yarly at 4:44 AM on July 16, 2015 [1 favorite]
posted by yarly at 4:44 AM on July 16, 2015 [1 favorite]
Off-the-wall idea that's probably not helpful, but is a possibility if nothing else works: track down individual patients/parents with this condition, and ask them your questions. A private detective might even be able to help here.
I think some people have set up special-interest web sites to start collecting information of this sort, and to attract and combine the interests of others -- there might not yet be a central information repository for your child's condition, so someone needs to set it up.
posted by amtho at 5:19 AM on July 16, 2015
I think some people have set up special-interest web sites to start collecting information of this sort, and to attract and combine the interests of others -- there might not yet be a central information repository for your child's condition, so someone needs to set it up.
posted by amtho at 5:19 AM on July 16, 2015
I tried looking for online forums and parent groups associated with the disorder, but so far have not had much luck.
You may be aware of it, but if not: the National Organization for Rare Disorders (NORD) has general information and links to patient organizations. If one does not exist, they can assist you in creating your own.
Best wishes; your son is lucky to have a parent who is a loving and determined advocate.
posted by Mr.Know-it-some at 6:47 AM on July 16, 2015 [2 favorites]
You may be aware of it, but if not: the National Organization for Rare Disorders (NORD) has general information and links to patient organizations. If one does not exist, they can assist you in creating your own.
Best wishes; your son is lucky to have a parent who is a loving and determined advocate.
posted by Mr.Know-it-some at 6:47 AM on July 16, 2015 [2 favorites]
I sent you a meMail that has more detail than is appropriate to post here. But I will reiterate that I'll be happy to send you copies of any research articles you want (many are behind a paywall unless you're part of a large university community).
If you're able to find published case studies (even if it's just a single case) that are relevant to your son's condition, the papers' authors will include the treating physician and that would be an excellent way to locate the 2-3 physicians that treated the 2-3 known similar cases. There's no guarantee that all or any of those cases have been published, but physicians at large academic centers often do publish case studies for patients with very rare diseases, so there's a reasonable chance.
Best wishes navigating this.
posted by telepanda at 7:07 AM on July 16, 2015 [5 favorites]
If you're able to find published case studies (even if it's just a single case) that are relevant to your son's condition, the papers' authors will include the treating physician and that would be an excellent way to locate the 2-3 physicians that treated the 2-3 known similar cases. There's no guarantee that all or any of those cases have been published, but physicians at large academic centers often do publish case studies for patients with very rare diseases, so there's a reasonable chance.
Best wishes navigating this.
posted by telepanda at 7:07 AM on July 16, 2015 [5 favorites]
Boston Children's Hospital has a Blood Disorders Center. I can't compare them to UCLA, but they're a world-class hospital and only 4-5 hours from you by car. They also do a lot of work on rare diseases.
posted by alms at 8:27 AM on July 16, 2015
posted by alms at 8:27 AM on July 16, 2015
NIH actually has a program where they bring specialists together to diagnose rare, undiagnosed diseases. If you are operating under this much uncertainty (eg. there's not enough data to even be sure your son has what you've been told he has, exactly, or whether it's a variation that perhaps has subtle differences from other cases), they may be able to help: https://rarediseases.info.nih.gov/research/pages/27/undiagnosed-diseases-program
posted by Ausamor at 8:30 AM on July 16, 2015 [5 favorites]
posted by Ausamor at 8:30 AM on July 16, 2015 [5 favorites]
In order to try to find particular experts, you could try looking up scientific papers about the condition and seeing who authored them. I'm not sure whether that would help you find a clinical expert, but it might.
posted by toomuchkatherine at 10:12 AM on July 16, 2015 [1 favorite]
posted by toomuchkatherine at 10:12 AM on July 16, 2015 [1 favorite]
I do work with the Mayo Clinic occasionally, and on a professional level they are frustrating to no end, but the one thing I have to give them credit for is that they are the place to go for rare conditions with no experts and no accepted course of treatment. If you need to get a multidisciplinary team of doctors to work together, they're the place to do it.
posted by Oktober at 10:52 AM on July 16, 2015 [1 favorite]
posted by Oktober at 10:52 AM on July 16, 2015 [1 favorite]
If you are able, I'd suggest seeking second opinions from both CHOP and Boston Children's. They're both excellent pediatric specialty hospitals and both (reasonably) close to New York. They deal with many unusual cases and have a lot of resources; that's where I'd go if I had a child with a rare disorder.
Best of luck.
posted by n. moon at 12:27 PM on July 16, 2015
Best of luck.
posted by n. moon at 12:27 PM on July 16, 2015
Would you be willing to share the scientific name of the condition with us?
Also, not all "chemo" is the same scary stuff. The steroids are a kind of chemotherapy; any time a drug is given, that's a kind of chemotherapy.
Seconding toomuchkatherine, check pubmed for any published scientific literature on the condition, then check to see who the senior author(s)/principle investigator(s) are. These would be the closest thing to experts in the condition.
posted by porpoise at 12:31 PM on July 16, 2015 [2 favorites]
Also, not all "chemo" is the same scary stuff. The steroids are a kind of chemotherapy; any time a drug is given, that's a kind of chemotherapy.
Seconding toomuchkatherine, check pubmed for any published scientific literature on the condition, then check to see who the senior author(s)/principle investigator(s) are. These would be the closest thing to experts in the condition.
posted by porpoise at 12:31 PM on July 16, 2015 [2 favorites]
I was also going to suggest NIH's Rare Diseases program.
I also wanted to say that long term steroids are not necessarily more benign than chemotherapy.
Best to you and your little boy.
posted by i_am_a_fiesta at 6:49 PM on July 16, 2015
I also wanted to say that long term steroids are not necessarily more benign than chemotherapy.
Best to you and your little boy.
posted by i_am_a_fiesta at 6:49 PM on July 16, 2015
If there are 2 or 3 known cases, there are 1 - 3 doctor(s) who published their results. Teaching hospitals have a library with access to subscription-only resources, and a librarian; see if you can track down studies and contact those experts.
Wishing you the best.
posted by theora55 at 6:20 AM on July 17, 2015
Wishing you the best.
posted by theora55 at 6:20 AM on July 17, 2015
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Hugs for your whole family. It's terrifying. We're facing a scary kid thing right now and I feel for you. The more solid you are in whatever decision you make, the easier it will be. And know that if the doctors don't know/agree, all you can do is make the best decision you can. More hugs. And see a haematologist for that second (third, fourth?) opinion from a different angle.
posted by taff at 9:19 PM on July 15, 2015 [1 favorite]