How can we get our eight-year-old son diagnosed and feeling better?
August 11, 2008 10:55 AM Subscribe
How can we get our eight-year-old son diagnosed and feeling better? (long)
Pre-apologies for rambling. Key facts: 1) I'm in perfect health 2) My wife has MS and has been on meds for 4 years and 3) We live in Salt Lake City and face extreme hot and cold temps. We're planning a move from SLC to a more neutral climate.
My eight-year-old son has had a miserable quality of life for the last four years. Through a long diagnostic process including two biopsies, he was diagnosed with Chronic recurrent multifocal osteomyelitis. We've tried MANY treatments for the CRMO pain, none have really worked. Short doses of steroids took the edge off but they're not a long-term solution.
In addition to the lesions on his bones(due to CRMO), he has developed MANY other symptoms, including:
- Constant, constant fatigue
- sensitivity to hot/cold temperatures
- frequent skin lesions
- hip/pelvic pain
- random pain in extremities
- painful urination
- burning sensation in boy parts/bladder
- eye fatigue/pain (vision is manageable but his EP is considered slow)
He's had bone scans that have shown issues in his lower extremities. He shows an elevated SED rate and has high inflammatory markers in blood tests.
One of the first symptoms he showed was dragging his foot when he walks. He also falls down a lot.
Repeated MRI images show multiple white spots(lesions) on his brain. The MRI is repeated every 6 months, the spots have been fairly consistent in size, number, and placement.
He's not exactly sleeping well, and that's also contributing to his poor quality-of-life. He often leaves school early due to pain or unmanageable fatigue. His teachers notice and have been very supportive. He's also developed personality and anxiety issues due to not feeling well and the constant doctors visits and tests. His ability to cope with his symptoms have improved over the last year.
He is under the care of a top-notch Rheumatologist, a respected pediatric neurologist, a team of doctors at the UCSF pediatric neurology institute, and associated other specialists, such as highly specialized optometrists who deal with neurologic issues, as well as a dermatologist.
All of these physicians acknowledge the symptoms and issues, but we can't seem to improve our son's life. Eyedrops here, skin cream there, but there is nothing that explains or ties together all of his symptoms. Its always "take this test or MRI and we'll see in 6 months." The neurologists don't think he pediatric MS but have suggested he try MS meds in the past.
His sensitivities to extreme hot/cold temps, a sometimes-drooping left eye, and the spots on the brain MRI lead us to believe that this issue might have a neurological foundation - the neurologists have tried everything short of interferon medication to treat him. Without a firm diagnosis or explanation, we are not too hot on the idea of giving him interferon due to the side-affects.
Otherwise, my son is bright and motivated-he wants to get out and play, but pays the price in pain and fatigue shortly thereafter. He loves school, loves to read, and simply is frustrated and not understanding with his condition. He has a younger brother in perfect health, he often questions why he shows so many symptoms that his little brother doesn't. Additionally, its been difficult for us to keep our understanding (and sometimes cool) while watching our son be miserable and in pain.
What are we not doing? What could we be doing better? We haven't left too many stones unturned - we've taken him to UCSF to be evaluated; we're contacting other out-of-state facilities as well. He's about to enter the third grade and we don't want him to have a repeat of second grade, where he missed a lot of school due to not feeling well. Are there any types of specialists or conditions that we're not looking into? What do we need to demand more of from our doctors? He's been affected for far too long without any real explanations or effective treatment.
Pre-apologies for rambling. Key facts: 1) I'm in perfect health 2) My wife has MS and has been on meds for 4 years and 3) We live in Salt Lake City and face extreme hot and cold temps. We're planning a move from SLC to a more neutral climate.
My eight-year-old son has had a miserable quality of life for the last four years. Through a long diagnostic process including two biopsies, he was diagnosed with Chronic recurrent multifocal osteomyelitis. We've tried MANY treatments for the CRMO pain, none have really worked. Short doses of steroids took the edge off but they're not a long-term solution.
In addition to the lesions on his bones(due to CRMO), he has developed MANY other symptoms, including:
- Constant, constant fatigue
- sensitivity to hot/cold temperatures
- frequent skin lesions
- hip/pelvic pain
- random pain in extremities
- painful urination
- burning sensation in boy parts/bladder
- eye fatigue/pain (vision is manageable but his EP is considered slow)
He's had bone scans that have shown issues in his lower extremities. He shows an elevated SED rate and has high inflammatory markers in blood tests.
One of the first symptoms he showed was dragging his foot when he walks. He also falls down a lot.
Repeated MRI images show multiple white spots(lesions) on his brain. The MRI is repeated every 6 months, the spots have been fairly consistent in size, number, and placement.
He's not exactly sleeping well, and that's also contributing to his poor quality-of-life. He often leaves school early due to pain or unmanageable fatigue. His teachers notice and have been very supportive. He's also developed personality and anxiety issues due to not feeling well and the constant doctors visits and tests. His ability to cope with his symptoms have improved over the last year.
He is under the care of a top-notch Rheumatologist, a respected pediatric neurologist, a team of doctors at the UCSF pediatric neurology institute, and associated other specialists, such as highly specialized optometrists who deal with neurologic issues, as well as a dermatologist.
All of these physicians acknowledge the symptoms and issues, but we can't seem to improve our son's life. Eyedrops here, skin cream there, but there is nothing that explains or ties together all of his symptoms. Its always "take this test or MRI and we'll see in 6 months." The neurologists don't think he pediatric MS but have suggested he try MS meds in the past.
His sensitivities to extreme hot/cold temps, a sometimes-drooping left eye, and the spots on the brain MRI lead us to believe that this issue might have a neurological foundation - the neurologists have tried everything short of interferon medication to treat him. Without a firm diagnosis or explanation, we are not too hot on the idea of giving him interferon due to the side-affects.
Otherwise, my son is bright and motivated-he wants to get out and play, but pays the price in pain and fatigue shortly thereafter. He loves school, loves to read, and simply is frustrated and not understanding with his condition. He has a younger brother in perfect health, he often questions why he shows so many symptoms that his little brother doesn't. Additionally, its been difficult for us to keep our understanding (and sometimes cool) while watching our son be miserable and in pain.
What are we not doing? What could we be doing better? We haven't left too many stones unturned - we've taken him to UCSF to be evaluated; we're contacting other out-of-state facilities as well. He's about to enter the third grade and we don't want him to have a repeat of second grade, where he missed a lot of school due to not feeling well. Are there any types of specialists or conditions that we're not looking into? What do we need to demand more of from our doctors? He's been affected for far too long without any real explanations or effective treatment.
Check out http://www.youtube.com/watch?v=Xh86RcgUihc
This might help.
Good luck.
posted by watercarrier at 12:05 PM on August 11, 2008
This might help.
Good luck.
posted by watercarrier at 12:05 PM on August 11, 2008
Response by poster: @kldickson yes he has. the visits are not exactly frequent, but has helped in his ability to deal with the frustration and the situation in general.
posted by neilkod at 12:11 PM on August 11, 2008
posted by neilkod at 12:11 PM on August 11, 2008
Sounds like a very difficult situation, but it sounds like you *are* doing as great a job as you could possibly do, and I'm sorry that you and your son are both having so much difficulty. There's always the recommendation to get a second opinion--when you're over at UCSF, you could, say, drive down to Stanford and see what they think.
I don't think you're going to get a whole lot of advice in terms of diagnosis or treatment on Ask Metafilter (perhaps from ikkyu2), but it sounds to me like the physicians you're seeing are being as thorough as they could be. Physicians are only falliable humans--we certainly don't have all the answers, explanations, or effective treatments for a huge number of diseases--ones much more common than your son's. This is not meant at all to a fatalistic message to give up, just that we are far from understanding why people have certain diseases and certain symptoms and certain pains.
(I would also hesitate to recommend oxygen treatments from a non-MD who advertises on YouTube, but that's just me. I tend to think many patients who unfortunately do not get effective treatment from physicians--for whatever reason--are often preyed upon by alternative medicine people who charge great deals of money for what often is simply the placebo effect.)
posted by gramcracker at 12:13 PM on August 11, 2008
I don't think you're going to get a whole lot of advice in terms of diagnosis or treatment on Ask Metafilter (perhaps from ikkyu2), but it sounds to me like the physicians you're seeing are being as thorough as they could be. Physicians are only falliable humans--we certainly don't have all the answers, explanations, or effective treatments for a huge number of diseases--ones much more common than your son's. This is not meant at all to a fatalistic message to give up, just that we are far from understanding why people have certain diseases and certain symptoms and certain pains.
(I would also hesitate to recommend oxygen treatments from a non-MD who advertises on YouTube, but that's just me. I tend to think many patients who unfortunately do not get effective treatment from physicians--for whatever reason--are often preyed upon by alternative medicine people who charge great deals of money for what often is simply the placebo effect.)
posted by gramcracker at 12:13 PM on August 11, 2008
And there is more information here on Hyperbaric Medicine and its applications in neurological disorders. Please find out as much as you can about this possibility for your son. There are many resources out there. Again - good luck and good health.
posted by watercarrier at 12:16 PM on August 11, 2008
posted by watercarrier at 12:16 PM on August 11, 2008
NINDS
NICHD
NIAMS
I am sure you are exhausted with researching, but it sounds like it's going to take more digging. If you have not already gone to the NIH websites, please start with the ones I have linked. You can look for clinical trials and you can also contact different program departments and/ or public policy departments to see if you can locate the actual names of researchers who may be able to guide you to more answers.
Good luck to you.
posted by mistsandrain at 12:22 PM on August 11, 2008
NICHD
NIAMS
I am sure you are exhausted with researching, but it sounds like it's going to take more digging. If you have not already gone to the NIH websites, please start with the ones I have linked. You can look for clinical trials and you can also contact different program departments and/ or public policy departments to see if you can locate the actual names of researchers who may be able to guide you to more answers.
Good luck to you.
posted by mistsandrain at 12:22 PM on August 11, 2008
Also- is it possible for you to hire a private tutor for your son? Someone who can work with his teachers to help him keep up? I seem to recall that even some public schools have staff who are trained to do this...
posted by mistsandrain at 12:53 PM on August 11, 2008
posted by mistsandrain at 12:53 PM on August 11, 2008
Gonna take a shot in the dark here, but have you ruled out Lyme Disease? He seems to have many of the symptoms and even here in the Northeast where the disease is very prevalent it can remain un/misdiagnosed for years. Utah is a low risk state for Lyme so that might be why the doctors aren't looking in that direction. Here's a link to someone with the symptoms similar to your son.
posted by any major dude at 12:57 PM on August 11, 2008
posted by any major dude at 12:57 PM on August 11, 2008
Response by poster: @any major dude wow great article, he seems to fit a lot of those symptoms to a T. However, about two years ago he did go through about 3-4 weeks of antibiotics via a PIC line because an infectious diseases specialist thought it would take care of his symptoms. I'm not sure if he considered Lyme due to the locale, but he thought that there was another disease at play - I can't remember the name.
posted by neilkod at 1:13 PM on August 11, 2008
posted by neilkod at 1:13 PM on August 11, 2008
investigate pediatric pain specialists. pain control for people with chronic pain is a complicated thing and there are people who specialize in it. good luck!
posted by thinkingwoman at 2:41 PM on August 11, 2008
posted by thinkingwoman at 2:41 PM on August 11, 2008
missmagenta - Lane Scott, PhD is a neuroscience medical researcher in Campbell, California so no, I guess gramcracker's point is not valid.
So? I'm a biomedical science researcher who will soon have a PhD in immunology. I focus on the treatment of a specific disease and my understanding of that disease at a mechanistic level would be greater than most MDs. I also know a lot about the specific treatment I'm developing and obviously I'm biased and think it's really good. But that doesn't mean I know anything about treating patients or about how to put my treatment into context with the other options out there, and I am not at all qualified to make recommendations (neither are the senior scientists and specialists I work with). Five minutes talking with a clinician makes that clear. My expertise is simply not the same kind as that of an MD and this distinction is an important one for patients to consider when evaluating possible treatment options and the people pushing those options.
To the OP - I'm very sorry you're having to deal with this. My non-expert opinion is also that you're doing a great job trying to deal with this, please continue pushing until you figure it out. Unfortunately you're right in the prime demographic for people to be taken advantage of by snake oil salesmen: running out of options and grasping for an answer. Please be careful about evaluating the credentials of the medical people you work with and continue to look for peer reviewed data to back up any new plans (particularly if they cost a lot of money).
posted by shelleycat at 4:51 PM on August 11, 2008
So? I'm a biomedical science researcher who will soon have a PhD in immunology. I focus on the treatment of a specific disease and my understanding of that disease at a mechanistic level would be greater than most MDs. I also know a lot about the specific treatment I'm developing and obviously I'm biased and think it's really good. But that doesn't mean I know anything about treating patients or about how to put my treatment into context with the other options out there, and I am not at all qualified to make recommendations (neither are the senior scientists and specialists I work with). Five minutes talking with a clinician makes that clear. My expertise is simply not the same kind as that of an MD and this distinction is an important one for patients to consider when evaluating possible treatment options and the people pushing those options.
To the OP - I'm very sorry you're having to deal with this. My non-expert opinion is also that you're doing a great job trying to deal with this, please continue pushing until you figure it out. Unfortunately you're right in the prime demographic for people to be taken advantage of by snake oil salesmen: running out of options and grasping for an answer. Please be careful about evaluating the credentials of the medical people you work with and continue to look for peer reviewed data to back up any new plans (particularly if they cost a lot of money).
posted by shelleycat at 4:51 PM on August 11, 2008
Dr. Catherine Skae is a pediatric pain specialist and director of the pediatric pain service at the Children's Hospital at Montefiore Medical Center in the Bronx. She's incredible.
If you can't see her specifically, perhaps someone on her staff can recommend a colleague closer to SLC, such as Lonnie Zeltzer, founder and head of the UCLA Pediatric Pain Program.
It sounds like you are doing some incredibly supportive things already. I hope everything starts to improve.
posted by jeanmari at 5:15 PM on August 11, 2008
If you can't see her specifically, perhaps someone on her staff can recommend a colleague closer to SLC, such as Lonnie Zeltzer, founder and head of the UCLA Pediatric Pain Program.
It sounds like you are doing some incredibly supportive things already. I hope everything starts to improve.
posted by jeanmari at 5:15 PM on August 11, 2008
Just wondering if hypnosis could help with pain management. I took a training course in basic hypnotherapy - the professor could do amazing things in helping people learn to "dial down" pain. It is usually an unlicensed specialty so you would wanted a referral, maybe from a pain specialist, to someone competent and experienced. It won't cure anything but it might make your son much more comfortable.
posted by metahawk at 8:24 PM on August 11, 2008
posted by metahawk at 8:24 PM on August 11, 2008
neilkod, can you elaborate more on why this isn't felt to be a demyelinating disease like MS?
posted by docpops at 8:59 PM on August 11, 2008
posted by docpops at 8:59 PM on August 11, 2008
Mod note: Qualifications derail removed. Take it elsewhere or drop it; this is not the place to have a lengthy fight about bona fides.
posted by cortex (staff) at 6:47 AM on August 12, 2008
posted by cortex (staff) at 6:47 AM on August 12, 2008
This thread is closed to new comments.
posted by kldickson at 11:39 AM on August 11, 2008 [1 favorite]