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My 13-year-old son had been highly athletic his entire life. About 18 months ago we noticed him losing strength in his legs. Over time it has gotten worse and he cannot run normally anymore.

He has lost muscle in his hips (his hip bones will not stay in place because of lack of muscle), the muscle that holds his knee cap in place shows signs of atrophy, etc. We have seen an ortho doctor (did MRI for tutors) nothing, went to neurologist and had testing done on his nerves, everything came back fine, went to geneticist everything came back normal, went to rheumatologist, his joints are fine.

No one can tell us why he is losing muscle. We are at a loss. His arms do not seem to be affected, only his torso and thighs, and now knees. We are desperate for answers to help our son. Physical therapy seems to maintain muscle but not improve him.

Anyone ever had this with their child?

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    I have not and I wish you and your son the best. I think you have a stellar question in that you are not asking for medical advice, but how to find the proper professional for a correct evaluation. Have you asked the Docs, "Since we see atrophy and loss of ability and nothing you know to test indicates an area, is there a specialist you can refer for such issues?" Jul 13 '14 at 0:04
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    Since you've seen the geneticist I'm hoping that he or she ruled out MD (muscular dystrophy)? Other tests that would rule that out would be a muscle biopsy and an enzyme test to look for specific enzymes that signal muscle damage. I'm not a doctor, I just know that's how MD was diagnosed in one of my father-in-law's students. He was 15.
    – Jax
    Jul 13 '14 at 14:26
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    I don't understand why a muscle biopsy hasn't been done. Has he had blood tests done? I see the specialists he's seen but besides an MRI (for tutors? Do you mean tumors? Was it for head/lower spine? Both/other) and EMG, what other tests have been done? There must be more. Jul 13 '14 at 22:23
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    Do you have a pediatrician/Family Physician? That is who should be coordinating your son's care; they should be reading all the reports/recommendations/results and directing your next step. The geneticist was a good idea: there are neuromuscular disorders besides MD. An endocrinologist is a good idea. It's important that someone be advocating (and assertively) on your behalf. Where you live would dictate what facility you might be referred to; e.g. in the MidAtlantic States, I would recommend Johns Hopkins. Someone (one doc) should be at the helm; your job is to "encourage" that doc to refer. Jul 14 '14 at 4:10
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    Added to last comment: you don't need a referral to a specialist at a high-quality tertiary care facility; a Peds-to-Peds referral would be fine. I would also recommend that you look into possibly getting a good (physician?nurse) patient advocate if your your primary provider isn't aggressive enough. Their job is to go through all the records, search esoterica, and accompany the patient on visits, suggesting tests to the consultant if he missed any, and reiterating/discussing what the consultant said in plain English. (Some only help with billing, however, so check.) Jul 15 '14 at 7:55
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Source: My daughter has had several hospital stays in three metropolitan areas, due to her cerebral palsy.

Have you ever stopped to wonder why parents have so much control over medical decisions, when they are not the experts? Two reasons:

  • Doctors' ability varies much more than they would like you to believe. Diagnosing a rare condition is extremely difficult, and not all doctors are up to the task.
  • Parents are the only ones who get the big picture. Specialists take a very narrow view of a problem. We have literally had two specialists give us exact opposite advice concerning our daughter, on multiple occasions. Only parents are equipped to reconcile those different viewpoints.

How does that knowledge help you in this particular circumstance?

  • Get second opinions from different doctors in the same specialty. You might have to drive to a larger city to get better caliber doctors. We live in a metro area of 400,000 and only use local doctors for routine care. We drive two hours for anything requiring a hospital, if it's at all possible.
  • Try to find a cross-disciplinary clinic. Our daughter's neurologist has a thing where we go all day, he and two or three other specialists all examine her, then they get together and decide together what to recommend. Having all the specialists in one place helps ensure they cover all the bases. It's possible there's something they all assume someone else has already checked.
  • Become an expert on your child's condition, and actively participate. Don't just assume they have covered every possibility. Do your own research on possible causes, and sit down with your doctors and ask if and why each possible condition was eliminated. Then do follow up research and go back again with better questions, like "You said he doesn't have X because of Y, but my research says X can happen without Y, and his other symptoms seem to fit really well. Do you have corroborating reasons to eliminate X?" You can't replace the doctor's expertise, but by being a sounding board and double-checking you can trigger paths of investigation.
  • Be assertive, and follow your gut. You are in the perfect position to think outside the box, because you don't work in the box like the doctors do.
  • Specifically ask each of your doctors who they would see next. As part of their training they do rotations in various disciplines, so they have a pretty good idea of who is good at what. Some doctors have a hard time admitting something is above their head, though, so you have to be assertive about asking.
  • Ask nurses who they would take their child to. Nurses bear the brunt of complaints against sub par doctors, because they have more patient contact. They change jobs more often, and they talk to each other in the same way we might complain about our boss. Same goes for therapists. One time we fired our neurosurgeon and transferred to a different hospital, a decision which the nurses wholeheartedly supported, and which turned out to be one of the best medical decisions we ever made. We wish we would have brought it up sooner.
  • When a doctor says something is a last resort, like the biopsy, get a list of everything they would like to try first, push to get it done quickly, and hold them to the list. If they want to add something to the list later, make sure they have a good reason for it, like a follow up to test results that weren't available when the list was first made. Sometimes doctors kind of fish around hoping to avoid something uncomfortable, and the parent must insist in order to move forward.
  • Doctors have an annoying habit of scheduling one test at a time, so by the time you get the test and a follow up appointment, it's a pretty long feedback cycle. Try to push for multiple tests in parallel, unless the doctor can give a good reason to hold off.
  • Your son has one giant symptom, which makes it easy sometimes to neglect the smaller symptoms. Take note of those and ask the doctors if they might be relevant. Some symptoms are much more serious for very ill children. For example, most parents don't think much of a mild fever, but for my daughter we often end up in the hospital for a spinal tap when she gets a fever.
  • Bring your husband or other trusted adult to important appointments, and write things down and/or ask for written handouts. Doctors sometimes deluge you with information. I'm amazed at how often one of us will miss something that the other catches.
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    The rheumatologist is the specialist in autoimmune disorders. Joint disease is a result of some autoimmune disorders. Immunologists deal with allergies. As a doc, I think you have some really valuable advice in your answer, but also some that is too specific to your daughter's known condition to be of much use, and some of it is just wrong. Your experience doesn't translate universally. Jul 15 '14 at 8:01
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Have you seen an endocrinologist? It could be diabetic amyotrophy. It's a fairly rare complication of diabetes mellitus, and especially rare in people under 30 though it does happen.

From the article Diagnosis and management of diabetic amyotrophy (Geriatric Medicine (UK), 2010):

Proximal muscle weakness and wasting in quadriceps, hip adductors, and iliopsoas muscles is characteristic... The knee-jerk reflex is absent, with ankle jerks commonly preserved; however, ankle jerks also may be absent with underlying distal symmetrical polyneuropathy.

There is an article about a 16-year-old with the disease in Ulster Medical Journal. The boy experienced increasing clumsiness, and doctors noted wasting of thighs and calves, hyper-extension of knees, inability to stand on tiptoes, and absent tendon reflexes. The boy had marked improvement with control of his diabetes.

I don't know if this will be helpful. Best wishes.

Additional articles:

Diabetic amyotrophy in an adolescent responsive to intravenous immunoglobulin (Jose Americo Fernandes Filho, et al.) Muscle & Nerve, Volume 32, Issue 6, pages 818–820, December 2005.

Prevalence of Diabetes Complications in Adolescents With Type 2 Compared With Type 1 Diabetes (Maike C. Eppens, et al.) Diabetes Care June 2006 vol. 29 no. 6 1300-1306.

Diabetic neuropathy in children and adolescents (Daniela Trotta, et al.) Pediatric Diabetes, Volume 5, Issue 1, pages 44–57, March 2004.

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