I need help!! my daughter has been having different medical issues since 2010. We will start with august of 2010. She was diagnosed with Hypothyroidism. She was 17 years old. Her TSH has been theraputic within 2 months and ever since. In November of 2010 She started complaining one night of thigh pain. By the next morning she could not walk. at the ER her CPK level was 4800 they gave fluids sent her home. two days later her CPK levels were over 10,000 she was admitted to George Washington University where she seen every specialist under the sun, but they never came up with the cause. She keeps a low/high CPK level, usually runs in the 200, never another crisis since then. She followed up with neurology, rheumatology, because of muscle weakness and pain, as well as tremors. EMG's normal, but she has hyperactive reflexs. She is a nursing student got busy with the program and frustrated with not obtaining a diagnosis so she elected not to under go further testing. She was told at that time that she probably had some type of molecular muscle disease.
Her current situation is she is allergic to wheat and peanuts. never had a reaction but thats what allergy testing found. She has been complaining of tachycardia, chest pain and palpatations, fatigue, insomnia, anxiety. A holter monitor showed alot of PAC's but otherwise normal. Her CO2 level and vitamin D level is low. Her primary seems to think she has renal tubular acidosis. Appointment with nephrologist in 3 weeks. does anyone have any insight to this. Everything I find says that this is a secondary to a primary disease, but I do not know where to turn since she has been undiagnosed for so many years now.
Any information anyone can give would be greatly appreciated.
Sorry for your daughter. These symptoms seem very uncanny to mine. I, too, have had the "heart" issues and the fatigue, anxiety, etc. I have had an ACTH stimulation test, and will see if my problems are adrenally based, which is looking highly probably-then I come across a post, as yours, and I feel that I am having to start my quest all over again.
You talk of a distinct possibility that your daughter my have RTA, something that I have suspected I might have, too. The similarities between your daughter and me are eriely similar, despite our sex and age difference.
Does your daughter suffer muscle cramps and twitching? I really hope you find out what is going on, and choose to share it with the board! Best wishes for a quick recovery.
Sorry I did not get back to you sooner.. Yes my daughter also suffers from muscle pain.. Not so much "twitching" as she has tremors of her hands. Since she has the issue with elevated CK levels due to the muscle breakdown she drinks a lot of fluids (water) on a daily basis and we originally though this may be causing the acidosis but I could not find a link between the two dispite all of our research! She sees the nephrologist in 2 weeks so I am hoping for some answers.. Everything says that these are secondary to a primary chronic illness.. Just wish someone could come up with what the primary illness is!
Have you ever had rhabdomyolosis? Where they able to find a cause of it or any of your symptoms?
Elevated CK's are a sign of myositis, inflammation and cell breakdown in the muscle tissue. There are different kinds of myositis. Some are related to dermatomyositis, polymyositis, some lupus, some inclusion body myositis. All involve inflammation in the muscle which will wax and wane over time. A muscle biopsy is the surest way to get a diagnosis of which type. A rheumatologist should look for connective tissue disorders such as lupus and dermatomysositis. Inclusion body myositis is usually cared for by a neuromuscular disease specialist. I would see if your local university rheum clinic could see her, and if nothing comes from that, consider taking her to the Mayo clinic. The rhabdomyolysis (breakdown of large amounts of muscle tissue) causes immune complexes to deposit in the kidneys, plus myoglobin, pigments from muscle tissue, and that causes the renal tubular acidosis. This can lead eventually to kidney failure, so it is imperative to get to the bottom of it and keep it controlled with treatment to protect the kidneys. She needs a really good rheum, neuro and the university clinics often deal with unusual or rare conditions that are hard to diagnose, as well as Mayo clinic.
Last edited by ladybud; 04-28-2013 at 10:50 PM.
Reason: added word
Thank you Ladybud!
She was admitted to George Washington university when this first occurred.. Her rheumatologist and neurologist are both from GW they have also suggested a muscle biopsy but advised that we need to wait until she is symptomatic again.. They gave the very broad diagnosis of molecular muscle disorder because they were able to rule out autoimmune diseases such as lupus which was the original suspicion.. Her reflexes are hyperresponsive on one side and delayed on the other.. We unfortunately were unable to get her in for several weeks with a nephrologist in DC so we did take a appt with a local nephrologist hoping he could at least start testing and then transfer her care.. Her primary as well as the other specialist say that all her issues are secondary to a primary chronic illness.. It's just really frustrating that no one can find the primary disorder.. We are hoping the nephrologist may be the missing link to her medical mistery! She is a trooper! Despite all her illnesses she will graduate from college next fall.. And all she has been through has helped her develop into a caring compassionate RN!
It sounds like she is a trooper! One other test that can be helpful is an MRI of the involved muscle areas, such as thighs, during a flare up of symptoms. The MRI shows the areas of inflammation and breakdown and can serve as a guide to where to do muscle biopsy. The biopsy can leave a sizable scar, so she should choose a spot least visible for it. They often use the upper, outer arm (deltoid) which can be a problem for a young lady in sleeveless tops. I hope she stays in a remission with this, but gets a definitive answer when the time is right.