Discussions By Condition: I cannot get a diagnosis.

My 7 yr old is sick. no diagnosis help!!!

Posted In: I cannot get a diagnosis. 13 Replies
  • Posted By: bstroeb
  • June 25, 2008
  • 09:15 PM

Before Feb of this year my 7 year old daughter was a very active energetic child. She was in gymnastics and was so energetic that it was difficult to get her to go to sleep at night. In mid Feb 2008 (Mardi Gras day) she became very lethargic. She started taking naps during the day as well as sleeping all night (10 – 12 hrs a night). We weren’t alarmed by this but thought she may just be tired. Within a few days she went from taking cat naps to extreme exhaustion. She slept 12 hrs at night, slept on the way to school in the morning, slept during school, slept on the way home, and slept in the evening. Basically she could barely stay awake. We took her to the hospital at around day 5 of the sickness when her teacher had to catch her from falling as she looked like she was passing out.

The hospital ran a bunch of blood tests and an MRI and everything came back fine except for a positive ana result and her thyroid levels were a little low (not alarmingly low). They couldn’t find anything significantly wrong with her so they sent us home. We thought maybe she had a virus but she didn’t have a fever throughout this entire sickness. She has no rashes of any kind but had achy knee pain for the past year in one knee.

After a couple weeks past we started to notice her having problems walking and talking (the exhaustion still remained). She would have to hold on to us while walking and had a real shaky voice when talking. This problem was sporadic. One day she would walk/talk find and the other would be shaky. Whenever she laughs she falls down. When she laughs she looks drunk. I ask her how she feels when she gets shaky and she says it feels like she has to sneeze. We then took her to the hospital again.

This time we stayed in the hospital for a week. They had every type of doctor run all kinds of tests as well as a spinal tap. Every test came back fine with the exception of a positive ana and a slightly low thyroid level. The Rheumatologist ruled out lupus and the neurologist only came up with a theory of cerebral ataxia.

We took her to another doctor who ran tests for strep and found extremely high levels of DNase B which showed that she had strep at one time.

It’s been 5 months now and she is not getting better. However, she is not getting worse. It’s been the same sporadic walking/talking episodes and the extreme exhaustion continues. The infectious disease doctor ruled out west nile of various types, cat scratch fever… and has her on a 3 month plan of penicillin. We are really worried! She has had more blood work done than I can list here. It all comes back normal. I want to find out what’s wrong so I can get my daughter back to normal. She is not herself anymore. She has gained 12 pounds and is completely inactive because of this sickness. She has also become very angry and still has problems walking/talking. However she still has normal brain function. She can do reading and math just as well as before the sickness.

Please help!

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13 Replies:

  • First of all, I am so sorry to hear your daughter is not well....I know what it is like to have a sick daughter! The fact that her thryoid levels were a bit low (I have thyroid problems myself) may be significant....It might be good to get an opinion from an endocrinologist and thorough testing of the thyroid including the autoimmune diseases Hashimotos....also she could have thryoiditis which is a temporary inflamation of the thryoid and will cause tiredness and the weight gain and such and actually may take a while (several weeks to months) to recover...but it is temporary. For the best consult would be a pediatric endocrinologist, but endocrinologist is ok as well. For some people, even having thryoid a "bit" low can be significant....not all doctors agree with this, but since it has gone on this long, it might be worth another look and push with the doctors. You might want to research thryoid problems and pituitary problems as well. My daughter actually went through something like this with lethargy and chills and on and on and it turned out to be some kind of chronic fatigue....she is now 15 and though from age 9-12 struggled with feeling poorly off and now, she is now fine. I think her's also started with some kind of virus....In her case all we could do was rest her when she needed it....I am still not sure that she did not have some thryoid involvement as well....hope this helps, Joan
    Joan5555 316 Replies Flag this Response
  • Has the infectious disease doc tested for Lyme? The knee pain is key - this is very common and progresses with symptoms similar to what your daughter's experiencing. Lyme testing is NOT accurate. I think this could be a real possiblity. Igenex and Bowen labs are the only reliable Lyme testing labs. I would retest and find a Lyme literate doc. Also get her on a good quality children's chewable PROBIOTIC. This will help her immune system. Consider finding a good chiropractor, Oriental medical doc, naturopath, or other holistic doc to get your daughter back in shape. Best wishesDOM
    acuann 3080 Replies Flag this Response
  • Whenever she laughs she falls down. When she laughs she looks drunk. i could have an answer to her falling down while laughing but need to have more info first. Can you do the following test with your daughter and get back to me on the result. The following is a neurology test. Have your daughter stand in front of you feet together, hands by her sides and see if she can stand like this okay for one minute.. (it's okay if she rests if needed before trying the next part of the test) Then have her stand the same way but this time have her keep her eyes closed during the minute. (dont tell her she may suddenly fall doing this.. BE PREPARED TO CATCH HER!!). See if she can stand there keeping balance, standing feet together with eyes closed for a minute. Certain problems are indicated if she just cant do this. Please get back on me on how this went................. her voice.. when it's shaky..is it also like weaker??
    taniaaust1 2267 Replies Flag this Response
  • (decided i should give more of an explaination) im thinking that your daughters ataxia may not be cellebral but may be sensory in nature.. the neuro test (called Romberg's test http://en.wikipedia.org/wiki/Romberg%27s_test ) which i gave instructions for my last post.. will show what which it is. (I personally know from experience that doctors and specialists quite often dont do all the tests needed to work something fully out and instead go for the easist explainations along with guess work). Do you know how the neurologist has come to the conclusion that the ataxia is in fact cellebral and not sensory??? If her ataxia is sensory as im suspecting.. (she'll fall or not be able to do the test I suggested while keeping her feet together, she'll sway everywhere and have to move or feet to keep balance or will fall) .. IF this is the case, then would also make sense to me that she falls while laughing. People often shut eyes for moment when laughing!! (so may be like falling in positive romberg's testing). I myself due to the sensory issues i have.. can fall instantly on shutting my eyes. i know of a condition which can cause your daughters issues in which sensory ataxia is also often (but not always) present. (thou the positive ANA could point to other things). Postive rombergs thou would help point to the condition im thinking of.
    taniaaust1 2267 Replies Flag this Response
  • @acuann - The infectious disease doc tested for lyme, the hospital tested for lyme and a family pract tested for lyme. They all said that lyme came back normal. However, they said that its rare that they get a positive lyme test. One doc switched labs because they had never returned an acurate lyme test. @taniaaust1 - I will test her as you instructed an post the results.
    bstroeb 2 Replies Flag this Response
  • The hospital ran a bunch of blood tests and an MRI and everything came back fine except for a positive ana result and her thyroid levels were a little low (not alarmingly low). They couldn’t find anything significantly wrong with her so they sent us home. We thought maybe she had a virus but she didn’t have a fever throughout this entire sickness. She has no rashes of any kind but had achy knee pain for the past year in one knee. Firs of all I would like you to know that I feel so very bad for you having to go thru all this. As a mom I know how worried you must be. With that said, I had to read that quote I marked more then once. She has a positive ANA that is used to help diagnose many different types of autoimmune diseases. Secondly she has has low thyroid levels that can cause more troubles then you might know about. Even if they are only slightly off. No two people react the same way. Some people, like myself have all the symptoms and only slightly elevated levels of TSH, while others have very high levels of TSH and very few symptoms. My first thought is that I would ask to have her put on medication for the thyroid, even if it is just for a short period of time. To see if it helps on any of the symptoms. Secondly I would have her tested for any kind of autoimmune diseases that could cause her to have trouble waking and talking. There are so many different autoimmune diseases, that you should just try looking thru this list and see if any of them fit: http://www.wrongdiagnosis.com/a/ai/glossary.htm Another thing is that she does have joint pain, commonly seen with both hypothyroidism and many autoimmune diseases. Wikipedia (http://en.wikipedia.org/wiki/Hypothyroidism) has a good list of symptoms, but please ignore what they say about common, late and less common symptoms. The list is complete, but sorted wrongly. I know since I myself have a slightly elevated TSH and slightly low T3 and T4, but I had almost every symptom on that list! I wish you the best of luck and hope your little girl finds some relief soon! Kiera
    Anonymous 42789 Replies Flag this Response
  • With that said, I had to read that quote I marked more then once. She has a positive ANA that is used to help diagnose many different types of autoimmune diseases. Secondly she has has low thyroid levels that can cause more troubles then you might know about. Even if they are only slightly off. No two people react the same way. Some people, like myself have all the symptoms and only slightly elevated levels of TSH, while others have very high levels of TSH and very few symptoms. My first thought is that I would ask to have her put on medication for the thyroid, even if it is just for a short period of time. To see if it helps on any of the symptoms. Secondly I would have her tested for any kind of autoimmune diseases that could cause her to have trouble waking and talking. There are so many different autoimmune diseases, that you should just try looking thru this list and see if any of them fit:@Kiera - The doctor did put her on thyroid meds after the second hospital stay and she was on the thyroid meds until late April. We also had her on all sorts of vitamens. She has been off of the thyroid pills for about a month now. She just had bloodwork done monday that came back with toatally normal thyroid levels. They are running a bunch more tests this week.Also, her joint pains have disappeared. She hasn't complained about joint pains for a couple months now. When she use to complain every few days about her knee hurting.They tested her for all kinds of autoimmune diseases and they all come back negative.
    bstroeb 2 Replies Flag this Response
  • Hi my name is Whitney after reading your story I had to reply! I am the sick daughter in my house. After 8 years of similar symtoms to your daughter I got a lot worse. I have had to drop out of college and live with my parents who I am totally dependent on at this time. After every medical tests possible and a list of new diagnosises every couple months someone mentioned chronic lyme disease to me. I knew about the disease, I was almost ready to graduate as a nurse when I dropped out of college, but did not think it is what I had. It is very difficult to diagnosis. I will give you as much information as you need. I am trying to be an advocate and help people who are going through the same things I am. It is worth looking into. I am being treated for it right now with no results and the time but I'm still hopeful. Please feel free to contact me at any time if you want more information...whitbabe@zoomtown.com.
    Anonymous 42789 Replies
    • September 25, 2008
    • 09:54 PM
    • 0
    Flag this Response
  • Hello, so sorry to hear about your daughter. My recommendation is go to the Mayo Clinic in MN, FL or AZ depending on which is closer. They are the best in the world. They find the rarest diseases, they are thorough in thier testing and they have numerous specialists working on one case, not just one doctor doing it all. I'd give it a try...
    Anonymous 42789 Replies Flag this Response
  • Was it narcolepsy / cataplexy ?
    Anonymous 42789 Replies
    • February 24, 2010
    • 04:35 AM
    • 0
    Flag this Response
  • I would look into Kleine Levin Syndrome (KLS) which is charactarized by sleeping spells and exaustion, hyperthyroidism, hypersomnia, diabetes, hashimotos (a thyroid disorder), and excessive daytime sleepiness. Visit an endochrinologist and a neurologist for dealing with the phases of rem and nrem sleep which may help determine your daughter's ailment. Have her take a multiple sleep latency test. http://en.wikipedia.org/wiki/Kleine%E2%80%93Levin_syndromehttp://www.mayoclinic.com/health/hashimotos-disease/DS00567 Don't give up, there are numerous diseases some of which are pretty rare. Medicine is not a perfect science and the patient and patient's family are the best advocates for the health of the patient. Flood doctors with questions and keep searching the internet at mayoclinic.com, http://www.hon.ch/HONselect/RareDiseaseAB.html, discovery health, and other medical sites. Get opinions from lots of doctors don't stop even if you find a diagnosis that sounds comparable. Here is more info, hope this helps: Excessive daytime sleepiness (EDS) is characterized by persistent sleepiness, and often a general lack of energy, even after apparently adequate night time sleep. Sudden involuntary sleep onset, and microsleeps are common complications.citation needed] EDS is a symptom of one of the two forms of the sleep disorder hypersomnia, the other being prolonged nighttime sleep.Some persons with EDS, including those with narcolepsy, are compelled to nap repeatedly during the day; fighting off increasingly strong urges to sleep during inappropriate times such as while driving, while at work, during a meal, or in conversations. As the compulsion to sleep intensifies, the ability to competently complete tasks sharply diminishes, often mimicking the appearance of intoxication.Contentshide]1 Diagnosis2 Causes3 Coping4 External linksedit] DiagnosisAn adult who is compelled to nap repeatedly during the day may have excessive daytime sleepiness. However, it is important to distinguish between occasional daytime sleepiness and excessive daytime sleepiness, which is chronic.A number of tools for screening for EDS have been developed. One is the Epworth Sleepiness Scale which grades the results of a questionnaire. The ESS generates a numerical score from zero (0) to 24 where a score of ten or higher may indicate that the person should consult a specialist in sleep medicine for further evaluation. A self test is available at the the author's website.Another tool is the Multiple Sleep Latency Test (MSLT), which has been used since the 1970s. It is used to measure the time it takes from the start of a daytime nap period to the first signs of sleep, called sleep latency. The test is based on the idea that the sleepier people are, the faster they will fall asleep.
    ackerman 3 Replies
    • February 25, 2010
    • 05:37 AM
    • 0
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    ackerman 3 Replies
    • February 25, 2010
    • 05:40 AM
    • 0
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  • Before Feb of this year my 7 year old daughter was a very active energetic child. She was in gymnastics and was so energetic that it was difficult to get her to go to sleep at night. In mid Feb 2008 (Mardi Gras day) she became very lethargic. She started taking naps during the day as well as sleeping all night (10 – 12 hrs a night). We weren’t alarmed by this but thought she may just be tired. Within a few days she went from taking cat naps to extreme exhaustion. She slept 12 hrs at night, slept on the way to school in the morning, slept during school, slept on the way home, and slept in the evening. Basically she could barely stay awake. We took her to the hospital at around day 5 of the sickness when her teacher had to catch her from falling as she looked like she was passing out. The hospital ran a bunch of blood tests and an MRI and everything came back fine except for a positive ana result and her thyroid levels were a little low (not alarmingly low). They couldn’t find anything significantly wrong with her so they sent us home. We thought maybe she had a virus but she didn’t have a fever throughout this entire sickness. She has no rashes of any kind but had achy knee pain for the past year in one knee. After a couple weeks past we started to notice her having problems walking and talking (the exhaustion still remained). She would have to hold on to us while walking and had a real shaky voice when talking. This problem was sporadic. One day she would walk/talk find and the other would be shaky. Whenever she laughs she falls down. When she laughs she looks drunk. I ask her how she feels when she gets shaky and she says it feels like she has to sneeze. We then took her to the hospital again. This time we stayed in the hospital for a week. They had every type of doctor run all kinds of tests as well as a spinal tap. Every test came back fine with the exception of a positive ana and a slightly low thyroid level. The Rheumatologist ruled out lupus and the neurologist only came up with a theory of cerebral ataxia. We took her to another doctor who ran tests for strep and found extremely high levels of DNase B which showed that she had strep at one time. It’s been 5 months now and she is not getting better. However, she is not getting worse. It’s been the same sporadic walking/talking episodes and the extreme exhaustion continues. The infectious disease doctor ruled out west nile of various types, cat scratch fever… and has her on a 3 month plan of penicillin. We are really worried! She has had more blood work done than I can list here. It all comes back normal. I want to find out what’s wrong so I can get my daughter back to normal. She is not herself anymore. She has gained 12 pounds and is completely inactive because of this sickness. She has also become very angry and still has problems walking/talking. However she still has normal brain function. She can do reading and math just as well as before the sickness. Please help!Recently my nine year old started having similar symptoms nausea all the time, not eating,no co-ordination, dizzy all the time can not walk on her own seems drunk and she can not focus, her speech was affected to the point she recognized that she was not talking right.She had H1N1 for eight weeks that went undiagnosed about six months ago. The symptoms showed up gradually over the last month until now she acts almost like she has amental disability. After her recent visit to the hospital and MRI etc we have found she hasacute cerebellar ataxia and the this was caused from inflamation in the cellebrum and is usually follows an infection with symptoms starting about three to four weeks after theinfection. These symptoms can last up to three months and there is nothing I can do tohelp her. As the inflamation goes down she will progressively get better on her own howeveronly sitting and watching and patients is the only thing that can be done and this can go on for three months. MRI and CT will not show this so yes all blood tests and everything else will be normal we were just lucky our doctor did not let it go and found out what it wasafter lots of research and consultation of other doctors. Please talk to your doctor about this possibility you will sleep easier at night at least knowing what is wrong and although its tough to watch you will at least know it will get better. I hope this was helpful.
    Anonymous 42789 Replies Flag this Response
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