Mayo Moments

Monday, 11 July 2011

Leah's Story - Part 1

Leah was born on June 10, 2004.  She was very healthy, with the only concern being a slightly "loose" left hip.  We were assured this would firm up on its own.  She was and has always been a very healthy, cheerful, loving, friendly, happy-go-lucky, energetic little girl.  She has four brothers and two sisters, none of whom display any of the issues she is experiencing.

From the time she began walking, Leah would fall.  And I don't mean she would stumble, or trip over a toy, or lazily drag her toes, she would just a limp noodle.  She wouldn't throw out her arms to break her fall, or anything, she would just collapse.  It would happen so quickly and so randomly it was hard to actually *see* what was happening.  She would immediately leap back up and shout out a quick "I'm OK" and go back to what ever it was she was doing.  It happened so frequently it became a bit of a family joke.  "There goes Leah, tripping over dust again."  or  "Leah has inherited the K gene...K for klutz."

We began to take it a little bit more seriously when her teacher called to discuss the amount of falling she was doing during the school day.  We took her to see the pediatrician, he checked her out, ordered xrays for her hips (to see if the old hip issue was the problem) and blood work.  Other than the bloodwork, everything came back fine.  Her CK levels were elevated - this indicates that she has elevated muscle enzymes in her blood. explains it very well here

Over the next two years, we would return to the doctor to have her bloodwork rechecked.  Her CK level would fluctuate but remained high, as well, occasionally her thyroid levels were high.  The doctor continued to explain it away as a virus that lodged in her muscles that was taking a long time to clear up.  We had her assessed at the Niagara Peninsula Children's Centre by a Physiotherapist, Occupation Therapist, a student Doctor and a Speech Therapist.  The only findings was that she is hypermobile in the knees and ankles.  The conclusion, while the hypermobility maybe contributing to her falling, it was not the main issue and the team felt there were underlying issues causing it.

Finally, June 16, 2011, after yet another set of abnormal blood work, her doctor agreed to send her to a muscle specialist McMaster Children's Hospital.  He promised to complete the referral and send it off as soon as possible.

I had no sooner walked through the front door and called my husband to update him, than the school called.  Leah had collapsed outside on the soccer field.

I grabbed my cellphone and called the Doctor's office on my way out the door.  They agreed to see her right away.  I raced to the school, my heart racing.

I was met at the front door by the secretary and brought to the staff room, Leah was lying on the couch in the fetal position, with ice packs on her neck and ankles.  There were three teachers with her and everyone was very concerned.  Her eyes were flat looking, and she would only respond non-verbally, she couldn't hold herself up in a sitting position and I had to carry her to the car.

From what I can piece together from the students, her brother and the teachers, no one saw her go down, they don't know if she felt sick before hand, don't know if she shook (had a seizure), don't know if she hit her head on the grass or for sure how long she was out for.  All we know is that there was enough time for a student to get her brother's attention and for him to reach her and try to pick her up.  She was limp in his arms and not responsive to his voice.  Teachers were alerted and came at a run.  Leah remembers waking up and seeing her brother Connor looking down at her.  Connor states her eyes were fluttering and even though it was hot outside she wasn't sweating.  He also said she did talk a little bit but wasn't making sense.

We went directly to the Doctor's office, on the car ride over, she was still having trouble holding her head up, she was able to sip some Gatorade but still was not talking.  It took her over an hour to begin speaking again and over two hours to begin walking again.

She was admitted to the hospital for three days.  While she was there she received an EKG, a CT Scan and a variety of bloodwork.  Everything came back as fine except for the bloodwork which as usual had elevated CK levels - but lower than they had been the week  before.  Occasionally, her blood pressure registered as very high, but when it was taken again, it would be normal.  As well, even though I found the room to be quite warm and stuffy, she was continually cold.

She was discharged on June 18th, with no real answers but with a appointment for an EEG on July 21st.


  1. Has your daughter been tested for sticky blood, or clotting disorders? I'm not a medical person but have a hereditary clotting disorder myself, and through my experience and research I know there are some sticky blood disorders that cause problems with vision, gastrointestinal, MS like symptoms, etc.. Clotting disorders quite often go undiagnosed or are misdiagnosed, especially if there is no associated clotting episode. I wish you and your daughter the best.

    1. I hope my friend leah gets good soon to!good thig she dident colapse in the talent show with me!:)

  2. You must be worried and exhausted. I really hope you are able to find some answers.
    I've had families get the best results when they go to the ER at Sick Kid's. If you haven't done that it would be my recommendation to take her there. Be prepared to wait for hours.

  3. You mentioned that her thyroid levels were high...has anybody looked into hypothyroidism? A number of her symptoms are similar to hypothyroidism. I understand the enormous cost involved but have you considered an appointment with a neurologist in the US? I doubt you would have to wait 2 years! My thoughts are with you.

  4. The irritable bowel combined with joint pain and periods of 'wilting' and neurological symptoms sound a lot like my own experience with Lupus. If you're doing all that blood work anyway, may as well have her checked for ANA and alti-RO antibodies. It took almost 20 years to get my diagnosis. Good luck to you. There's nothing more difficult for a parent than to have a sick child and not know how to help.

  5. Another thought, there is a clotting disorder called Antiphospholipid Syndrome (APS) - "primary" or Antiphospholipid (APS) - "secondary" (coexists in conjunction with systemic lupus erythematosus). The symptoms your daughter displays are very similar to APS. Best wishes.

  6. I suffer from Cataplexy different from catalepsy. It is a symptom of narcolepsy but can be found on its own.

    Wiki: "Cataplexy is a sudden and transient episode of loss of muscle tone, often triggered by emotions. It is a rare disease (prevalence of fewer than 5 per 10,000 in the community), but affects roughly 70% of people who have narcolepsy.[2] Cataplexy can also be present as a side effect of SSRI Discontinuation Syndrome."

    I have very small daily attacks where just my eyes droop, and my jaw stops working as I try to fight it off. Sometimes something like very bad news will trigger a prolonged attack where I am basically paralyzed and unable to communicate. These could last up to 30 min but rarely more than 5. Triggered by emotional reactions like elation, anger, anticipation, and surprise the attacks are difficult anticipate and diagnose.
    Cataplexy is usually associated with narcolepsy which is manifests it self at puberty and catapexy is almost unheard of with out it. It is also a brain disorder so only neurologists would even think to look at this.

    Wiki:"Cataplexy manifests itself as muscular weakness which may range from a barely perceptible slackening of the facial muscles to the dropping of the jaw or head, weakness at the knees, or a total collapse. Usually the speech is slurred, vision is impaired (double vision, inability to focus), but hearing and awareness remain normal. These attacks are triggered by strong emotions such as exhilaration, anger, fear, surprise, orgasm, awe, embarrassment, and laughter. A person's efforts to stave off cataplectic attacks by avoiding these emotions may greatly diminish their quality of life, and they may become severely restricted emotionally if diagnosis and treatment is not begun as soon as possible.[3]

    Cataplexy may be partial or complete, affecting a range of muscle groups, from those controlling facial features to (less commonly) those controlling the entire body.[4]

    Arm weakness
    Sagging jaw
    Drooping head
    Slumping of the shoulders
    Slurred speech
    Generalized weakness
    Knee buckling

    When cataplexy happens often, or cataplexy attacks make patients fall or drop things, it can have serious effects on normal activities. It can cause accidents and be embarrassing when it happens at work or with friends."

    There are a variety of treatments depending on the severity. I take a small dose of prozac every day and that seem to prevent most of the little attacks.

    Good luck with your search.
    Remember to try and get 2 or 3 opinions and see a neurologists.

  7. I'm sure you will already have explored this, but I have M.E. and a number of Leah's symptoms are ringing bells for me :) I really hope you find some answers soon!