Losing my daughter to Myasthenia Gravis vs (comorbid?) Mitochondrial Disease
Hello Dear Folks,
I sit here scouring the internet for information that might help me to save my 9 year old daughter. I am home for the night after 26 days in hospital with my Emma.
My hope is that one of you will have information to help us.
We took Em to the Hospital for Sick Children in Toronto on Hallowe'en for rapid inspirations (gasping, air hunger) and increasing muscle weakness. Em has always fatigued easily but since September, she has felt like there are magnets drawing her limbs to the ground. She is brighter in the mornings and very weak by evening.
In Emergency, the consulting docs suggested Myasthenia Gravis or Guillan Barre Syndrome (comorbid?). Em has no lower reflexes but has not experienced ascending paralysis as in GBS. Em was given a dose of Mestinon (pyriostigmine) in the ER.
Admitted to the neurology dept, the testing began. No one could be sure if the Mestinon was working. Her pattern of bright in the morning, tired in the evening continued. Ptosis was more and more of a problem. IVIG was performed on day 3 and 4 with no obvious benefit noted.
On day 5, Emma didn't restore...she awoke tired after a night of obstructive sleeping and frequent desaturations. Her spirometry was 34, her ptosis didn't allow her eyes to open at all and she desaturated into the low 80's and her co2 was 84. Emma was moved to the ICU where a femeral line was inserted and plasmapheresis started. Docs started Prednisone 30 mg bid and Mestinon was increased to 30mg q 6 hrs. She was restrained to start bi-pap therapy to aid in blowing off her co2. Plasma exchange was done 5 times over a week. Emma was a new girl. By the second exchange, she had renewed strength, her eyes were open, she was funny, animated and interestingly, her Aspergers' Syndrome characteristics were GONE. She connected well with us and was more engaged than I've ever known her.
We graduated back to the Neurology unit on day 12. Emma's carnitine level test came back, low - level carnitine started. Lumbar puncture revealed elevated lactate in CSF. MRI (finally done!) revealed spots in the basal ganglia suggesting inflammation or possible mitochondrial effect. Mestinon increased again to include 90 mg slow release for nighttime.
Emma's weakness worsened. Bi-pap support all night with 2 hr breaks during the day. Spirometry results varying, co2 level no longer a problem. Low potassium resolved with one off supplements. Blood pressure and heart rate increase causing concern. PRN neFEDopine started and soon being used q 4 hrs.
OG tube insertion last weekend after bout of Norwalk Virus sent her into a tailspin. Breathing issues resurfaced when her tummy bloated and forced lung capacity to diminish further causing a great deal of pain especially on bi-pap.
Today, Emma's breathing is erratic with frequent desaturatons, she cannot open her eyes (we hold them open for her to communicate with docs, family), she has blood in her urine, Amlodopine added for blood pressure control. She cannot bear her weight and is confined to bed in a diaper.
Em has a muscle biopsy scheduled for Monday, the day after tomorrow. We've been fighting to have it done without general anaethetic as we've been warned that if she is intubated she may lose her ion drive and have to stay on a ventilator. We are not ready to never hear her voice again.
In a meeting yesterday the docs said that they think she has mitochondrial disorder comorbid with myasthenia gravis. There are no documented of this comorbidity although myasthenic effect has been seen.
We want plasmapheris again. How often can rounds of plasmapheresis be done? I was told today that she can't have it again until after the muscle biopsy because of the heparin needed for the plasma exchange.
Any advice, insight, resources would be appreciated.
Thanks so much for reading,