Our story starts with a whole lot of waiting. I have never claimed to be a patient person, and when it came to my daughter Grace’s declining health, I was anything but patient in finding a diagnosis.
Complicating matters was the fact that we were about to move with the U.S. Navy from Connecticut to our next duty station in Florida. Because we were leaving, my daughter’s neurologist was unable to dig deeply. He ordered genetic testing to look for gene mutations suggesting limb-girdle muscular dystrophy, then sent us home. Because my husband and I adopted our daughter and have no family history, the doctor assumed it was muscular dystrophy and the genetic testing would prove his theory.
Months passed, and Grace’s health declined. Upon arriving at our new location, we began the search for a neurologist. After three failed attempts, we finally got a referral to our current doctor who was, at the time, four hours away in another part of Florida. We were told it would be a six-month wait to see him. After multiple calls, they got us an appointment in three weeks’ time.
In the meantime, the genetic testing came back without any indication of muscular dystrophy. At our first appointment with the new neurologist, he dismissed the results and assumed Grace had a gene mutation for limb-girdle that had not yet been identified. He told us to go home, get her a wheelchair, and return in six months.
I was shellshocked. She and I walked out of the office in a daze. No treatment? No plan of action? No firm diagnosis? I knew in my heart it was not limb-girdle because of her varying and rapidly developing symptoms, so I pushed to have her seen again just two weeks later.
I believe what happened next was nothing short of miraculous. The doctor walked into the room and said he could not stop thinking about Grace. He agreed her case just wasn’t adding up. He was committed to digging deeper, testing, and researching until he could find the correct diagnosis.
Finally, I felt like he heard my cries to help my daughter. This was the turning point we needed in our quest for a diagnosis.
Waiting for a diagnosis is not easy. It felt like our house was falling down around us and I was helpless to hold it together. But without the waiting, we would not have learned some very valuable lessons.
Some I learned organically, while others were pointed out to me by weary travelers along the same path. The following is what I learned.
We know our children best. We know (almost) every symptom and change in behavior, every nuance and affected ability. We are our children’s biggest advocates.
Do not underestimate your ability to help the doctor see what you see.
Persist in the search. I know this is easier for some than others due to family commitments and careers, but I learned to push for what I knew my daughter needed. It took a ton of time and effort, but the payoff is well worth it.
Control my emotions. I had plenty of days when I ugly cried in the privacy of my own car or closet, but I did my very best not to do this in front of Grace.
Do not be afraid to ask for help. Family and friends want to help; they just don’t know what that looks like for your family.
Talk openly with your children, as much as is appropriate.
Don’t take no for an answer (but do so gently and with respect).
Waiting for a diagnosis has by far been the hardest part of the journey of loving someone with a rare disease. It brought me to my knees on a daily basis, and if it hadn’t been for the friends and family surrounding us, it very well may have broken me.
Take hold of the glimmer of sunshine you see today. Tomorrow, that hope may be a full-blown sunrise.
Note: Lambert-Eaton News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Lambert-Eaton News or its parent company, BioNews, and are intended to spark discussion about issues pertaining to Lambert-Eaton myasthenia.
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