by Anniel 7/6/15
Reporting From the Trenches • I want to write about several new biological and medical findings that may impact the life and health of every person on earth. In order to do so I will have to fill in some background on our youngest daughter, Cate, and the rare disease(s) she suffers from.
Because my family had been beset by Graves Disease, a mostly thyroid condition, I kept an eye open for any symptoms of thyroid problems in our children. The four older ones seemed fine.
Cate, was a shocking surprise, not born until I was nearly 46 years old. She was very bright, and very funny, so it never seemed as though there was anything to worry about. She never complained about anything that I can remember. Apparently she thought it was normal to get out of bed and fall down; to laugh and lose all use of her muscles; to have headaches all the time; to have backaches, and even, sometimes, to walk into walls.
She was what we called “double-jointed,” while no one else in the family was. One day when she was about three and had taught herself to read, I saw her sitting on the floor leaning back against the couch while she was engrossed in a book. I was shocked to see her foot reach up while she scratched her nose with her big toe. I wondered if I had just missed something and had forgotten how limber children are.
She did have what is known as “Nursemaids Elbow,” which was new to me. If she pulled away while her hand was being held, her elbow would pop out of joint and we would take her to the ER to have it popped back in. Sometimes that even meant returning home early from fishing. People say you can learn to pop the elbow back in yourself, but we never learned how.
In grade school she grew fast and was taller than most of the other kids. She also began having problems after eating and developed severe Gastric
Reflux Disease. When she was in second or third grade she fell from some parallel bars onto her back and was in pain for a few days, but said nothing to us. She developed severe TMJ and her jaw was completely worn out when she was very young.
She also had gastric reflux disease, which became so bad we took her to a pediatric gastroenterologist. He found she already had Erosive Esophogitis and sent her to have hiatal hernia repair when she was just 14 years old
Cate skipped sixth grade, went to the two years of middle school and started high school. Two of her older siblings had left high school and started college early, and by 9th grade it became obvious that this girl needed to do the same thing. She had a really bad English teacher who made her life miserable. One day the teacher gave an assignment to bring in an example of a literary allusion. Cate chose a few lines from Robert Frost’s poem STARS:
And yet with neither love nor hate,
Those stars like some snow-white
Minerva’s snow-white marble eyes
Without the gift of sight.
The teacher gently told Cate that there was no literary allusion there, that snow-white wasn’t a person but was used as an adjective. When Cate said that the allusion was to Minerva, the teacher got angry and said she could certainly have chosen an allusion that would be understood.
Cate had no respect for the teacher at all, so when she told us of this latest indignity, we laughed, then sighed, pulled Cate out of high school and let her get her GED. This was a good move because of what followed.
We did not learn for several years that Gastric Reflux Disease is often the first sign of autoimmunity, so we thought Cate was fine following her surgery.
When she was 15 she went on a canoe trip in the Alaska wilderness with a young women’s group. She had been in her room with a bad headache for two days before the trip so I didn’t see her. The Monday morning she left I had gone swimming early and her father took her to the staging area. When I got home he said she still had a headache and had decided not to use her contact lenses and just use her glasses. Before the trip I had noticed she had lost some weight and that she was not doing running for an on-line college course she was taking. Just prior to the canoe trip I reminded her to get busy doing her running. She didn’t say much, but after she left on the trip her brother told me she was afraid to run because her pulse rate would go really high and not come down for several hours. Immediately I knew she had thyroid problems and needed to be seen as soon as possible.
On the first day of the trip Cate’s headache became more violent and she suddenly went what she called “white blind” in one eye. At noon they turned the canoes upside down so she crawled under a canoe to get out of the rain and laid in the mud while everyone else ate. She paddled all afternoon, and as soon as they stopped for the night some of her friends got her into dry clothes and a sleeping bag because she was cold and shaking so badly. Again she did not eat.
In the middle of the night she woke up with sweat pouring from all over her body. Her heart was pounding and her head felt like it would burst. She knew she was dying and wished she could tell us she loved us. Then she passed out. She awoke the next morning still very ill and freezing cold from having been so wet from the profuse sweating.
The next four days were hell for her but only the girls in her tent paid any attention. The adult chaperones on the trip were negligent and totally uncaring when Cate tried to tell them what was happening to her and not one of them called us even though they had plenty of cellphones.
On Saturday when she got home she went straight to the shower and then to bed because she still had a headache.
I did not see her for two more days. When she finally came upstairs I saw my father’s thyroid eyes in her face and knew she had had a thyroid storm and needed help right away. The funny thing was my husband and son did not see anything wrong with her eyes, even though I could show them the signs of disease.
Her pediatrician said she needed an adult Internist and made the arrangements. The Internist seemed odd, but we didn’t know where else to go. He sent us on to the “best” neurologist in town, and we began an incredibly strange journey.
The neurologist met with us and decided to do a lumbar puncture (LP), also called a spinal tap, on our daughter. I was freaked out because of all the things I had heard about LP’s. The neurologist assured me that it was a very “benign” test and they could learn a lot from it. Arrangements were made for the LP to be the following week.
MORE TO FOLLOW In Episode 2. • (684 views)