IT HAPPENED TO ME: My Child’s Rare Genetic Disorder Was Masking Her Much More Common Genetic Disorder

She couldn’t walk or do anything other than lie in my arms. She was so thin that she was cold all the time, even in the middle of the summer.
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She couldn’t walk or do anything other than lie in my arms. She was so thin that she was cold all the time, even in the middle of the summer.

My daughter Sophia was a healthy baby -- a healthy delivery, a good feeder, a relatively good sleeper. 

But by the time she was about a year old she started to lag behind her peers and to demonstrate floppy muscles. At a time when other babies began to walk, she could not crawl or even wriggle about. About the same time, she developed what looked like a few small brown birth marks on her legs. This seemed odd to me as a birth mark is, after all, what you are born with, not something that comes in toddlerhood.

I spoke to a physiotherapist about her floppiness and Sophia was referred to an excellent developmental pediatrician who examined her thoroughly. He was very concerned about her puny, almost wasted legs and low muscle tone, but was unable to determine the cause. At the very end of the appointment I mentioned the birth marks –- which seemed to me to be very much a side issue -- and he was on the case like a bloodhound on a scent. He whisked off Sophia’s nappy and counted and measured her marks. 

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It turned out that they are café au lait spots, the classic sign of neurofibromatosis. My daughter has neurofibromatosis type 1 –- we call it NF1 when we talk to her. 

This is a genetic disorder which affects 1 in 3,000 people, characterised by the growth of benign tumours called neurofibromas. These tumours can grow anywhere in the body where there are nerve cells. This includes nerves just under the surface of the skin, as well as nerves deeper within the body, spinal cord, and/or brain. 

It often manifests so mildly that people are unaware they have it -- they have only one or two small café au lait spots. At the other end of the spectrum, it can mean an increased likelihood of tumours, including brain tumours, tumours in the eyes, causing vision loss or blindness, unsightly and potentially disabling growths. That disfigured guy the Pope embraced -– he had profound NF1. 

It’s impossible to tell how severe Sophia's NF1 will be as it will develop continually over her life, especially in puberty. She might get nothing beyond the muscle weakness she already has, her current small stature and a few pin-head sized lumps on her trunks. She might get lots more. There is no cure for this -– only watchfulness to see which, if any, of the potential symptoms she might manifest.

Anyway, we are lucky enough to live in a country with free, universal health care and an emphasis on childhood prevention, so she has physiotherapy and OT to help her develop strength, a developmental pediatrician to make sure she is on track for her milestones, orthotics to help her stand, a neurologist, and a childhood ophthalmologist. But despite all this, Sophia continued to fail to thrive. 

With the aid of orthotics and a lot of physiotherapy, she got up on her feet at 22 months and could walk. What a happy day! Then at 24 months, I noticed an increasing hesitancy. By 26 months, she would not walk at all. She started vomiting, at first once every few days, then daily, then many times each day. 

At first I thought it was a virus, but a vomiting bug lasts days, not weeks. I kept taking her to the doctor, and the doctor kept saying she would recover soon. I kept taking her to the hospital and, likewise, they kept sending us back home. In the end I got my GP to write a note saying that in his opinion she did not have a virus and that the hospital needed to examine her properly. On my request, his note highlighted the possibility of a tumour in her brain causing the vomiting. 

When we finally got a thorough examination in the hospital. They were focused on the NF1. She had previously had an MRI –- which is a big procedure when you are only one-and-a-half years old -– but this time she had a CAT scan. The poor little girl was in such a state of exhaustion from the vomiting that she just lay there without struggling, so at least it was easy for them to do the procedure.

We waited in the ER for a long time after the results came back. I could see the papers on the desk and I was preparing myself for the worst. I assumed that a young intern was fetching someone senior to give me bad news. Handing over good news is left to the juniors, and done relatively quickly.

But, no, the CAT scan was clear! I was so pleased that I left the hospital without taking in the fact that we were no closer to a diagnosis. But when I got home I realised they hadn’t actually given us any course of treatment, and something definitely had to be done. 

At the hospital, they had taken a heap of blood, because they were obviously reaching around for all the possibilities. One of the things they mentioned was celiac disease. Although no results had come back, I decided to try eliminating gluten. Something had to change -– Sophia had lost 7 percent of her already meager weight. She was no longer on the WHO charts for height and weight. She couldn’t walk or do anything other than lie in my arms. She was so thin that she was cold all the time, even in the middle of a western Australian summer. Her hair was falling out in huge clumps.

And, like a miracle, it worked. She only threw up one time after I began taking wheat, rye, barley and oats out of her diet. Seriously, the turn-around was like those scenes in "House" where he glances at a patient in a decade-long coma, gives them some calcium, and they bounce out of bed. She stopped vomiting; she ate voraciously; she started walking again; she became a cheeky, chatty two-year-old. 

She was already improving when the hospital rang to give us her blood test results. An antibody level over 10 is considered indicative of celiac disease. Her levels were 301. Belatedly, the hospital suggested a gluten-free diet. Too late! By then she was already scarfing down gluten-free food with the ferocity of a child who had not been properly fed for months on end. She ate virtually the whole time she was awake. She was on the road to recovery.

Apparently 1 in 100 people have celiac disease, an auto-immune response to gluten in the diet. It’s an incredibly common disorder. Sophia’s has been confirmed with a gene test -– the pediatric gastroenterologist agreed she did not need a biopsy as her response to the gluten-free diet was so clear, her gene test was positive and her antibody levels prior to the diet changes were so high.

Celiac disease is also a disease which is entirely unrelated to NF1. There is no correlation. Her pediatrician said Sophia was the only child he had ever met who had both. The odds of having both are 1 in 300,000. 

The celiac disease might well have been picked up earlier had some of the symptoms not been identical to symptoms of NF1. The shortness, the failure to thrive -– these are classic signs of celiac disease but we all thought they were caused by the NF1. Even her difficulties in walking stemmed at least in part from the lassitude caused by being chronically malnourished. 

It turned out that my child’s relatively uncommon genetic disorder was masking her incredibly common genetic disorder. 

Sophia is now doing incredibly well, but the pediatrician has ordered more tests…for the possibility of x-chromosome-linked hypophosphatemia. The odds of having that particular genetic disorder -– 1 in 20,000.