JESSICA’S STORY
Our daughter Jessica was born September 2000. She was our third child. At the time we had two older children Jonathan who was 7 and Charlotte who was 3. Jessica always appeared to be a very healthy little girl, and for her first year, we had no concerns about her whatsoever. However, when she was one, the health visitor commented during a home visit that Jessica should be sitting up alone, which she was unable to. Her concerns about Jessica grew, when at her 18 month check, Jessica was not meeting the developmental targets she should of been. She seemed to be delayed in very many areas and would not walk independently until the age of 22 months.
With Jessica on holiday in Devon
We agreed that we would leave things for another 6 months, and if at the age of 2 Jessica was still showing signs for concern, a referral would be made to a paediatrician. During those 6 months I took her to 2 different GP's as her walking seemed "strange", as if she really had to concentrate on what she was doing, and she fell continually. Both GP's felt it was nothing to be overly concerned about and one suggested she may be a little flat footed. At that point a referral was made to a paediatrician, as was agreed 6 months earlier, as her over all development was still markedly delayed.
Upon seeing the paediatrician he carried out an examination and also routine blood and urine tests. One of the blood tests showed an abnormality and further blood tests were done. Again, an abnormal result. When we went back, we were told Jessica had a high CK level. He explained what CK was and why it could be in Jessicas bloodstream at such high levels. He also told us that Jessica could possibly have MD and referred us to a neurologist, stating that she may want to do a muscle biopsy.
When we saw the neurologist, she did further blood tests. Firstly to check Jessicas CK level again and secondly to check if Jessica was a carrier for "the male type of muscular dystrophy", as she said. We got a letter to say that yet again, Jessica's CK levels were in the thousands and that she had tested negative for carrier of 'male type of muscular dystrophy'. We both felt that Jessica could not possibly have muscular dystrophy. We had been on the internet and first, discovered there were many, many different types of MD and secondly, that all the ones that affected females did not fit Jessica. We bypassed the Duchenne sites, because they stated that it only affected boys!! We strongly believed throughout the whole 18 months it took to have a definate diagnosis, that there was nothing seriously wrong with Jessica.
When we went to see Kate Bushby, (Newcastle Muscle Centre) she examined Jessica and did further blood tests. She also, as you would expect, asked many questions, which surprisingly, we found ourselves answering no to a lot of them. Can Jessica hop, can she run, can she jump? No to all three! How does Jessica go up the stairs... slowly, holding the bannister! Could we lay her on the floor... we did not realise it at the time, but Jessica could not get up off the floor without holding onto something! Looking back now, with the benefit of hindsight, we wonder how we could NOT have known! She had even fallen a couple of months previously and broken her leg and it had taken such a long time for her to walk again after the plaster came off.
Kate felt the best way forward was to do a muscle biopsy, which was carried out under general anaesthetic as a day patient. Jessica was hysterical throughout, and had to be carried kicking and screaming, fully clothed into the operating theatre. We felt that we couldn't feel any worse, and wondered if we had done the right thing by agreeing to the biopsy. We still had major doubts that there could be anything seriously wrong and felt terrible guilt for having put Jessica through this ordeal.
In December last year, 18 months after Jessica had been initially referred to the paediatrician we went to Newcastle Muscle Centre to get the results of the biopsy. We were completely unprepared for what we were about to be told. In fact, we viewed getting the results as the end of it, that we could return to normal life at last. We had moved yet again the day before, and we were so busy making sure our older 2 children enjoyed their first day at their new school and unpacking, that Jessica's results were pushed to the back of our minds. We cannot begin to describe the shock, horror and disbelief we felt when we got the results. Every parent reading this will understand. The tears, the rage, the despair, life feels as if it will never be the same. We found ourselves unable to relate to family and friends anymore and withdrew. They did not know what to say or do to help, so they in turn withdrew. We felt alone and isolated.
Today, things are better! Life does go on! It's been a turbulent time, with lots of lows and few highs. Have we accepted Jessicas diagnosis? We don't know, but what we would say is that we are learning to LIVE with it. Somehow, we are slowly able to return to things we did "before".
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