Recently a fellow Trailblazer Laura Bizzey wrote a poignant open letter on her diagnosis, so I thought I should enlighten you on my diagnosis journey. However, before that I wanted to provide a summary of the problems my family has faced regarding diagnosis: Misdiagnosis, acceptance, divorce, lack of family support & cultural issues. I have Duchenne Muscular Dystrophy (DMD), which is further complicated by Haemophilia a genetic blood clotting disease.
Growing up I was always slow to reach critical milestones as a child so I was crawling around a lot longer than usual. When I began to walk, I prone to constantly falling on my toys and always having bruises and internal joint / muscle bleeds in any part of my body. Initially, we thought these bruises were obviously symptoms of Haemophilia but after happening over numerous occasions the Haemophilia consultant Dr Mitchell suggested the falling may be due to muscular problems so aged 3 ½ I was referred to a neuromuscular consultant.
The neuromuscular consultant we were referred to was Dr Andrew Holton, the beginning of my 6-year misdiagnosis. So a muscle biopsy was done showing elevated CK (Creatine Kinase) levels that are connected to muscle breakdown or weakness seen in Muscular Dystrophy (MD). However, my diagnosis was interpreted as Polymyositis a chronic inflammation of the muscles. The regime prescribed was high doses of steroids and intensive physiotherapy to gradually strengthen muscles and prevent tightened tendons as I walked on tiptoes. This exercise meant that I was not given a wheelchair as I was told to walk. We were following Dr Holton’s expertise as a neuromuscular consultant, at this time we never knew life would turn out completely differently. Now that I can look back as an adult, as a child I never realized how hard it was for my Mum & sister because I never really understood what was happening to me at the time.
Age 4 I was started on 15mg of steroids (5 mg tablets) to combat the ‘inflammation’ in my muscles. Each outpatient appointment there was no sign of improvement so the dose was increased. He increased it to 35mg when I was about 5 due to no improvements occurring, adversely I began to experience the side effects of steroids such as weight gain, anger and facial, arms and back hair growth so I was very distraught. I began to be teased at school due to my increasing hair growth, I felt ashamed of my ‘problem’ as I was being called a monkey.
As the steroid regime was not showing any improvements Mum requested for a second opinion from a doctor in Nottingham who backed doctor Holton’s diagnosis and treatments however later on we found out they happened to be friends. After the second opinion Doctor Holton suggested we try an intravenous infusion of immunoglobulin (IVIGs) as a new treatment alongside steroids. At age 5 I did not understand why I had to have this medical intervention, it meant that I was away from school twice a week for 4 hours or more. I hated having to go to Ward 27a in Leicester Royal Infirmary even though the nurses and play specialist were really helpful at making me forget being a patient. We slowly started to get a lack of information on the reasons for steroid dosage or IVIGs from Doctor Holton.
During these medical appointments and phone calls Dr Holton was starting to be quite rude to my Mum. For example, my Mum told him ‘Vivek is not improving, he has stopped walking…’ I was unable to climb the stairs at school (I had to be carried around), carry my bag or change into my trunks for swimming but he dismissed it by telling my Mum she should come into school to help me. I was starting to feel tired or in pain to walk everywhere. Holton turned around to his registrar ‘hospitalize him under my care for 2 weeks’ I was crying as I did not want to stay in hospital with an angry doctor,
Even the physiotherapist was questioning my diagnosis suggesting I could have some form of Muscular Dystrophy but that idea was rejected. MD boys walk on tiptoes and when standing up from the ground us the method of climbing up our legs, I exhibited these actions throughout my diagnosis. The nurses at Ward 27a supported and encouraged my Mum to complain about his behaviour as he was horrible to other patients and nurses.
His façade crumbled when Mum completely refused to give me any more steroids when he increased the steroids to 45mg (more than the adult dosage) when I was about 7 years old. He was on holiday when Mum rang so the receptionist took a message he was angry and said to my Mum ‘Don’t you realise your son is very sick, if you were a good mother you would carry on with steroids’
A lot more happened after this outburst but cut to age 8 ½, we managed to get a third opinion from the Hammersmith hospital in London. I was scared to meet the new doctor as I thought he would shout too. I met Professor Muntoni, he was very friendly and talked to me like a person, he actually listened to my Mum and me, and he restored my faith in doctors. I was asked to stand up off the floor and walk, we were then asked to wait outside and then he said he is sure 80% I had some form of MD. This took about 20 minutes. It was devastating hearing the news about the future but we were glad to finally know what was wrong with me. I was now able to get a wheelchair, stop the unnecessary treatments and have plaster castes to stretch my tendons in my calves that were tightened by me walking on tiptoes. The physiotherapists and the whole team in London were excellent.
We did receive an informal letter of apology from Doctor Holton so we had evidence that he accepted some fault but his excuse was that he was under qualified and ‘spread thinly’ as he put it. After a few years we saw a story about his suspension on the news, he had misdiagnosed hundreds of patient’s who suffered from epilepsy and unnecessarily medicating them. Mum found the courage to file for a medical negligence case, It was discovered through us that Dr Holton misdiagnosed / mistreated muscular dystrophy patients too. He made us feel worthless and making a fuss but now we had the chance to finally be heard. It took us a further 10 years to receive compensation for our traumas.
The start of my diagnosis seems hopeless but the problems have made me the man I am today. I do admit that it has been difficult to accept my disease or my future but accepting it has been the best thing for me to have ever done to accept myself 100% by bringing together my fragmented past. I could put myself my feelings, thoughts and my body together again. I now see it is a positive attribute, as without it I would never be writing this blog or meeting my friends at Muscular Dystrophy UK.