The Day a Neurologist Changed Our Lives Forever

It will be ok in the end. If it is not ok it’s not the end.

I have always been a worrier so I was not surprised that I found being pregnant quite stressful. I discovered that I was pregnant the day after a Saturday spent drinking lots of Sangria, sitting out in the sun, so the early weeks were spent agonising over whether I had placed my unborn baby in danger. Having managed to obsess over pretty much every aspect of being pregnant, I finally managed to relax and enjoy my pregnancy a bit more as I entered my third trimester. But all the way along my pregnancy, I had the same niggling feeling that something might not be completely ok with the precious life growing inside me. When I mentioned any feelings of anxiety to friends or family I was kindly reassured that I was just worrying, the same way that I always did about everything and that everything would be ok.

Only, it wasn’t.

George and I shortly after George was bornAfter a difficult labour, which saw me unsuccessfully induced at 42 weeks culminating in an emergency caesarean, my husband, Charlie and I finally got to meet our beautiful son, George. There are lots of aspects of the labour and birth that I can’t remember, they seem to have vanished in a haze of exhaustion, painkillers and anaesthetics but something I distinctly recall is asking my husband ‘is he alright?’ as little George, minutes old was examined by the medical staff. He was perfect; a large baby at 9Ib 1, with lots of hair and a lovely healthy glow. After a couple of days in the hospital recovering from my surgery, Charlie, George and I returned home to our little flat in north London.

I remember the early days with a strange sadness and I still find it painful to look back at photographs taken during those first few weeks as I see myself, Charlie and our families full of joy and happiness completely unaware of what was to come. In retrospect, I knew fairly quickly that something wasn’t quite right with George. Initially, it was that he wasn’t maintaining his birth weight and slowly but surely began slipping down the centiles. Health visitors smiled and reassured me that it was nothing to worry about, he was a big baby and very overdue, he would begin to put on more weight the more I fed him. Then, I began to notice the peculiar position his head would assume when he was lying down and the difficulty he seemed to have moving his head to one side. Again, I was waved away by a carousel of Health Visitors, my concerns swatted away with flippant dismissal. But, rather than subside, my concerns snowballed as I noticed more and more things that I felt were a worry. George seemed to be slow meeting some of his physical milestones, he was floppier that other babies the same age and he still had a ‘head lag’ far beyond the stage that he should have done. I could not stop thinking about the fact that my lovely little boy was not developing as he should be. The lack of sleep and repeated reassurances from the medical professionals, Charlie, family and friends began to make me question whether I was imagining things of if there was something more. After months of going back to the drop in clinic with concerns I met a health visitor who looked at George’s head position and neck movements and said she would make a referral to a physiotherapist. Following a consultation, it was confirmed that I was correct to be concerned, the psychotherapist diagnosed totocolis, a shortening of the neck muscles on one side. I had a programme of stretches and exercises to do with George to strengthen and stretch his neck muscles in the hope it would improve his range of movements. I felt a burning sense of vindication that my worries were well founded and it spurred me on to have the confidence to address the other anxieties I had about his development. I began to push our GP for a referral to a paediatrician and, when we were reluctantly seen, I was cross examined about how much I was feeding George. The consultation ended with the doctor asking me why I was trying ‘to find things wrong’ with my son before we were shown the door. The doctor had barely even looked at my son.

Weeks went by and I knew that something was not right. George was late to meet all of his milestones and his weight on the centiles had plummeted from the 91st centile at birth to below the 2nd. The paediatricians were unable to tell me anything that I didn’t know and I saw no way out of the cycle of constant worry. It was at this point that my husband and I bought a house in Brockley, a move closer to my parents and nearer to Charlie’s work. The move proved to be the beginning the journey towards answers.

Following new referrals and a series of doctors, we were finally seen my another paediatrician at Lewisham Hospital. I told her everything that had happened from the moment George was born up to the present day whilst she took copious notes. She examined George and agreed with me that his muscle tone was poor, he was floppy and late to meet all his physical milestones to date. I felt relief that she could see what I had seen for months but also anger that I had been dismissed so many times. She informed me that she wanted George to see a neurologist and that she was try to get me in to see someone from the Evelina Children’s hospital in her next outreach clinic in Lewisham.

The day we attended the outreach neurology clinic our lives changed forever. Looking back on it I was naive to think that going along on my own was a good idea. I hadn’t stopped to think about why the paediatrician in the first appointment had decided that we needed to see a neurologist, what that might mean or what sort of news might be coming our way. The day of the appointment, I pushed George in his buggy from our house, across the park and to the hospital. We met the neurologist and she asked if I was happy for a student to be present for the consultation. I have no memory of the student. I don’t remember the room or what the doctor asked me. What I remember was the look on her face when she examined George. He eyes widening as she watched him desperately trying to roll over at aged 10 months. Her glances back at me as we waited for him to try to get himself into a sitting position from being flat on his back, something he still is unable to do aged nearly 4. As I got George dressed I looked over at her writing in his notes. She then told me that George almost certainly had some form of Myopathy, a neuromuscular disorder. She had no other details as there would need to be a raft of further appointments and tests and that we were to be seen at the Evelina Children’s Hospital. As she spoke, I felt myself drawn more and more to her face. I felt as though our faces were only inches apart, yet, I must have been seated on the other side of the desk. Her eyes were large, glassy and sympathetic. It was as if I was lying at the bottom of a bath holding my breath, looking up at the ceiling. I remember thinking that she looked sad. When she finished talking I didn’t say anything, I got out of my seat and pushed the buggy out of the room, I felt as though I was floating along the corridor. As I pressed the button for the lift to take me back to meet our paediatrician the burning in the back of my throat told me that things were going to be hard.

It was at this stage that I decided with certainty that I knew what George’s difficulties were due to. When I was a child, two of my cousins on my father’s side of the family came to live with us from Iran. Both girls were suffering from a condition that had caused their painfully thin bodies to warp and bend. The girls arrived in the country terribly unwell and I have memories of watching their emaciated bodies struggling to summon the energy to breathe. Muscular Dystrophy, we were told, was the cause of the difficulties. At the time, in the early 1990s there was little more information about the specific types other than for those suffering from the most commonly identified types of the condition. My parents were told by specialists that the girls had a much rarer type, not seen in this country with its genetic origin most likely to be found in the Middle East. The fact that their parents were first cousins from the same small village was pointed at as the most likely reason for the girls’ condition. As a child myself, I became very familiar with the condition; the way that it presented physically, the difficulties my cousins had and the red flags we needed to watch out for. One of the most prominent symptoms of the condition appeared to be a weakness in the neck flexor muscles which lead to a head lag that was never grown out of and poor head control. This is exactly what I saw when I looked at George. It was something that I mentioned to in excess of 20 medical professionals in the year and months leading up to his diagnosis. I knew what I saw in him were the same symptoms. I was told repeatedly by family, friends and doctors it could not be the same condition. My husband and I were not related, we came from different parts of the country and there was no history of it in Charlie’s families. Despite the reassurances I knew with certainty that I was right.

Prior to seeing the specialist neurologist at the Evelina for further investigation I spent an obsessive amount of time researching various forms of Muscular Dystrophy on the internet. I knew that it was not the most common forms, Duchene, Becker or Limb Girdle. The presentation and inheritance pattern was not in keeping with my cousins or George. Then, one evening, I found an article in a medical journal detailing Rigid Spine Muscular Dystrophy in a family in the rural Midwest of America. It described how all four siblings, 3 boys and a girl were affected. The description of the symptoms fitted exactly with George but it wasn’t until I saw the accompanying photographs I knew that I had found the condition. The children were stood in their underwear in cold clinical shots that demonstrated the effect the condition had on their body. The tiny, thin frames and warped bodies jumped out at me with alarming similarity. They were exactly the same as my cousins’. I immediately emailed the journal to the neurologist and explained this was what I felt George had. When we finally met, she told me with certainty that George had some form of muscle condition but in the absence of any genetic investigation she could not confirm which type. She explained that when my cousins were diagnosed, the present advances in genetics had not been achieved and so it would not have been possible to pinpoint the specific type of condition they had. We needed to prepare ourselves for the fact that George had a genetic condition, inherited from my husband and I, that we may never be able to pinpoint. This would mean no official diagnosis, no named condition and no way of preventing any future children being affected.

I had to give up my successful teaching career to stay at home with George so we were able to attend the copious number of appointments for what seemed like a never ending line of different professionals. Paediatricians, neurologists, physiotherapists, speech and language therapists, cardiologists, dieticians, the list went on. Staying at home did not suit me and I began to slip into a grey abyss. If we didn’t have an appointment, I found it hard to summon the energy to wash and dress. I hated taking George to playgroups and avoided any opportunities for him to play alongside his peers, finding it painful to see him struggle to do the things that came so easily to others. I loved George but the worry and grief I felt was all consuming. The split second after I woke in the morning, before the reality of everything came flooding back to me, was the only respite I felt I had. Eventually with the support of family and friends I began to emerge from under the cloud. I saw George for what he was, an amazing little boy, fiercely intelligent, funny and loving. I began to contemplate going back to work as his appointments became more controllable and I reconciled myself to the fact that we may never receive an official diagnosis for George.

George, my father and I (6 months pregnant with Arlo) on my wedding day.jpgThen, one day a few months before George’s second birthday, I was thrown a huge curve ball. I had got much better at getting myself and George up and out everyday and we were on our way to a toddler film showing in Greenwich. Sat on the bus, I felt nauseous and for a moment thought I was going to be sick. This was unusual, until it dawned on me that I couldn’t remember the last time I had my period. Part of accepting that we may never pinpoint the specific genetic mutation we had passed on to George was also to accept that it would be unlikely we would have any more children. I could not risk having another child with the same needs as I wasn’t confident I would be able to care for two children in that way. I felt it would not be fair on either. As I sat on the bus to the cinema I had a horrible feeling that things were not going to go as planned. As we got off the bus, I rushed into Boots and purchased a pregnancy test. It confirmed what I feared. I was pregnant. I went home hysterical and sat with George not knowing what to do next.

I went to see our GP who was sympathetic but could not help me. I talked to my mum and Charlie about our options. They were limited. We could continue with the pregnancy and wait and see if the new baby was also affected, which was a distinct possibility. Or we could decide not to continue with the pregnancy. It was at this point that I received a telephone call from the neurologist at the Evelina Hospital. After months of investigations she had made a major breakthrough. She had found my cousins’ original notes from the 1990s and looked at the information, the scans and the samples taken. She compared them with George’s notes and concluded that I was correct: George, and my cousins all had a condition called Rigid Spine Muscular Dystrophy. She explained that the condition is as a result of a specific genetic mutation that is now identifiable via a simple blood test. The advances meant that whilst the technology was not in place to offer a specific diagnosis to my cousins in the 90s we would be able to confirm things for George via some very simple tests. She also informed me that this also meant that prenatal diagnosis would be possible if my husband and I were planning any more children. I informed her that I was unexpectedly pregnant and was very concerned about what we were going to do. In our previous appointments I found her to be at times cold and detached. However, when I explained to her that we were not planning more children but that we now found ourselves in a difficult position she was extremely sensitive. She said that she would contact her colleagues at the genetics centre in Guys and we would be seen as a priority the following week. In the meantime, I needed to be seen for an emergency booking appointment to determine how many weeks pregnant I was. She went on to explain that I could undergo a CVS at approximately 12 weeks to determine if the baby was going to be affected.

The scan indicated that I was only in the very early weeks of pregnancy and had about another 3 weeks before a CVS could be performed. In the meantime, George, Charlie and myself went to the genetics appointment and had our bloods taken for genetic testing. The genetics counsellor was lovely, warm and friendly she listened carefully. She plotted out family trees and noted my cousins who were affected. She explained that Charlie and I were both likely to be carriers of a mutated gene and that we had both passed this on the George. This mean that the condition was defined as autosomal recessive so any children we had would have a one in four chance of inheriting the condition, a one in four chance of being completely free of the mutated gene and a 2 in four chance of being a carrier. We talked about the CVS and she said she would book me in for my 12th week. If the procedure indicated the baby would be affected, we then would have support to make a decision about whether we wanted to continue with the pregnancy or not. I remember her squeezing my hand before we left and telling me I could call her any time.

George’s second birthday came and it was hard conceal from most of our family and friends that I was pregnant. We decided not to tell everyone as we were not sure what would happen with the CVS and I felt physically and emotionally exhausted from trying to digest it all without the added pressure of answering lots of questions. Then the call came from the geneticist, Charlie and I both had mutations on the SEPN1 gene detected and George’s results indicated that he had inherited both. He was officially diagnosed with Rigid Spine Muscular Dystrophy.

I felt a heavy sense of grief wash over me. Everything I had known, everything I had worried about was finally confirmed. I felt a sense of mourning for the child I dreamed of having so heavy I thought it would crush me. I had fantasies of going back to the professionals that had seen us in the early days and declaring them all wrong. I struggled to keep a lid of my emotions and in the days leading up to the CVS my mood swung from fury to devastation until the day of the procedure arrived.

I went to St Thomas’ with one of my Aunts as Charlie was under pressure from work not to take any more time off. We dropped George off at my mum’s and headed up to the hospital. In the waiting room there were lots of other women, all waiting for either CVS or amniocentesis procedures. I looked around the room at all their different expressions, fear, uncertainty, irritation and wondered what my face looked like.

When we were finally seen the doctors asked if we would consent to students observing the procedure as it was something slightly more unusual than an amniocentesis. I said it was fine and lay back on the bed counting the ceiling tiles. The doctor explained what was going to happen. Firstly, I was going to be given an injection in my stomach to numb the area and then a long thin needle would be passed through into my womb and cells from the placenta would be taken as a sample to be tested. She explained the risk of bleeding and miscarriage and I signed the consent forms. The CVS was fine, I only felt a peculiar pressure, no pain or discomfort. My Aunt held my hand and said I became very hot, which I was unaware of as I felt ok. It was strange that the whole thing seemed to be over so quickly. We went to pick up George and I tried to busy myself to pass the time. We had been told that it would typically take about three weeks for the result to come back. We waited.

In actual fact, it didn’t take nearly as long as that. About a week and a half later we got the news that our new baby was a carrier of the SEPN1 mutation. As a carrier, he or she would have the same genetic profile as my husband and I and therefore would be unaffected. This meant that we were not forced to make a decision about whether to continue with the pregnancy. My husband and I had talked it over almost constantly during that week and a half, what we would do in the event that the baby had inherited both mutated genes. It was not an easy discussion and I knew that it would mean some incredibly difficult decisions. It was for this reason that we had decided not to share the news of my pregnancy with everyone until we were confident we knew what was going to happen. I felt sad that we were not able to share the information with Charlie’s parents. They had found it difficult to understand everything with George’s diagnosis and I knew they would not be supportive if we chose not to continue with the pregnancy.

I did feel very alone. Outside of Charlie and some very close family and friends, there was nobody else I could talk about it with. I didn’t know anyone who had been through the same thing and I had no points of reference. I always believed in the importance the women should be able to choose what they wanted for their bodies, but contemplating the possibility of terminating my pregnancy made me feel sick. In the end we were incredibly lucky that things turned out the way they did. Following the news from the geneticists we went ahead and told the rest of our family that we were expecting baby number two.

Arlo and I shortly after Arlo was born.jpgBaby Arlo was born in November, another big boy. George came to the hospital to see him and declared proudly ‘that’s my little brother’ as he caught a glimpse of us for the first time. Arlo was a very different baby to George, loud and angrier with a fierce cry. The early days were tough with two little ones as I recovered from another caesarean. Despite all this, I felt that I coped with all the emotions and hormones well and I even returned to work. George is a brilliant older brother and now Arlo is just over two years old we have spent this precious time watching the boys grow together and develop into friends.

Life is still often hard for George and we don’t know exactly what the future will bring. It is likely that George may require a wheelchair as he grows and a certainty that he will need a ventilator at night. Apart from that I am not sure what will happen. He hasn’t decided whether he is going to be a superhero or a scientist when he grows up.

What I do know now is that despite everything we have been through we are incredibly lucky to have two such special boys in our lives. Whilst I am deeply grateful to all the support and kindness shown to me my friends, family and colleagues perhaps one of the most memorable things anyone said to me was a parent at the Evelina. Seeing me in tears following one of George’s early appointments she stroked my arm and said ‘I don’t know what the situation is but you need to believe that it will be ok in the end. If it is not ok, it’s not the end.’

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Ellena is an advisory teacher living in Brockley with her husband Charlie and their two sons, Arlo and George. George was diagnosed with Rigid Spine Muscular Dystrophy just before his second birthday.

1 COMMENT

  1. Absolutely beautiful article. Thank you so much for sharing. You’re an amazing mum – can’t believe you diagnosed your son before all the professionals did! Mother’s instincts are amazing. Hug both your boys tight – they’re lucky to have you as their mother.

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