Living & Coping with Stickler Syndrome
By Wendy Hughes
Last week I told you a little about the grossly under-diagnosed genetic condition Stickler syndrome and how it has affected me. This week I would like to tell you about living and coping with the disorder, which isn’t easy because it includes an assortment of problems – visual impairment, hearing loss, mobility problems, as well as speech difficulties, chronic fatigue and the burden of trying to live a normal life in a world that is clearly geared for the fittest and strongest.
It is a condition that I or anyone else who has it can never forget. It not only affects the individual, but also others members of the family as they learn to adapt and cope with the person who has the condition. I am a very positive person who keeps as active as possible within my limitations, but it is hard sometimes for me to get on with my life. One of the biggest difficulties is not being able to drive, which means I have to rely on public transport or on friends and family to get me to unfamiliar places. Then there are many hospital appointments to deal with, often in different hospitals, and consultants who it would appear are incapable of communicating with each other, leaving the patient to explain the various aspects of the condition. For example last week I attended Addenbrooke’s hospital at Cambridge, not easy when you live on the south coast. This was followed by a hydrotherapy appointment locally as well as an audiology appointment, and next week I start a course of physiotherapy. This takes up a lot of my time and my husband’s who has to drive me there, wait for the treatment to finish, and take me back home. Then there is a variety of operations and recovery time to deal which can be very stressful. Since 1988 I have had 25 operations and countless procedures and when you add this to the routine check-ups, various medications to take, particularly to alleviate pain, physiotherapy and exercise for painful joints, you will some idea of the lost quality time this takes up.
My story begins in south Wales in 1948 when I was born. My mother was 46 and my father 51. Being their first and only child, I was much loved, but was always ‘sickly,’ and my mother found it extremely difficult to feed me. I would take up to four hours to take a feed with more milk coming out of my mouth than being taken in, and by the time one feed was finished another was due. She made endless visits to her GP and the problem was put down to my inability to suck, or I was just plain lazy! In sheer frustration she cut a cross in the teat and squeezed the milk into my mouth drop by drop, and at the age of 14, it was discovered I was born with a submucous cleft palate. This has never been repaired, and the only obvious signs are a rather nasal voice, and a difficulty in pronouncing certain words.
For as long as I can remember, I ached all over and my progress was slow. I missed the crawling stage and would shuffle around a room on my bottom. One day I discovered that by holding onto the settee I could pull myself up, and from that day I walked but my mother noticed that I walked on the sides of my feet and my ankles looked odd. I was unsteady on my feet and would lose balance easily, until I found that by using my arms as balances and walking like a penguin I could accomplish a great deal. I virtually had my own language, which my parents found endearing. Dr Jones, would come out as something like, ‘Duck, duck jaws’ and I forgot became ‘I intergot.’ My rag doll Jenny became ‘Any.’ Worried, my mother took me to various consultants, but was told her she was fussing over nothing, and being born small therefore she could expect problems. Others claimed that I was a self-willed little girl and listened only to the things that interested me. I was an attention-seeker, a devious manipulator, claimed one. Finally my mother was told that being ageing parents they could expect a sickly child and to go home and enjoy what they had produced!
From the day I started school I encountered problems, and two months after starting school my father died suddenly. I was forever having ear infections, caused in part by the palate problems. My joints would swell up making running and walking difficult. Cold and damp weather affected me and my frequent absence through illness eventually took a toll on my progress at school. Some teachers were understanding and explained a missed lesson during their breaks, but most were unhelpful, thinking I wasn’t interested in learning. The more I tried to keep up, the more difficult it became because I had a sight and hearing loss, and even when I sat in the front row in the class, I still had difficulty seeing the blackboard. I couldn’t run like my peers, I misheard or misunderstood messages, and came to the conclusion that I was thick and stupid
My mother had never been a well person, but like many women of her generation, she accepted her lot and got on with life, but when I was seven, she suffered severe sight problems, and spent almost a year in and out of hospital, and I was fostered be several families. After five failed operations for retinal detachments she was taken to Moorfields Eye Hospital in London, but returned home totally blind. The detachments put down to the trauma of my father’s sudden death
From the day my mother returned home my life changed. At the age of 8 shopping, letter writing and all the seeing things of running a household come under my charge. Her blindness had a profound effect on me. I refused to switch on lights when it became dark, as I tried to imagine a world of total blackness and felt guilty that I could see, and my mother couldn’t.
After a spasmodic education I started work and although everything was still an effort I coped by learning new ways of overcoming old obstacles. I met my husband, Conrad, and we married three years later. He accepted, encouraged and supported me in everything I tried to do. For the first time life was good, there was no need to go on pretending or to keep up with anyone.
Our two sons were born within the first four years of our marriage. Conrad was a new age modern man before the term was invented. We shared the household chores and our sons’ upbringing. We did everything together, and this has continued over the years. He has the ability to anticipate a bad day and will often do something without me even having to ask. Over the years we have had to change our lifestyle and I have had the support needed to adjust.
In 1980 we moved from Wales to Surrey, and over the next 5-6 years I became increasingly more tired and suffered from bouts of inflamed, stiff and sore joints. My hearing was deteriorating; I would miss bits of sentences, and noticed my vision was deteriorating too as parts of words appeared to be missing or blurred.
I reached a low point at the end of 1985 suffering a viral infection, which left me very arthritic. My GP referred me to a series of consultants, but no one could pinpoint what was wrong. By now Conrad had taken over most of the household chores. My self-esteem had hit an all time low. I turned to writing as an outlet for my frustrations, and one day whilst writing I noticed like black rain descending before me, accompanied by flashes of bright lights crossing my field of vision. I scolded myself for doing too much and decided I would have an early night. The next morning my vision was worse and I could see like a black curtain over about a quarter of my vision, the rest clouded in a grey haze.
I rang my GP and was told to come to the surgery and he arranged an appointment with an ophthalmologist that morning. I soon discovered that I had suffered bilateral retinal detachments and would be operated on immediately. The operation went well and after a week I was sent home, but seven days later the retina in the left eye detached again. I was rushed back into hospital and was being prepared for another operation when a young medical student came to see me. After a thorough examination I told they were cancelling my operation and transferring me into the care of a vitreoretinal surgeon at Moorfields Eye Hospital in London where I was. At last diagnosed as having Stickler syndrome and, although I did not fully understand the implications I was elated. At last there was a reason for my problems. Incidentally, my mother was also diagnosed, at the age of 85, after being blind for 35 years.
Over the years my health has continued to have its ups and downs and we have had to change our expectations of life to correspond with what I can or cannot do. To sum up living with Stickler syndrome is annoying, frustrating and downright hard on times, BUT to me the gift of life is the most precious asset we have, so I enjoy it to the full by making the most of what I have. I have joint pain almost continually, admittedly sometimes it is low grade pain, other times it is relentless pain but nevertheless it is there day in day out, gnawing away, sapping energy and the ability to live a normal life. Immobility is hard for me to accept, especially when I have to change plans or turn down events I would love to attend. Failing sight is a constant worry, and I need to have my hearing aids continually adjusted as hearing is lost.
But I do have one huge asset, writing! I didn’t set out to become a writer, writing found me one dark day and I began to write, why me, and discovered the joy of writing, and is now my therapy, as is helping others people with the condition by running the Stickler syndrome UK (http://stickler.org.uk) and by publishing the only book on the condition: Stickler: The Elusive syndrome (https://www.amazon.co.uk/Stickler-Syndrome-Wendy-L-Hughes/dp/0952662515/ref=sr_1_1?s=books&ie=UTF8&qid=1474023664&sr=1-1&keywords=Stickler+The+Elusive+syndrome
I still feel under-educated, but can now accept that it is through no fault on my own. As my ophthalmic surgeon once said to me, ‘you have been educated in the University Of Life and it is not what you have, but how you use what you have that matters.’ Within my limitations I do far more than some of my able-bodied friends, and on the whole I remain cheerful and positive, but most of all I enjoy being part of life and communicating through the written word. Since 1992 I have had over 2000 articles published and 27 books published and am working on a commission at the moment. Without my diagnosis I would not have founded the SSSG, found a deep understanding and friendship among fellow sufferers or obtained a second career in writing. My personal mission statement is to live each day as it comes, learn to appreciate the simple things in life. The world is your oyster – make the most of life.