submucous-cleft

submucous-cleft

BY Wendy Hughes
Do you hate visiting a new hospital consultant, GP or the dentist? I certainly do, but I expect for a very different reason to those reading this article.

cataract

cataract

I have a little recognised genetic disorder called Stickler Syndrome, and the immediate response when I say this is, ‘Oh you mean Sickle Cell Anaemia?’ No, that is a condition that affects mainly Afro Caribbean’s! ‘Never heard of it,’ is the usually the next statement, which allows me to launch into a rundown of the condition that, although not life threatening, has a variety of symptoms that affects me every single day of my life and prompted me to set up the Stickler Syndrome Support Group
(http://stickler.org.uk) when I was diagnosed 27 years ago.

degenerating-hip-in-a-28-year-old-male

degenerating-hip-in-a-28-year-old-male

Although I was born with the condition and my mother went totally blind when I was 7, I was not diagnosed until I was 40.My life certainly began at 40, because I had grown up feeling very inadequate, I considered myself to be lazy, thick and stupid, couldn’t see or hear properly and lived with constant with joint pain. I became tired very easily and some days could not comprehend the simplest of instructions making me feel very much a second rate citizen.

flat-features-that-improve-with-age

flat-features-that-improve-with-age

I can well remember the day when I was about 8-years-old, and sitting on my bed and coming to a decision, in a very matter of fact way, that I was not like other kids, I simply couldn’t keep up with them physically or academically and concluded that from then on I would do best at everything. Diagnosis was the golden key to my life puzzle and for the first time I realised I was not lazy, thick or stupid, there were reasons for my problems that were beyond my control.

giant-retinal-tear

giant-retinal-tear

So what is Stickler Syndrome? In a nutshell it is a group of genetically inherited conditions that affects the collagen in a person’s body, and it is not gender specific. Collagen is the connective tissue that acts like glue or binding, some acts like scaffolding and some to allow the elastic stretching and tightening of muscles. It is found in the white of the eye, the cornea and the vitreous gel (the jelly) at the back of the eye. Due to its wide range of symptoms it can be extremely difficult to diagnose. It cannot be cured, but with the right treatments and advice, it is possible to live within the limitations of the condition, and enjoy life, as I have proved.

high-arched-palate

high-arched-palate

The condition affects around 1 in 7,500 new born babies, and if one parent has the condition there is a 50% chance of any children having the condition. However there are some recorded cases where it has occurred for the first time, and this is known as a spontaneous mutation, but then that child has a 50% chance of passing it on to their children. I have two children and feel extremely lucky because they have not inherited my faulty gene. Other families it has affected several children in three generations, so you can image the emotional baggage that does with that.
When I was diagnosed the average age of diagnosis was 32, now thanks to raising awareness within the medical profession, especially with post graduate medical students and paediatricians most babies born with the condition are diagnosed at birth, giving them the opportunity to the correct therapies from an early age.
Thanks to incredible research being carried at Addenbrookes hospital in Cambridge,
who now has a dedicated Stickler Diagnostic clinic, a sort of one-stop shop where
patients see an ophthalmologist, audiologist and a rheumatologist on the same day.

hyper-mobile-joints

hyper-mobile-joints

All the symptoms have been clinically or radiologically identified in patients who have
been diagnosed with Stickler syndrome, and nine different collagen genes are known
to cause Stickler syndrome and work is on-going to learn more about how each one
effects the individual Little wonder if is difficult to diagnose..

hypermobile-joints

hypermobile-joints

In the eyes, Stickler syndrome causes short-sightedness, an abnormal appearance
of the vitreous gel, a high risk of repeated retinal detachments (tearing of the lining of
the eye), cataracts at a young age and these tend to be wedge or comma shaped
and glaucoma. Early diagnosis is essential to help prevent loss of vision. I have had
numerous operations for retinal detachments, laser treatment to repair holes in the
retina, also the vitreous gel and cataracts have been removed and I have glaucoma.
I can only see shadows with my left eye, but thankfully, although not brilliant, I have
enough vision in my right eye to enable me to get about and can still read, and am
extremely grateful to my surgeon for preserving what vision I have.

images

images

The facial features are quite distinctive, and include a full cleft, submucous or high
arched palate and/or bifid uvula. Micrognathia -where the lower jaw is shorter than
the other resulting in poor contact between the chewing surfaces of the upper and
lower teeth. A flat face with a small nose or no nasal bridge, but appearance tends
to improve, especially by the time the child starts school. I have a submucous cleft
which means the two halves of the cleft did not join, but the lining over the roof of the
mouth is intact. I also have a bifid uvula, which means the ‘dangly’ bit at the back of
the throat is split, and apart from a rather nasal voice no would know.

research-at-cambridge

research-at-cambridge

The joints are hyper-mobile (over-flexible) or stiff and early joint disease leads to
osteoarthritis and joint replacements at a much younger age than in the general
population. My joints were very flexible as a child, but since about 8 they became
stiffer and stiffer and I have had to adapt my life. I had a total right knee replacement
in 2003, followed by the left in 2007 and had a total hip replacement in October
2015.

stickler-syndrome-uk

stickler-syndrome-uk

There is also a hearing loss and the degree varies from person to person and
becomes more severe with age. Children also suffer from glue ear called by the
palate abnormalities. As a child I had continual ear infections, which affected by
hearing and I had by first hearing aid at the 24. Today I have two digital hearing
aids, which are brilliant. The day I received them and dashed into the house from
the garden and told my husband there were birds singing in the garden, he said they
have always been there!
Other symptoms include curvature of the spine and/or stenosis where the spine
narrows, causing pain and discomfort and numbness. I was diagnosed with stenosis
on the spine in 2009 which means the narrowed space within the spine is pushing on
the nerve root and was offered an operation where tiny ‘windows’ would be made in
the spine to allow the nerve to breathe. This I refused and am now learning of live
with discomfort, especially when walking. Most people with the condition also
complain of chronic fatigue, which is hardly surprising when you consider that one
third of the body is made up of connective tissue. Chronic fatigue is the bane of my
life, because it can hit at anytime without warning and has ruined many a day out
because I can’t do what I want to do. Visits to friends have often left me needed to
rest when I arrive
So that is the condition in a nut shell. Next week I will tell you how it affects my
everyday life.

About Wendy Hughes

Wendy turned to writing, in 1989, when ill-health and poor vision forced her into early medical retirement. Since then she has published 26 nonfiction books, and over 2000 articles. Her work has appeared in magazines as diverse as The Lady, Funeral Service Journal, On the Road, 3rd Stone, Celtic Connections, Best of British, and Guiding magazine. She has a column in an America/Welsh newspaper for ex-pats on old traditions and customs in Wales. Her books include many on her native Wales, Anglesey Past and Present, The Story of Brecknock, Brecon, a pictorial History of the Town, Carmarthen, a History and Celebration and Tales of Old Glamorgan, and a book on Walton on Thames in the Images of England series, a company history and two books on the charity Hope Romania. She has also co-authored two story/activity books for children. Her latest books are: Haunted Worthing published in October 2010, a new colour edition of The Story of Pembrokeshire published in March 2011, and Shipwrecks of Sussex in June 2011 and Not a Guide to Worthing in 2014. She is working on a book entitled A-Z of Curious Sussex which will be published in 2016 Wendy also works with clients to bring their work up to publishable standard and is currently working on an autobiography with a lady that was married to a very famous 1940’s travel writer. Wendy has spent many years campaigning and writing on behalf of people affected by Stickler Syndrome, a progressive genetic connective tissue disorder from which she herself suffers. She founded the Stickler Syndrome Support Group and raises awareness of the condition amongst the medical profession, and produces the group’s literature, and has written the only book on the condition, Stickler The Elusive Syndrome, and has also contributed to a DVD on the condition, Stickler syndrome: Learning the Facts. She has also writing three novels, Sanctimonious Sin, a three generation saga set in Wales at the turn of the century, Power That Heal set in the Neolithic period entitled Powers that Heal, and a semi biographical book entitled New Beginnings which deals with two generations coping with blindness and a genetic condition. She has also had a handful of short stories published, and in her spare time is working on several at the moment. She also gives talks on a variety of subjects including Writing and Placing Articles, Writing Local History, Writing as Therapy, Writing your first novel, etc, and runs workshops on the craft of writing – both fiction and non-fiction. She is a member of the Society of Women Writers and Journalists, and a member of the Society of Authors.