I've recently been helping a new rare disease organisation get off the ground. Elijah's Hope was already helping families who have children with disabilities in the South West of England. However its founder, Kaddy Thomas, also wanted to help other people with the rare craniofacial condition, Apert syndrome, that both she and her son, Elijah, for whom the non-profit is named, live with.
Kaddy's also involved in launching the country's first Postural Care Conference, being held this April as she knows how important it is for people with physical disabilities to maintain optimum posture to help them live as long and comfortably as possible.
Kaddy is one of the most positive people I've ever met with a hugely infectious laugh. At the moment though, she's spending much of her time in hospital with Elijah who's been unwell since late last year. But she has shared her story for us and I think you will agree that Kaddy is a pretty amazing woman.
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Living with Apert Syndrome
My name is Kaddy Thomas. I run Elijah’s Hope CIC, a non-profit organisation for families in the South West of England facing the challenges of raising a child with the rare disease, Apert syndrome. I’m a busy mum to my eight-year-old son, Elijah. Both Elijah and I were born with Apert, although our two experiences of living with this rare congenital condition couldn’t be to more different extremes.
What is Apert Syndrome?
Seattle Children’s Hospital gives this definition of Apert Syndrome as: “A complex condition caused by premature fusion, or early closure, of one or more of the sutures (specialized joints between skull bones that expand during normal brain growth) that separate the bony plates of the skull."
Apert syndrome means that the upper two-thirds of the face do not grow normally, causing an abnormal appearance, dental problems (an abnormal bite) and maybe other problems, such as sleep apnoea. It also affects the growth of the limbs with the fingers and toes fusing together before birth, something called complex syndactyly of the hands and feet.
Most children with Apert Syndrome have delayed developmental milestones, though this varies from child to child. It requires highly specialised treatment by a team of craniofacial, medical and surgical subspecialists.
How has Apert Syndrome affected my life and Elijah’s? Well, this is our story.
I was born in 1968, at a time when people didn’t really know what Apert Syndrome was. My mother was just 22 when I was born and was shocked to be told that as well as having a physically disabled child - as my hands and feet were fused and my skull noticeably misshapen - I would no doubt be “severely mentally retarded”. That was how they talked at the time.
A year later, feeling unable to cope with this diagnosis and the prospect of watching me undergo many surgeries, my mother decided to place me in care. I spent the next two years in a hospital for ‘the mentally handicapped’ and then six years living in a residential home for children with severe learning difficulties.
Finally, at the age of six or seven years old, a matron at this home realised that I had been misdiagnosed and that Apert Syndrome had not resulted in any learning or developmental difficulties – far from it, in fact! At the age of nine, I was eventually released into the mainstream care system, with the hope that I would one day be adopted.
Childhood surgery
My childhood included a lot of operations. Between the age of six- and twelve-months, while still with my mother, I underwent my first surgery to separate my thumb and forefinger to give me that all-important pincer grip.
I later had surgeries to separate my toes and all the fingers on one hand but I found the surgery and recovery so traumatic, I eventually refused to have any operations on my second hand. Because of the way the skull forms when you have Apert Syndrome, it can make your eyes protrude. To help correct this, I had laser surgery to build up the structure of my cheeks and to reshape my forehead.
To be honest, I haven’t found living with Apert Syndrome too difficult. My health is generally good, although having Apert does affect my hearing and nasal airways. I had to have T-tubes inserted into my ears to keep the middle ear aerated and stop it filling up with fluid.
People stare at me sometimes but I just stare right back. Children ask me questions and that’s fine, I’m happy to answer them. Having Apert syndrome has never held me back but maybe that’s because I am used to fighting for the things that matter to me.
Learning about Apert Syndrome
My understanding and knowledge concerning Apert syndrome is something that I’ve accumulated during my adult life. I really grew up not knowing what Apert was, although my medical care was better when it was transferred to Great Ormond Street during my teens. The problem was that as soon as I hit adulthood, the medical support I received ended. No-one ever really sat me down and discussed with me how having Apert Syndrome might affect me in the future. All I knew is that as a bone condition, I might be more susceptible to other bone-ageing conditions in my later adult years.
It was during my early 20s that I really began asking questions about Apert Syndrome, particularly whether it was something I could pass on to any future child I might have. I was offered genetic testing and discovered that I carry the Apert gene; the doctors counselled that I had a 50/50 chance of having a child with Apert Syndrome. But I have managed so I thought there would be no reason my child, if he had Apert wouldn't either, especially with a mother who completely understood the challenges.
Which brings me to Elijah.
Having a child with Apert Syndrome
I found out I was pregnant on Friday 5th August 2005. I remember it clearly – I was overjoyed. I knew that the baby might have Apert syndrome and agreed to some initial tests to see if that was the case but I refused an amniocentesis as I didn’t want to risk what was already the very much loved and wanted life growing inside of me. I was able to have a 4D scan through Birmingham Women’s Hospital, which immediately showed us that the baby – my boy, as I’d always known he would be – had Apert. It was helpful to know, simply because I could prepare mentally and practically for some of the initial health challenges Elijah might face.
Elijah was born on Friday 24th March 2006, two weeks early and weighing a healthy 8lb 10ozs. He had a cleft of the soft palate, heart murmur, fused hands and feet, and a misshapen skull, all of which are common symptoms of Apert Syndrome, but he was otherwise in good health.
It was a strange time for me as a new mum. There was a sense that no-one quite knew what to do with us, and Elijah and I were moved around from ward to ward. I think that, because I have Apert syndrome, the medical staff around us assumed that I knew what support and surgical interventions Elijah might need. Yes, I had my own experiences to draw on but, as I’d spent so much of my childhood without knowing much about Apert, it was uncharted territory for me.
When Elijah was one week old, I noticed that his breathing would change while feeding. When he was put on an Oximeter, it became clear that his saturations were dropping. He was rushed to the Neo Natal Unit for immediate attention and it transpired that he had reflux.
Shortly after Elijah was born, we were referred to Birmingham Children’s Hospital’s Craniofacial team as Elijah was facing lots of respiratory challenges. In hindsight, I think he’s always had slightly weaker lungs.
In September 2006, he had surgery to separate his thumb and forefinger. It was amazing to see how quickly he adapted and the things he was able to pick up and play with. In his first year, he also needed surgery to correct his twisted intestines.
A devastating complication
It was in November 2006 that an MRI showed that Elijah would need surgery on his skull. In May 2007, his skull was cut open from ear-to-ear and bone distractors were fitted, which, over time, would gradually expand Elijah’s skull to essentially make room for his growing brain. The surgery was very successful but it was after the surgery that problems began.
Whenever someone’s body is opened up during surgery, they face a greater risk of infection. Unfortunately, the site of the right pin of Elijah’s bone distractors became infected. This began a chain of complications and events, which led to Elijah developing a severe brain injury at the age of 18 months. In October 2007, he went from being able to sit up, talk and play independently – a fun loving boy who loved music and food – to non-stop seizures, Intensive Care and being in a semi-coma state. It was every mother’s worst nightmare.
Elijah ended up spending the next 10 months at Birmingham Children’s Hospital. The first three months were horrendous; I was on an emotional rollercoaster with so many unanswered questions, trying to come to terms with what had happened. Over time, Elijah’s health stabilised somewhat and he emerged happy, placid and content but no longer able to move or respond in the way he had before.
Looking to the future
On 30th December 2007, I made a conscious decision that I would find the good out of the bad and my mission would be to help Elijah, to explore what would benefit him and make it happen.
We spent the next year at the Children’s Trust in Tadworth undergoing rehabilitation before moving to North Somerset in 2009. I became involved with the North Somerset Parents’ Forum for a while and then set up a parents’ luncheon club in Weston-Super-Mare in 2011. Although I couldn’t self-fund it long-term, I began to understand how I wanted to help other people.
In 2013, we spent several months living between Frenchay and Bristol Children’s Hospital when Elijah developed a Clostridium Difficile infection – a type of bacterial infection that can affect the digestive system. He later developed a chest infection and at one point was admitted to intensive care.
Fortunately, Elijah rallied round, his usual happy and content self; never failing to amaze and inspire me with his ability to bounce back no matter what is thrown at him.
Elijah now
Of course, Elijah’s health is still unpredictable - contact with a common cold or sickness bug can send his temperature soaring. Elijah is no longer ‘just’ living with Apert Syndrome; he has epilepsy, respiratory challenges, scoliosis and a seriously distorted body shape, the impact of which means his left lung is being squashed. He has high muscle tone, which has caused both hips to dislocate; he cannot eat or drink orally and, in addition, has osteoporosis. As a result, he needs 24-hour postural care and has little movement.
More than 70 health professionals are now involved in Elijah’s medical care. He has a craniofacial team, physiotherapist, speech and language therapist, and cardiologist, to name but a few. I would say that 10-15 of those professionals are involved in Elijah’s life because of some aspect of having Apert Syndrome. And this is a key point. For a long time, Elijah’s brain injury took the focus away from the fact we had been on a journey to manage the symptoms caused by Apert Syndrome. I have been determined to continue that journey as Apert Syndrome is an underlying condition we mustn’t forget.
These days, Elijah is cared for under the excellent Great Ormond Street, which looked after me so well in my teenage years. We have recently changed his diet to the ketogenic diet, which has had an amazingly positive impact on the frequency of his seizures. Earlier this summer, we headed down to Cornwall for a fortnight’s holiday and we took Elijah into the sea – his pleasure at this typical childhood experience was a joy to behold.
And so that brings us to today and Elijah’s Hope CIC.
Elijah’s Hope CIC
After the horrendous year that was 2013, I decided to use my experiences to help others. Elijah is my inspiration and the reason I want to support and empower people with disability and/or ill health, as well as their families.
Through Elijah’s Hope, we offer luncheon clubs, one-to-one peer support, Circles of Support, workshops, Equine Facilitated Learning and much more to families in the South West of England living with the challenges of acute child illness. It is also important to me to raise the profile of Apert Syndrome and to provide a one-stop resource to other families that might be facing some of the challenges associated with living with this rare condition and so we have recently launched the Elijah's Hope for Apert website which, if you join for free, you can read the growing list of medical articles we're gathering on Apert
This coming April, we will be hosting Elijah’s First International Conference: The Living University of Postural Care, as part of our on-going work to improve the provision of 24-hour postural care for people with limited movement or complex disabilities.
You can find out more about Elijah’s Hope CIC and the valuable work we do at www.elijahs-hope.org
- Elijah's Hope is a founding member of the new RareConnect community for Apert syndrome
- Elijah's Hope is on Twitter & Facebook Please do follow/like them, because I (Tania) help to manage them and would appreciate it!
- Don't forget, it's Rare Disease Day on 28th February. Send us your Rare Disease stories about living with a rare condition and we'll put them on the site! Email Tania here
Tania is an experienced broadcast and print journalist & author. She also runs a PR, web & social media consultancy, SocialOro Media.
Tania is a rare disease & chronic pain patient advocate with Ehlers Danlos syndrome.
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