A little girl with Down’s Syndrome
Speech and language therapists often work with children and adults who have complex medical conditions.
As a speech and language therapist its important to take into account all aspects of a person’s life to be able to create an intervention plan that is holistic and client centred.
This story in the Express shows how someone with a condition such as Down’s Syndrome can also have unexpected added complications that can impact on the basic of human functions such as breathing.
“Joanna Elkes calls her daughter “amazing Grace” for the courage that she has shown despite all the odds against her.
Joanna, 40, is a full-time mum to Molly, 11, and Grace, seven. She is married to Martin, 41, and they live in Bracknell, Berkshire. Joanna says: “Call it a mother’s instinct, but I knew there was something wrong. My baby daughter seemed to be working harder than normal to breathe. All day and night, Grace sounded like a little tractor rumbling away. Doctors at the local surgery and hospital repeatedly told me her breathing was nothing to worry about. They said because she had Down’s syndrome, her facial features meant she had smaller nasal passages than usual, hence the noisy breathing. ‘You’ll just have to accept that’s the way she is,’ they added.
But I couldn’t. Inside, I knew there was something else. If I’m honest, there had been a lot of things I’d found hard to accept since Grace was born. Including the very fact that she had Down’s syndrome. My pregnancy scans had shown nothing untoward, so when – 12 hours after she was born – doctors and nursing staff told me she might have Down’s, I was completely knocked for six.
Over the following months, I mourned the baby I’d thought I was having and found it difficult to bond with Grace.
All I could see were the negatives.
‘She’ll never be able to drive or get married,’ I’d sob to my husband. ‘She’ll never ride a horse, like I did as a child.’ My husband Martin was positive. ‘She will have a good life,’ he told me. But at the time, I just couldn’t believe it.
Through it all, I kept nagging the doctors over Grace’s breathing and eventually, in April 2008, when she was eight months old, they agreed to see if Grace had a floppy larynx, which can be common with Down’s syndrome babies.
At St George’s hospital in Tooting, London, while performing a bronchoscopy to look into Grace’s airways, doctors were shocked to discover that Grace had a far more serious problem with her trachea (or windpipe). It was only 1mm wide and it collapsed under anaesthetic.
Grace was transferred to Great Ormond Street Hospital (GOSH) and diagnosed with long segment tracheal stenosis – a condition where the windpipe is so narrow, it makes breathing difficult.
It’s a really rare disease – only one in five million children get it. Professor Martin Elliott, who was to be leading Grace’s care, told us to imagine running a 100-metre sprint and then trying to breathe through a straw. He said that for children like Grace who suffer from long segment tracheal stenosis, that’s what trying to breathe normally can feel like.
Luckily for us, GOSH is a centre of excellence in treating the condition and Grace was able to undergo a pioneering and extremely delicate surgery technique called a slide tracheoplasty, to widen her tiny trachea. She spent seven hours in the operating theatre.
When I walked into intensive care to see her afterwards, I was overwhelmed with emotion. There was my tiny baby, covered in wires and tubes, hooked to huge machines, fighting to stay alive. In that moment, it was as if someone flicked on a switch and all my maternal instincts kicked in. How could I have thought that Down’s syndrome was a problem when my baby had a life-threatening disease like this?
I went over to hold her tiny hand and sobbed. It was at that moment that I truly bonded with Grace and from then on, I probably became the most overprotective mum ever. I didn’t want to leave her side for one second.
We’d been warned that she might suffer some complications after surgery, but Grace seemed to want to tick every possible problem off the list. She suffered a collapsed lung and kidney failure, and her windpipe kept collapsing when doctors tried to take her off her ventilator. Eventually they decided to fit a metal cage called a stent to support the trachea and this helped her make enough progress to come off the ventilator and back home.
I found the first few months at home with Grace really difficult. Martin and I were trained in basic life support and told to look out for signs that she might be struggling to breathe. I was on full alert all day and hardly slept for months at night, as I kept checking on her. I hated letting her out of my sight and would usually end up sleeping on her bedroom floor.
But she pulled through and today, six years on, she is living life to the full, doing all the things I never thought she would. She rides several times a week at the local stables with her sister Molly and even came eighth in a competition recently. She attends a mainstream school and loves the sports day races (she may come last, but she has fun waving en route). Our only problem is trying to slow her down. She does get out of puff but she doesn’t quite grasp that her breathing is not as robust as other children, so it’s sometimes tough getting her to take time out.
As Grace has undergone a relatively new surgical procedure, it’s hard for doctors to give a long-term outlook, but all the signs are that she should continue to do well. She has to have regular bronchoscopies at the hospital but she never complains – she just takes it in her stride.
Often, when I look at Grace, I marvel at how she has battled through such a tough start in life. Instead of seeing the negatives, as I did when she was born, I now see the positives and all that she’s achieved. She’s my ‘amazing Grace’ and we’re just so lucky to have her.”
“I have an ‘ouchy’ on my chest [a scar] from my operation, but I don’t mind going to hospital. I see the play clown and get to play with bubbles. At school, I like science, making things and messy play with the shaving foam. I also love Donald Duck, my pony. I like to brush him and I ride him on my own with help from Mummy and Molly.”
Grace and GOSH
Long segment tracheal stenosis (LSTS) is a narrowing of the windpipe (trachea), the tube leading from the throat to the lungs.
The exact numbers of children with LSTS is not known. At Great Ormond Street Hospital, doctors see between eight and 10 children each year with the condition. Its cause is unknown.
The trachea is made up of a series of C-shaped rings of cartilage linked together, similar to vacuum-cleaner tubing. When a child has tracheal stenosis, these rings are often fixed and don’t allow for growth.
GOSH is one of only a few centres in the world that perform the “slide tracheoplasty” procedure to correct the condition.
Last summer, Grace attended the Ask Italian Triathlon to help raise £1 million towards a new surgery centre at the hospital. Visit their website here
The story can be found at the Daily Express
Written by Rachel Harrison, speech and language therapist, on behalf of Integrated Treatment Services.