Mum of three, Helen, shares how she supports daughter, Ella, to manage the effects of spina bifida, and how the condition impacts the whole family.
There is a history of spina bifida in our family so I took a high dose of folic acid during my pregnancy with Ella. My brother was severely affected by the condition and sadly passed away aged just 22.
I had a smooth pregnancy with Ella, although late scans showed what we were told was a placental cyst. However, when Ella was born, we could see straight away that she had an open hole at the base of her spine, a clear indication of spina bifida.
Her hole was wrapped in cling film to prevent infection and she was whisked straight up to intensive care. After two nights we were transferred to Great Ormond Street Hospital (GOSH) where Ella could be looked after by a specialist team. Just minutes after arriving, Ella had a life-saving operation to close up the hole.
Spina bifida – a hidden disability
Ella has the most severe form of spina bifida, but in many ways it manifests itself as a hidden disability as it’s hard to see the impact it has on her daily life.
Her hole is located at the bottom of her spine, so the damage is around the nerves responsible for her bowel and bladder. Ella has a neuropathic bladder so without medical intervention, it constantly tremors, leaks and never fully empties. At six months old, in order to try and reduce the number of infections, we started catheterising Ella five times a day and giving her daily antibiotics.
“It was heartbreaking to see her like that and be unable to help”
We were aware that the spina bifida had affected Ella’s bowel when she was just a few months old. Ella would scream in pain when passing stools. We tried different medications to regulate her bowel movements but they didn’t work. Aged four, it was decided that the best course of action for Ella was an Antegrade Colonic Enema (ACE), which is designed to support bowel control.
“As one problem seemed to be resolved, another appeared”
The surgeon created a stoma site, a small opening on the surface of her abdomen, by using her appendix to form a channel from her large intestine to the outside of her stomach. The stoma site was used daily to try and evacuate faeces, known as ‘the flush’ and could take up to two hours. Unfortunately, Ella experienced incredible complications with her ACE including infections and significant pain.
After a year, it was decided a Mic Key button, which acts as a permanent lid over the stoma site, should be fitted to try and reduce the stoma infections. A feeding tube can be clicked in and medicine administered that way. During the procedure to fit the button, it was found that Ella’s ACE channel was twisted so the Mic Key button couldn’t be put in place. This was devastating for all of us, particularly Ella, who was experiencing huge discomfort.
A few weeks later, Ella had surgery to fix her twisted channel and fit the Mic Key button. Despite the surgery being successful, her flush still wasn’t working, leaving her incontinent and meaning she was spending hours on the loo at home and at school.
We were finding it hard to cope and losing hope that something could be done. Three months after surgery, tests that revealed Ella’s bowel was swollen. Her medication was adjusted and we were advised to do the flush every other day to try and regulate her movements. We were told it could take a year for her bowel to get back to normal.
As one problem seemed to be resolved, though, another appeared. Ella’s bladder had always been reasonably under control with medical help but Ella started to experience leaking in between her catheters. To try and stop this, Ella took medication to calm her bladder but the particular one she used stopped being made when she was around six.
We tried alternative ones, but often with awful side effects. Eventually, it was decided that trialling botox injections to paralyse Ella’s bladder would be the best option. Thankfully, the botox worked and she has injections every nine months.
Currently, Ella’s medical routine takes around two hours a day, including six catheters and one ACE washout. She is still incontinent.
When Ella was just three days old, we were told there was a chance she may never walk. After many physiotherapy and hydrotherapy sessions, she took her first steps aged 18 months – an incredible moment for us all.
“Ella is incredibly independent and a real inspiration”
Then, in summer 2017, aged eight, Ella took on the Superhero Triathlon for Sparks. Despite being told she may never walk, let alone ride a bike or run, she completed the 200 metre swim, 3 km cycle and 1km run in under 45 minutes! She raised over £1,000 for children’s medical research. It was an empowering day and instilled a determination in Ella to continue to live her life to the full. We are so proud of her!
What we’re doing to help children with spina bifida
Sparks has been funding pioneering research into neural tube defects like spina bifida for the last 15 years. In 2016, Sparks-funded researchers Professor Andy Copp and Professor Nick Greene reported that combining Vitamin B8 with folic acid could prevent spina bifida.
As part of the joint national call with Great Ormond Street Hospital Children’s Charity, we’ve just agreed to fund their new study, which looks to understand the causes of a common brain defect associated with spina bifida and determine if fetal surgery for spina bifida could help reduce its severity.
Find out about our research project looking at spina bifida.