Ava Weeks, three, from Brundall, lives with Apert syndrome, a very rare disorder that affects how bones develop and grow.
To manage that, she had undergone the following surgeries as of November 2018:
Two to monitor the pressure inside her skull;
- Two to break open the back of her skull and give her brain enough room to grow;
- One to bring forward her forehead;
- Two on each hand to separate her fingers and give her five digits;
- Four skin grafts to supply skin for the new fingers; and
- Two sets of grommets inserted in her ears.
Ava will continue to have operations as and when is necessary to help her
develop as normally as possible. When her bones stop growing, she will be offered surgery for aesthetic reasons. Most people with Apert syndrome will go through around 40 surgeries during their lifetime.
Ava had to go to London’s Great Ormond Street Hospital every three months in her first year, every six months during her second and now has a huge multidisciplinary team, including speech and language therapists, plastic surgeons, neurosurgeons and ophthalmologists, that will assess her annually. She has various reviews and therapies closer to home.
Ava lives with her mum, Carly, 35, a former speech and language therapist herself at Norfolk Community Health and Care NHS Trust, dad, Jonathan, 39, a partner at Jackson-Stops estate agency, and sister, Noa, one.
Carly explained how Ava was diagnosed with an abdominal wall defect known as an exomphalos during her pregnancy.
“We had extra scans and genetic testing during the pregnancy, but everything came back clear. It didn’t look like the exomphalos was going to be accompanied by any other changes. We found an amazing Facebook page that shared information about exomphalos treatment options and stories from other families of children with the same condition, showing us many children with this type of defect went on to live long and healthy lives. That gave us hope things would work out OK.
“Then, when Ava was born, the doctors noticed some obvious differences to her body - her forehead and face were a different shape to other babies, the bones in her fingers were fused together, the bones in her toes were also fused, she had a cleft palate, a heart defect, persistent glue ear and a structure in her brain had only partially developed. She was diagnosed with Apert syndrome. Despite it being a genetic disorder, it occurs randomly and so we’ve no family history of this syndrome. It came as a massive shock.
“We were given some literature that was really dated and talked about children with the syndrome being institutionalised and, of course, our initial Google searches were not very encouraging either! Then we found a couple of support groups on Facebook and discovered there are lots of adults with Apert syndrome who have jobs. Some have PhDs, one is a lawyer in the United States, some are registered nurses, some are married, with their own children. This gave us some hope again.”
Nevertheless, the exomphalos meant a long stay in intensive care, feeding difficulties and a nasogastric tube for five-and-a-half months. Ava underwent surgery at three-and-a-half weeks and then ten-and-a-half weeks.
Carly said: “I learnt to dress her stomach wound, involving twice daily dressing changes, each taking around half an hour, and to tube feed her. We had several unplanned trips to hospital because the wound didn’t heal as planned and it was so rare the community nurses didn’t really know what to expect in terms of healing, so the surgeons needed to keep a close eye on it and we kept having to wait around for them to check her out. She now has follow-ups with the surgeons and we need to keep a close eye on her because she’s at an increased risk of further bowel blockages and adhesions from her previous stomach surgeries.”
Through the tough times, one constant source of support has been East Anglia’s Children’s Hospices (EACH) who offered Ava care at their hospice in Quidenham, which is currently moving to a new building in Framingham Earl.
Ava regularly attended a support group run by the charity before she started nursery, whilst Carly and Jonathan attended parent support groups. They have both had counselling to help them come to terms with Ava’s condition.
“I’ve been seeing a counsellor from EACH for the past couple of years,” said Carly. “It’s really been an absolute life- and sanity-saver. The counsellor is trained in supporting parents of children with medically complex, potentially life-threatening conditions and, honestly, I don’t know where else in Norfolk you’d find such specialist support for free.
“One of the difficult things about Ava’s condition is that because she looks different, other people, adults and children alike, often stare and make rude comments about her. It’s immensely upsetting and hurtful. The counsellor has worked with me to find ways to cope with this and manage it in a positive way.
“The trauma of Ava’s numerous surgeries and investigations has been difficult for us to manage, and the ongoing nature of her condition means we’re never quite sure when the next surgery will be, so the counsellor has helped me to deal with the endlessness and the uncertainty of her condition, and she’s helped me work through some of the more harrowing things we’ve seen Ava go through. Without her help, I’m not sure we’d be together as a family.”
Although Ava might look different, she is caring, outgoing, funny and curious, and enjoys the same things as any other child of her age – painting, singing, building with Duplo, watching Peppa Pig and playing with friends.
Ava has met lots of other children with additional needs in Quidenham, whilst Carly has spent time with other parents who “just get what it’s like having a child whose life has been far from normal”. Carly likes to think of those she knows through EACH as a “hospice family”.
She continued to explain: “Through the hospice we met another family whose son has a rare craniofacial syndrome like Ava’s. It’s been so encouraging to be friends with another family whose child has had and will continue to have similar experiences to Ava. I hope as the children grow they will become firm friends and will be able to support each other through their treatments and life.”
EACH helps families make the most of their time together, including during the most special times of year. Carly’s most treasured memory comes from a “brilliant” Christmas party in 2017.
“It was so carefully and thoughtfully planned out. We had such a lovely and happy time making memories as a family, and spending time with precious hospice friends.”
EACH’s hospice in Quidenham is in the process of moving to a more purpose-built one in Framingham Earl, The Nook.
Carly said: “At Ava’s first birthday party we asked friends not to bring presents, but to bring donations for the nook appeal. I think we raised around £75-80. Quidenham is such a lovely, peaceful place, with some amazing resources, but the building’s small and not overly wheelchair friendly, and not in a central location. It’ll be lovely for families to enjoy the amazing resources the new site will be able to offer in a more accessible building and location"