“Ailsa amazes us every day”: Three-year-old has rare genetic disorder affecting 25 people

Three years later the family and doctors are still learning about Ailsa's rare condition

LITTLE Ailsa Scobie was born with a debilitating genetic disorder that she shares with only 25 others in the world.

 

Ailsa Scobie, three, is very good at making her wishes known. Her mother, Katrina, describes her as “the boss of everything – she lets everyone know what is happening, when and where. She is always on the go.”

 

Katrina says that despite the challenges, her daughter amazes her every single day

 

Ailsa is just beginning to take her first steps and communicates largely through sign language

 

Like many little girls of her age, Ailsa also enjoys going to nursery, playing with her big sister, seeing animals, playing on the iPad, watching her favourite programmes and – especially – eating chocolate.

Beyond all this though, Ailsa’s experience is very different to that of most children her age. Much of her life so far has been spent in hospital. Due to a rare chromosomal abnormality she has a range of health problems. She is just beginning to take her first steps, communicates largely through sign language and receives most of her nutrition through a tube to her stomach. She has albinism – which affects her sight – hip problems and suffers frequent debilitating infections.

Ailsa was two months old when Katrina, 37, and her husband Sam, 52, a landscape gardener from East Lothian, were told that their daughter had a duplication on the 22nd chromosome (in the area known as q13.1) – a condition so rare that only 25 others in the world are known to share it.

Nearly three years later the family – and doctors – are still learning about Ailsa’s condition day by day. They are determined to help others in the similar situation of having a child with a rare genetic disorder.

Through the charity, Unique, which supports families of children with rare disorders, they have been able to make contact with other families. “Raising awareness and funds is so important. The specific problems are so rare that it can be a very isolating experience,” says Katrina. “For us finding people who understood, who could show us just how much these children could achieve and that we could cope, was a lifeline.”

When Ailsa was born, Katrina had been expecting a large, dark-haired baby, resembling herself and Sam. She was handed a small, silver-haired girl and, she says, she had an immediate sense that something was wrong.

“Even through the pregnancy I felt it wasn’t quite right,” she explains. “Then when I saw Ailsa, she was tiny and so fair. I noticed her ears were all turned in and low-set. Then she really struggled with feeding.”

 

Midwives reassured Katrina that Ailsa was most likely just affected by the rigours of birth and the family were allowed to go home, but within two weeks her condition had worsened. She was totally unable to breast-feed, could take only a tiny amount from a bottle and was vomiting regularly.

“She was losing weight. We began to panic,” says Katrina. They took Ailsa to their GP, who immediately referred her to hospital. “She told us she would send a note with us, and we saw it seemed to go on for ever.” Once at the hospital, Katrina’s fears that Ailsa was seriously ill were realised.

“She was taken from us. The lights and buzzers were going off and there were different doctors running around. My husband and I were left standing there, not knowing what was going on. It was horrendous, terrifying,” she says.

We didn’t really have any information because the geneticists didn’t know of anyone else with the condition. Everyone was in the dark

Ailsa's mother Katrina

Doctors discovered two holes and a leaking valve in Ailsa’s heart and – noting her dysmorphic facial features – began to suspect a genetic condition. “We were taken into a side roomand they kept asking who we thought she looked like,” says Katrina. “It was obvious to me she looked like her dad and grandad but we were starting to wonder where the questions were leading.”

The family were told Ailsa’s condition was so serious she may not survive the night. “It was like a dream, utterly surreal, like living in someone else’s life,” recalls Katrina.

Thankfully, Ailsa battled through the immediate crisis and six weeks later the suspicion that her heart problems were caused by a chromosomal abnormality was confirmed.

“We knew nothing before then about chromosomal disorders and even when we were told the details, we didn’t really have any information because the geneticists didn’t know of anyone else with the condition. Everyone was in the dark.”

For the Scobies, this uncertainty was frustrating and frightening. “The not knowing, the fact that not even the doctors could predict Ailsa’s future was hardest thing. We had so many questions and no answers.”

 

The family settled into a routine of sorts, with Ailsa in and out of hospital for tests and to treat her recurrent infections. The toll on her parents and her older sister Bethan, 14, was high.

“When the nurse had told us early on that we would be in hospital a lot, I remember thinking it might still all be fine, that she would somehow prove them all wrong,” recalls Katrina. “There is still a part of you which doesn’t quite believe what is happening.”

Now though, says Katrina, the family are largely focused on just how much Ailsa can do. “For me the absolute highlight was her saying, ‘Mum.’ I had waited such a long time to hear that. That and seeing her start to stand and now even cruise round the furniture is amazing. We have both been in tears watching her push herself so far. We don’t take the little things for granted.”

Being the parent of a child with a disability requires adjustment, says Katrina. “It is only human nature to think about the future but we have learned to live with uncertainty. We hope she will be able to walk and talk, carry on getting the most out of life, join in with her friends.”

Their message to other families finding themselves with a shock diagnosis such as Ailsa’s is a simple one.

“Believe in your child. They – and you – are so much stronger than you realise. We wouldn’t change Ailsa. We don’t look at her as Ailsa who has chromosome 22, 13.1 duplication, we look at her as Ailsa who amazes us every single day. She gives us such joy. It is an amazing, humbling experience.”

Jeans for Genes Day, which raises funds for children suffering from genetic disorders, is on September 18. To sign up, go to jeansforgenes.org.

Genetic disorders

• “There is a large number of conditions and many are very rare – sometimes unique to a family or individual,” says Dr Siddarth Bank, consultant clinical geneticist at the Manchester Centre for Genomic Medicine, Saint Mary’s Hospital. But he adds that while specific conditions may be rare, large numbers of people are affected by them.
• “Awareness of rare genetic diseases does vary among medical professionals and even with the best possible information, it may be difficult to accurately predict the prognosis for an individual.” Experts, he explains, use their knowledge, experience and medical literature to give families a fair assessment of what to expect.
• Ongoing research and the advancement of genetic technologies – including The British 100,000 Genomes Project – will help improve the support for affected families. “There are a few genetic conditions which can be cured,” says Dr Bank, “but the list of conditions for which treatments can alleviate problems is growing.”