Isabelle's story 1p36 deletion syndrome - Jeans for Genes

Isabelle's story

Isabelle Webb was born with the rare genetic disorder 1p36 deletion syndrome. She received her diagnosis just before her second birthday. At the age of one, Isabelle was developmentally like a 3-month-old baby. She didn’t roll, crawl, sit up and made no noises. 1p36 deletion syndrome is one of the most common chromosome deletion disorders, occurring in one in 5,000 births. Isabelle has defied expectations and can walk. She doesn’t speak, communicating through sign language. She has no sense of danger and some autistic characteristics.

The moment her daughter was born, Gemma knew there was something not quite right. For Gemma it was just ‘a feeling’ that all was not well with baby Isabelle. “I had a problem-free delivery at home,” Gemma says. “But when she was born I handed her straight back to the midwife and said something is wrong. I didn’t get the instant bond that I’d had with my son Stephen, now aged six. The midwife rubbed her, and she began to cry. She told me my baby was fine and handed her back. I felt terribly guilty.”

Over the next few months Gemma, 30, from Croydon, South London, noticed the signs that Isabelle wasn’t developing as normal. She struggled to breastfeed, then when she switched to bottles Isabelle would only take an ounce of milk every so often. She wasn’t meeting any expected infant milestones. Each time she went to the doctor or health visitor Gemma was reassured that her baby was fine. Gemma says: “She cried the whole time. I hardly slept, it drove me crazy. Isabelle needed me 24/7. I was very close to a nervous breakdown. I was working full-time then and it was a very dark time. It took two years of my husband David and I battling with the doctors for them to see that there was something wrong.”

At the age of one Isabelle was still not eating solids, was severely constipated and made no noises. She cried all the time, didn’t sleep, didn’t roll, crawl or sit up. She was referred to a paediatrician, who said she was just a lazy child. “It was very much like having a three-month-old baby,” Gemma recalls. “It was very hard to get any response from her, she didn’t seem to recognise us. I felt quite isolated. I had nervous exhaustion and was put on anti-depressants. In the end I resigned from my job and my husband had to increase his work as an electrician to six days a week.”

Six months later, Gemma saw a different paediatrician. The doctor recognised Isabelle wasn’t meeting milestones, not sleeping and noted Isabelle’s long, skinny frame and facial characteristics – sticky out ears and large forehead. Tests, physiotherapy, an MRI scan and genetic testing followed. Just before Isabelle’s second birthday the couple were called in to discuss the results.  Gemma says: “I remember the paediatrician said, ‘I’m going to say it quickly, because it will be a shock. I am so sorry. As you have probably guessed, your daughter has a genetic disorder. She has 1P36 deletion syndrome. I have never come across this before, I have researched it and have this leaflet for you. She will need lifelong care.’

“David and I were in shock. The doctor read out a list of associated problems. Developmental delay, hypertonia, feeding difficulties…seizure, disease of the heart/minor heart defects, hearing and vision loss, large soft spot, spine problems, thyroid problems, issues with kidneys, infections, digestive disorders. It was horrible to hear. All the hopes and dreams you have for your child all vanish. She’d need permanent care for the rest of her life.”

Chromosome 1p36 deletion is a rare chromosome disorder that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. Features of the condition include delayed development, lack of speech, poor muscle tone, seizures and distinctive facial features. It is usually not inherited. It is one of the most common chromosome deletion disorders, believed to affect one in 5,000 new-born babies. It affects girls more often than boys.

Gemma and David were put in touch, via social media, with other families with children with 1p36 deletion. All the children had varying challenges. These families became a life-line for the couple.

Now aged three, Isabelle has defied expectations and can walk, albeit unsteadily. She uses a wheelchair when out. She has no sense of danger and will head towards a road or a pond. She doesn’t speak, communicating instead via Makaton sign language. She has absence seizures which are controlled by medication, however she will sometimes bite her tongue. She still wears nappies. Her behaviour has some autistic characteristics – she flaps her arms, rocks, chews and bites and finds loud noises too much. She is waiting for an assessment for autism.

As the condition can affect the heart, Isabelle has regular checks. Her eyesight and hearing may also deteriorate but for now doctors have said she is fine.

Gemma says: “It is so tricky to know what the future holds. She may stay at this stage or she may grow up almost independent. It is so hard to see what the future will be. I hope she will have a normal life expectancy.

“She idolises her brother, she really clings to him. She likes to play on her iPad. She is a thrill seeker, she likes to be thrown up in the air, spun around at the park and be up high on the swings. She loves being outside.”

Gemma has had support from the Sandcastle Trust, which receives a grant from funds raised on Jeans for Genes Day 2018. Gemma says “We do all we can to help with her progress, including private therapy for Speech and Occupational Therapy. However, this is very costly and often means we don’t have the funds for days out. The Sandcastle Trust has helped us massively with this.”