Touching Lives - April 2015
How an accurate diagnosis helps children with Jeune syndrome
The discovery in 2014 of new genes that cause Jeune syndrome represents a significant breakthrough in understanding this life-threatening hereditary disease. For families, it already means improved genetic testing, prenatal diagnosis and management of this devastating condition.
Babies with Jeune syndrome are born with short arms and legs and an unusually small ribcage, which can cause life-threatening breathing problems. This rare, inherited condition can also result in eye, kidney and liver disease. Tragically, for 20 to 40 per cent of children with Jeune syndrome the condition is fatal, with many sadly losing their lives before their first birthday. Children who survive often need complex chest surgery, and may face a lifetime of breathing difficulties, respiratory infections and hospital admissions.
In 2011, Action awarded a Research Training Fellowship of more than £176,000 to talented young researcher Dr Miriam Schmidts to investigate causes of Jeune syndrome. Working with a specialist team Dr Schmidts, who is based at the Institute of Child Health in London, analysed the DNA of affected children and their close family members.
Dr Schmidts was able to identify six new genes which cause Jeune syndrome. Already, families are benefiting since genetic diagnosis helps to identify specific features of the disease. This, in turn, helps doctors manage each patient’s treatment. The research has also led to a family support group being established, which can reduce feelings of isolation associated with this rare disease, which affects an estimated 600 people in the UK.
Improved access to genetic testing and counselling is vital, since most people are unaware that they are carrying a gene for the condition. As Dr Schmidts comments, “It can help parents enormously just to know why their baby has been born with an inherited illness like Jeune syndrome.”
For Mark and Amanda, their son’s diagnosis came as a complete shock. At Amanda’s 20 week pregnancy scan, the couple discovered that their second unborn son appeared to be affected by some form of dwarfism. They were advised to consider termination as an option, but decided to continue with the pregnancy.
Nearly a month after Joshua was born, tests revealed that he was severely affected by Jeune syndrome. From birth, Joshua struggled with breathing problems, initially needing a treatment called continuous positive airway pressure to prevent his airways from collapsing. Gradually things got worse and he needed more and more oxygen.
“At one point, Joshua was given only three weeks to live,” says Mark. “So Amanda and I hurried to organise his christening. We could never have imagined that we would be considering our baby’s funeral, even though we had suffered a stillbirth of his sister Chloe only a few years before. It was devastating.”
A Great Ormond Street Hospital surgeon advised chest expansion surgery to help Joshua breathe. But due to an infection, baby Joshua suffered a sudden cardiac arrest. Thankfully, he pulled through. The major, invasive procedure requiring six to eight hours in theatre was rescheduled, but Mark and Amanda were warned to prepare for the worst. Thankfully, the operation went well and after just five days Joshua was back at Manchester Children’s Hospital.
Joshua is now cared for at home, but needs a ventilator to help him breathe. Aged just three, he has endured further chest surgery and receives weekly physiotherapy.
Having a child with Jeune syndrome has affected the family’s life in every way. As Joshua’s primary carer, Amanda is unable to work. “It’s been very difficult for Joshua’s older brother Ethan,” his dad admits. “We’ve been really honest with him. He’s a little older now, so understands a little better. He sees a counsellor once a week, which is a wonderful support for him. He loves his brother to bits though.”
Joshua cannot talk but is visually aware, loves music and uses his hands to manipulate toys and explore textures. His dad says, “He loves his films: Fantasia, Finding Nemo, Bambi; all the classics!”
“Only a year ago Joshua was dependent on us and his carers for all his position changes,” Mark adds. “Now he is sitting up and is trying to stand – he keeps us on our toes because he can certainly get about! He’s such a happy little boy and as long as he continues to be, then so are we.”
Our February 2014 appeal featuring little Joshua raised more than £6,000. We are so grateful for every donation towards our work helping sick babies and children.