Rare Disease Day 2016: What it means to us

Rare Disease Day on 29th February holds personal significance for two colleagues working in our Rare Disease Unit; Jessica Imrie and Julie Venners Christensen both have children with rare disorders.

Jessica has worked at GSK for 14 years in different parts of the business and is currently Gene Therapy Head of Strategy and Operations. Julie is Head of Global Patient Advocacy for Gene Therapy, a position she has joined recently having worked in the US patient advocacy team for over five years.

Both Julie and Jessica say that their experience of having a child with a rare disease means they can provide the GSK rare disease team with a truly personal insight into the needs of parents and children with a rare disease. This goes beyond understanding what is needed to treat the disease, and helps ensure that we always have in mind the child that is being treated.

Jessica’s story: How one twin saved another from a rare disease

Jessica has twins – Abigail and Jack – who are four years old. At birth, Jessica noticed that Abigail was failing to thrive. At two months, she was diagnosed with sleep apnoea. An operation was scheduled to correct this but just before it was about to take place, tests showed that Abigail had a rare genetic fault which meant that her immune system wasn’t able to fight infection. As a result the surgery to correct her sleep apnoea was too risky.

By June 2012, Abigail’s immune system was strong enough for her to interact with other children. Until then, the twins hadn’t been introduced to other children. The first time they went to the playground, they simply stood and stared at the other children for 40 minutes before eventually joining them to play. Abigail and Jack now lead the lives of typical four-year-olds who are about to start school. Abigail still sees a number of specialists, but none of the complications from her illness are life-threatening.

Jessica says she feels blessed that Abigail and Jack have each other. Without Jack, Abigail would have died. She says that she has been lucky, as some families of children with this rare condition who don’t have a bone marrow donor have children living in isolation units for five years or more, or they don’t survive. Abigail and Jack are inseparable and she tells everyone that he saved her life, whilst he’s fiercely protective of her.

Julie’s story: Diagnosed with a rare disease twenty-one years ago, Julie's daughter was given less than a year to live. Today she is starting to live an independent life.

Julie’s daughter Brielle is 21 years old and has mitochondrial disease, a rare inherited chronic disease affecting the mitochondria. Mitochondria play an essential role in generating cellular energy, as well as cell signaling, cell growth, cell differentiation and cell death. Symptoms of mitochondrial disease are numerous and include poor growth, lack of muscle coordination, visual and hearing problems, learning disabilities, heart, liver, kidney and brain disease and respiratory disorders. These symptoms can vary greatly from person to person and although research is ongoing, there are few treatment options.

Brielle is now a young woman whose whole life has been hugely impacted by this disease. Taking up the battle for her daughter’s health and happiness has also been life-changing for Julie and for the rest of her family, with ever-new challenges as Brielle has progressed through infanthood to adulthood and health and social care have changed over the last 21 years.

After Brielle was born, Julie noticed that she wasn’t developing as fast as her other children and was struggling to meet developmental milestones. However, despite repeated visits to her paediatrician, her disorder went undiagnosed for four months.

Brielle’s diagnosis was pure coincidence. Julie brought her along when visiting a friend whose husband was a medical student and happened to see Brielle. He spotted immediately that something was wrong and suggested that Julie take her to hospital. On his advice, Julie rushed Brielle to the Emergency Room and she was immediately admitted for tests.

Julie was warned that Brielle was very ill, and unlikely to live past one year of age. She was unable to eat and in four months had only gained 4lbs. A paediatrician recommended surgery to insert a feeding tube – a potentially risky procedure for an infant. Sitting in the hospital café contemplating this, Julie was distraught. Willing to try anything to feed her daughter, she gave Brielle a sip of the coffee creamer on her table. Brielle kept this down, and drank six more. Julie mentioned this to her paediatrician who advised her to continue feeding Brielle in this way. So Julie bought creamer sachets in bulk, added nutritional supplements to help Brielle get the nutrients she needed and fed them to her. She gained a pound in one week and continued to put on weight over the following months.

Brielle was too weak for traditional physical therapy, so Julie had to investigate different types of activity as Brielle got older, as well as speech therapy, as she was initially unable to learn to talk like her siblings. With this therapy and educational support, Brielle’s intellect and understanding of the world have increased as she has grown up, and although she has special educational needs, she was able to attend school. Her strength and mobility have also increased, and Julie has lobbied for respite care for her as she enters into adulthood, to allow her to have a degree of freedom in a safe environment.

These are just a few examples of the inventive and tireless ways in which Julie addressed the obstacles to her daughter’s wellbeing. In addition to looking out for Brielle’s general health, Julie also campaigned for the best care possible for Brielle, at a time in the mid 1990’s when rare diseases such as mitochondrial disease were even less well understood than they are today. She has worked for non-governmental organisations and the US Senate as a health policy fellow, to champion advances in awareness of, and research into rare diseases. Although she admits that over two decades later, there is still a long way to go.

It was through her campaigning activities that Julie learnt about a role at GSK in the patient advocacy team, working in the Rare Disease Unit. There was an opportunity to bring her significant insights and understanding of the challenges faced by those affected by rare diseases to an organisation trying to make a medical difference to patients.

Julie is proud of the person that Brielle has become – a young woman who loves to dance and cares very deeply for her family. She has encountered challenges, including difficulty doing everyday tasks and behavioral challenges, but has come a long way. 

Rare Disease Day - 29 February 2016

Jessica and Julie are supporting Rare Disease Day on 29 February 2016 to give a voice to people like Abigail and Brielle who are living with one of the 7,000+ rare diseases that we know about, in the hope that someday these will all be treatable.