Rare disease clinic for Poland Syndrome
Small UK charity makes Christmas dream come true by creating rare disease clinic for Poland Syndrome—a first for the UK. December 7 was the day a small charity’s dream came true, when the first clinic for a rare limb difference called Poland syndrome took place at Birmingham Children’s Hospital.
13 years ago, Sam Fillingham and her family overcame many obstacles to get the correct diagnosis for her young son. This journey inspired Sam to set up and lead a brand-new charity—vowing that no-one with this rare condition is ever alone again.
Sam’s journey with Poland syndrome started with confusion, loneliness and uncertainty as she struggled to secure a diagnosis for her young son born in 2008. Several GP didn’t understand the family’s concerns—they felt unheard and dismissed by medical professionals. They found it difficult to find the platform they needed to make their voice heard. Nevertheless, they persevered.
The family eventually received a diagnosis of Poland Syndrome (PS)* for their son, finally getting him on the right medical pathway.
Sam sought out other families who had gone through the same experience and knew that something had to change—somebody had to do something to raise awareness of this rare condition, to reach more families, and educate medical professionals. That “somebody” was Sam, alongside family and friends who wanted to help.
A new charity
PIP-UK was set up in 2011, initially as a community group to raise awareness of Poland Syndrome and to improve the lives of people living with PS. They built a website so that information could be found in one place, as well as a Facebook page to share stories and connect with others. Many families they connected with were just like them—struggling to get the right diagnosis for their children. But they also realised that many people had lived much of their lives without a proper diagnosis of PS. This had led to low self-esteem and, in the case of women, sometimes a deep sense of shame due to their physical differences especially in the chest area, with only one breast being developed.
More had to be done, and they were just the people to do it!
Their incredible band of volunteers gave tirelessly of their time and energy, raising funds so that they could take forward the things the community, had identified as key targets:
- Educate medical professions about Poland syndrome to raise awareness and improve patient experience.
- Provide a support network for people with Poland Syndrome and their friends and family members.
- Signpost people to the right medical professionals who can give the right advice.
They did this by:
- connecting the community through the Poland Syndrome Community Register Project
- working with ambassadors to raise the profile of PS, eg, Dr Kim Daybell, Paralympian and Jnr Doctor, who is already raising awareness of PS within the NHS, Lewis Hatchett, cricketer, Richard Stott, comedian, Becca Butcher Content Creator & Mental Health Advocate
- hosting an annual Family Fun Day and more recently a full weekend to bring families together for peer support (a mix of in-person and online)
- implementing a pilot year of events and activities to support mental health and self-esteem amongst young people, women and families of young children recently diagnosed with PS. This is particularly important at the moment as The Rare Reality of Covid-19 report highlighted that 66% of people in the rare disease community, of which we are part, say the interruption to their care has been detrimental to their wellbeing.
- taking the lead from the model set out by the Italian PS Association (AISP) and reviewing how this model can be implemented in the UK
- raising awareness of PS through their website, Facebook page, support packs to families and schools, and through the Rare Disease network.
- advocating for individuals and families so they know what to ask when seeing a medical professional, resulting in early treatment pathways including successful appeals against NHS
Growth and Impact
As reach and impact grew they took the step to become a formally registered charity in 2020 (charity number 1188941). This has helped attract funding grants, for example, the National Lottery Community Fund. Members of the PS community are not just volunteers and ambassadors, but active members on the Board of Trustees.
Sam has been working hard for the last 12 months to build relationship with medical professionals to raise awareness and generate scientific activity to create a dedicated path to treatment and diagnosis for PS.This hard work paid off over the summer when a group of surgeons contacted Sam and said they would like to set a clinic dedicated to Poland Syndrome.
A quick conference call later and the clinic was booked in for December 7 2021. This was the first ever Poland Syndrome Clinic in the UK. Sam worked alongside Andrea Jester (Clinical Lead at Birmingham Women’s and Children’s Hospital) Yvonne Wilson (Consultant Plastic Surgeon) and Giampiero Soccoroso (Consultant Paediatric Surgeon) to create a multi-disciplinary clinic specifically to help those living with Poland syndrome.
Currently this is a pilot programme and not funded by the NHS. However, three patients were seen at the first clinic and the surgeons have agreed to hold four more clinics in 2022. Sam is delighted that the three surgeons also involved agreed there is a need for this multidisciplinary approach and have agreed to give their time and dedication to creating a model path to diagnosis and treatment for all children with PS.
“After my son was born with Poland’s syndrome in 2008, I found myself with nowhere to go for help and advice on the condition. I vowed that anyone affected by Poland’s syndrome would never feel alone again.” Sam Fillingham
Sam has used her experience and love for her son to create PIP-UK to raise awareness of Poland Syndrome and create a community of people living with the syndrome. Sam has been working flat out this year with the support of the National Lottery to improve the treatment and diagnosis journey and believes that this clinic is a “dream come true and 26-year-old me, a new mum, lost and confused would be very proud of this achievement. If I’d had this clinic to turn to, I would have felt that my son and his condition mattered and would be taken care of. I am so proud to be the change that the 26-year-old me needed”.
PIP-UK is currently seeking corporate sponsors and fundraisers to help support the clinics in 2022, please get in touch if you can help firstname.lastname@example.org