Rare Disease Patient Groups: Taking Research Into Their Own Hands

Rare Diseases and Research Participation


Living with a rare disease can be an incredibly isolating experience, with some patients suffering in silence for many years. This problem is exacerbated by chronic underfunding for rare disease research, few opportunities for patient involvement and a lack of awareness surrounding these conditions. I spoke to Emma, a patient advocate for PIP-UK (Poland Syndrome Charity) who’s teenage son has Poland Syndrome, who informed me that many people can go for their whole lives thinking that ‘they’re the only person in the world with the condition’; the severe lack of knowledge and research into Poland Syndrome is a major barrier to diagnosis. It was interesting to hear from her about the new Global Poland Syndrome Community Register, launching this month, and its potential to empower patients and influence future research into this rare disease. I also talked to Annabel, who plays an active role in numerous patient advocacy and support groups for Poland Syndrome and Myalgic Encephalomyelitis (ME), and is keen for increased participation in Poland Syndrome Research.

What is Poland Syndrome?

Poland syndrome is a rare congenital musculoskeletal condition, which typically presents with absence of the pectoral muscles on one side of the body and syndactyly (webbed fingers) on the same side. Diagnosis is based upon clinical findings, and the presentation can vary from mild to severe. In more severe cases, patients may also have missing ribs, absence of the latissimus dorsi or serratus anterior muscles, and shortening of the arm (1).

The incidence of Poland Syndrome is estimated to be between 1 in 10,000-100,000 (1). This huge range owes to the lack of research into the condition, as well as the fact that many people remain undiagnosed. The aetiology is also poorly understood but current theories propose that it results from disruption to blood supply during embryonic development (1).

Although cases of Poland Syndrome are usually sporadic, some familial cases have been reported and some copy number variations have been identified (2).The research into the genetics of this condition is still in its infancy, and the uncertainty surrounding familial cases has the potential to evoke anxiety during family planning (3). Thus it is an area of essential future research to enable the provision of suitable genetic counselling for families.

The Rather Large Issue of Seeking a Diagnosis

From Annabel and Emma’s son’s experiences, it can be a difficult and lengthy process to obtain a diagnosis, and patients are often passed from one healthcare professional to another. At present, there is no established pathway for recognising and diagnosing patients with Poland Syndrome. As Annabel explained, ‘the more severe the symptoms, the more likely someone will join up the dots’, eventually leading to a Poland Syndrome diagnosis. However, as she also pointed out, ‘we don’t know how many people are at the other end of the spectrum’, who have very mild symptoms that may go unrecognised for many years, but who could benefit from recognition, support and treatment. The difficulty faced in seeking a diagnosis seems to be a common experience, not just in individuals affected by Poland Syndrome, but in those with rare diseases in general. Emma spoke to me about the ‘gaps and cliff edges in healthcare services for people with Poland Syndrome’. Undertaking research into patients’ experiences of seeking a diagnosis, and taking lessons from cases where patients obtained a particularly fast diagnosis, could help to implement a recognised diagnostic pathway for Poland Syndrome, and improve standards of care.

Researching Treatments
One issue that is important to Poland Syndrome patient advocates surrounds the controversial provision of latissimus dorsi transfer surgery to paediatric patients, a surgery with primarily aesthetic purposes. This surgery is used for reconstruction of chest wall deformities caused by the absence of the pectoralis major muscle. Recent clinical recommendations advise that muscle transpositions should not be performed in paediatric patients(4), and only selectively in adult patients. However, without a greater evidence base to suggest adverse outcomes, in some cases these surgeries continue to be performed. Therefore, it is essential that clinical studies are offered to establish the post-operative impacts of this surgery, including whether it leads to the development of scoliosis.

As a musculoskeletal disorder which causes physical differences, it is very easy to overlook the psychosocial impacts of Poland Syndrome. For young girls in particular, the lack of pectoralis major and overlying breast tissue can have a substantial negative impact on body image and their mental health. Annabel explained to me that her left breast not developing during adolescence was the hardest thing she faced with Poland Syndrome, and many patients with the condition share similar experiences. Breast reconstruction surgery is an option for patients, but non-oncologic breast surgery is not routinely funded by the NHS, which may result in additional barriers to treatment. However, involving patients in research into the impacts of the condition may enable the provision of similar treatments to others with Poland Syndrome.

The Global Poland Syndrome Community Register

Patient advocacy groups can have a very meaningful impact on rare disease research (5). In the case of Poland Syndrome, patient participation in research could help to answer questions from members of the patient community, specifically around the efficacy and safety of current surgical treatment options, and about how the condition affects patients in later life. Patient groups have become essential in the early stages of rare disease research, such as through the development of patient registries, since without knowing the key information about a disease, including its prevalence and common presentations, it is very difficult to gain enough traction and interest to attract researchers.

In general, a significant barrier to rare disease research is the cost. I was informed by Emma that historically the high price of rare disease registers has meant that they were very inaccessible to small charities. For PIP-UK, Rare Central (a rare disease platform), has become available to them, and excitingly, PIP-UK’s Global Poland Syndrome Community Register is launching this month, which will provide the first opportunity of its kind to gather real-life data from people with Poland Syndrome on a large scale (6). Implementation of these digital platforms provides an opportunity for active patient involvement in research, and can provide a way for patients to feel more connected to other people with the same condition. Emma hopes that it will be a tool for patients, healthcare professionals and research scientists alike, both as a reference source when counselling patients, and as a means of expediting research into Poland Syndrome and facilitating patient involvement.

‘You don’t die of Poland Syndrome’

Emma also explained to me that many patients with Poland Syndrome would be keen to participate in research studies. In particular, those aged 50 and above, who have made peace with their diagnosis, are interested in the long-term impacts of living with this rare disease. Some people with Poland Syndrome suffer with chronic neck and back pain, but without robust clinical evidence it is difficult to determine which symptoms are unequivocally linked to the condition. The wider community is especially interested in whether unopposed upper back muscles (due to the absence of the pectoralis major), as well as increased strain on the rotator cuff muscles, leads to spinal conditions in later life. Unfortunately, despite patient interest in research participation – Annabel has taken part in various research studies for ME – there are few opportunities to do so with Poland Syndrome. She also explained to me that ‘you don’t die of Poland Syndrome’, meaning that there is a significant lack of interest in research due to the low associated mortality. Another issue is that as a rare disease, fewer people are affected, so there is little funding availableand less drive to carry out research.

Supporting Patient Involvement

There are a group of passionate people in the Poland Syndrome community who are keen to participate in research. Healthcare professionals can support involvement by speaking directly with the patient community to understand which areas of research need further development. Patients with rare diseases are experts in their conditions, and often we can learn far more from them than from any textbook. Emma mentioned that to engage patients in rare disease research, researchers should emphasise how this could help better the lives of other people with the condition and the patient community as a whole. It is also important to ensure that patients know exactly what the study will involve, as well as informing them what the research aims to achieve and how the results of the study will be presented.

In the case of Poland Syndrome, clinicians can help by raising an awareness and signposting patients and colleagues towards the new global register, which will help to build a better picture of the condition and facilitate future research. For people with Poland Syndrome, research is vital in determining clinical outcomes for surgery, potential genetic causes of the condition, long-term impacts for patients, and to enable the implementation of recognised treatment pathways.


I’m very grateful for everyone at PIP-UK (Poland Syndrome Charity) who spoke to me about the impact of Poland Syndrome on their daily lives and for sharing their thoughts on patient involvement in rare disease research.


1. Poland Syndrome. National Organisation for Rare Diseases, Rare Disease Database https://rarediseases.org/rare-diseases/poland-syndrome/.
2. Baban, A. et al. Familial Poland anomaly revisited. Am. J. Med. Genet. Part A 158 A, 140–149 (2012).
3. Ilaria, B. et al. Experiences of patients with Poland syndrome of diagnosis and care in Italy: a pilot survey. Orphanet J. Rare Dis. 14, 269 (2019).
4. Baldelli, I. et al. Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence). Orphanet J. Rare Dis. 15, 1–17 (2020).
5. Terry, S. F., Terry, P. F., Rauen, K. A., Uitto, J. & Bercovitch, L. G. Advocacy groups as research organizations: The PXE International example. Nat. Rev. Genet. 8, 157–164 (2007).
6. PIP-UK to Celebrate Poland Syndrome Community Register Project at Annual Family Conference. Pulse Infoframe https://www.pulseinfoframe.com/2021/08/12/pip-uk-to-celebrate-poland-syndrome-community-register-project-at-annual-family-conference/ (2021).