A synopsis of our medical symposium for medical professionals

This first in a planned series of medical symposia organised by PIP-UK was held on Zoom on 7th June 2023. A panel of clinicians from the UK and Italy were introduced by PIP-UK trustee Prof Peter Bannister.

Dr Andrea Jester – Birmingham Women’s and Children’s NHS Foundation Trust

Prof Andrew Hart – Royal Childrens Hospital (Glasgow Royal Infirmary)

Dr Kim Daybell – NHS Junior Doctor and PIP-UK Ambassador

Dr Sondra Butterworth – Community Health Psychologist, RareQol

Prof Michele Torre – Gaslini Children’s Hospital, Genoa

Dr Nunzio Catena – Gaslini Children’s Hospital, Genoa

Prof Llaria Baldelli – University of Genoa

Prof Laura Mori – University of Genoa

The 6 speakers were asked to address the following questions during their presentation:-

• Do you have a specialist clinic where you see patients with Poland Syndrome?
• Are you screening for co-morbidities e.g. Moebius Syndrome, renal conditions?
• What is your practice for hand surgery?
• What is your practise for chest surgery?
• Do you operate a registry?

Prof Peter Bannister welcomed everyone on behalf of PIP-UK and set the scene for the presentations and Q&A session.

First to make her presentation was Dr Andrea Jester who leads a Multi-Disciplinary Team (MDT – paediatricians, orthopaedic surgeons) who hold 4-6 clinics per year seeing five patients with Poland Syndrome (PS) per clinic who are referred from across the country. They screen for comorbidities including dextrocardia, shoulder, facial and renal conditions, using x-ray and ultrasound, and make a referral for genetics. This is all consistent with the recommendations for diagnosis published by Baldelli et al (Orphanet J of Rare Diseases, 2020, 15, 21). Hand surgery is carried out within 12-18 months of age to deepen the web spaces and is aimed at improving both functional and cosmetic outcomes, without scars on the back of the hand. She said that timing of thoracic surgery was potentially contentious. The preferred practise at Birmingham is to wait until the child is old enough, usually around puberty, to decide what they want for themselves. She also commented that there are pros and cons with early reconstructive surgery to relocate the Latissmus dorsi from the back to the chest to replace the pectoral muscle(s)  as this can affect spinal growth and potentially lead to scoliosis. Their clinic maintains a Registry based on medical records not a questionnaire.

Next to speak was Prof Michele Torre who leads another MDT in the Gaslini Children’s Hospital who have seen 1,200 patients with PS over 20 years. Their clinics are usually held over 1 or 2 days so that patients and parents have time with all of the different specialists. He outlined the TBN (Thorax – Breast – Nipple areolar complex) classification system (Romanini et al,  Plast Reconstr Surg.,  2016, 138, 50; and Seminars in Ped Surg., 2018, 27, 189) for diagnosis of anomalies associated with PS and guiding surgical decision-making. With regard to chest surgery they prefer to correct any structural problems first using conservative or minimally invasive methods when possible, which can include use of a vacuum bell to suck up the thoracic tissue and a medical “corset” to treat pectus carinatum. They have now abandoned surgery to reconstruct the chest using the Latissmus dorsi. Their preference is that plastic surgery should be carried out on a stable musculo-skeletal structure in small steps during puberty rather than one surgical intervention. They maintain a register in conjunction with the Italian Association for Poland Syndrome charity, together with a separate database of medical records.

Dr Nunzio Catena works alongside Prof Torre and specialises in surgery of the hand and limb. They hold clinics twice per week led by orthopaedic surgeons but including MDT evaluation of possible co-morbidities. They have experience of treating more than 250 children with PS. Depending on the severity of the hand problems they carry out first steps at 6-12 months of age and aim for complete separation of the fingers by 24-30 months. He commented that microvascular toe transplantation was feasible but “little accepted by Italian parents”.

Prof Laura Mori’s presentation was about the impact of potential muscle abnormalities (in addition to missing/reduced pectoral muscle) on function of the glenohumeral joint. Several muscle groups in the upper back, chest and arm are involved, both agonist and antagonist, and may be abnormal in PS patients. Specifically she referred to the scapulothoracic, scapulohumeral and the thoracohumeral muscle groups. Any small changes in coordination in the scapulothoracic group can cause movement dysfunction and pain in other areas e.g. the neck. The scapulohumeral group function to maintain the stability of the glenohumeral joint and any imbalance can cause destabilisation. The Latissmus dorsi muscle is a member of the thoracohumeral group and is involved in stabilising the spine and breathing and is crucial for using crutches. She referred to a paper published online this year (Vincent and Hohman, 2023, in StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; Mar 1 2023) which reviewed the practice of reconstructive surgery using  a Latissmus dorsi myocutaneous flap. They commented that the use of this procedure in children could result scoliosis, thoracic asymmetry and could adversely influence the functionality of the glenohumeral joint

Prof Llari Baldelli is also a researcher at the University of Genoa and she described the process of referral of PS patients through regional centres and then onwards to a specialist clinic with a MDT including x-rays, genetics and physiotherapy. She also expressed the preference that treatment including surgery should be carried out “when the patient needs it” to provide functional arm and hand movements as well as aesthetic goals. Some less invasive alternatives to Latissmus dorsi flap surgery are fat transfer, skin expanders, breast implants and pectoral implants. Her pertinent conclusion was :- 

Reconstruction is part of a series of strategies that help improve quality of life. It may not be said to re-establish a “normal” condition and it is always advisable to include it in a broader path of self-acceptance.

The last presentation was from Prof Andrew Hart, who described himself as a plastic surgeon and one of an MDT with clinics at the Royal Hospital for Children in Glasgow. They do screen for comorbidities, but investigation of renal function is not done routinely as it occurs rarely in PS, and genetic referral is now standard. The aims of their treatment of PS patients are :- 

To use minimal intervention for restoration of form, function and human interaction; Promotion of independent living in an appearance- and functional-critical society.

Hand surgery to optimise function is carried out between 1-4 years of age. Prosthetics are offered, including functional devices, but are rarely accepted. Thoracic surgery is carried out to restore both form and function. He feels that dynamic cosmesis of the hand and arm is  more important for boys than static cosmesis. Minimal access, pedicled functional Latissmus dorsi flap correction is offered at 2-4 years of age with parents making an informed decision. This is before the child develops body image and long-term memory has developed minimising psycho-sexual disturbance in later life. The same surgical intervention is offered if necessary to adult patients along with fat transfer and tissue implants.

Prof Peter Bannister asked a question about how access and awareness of PS clinics could be improved and what was the role for charities in achieving improvements. First to answer was Sondra Butterworth who raised the topic of psychological support for parents who are traumatised by having a child with a rare condition, with a long diagnostic pathway and then making decisions on surgery. She commented that she is working with Sam Fillingham of PiP-UK to try and get funding for this type of support. Andrew Hart responded that he thought that this was needed because PS is an almost unique condition combining effects on both chest and hand and corrective surgery at a young age is a difficult decision for parents. He also commented that in his experience most of his PS patients would probably function equally effectively without any hand surgery.

Kim Daybell described himself as a strong advocate for MDTs in best practice and his own experience of living with PS after hand surgery at 1 year old. From a young age he was in an elite athlete programme and had the support of a type of MDT with  physiotherapists, psychologists and sports doctors. He also spoke about the role of PiP-UK in supporting parents through focus groups and support groups. He added that PiP-UK had an important role to play in promoting access to multidisciplinary treatment of PS patients. 

Prof Michele Torre said that securing psychological support was also difficult in Italy because there were few psychologists in salaried positions compared to other disciplines. He felt that charities could bring pressure on health services to change this situation.

Prof Peter Bannister closed the symposium with thanks to all of the panel members and promised future focussed topics e.g. Multi-disciplinary teams, hand surgery and chest surgery.

PIP UK teamed up with one of its Ambassadors, Lewis Hatchett, to create ‘Living Well with Poland Syndrome,’ a free 6-week programme that focuses on the use of expressive writing and group work to promote the mental health of young people with Poland Syndrome aged 16 to 25. Lewis Hatchett, a 32-year-old former cricket player with Poland Syndrome, which manifests as a missing right pectoral muscle and two ribs, led the programme. Lewis progressed through the ranks of cricket, despite being instructed from birth that he should avoid contact sports, taking an amazing 102 wickets in 53 first-team outings across all leagues (ESPN, 2022). Lewis now hopes to show youth with Poland Syndrome that they, too, are capable of extraordinary feats, hoping to “reframe negative experiences”, and come to realise that the story these young people with Poland Syndrome have been telling themselves is coming from a negative inner voice by sharing their story in the MindStrong journal (PIP-UK Charity, 2021). Lewis hopes that by doing so, the positive inner voice would be able to emerge and shine through. The programme includes a variety of interesting exercises such as prompt and response sections, vision boards, and spider diagrams, all of which encourage meaningful expression. The first week focused on building confidence and community, the second week on understanding and building on your strengths, the third week on developing techniques to cope with mental health struggles, the fourth week on training techniques with Poland Syndrome, the fifth week on grounding techniques, and the sixth week on reinforcing all of the techniques learned throughout the programme. Overall, the goal of this programme was to provide these young people with Poland Syndrome with a toolkit of strategies and abilities to assist them learn to ‘live well’ with Poland Syndrome by following the structure provided. Journaling was used as an effective tool throughout this programme, as it provides a safe and private outlet for expressing these thoughts and feelings- and has been found in studies to help reduce symptoms linked with traumatic, emotional, or stressful experiences, such as receiving a rare disease diagnosis and dealing with the obstacles that come with living with a rare disease. Writing about these experiences has been demonstrated to promote the psychological health of both clinical and non-clinical groups (Baikie & Wilhelm, 2005).

Those who participated in the programme took both an opening and closing survey which allowed improvements to be tracked over the course of the six weeks, with participants reporting an average 13 percent improvement in life satisfaction, 6 percent rise in happiness, 17 percent decrease in anxiety, and an astounding 24 percent increase in a sense of ‘worthwhile-ness’ for their day-to-day activities by the end of the programme. These findings clearly demonstrate that PIP UK’s MindStrong collaboration can dramatically improve the mental health of young participants—and the programme also had a major impact on youth self-esteem too!

The young participants reported a 17 percent decrease in their desire to have greater self-respect, indicating that their self-respect had improved since they began the programme! Furthermore, participants’ inclination to have a positive attitude toward themselves increased by 23 percent, and their satisfaction with themselves increased by 9 percent. These findings demonstrate the powerful influence that journaling programmes can have on teenagers and young adults with rare diseases such as Poland Syndrome. Polina reported on her experience with the Living Well with Poland Syndrome programme within her blog, saying that “during this course I heard useful things, I even felt that my ideas were being heard,” and that she now doesn’t wear her prosthesis, feeling “better than ever before” (mhamer, 2022).

Overall, it appears that the Living Well with Poland Syndrome programme helped younger people with Poland syndrome change their perspectives on life and themselves. PIP UK would like to continue working in the future to promote the mental health of persons born with Poland Syndrome, based on the success of this programme.