Plain English Summary of PIP-UK Medical Symposium
Wednesday 7th June 2023
Plan Early Treatment for Children with Poland Syndrome
This first in a planned series of medical symposia organised by PIP-UK was held on Zoom on 7th June 2023. A panel of medical experts from the UK and Italy were introduced by PIP-UK trustee Prof Peter Bannister.
Dr Andrea Jester – Birmingham General Hospital
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?
The symposium was fast-paced and highly technical with many slides, including pictures of PS patients and surgery.
First to make her presentation was Dr Andrea Jester who leads a Multi-Disciplinary Team (MDT – paediatricians, hand and limb 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 linked conditions including shoulder, facial and kidney conditions. Hand surgery is carried out within 12-18 months of age and is aimed at improving both functional and cosmetic outcomes, without scars on the back of the hand. She said that the timing of chest surgery was potentially contentious. The preferred practice at Birmingham is to wait until the child is old enough to decide what they want for themselves. She also commented that there are pros and cons with early surgery and that early surgery to relocate the Latissmus dorsi from the back to the chest to replace the pectoral muscle can effect spinal growth and curvature of the spine. 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. With regard to chest surgery they prefer to correct any structural problems first using conservative or minimally invasive methods when possible, which includes use of a vacuum bell to enhance breast tissue and a medical “corset” to help maintain chest shape during growth. Their preference is that treatment should be carried out 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 arm. They hold clinics twice per week led by orthopaedic surgeons but including MDT evaluation of possible linked conditions. 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 age 6-12 months of age and aiming for complete separation of the fingers by 24-30 months. He commented that toe transfer 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 shoulder joint. Some muscles in the upper back are responsible for movement of the shoulder blade relative to the chest and others for maintaining the stability of the shoulder joint. The Latissmus dorsi muscle is involved in stabilising the spine and breathing and is crucial for using crutches.
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 muscle relocation 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 linked conditions, but kidney 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. Artificial arms are offered including functional devices, but are rarely accepted. Chest surgery is carried out to restore both form and function. He feels that appearance in movement of the hand and arm is more important for boys than “looking good in a photograph”. Relocation of part of the Latissmus dorsi muscle are carried out 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.
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. 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.
You can still watch the replay by submitting your email address here and a link and password will be sent to you.
**Please note, the event was aimed at medical professionals to improve knowledge & treatment of Poland Syndrome, so it does contain some images of surgery that some of our community may find upsetting.**