Marfan Patient Information Day – Southampton 7th July 2018
By Ed Stilliard, Journalist
People from across the country came to a Marfan meeting in Southampton to talk about being affected by the condition. Whether they have been diagnosed with the condition, or if they have family who have it, the event was a chance to speak about, and hear from others who have, Marfan syndrome.
Organised by Sara Gangai, the Heartbeat Education Centre at the city’s general hospital hosted the free event on one of the hottest days of the year. Despite a knock-out World Cup match featuring England, about 80 people came to talk about the challenges, some of them daily hurdles, they have to cope with, due to Marfan syndrome.
People of all ages came to the event, from young teenagers to those enjoying their retirement.
After welcoming drinks (for some it had been a long journey – one family had travelled from Middlesborough to be there) – people introduced themselves to the rest of the room. Those living with Marfan syndrome spoke about their experiences as well as those who had family members with it, or who had sadly lost a loved one due to the condition.
Dr. Catherine Mercer, a genetics consultant at University Hospitals Southampton (UHS) and lead clinician for the delivery of cardiac genetics services across the south, explained what Marfan syndrome is before taking questions from the audience. Among those asking questions were parents of a young boy who had just recently been diagnosed.
Dr. Aisling Carroll, a cardiac consultant at UHS who specialises in congenital heart disease, then spoke about cardiovascular management. With life expectancy among those living with Marfan syndrome shortened due to cardiac issues, Dr Carroll spoke about how patients are monitored before and after surgery, as well as what surgical options are available to them.
After lunch Dr. Anne Child, a research clinical geneticist at St George’s University of London, spoke about the non-cardiac features of Marfan syndrome. This included pregnancy in Marfan syndrome, genetic screening, skeletal and optical issues, such as dislocated lenses and protruding or concave sternums.
Questions were also asked about other factors surrounding Marfan syndrome: travel insurance, employment, fatigue, sports, etc. For many, simply talking to others diagnosed with, or who have family diagnosed with the condition, was useful.
The audience was split up into four groups:
Teens with Marfan syndrome
Young adults (aged 20 to 40) with the condition
Adults over 40 with it
Family of those with Marfan syndrome
Marfan Trust trustee Michael Heath led the teen class: He found that because of consciousness of their appearance, teenagers can find social interaction difficult, usually due to others asking probing questions. A “shock element” when teens meet others with Marfan syndrome for the first time, can also be overwhelming. Sport and life choices were also topics of discussion.
Dr. Mercer led the young adults group: Questions about cardiac surgery dominated the discussion with some expecting intensive surgery in the near future. Those who had had cardiac surgery offered advice.
The adults over 40 group said how useful it was to meet others diagnosed with the condition and share advice on how to get the best care from healthcare professionals encountering a patient with Marfan syndrome. The adults in particular spoke about their limitations in exercise due to lung conditions or muscular/joint issues. Some suggested taking up pilates or swimming to build up strength while pulmonary rehabilitation programmes were also discussed.
The group were generally very positive with one gentleman in his 70’s saying he had never felt restricted or limited, including having had heart surgery. One lady commented that knowledge of the diagnosis had meant much more support being available for her son in school which was a different approach to when she was growing up. They also agreed that the standard of care had improved overall but education was still lacking and increasing awareness of the condition was so important for the future.
Finally, the family members group discussed sensitive issues affecting their loved ones. One mother explained her affected daughter was getting married soon and wanted to plan unaffected offspring, but couldn't face termination of pregnancy for religious reasons. Dr Child explained about preimplantation genetic diagnosis of which many such couples avail themselves, funded by the NHS through an appointment with the Regional Genetic Centre. This process involves mixing eggs and sperm from a couple, and selecting unaffected pre-embryos to place back in the womb, ensuring that the child will be unaffected.
Two unaffected parents of a Marfan syndrome child described difficulty with blame issues, until they found that their child was the first one affected in the family. Helping children cope with fatigue, finding well-fitting clothes and shoes, and benefit payments for caring for those severely affected were also discussed.
All of the participants in the groups said how pleased they were they attended the event at the beginning of July and how much they wanted to continue to share information on living with, and caring for those with, Marfan syndrome.
Thanks so much to Ed Stilliard for submitting this piece. We would also like to congratulate Ed and his lovely bride, Claudia, on their recent marriage at a Confederate Home and College in Charleston, USA. Don’t they make a fabulous looking couple! See Ed’s article about living life with Marfan syndrome here: