This documentary tells the incredible story of Jim Costello. Jim suffers from a rare autosomal dominant genetic disorder called ‘Gorlin syndrome’, which causes the extensive formation of basal cell carcinomas (a type of skin cancer) and jaw cysts. One of the unfortunate consequences of this syndrome is the subsequent deformed appearance of the individual, which can lead the patient feeling isolated. Furthermore because Gorlin syndrome has a wide range of symptoms it is often misdiagnosed and treated inappropriately. In response to these factors, Jim embarks on a journey across the Atlantic in his quest to set up a support group to help bring together and educate scientists, doctors and sufferers. Jim reflects on how the disease has affected him and his family, “I could cope knowing it was just me who had it, but to realise that I’d passed this on unknowingly to my girls was pretty bad”. But, although there is no cure, there is hope that a new treatment, ‘photo dynamic therapy’ may hinder the progression of tumour formation in Jim’s two daughters, so they do not become as affected as their father (00:21:34). It is also hoped that such treatment will save the sight in Jim’s remaining eye.
The programme flags up some of the issues for younger members of the family who know that they have inherited the disease. For example, when and how do you tell a partner that you have Gorlin syndrome? If they were to have children, this would involve genetic testing which could generate a whole range of new issues to address (00:22:30). Both Jim and Margaret believe that it is important to keep their family and any one else up to date with any new developments of the syndrome, either that be the genetic understanding or treatments (00:23:13). As Jim was told “you’ve got something your father’s got” and you’ve got a 1/500000 chance of passing it on to your children, Jim reflects on how wrong they were as it is now widely known those odds are in fact 1-in-2. This section of the programme (00:23:56 to 00:28:50) provides a personal insight into how the family cope with such a disease and how much strength they gain from Jim.
One of the over-riding impressions from this episode of Bitter Inheritance is the isolation that can be experienced by people with rare genetic conditions, and the key role played by support groups (00:30:05 to 00:40:00). Even when treatments and cures are not available, being able to share your experience with others who truly understand your situation can be a huge benefit. Sadly Jim died in December 2002, but the support group he established continues to provide help to fellow sufferers and their families.
This 40 minute programme has been transmitted on 31st January 2002 (BBC2; 21:50) and 23rd June 2003 (BBC2; 23:20). Copies can be obtained from the BUFVC (TRILT identifier 0016DDEO) but please note that some of the content is unsuitable for use with school-age students and teachers are strongly encouraged to watch the episode in its entirety before deciding if clips will be suitable for use in their lesson.