What is Ehlers-Danlos Syndrome?
Ehlers-Danlos Syndrome is a debilitating illness which affects joints and ligaments. It is a genetic condition which affects around 1:5,000 worldwide, however the more rare forms of the illness can affect as few as 1:250,000. There are 6 “types” of the illness with variations within each subtype. Treatments for Ehlers-Danlos Syndrome vary with research edging into the fields of stem cell technology. While treatments for Ehlers-Danlos Syndrome may be found within stem cell research it is likely that they will only be for symptomatic issues rather than a direct treatment for the illness itself due to the genetic nature of it.
One illness which can be treated directly with stem cells is Cerebral Palsy. Advancements of treatment for cerebral palsy with stem cells have accelerated tremendously in recent years with reports of one toddler having received stem cell treatment being transformed from a vegetative state to being able to sit, walk and even speak in small sentences within 4 months of the treatment. Cerebral Palsy affects 1 in 400 children in the UK and can be caused by lack of oxygen to the brain. A cure for cerebral palsy has yet to be found but the preliminary reports of stem cell therapy have been incredibly promising.
Stem cells are currently at the cutting edge of medicine. Scientists and researchers all over the globe are making discoveries on what seems to be a daily basis. Discoveries range from different types of stem cells being discovered to new treatments for illnesses like cerebral palsy. One of the discoveries made in recent years is that umbilical cord blood is the richest and least invasive source of stem cells. With endless reports of stem cell discoveries being reported in the media it comes as little surprise that parents around the world, armed with this new-found knowledge, are increasingly keen to bank their baby’s umbilical cord blood.
Jamie Branston, 24, decided to bank the cord blood of her 5th child having discovered the benefits it may hold for the future health of her family. Ehlers-Danlos Syndrome is common in Miss Branston’s family and she wanted to bank her child’s cord blood in case any future developments resulted in a treatment being found. Miss Branston approached Cells4Life who decided to offer her an altruistic service. Her decision was based upon the fact that not only would the charity only store cord blood for public use, but they would not store the cord blood of a premature baby and Miss Branston had a history of premature birth. Unfortunately the hospital Miss Branston gave birth at blocked the cord blood storage due to the hospital’s affiliation with a charity. Miss Branston was group B Strep positive which meant that her care providers strongly recommended a hospital birth so that she could receive antibiotics during labour.
Miss Branston went into labour 5 weeks early. The delivery ward was incredibly busy, the hospital took the decision to leave her on the labour ward for over 48 hours until a bed became available for her, even though she had tested positive for Group B Strep. The hospital failed to transfer Miss Branston to a neighbouring hospital and only decided to intervene when she developed a high fever, her baby became distressed and she began to discharge puss. Her labour was slow and difficult, subsequently her son was deprived of oxygen and had to spend time in neonatal care where Miss Branston was advised that her son may later be diagnosed with cerebral palsy. For the first few days of his life, Miss Branston’s son presented with a green umbilical cord indicative of infection. Unfortunately the hospital’s politics meant that she was unable to store the baby’s cord blood as the hospital and charity would only allow the blood to be stored for public use. Nor would they allow a private cord blood bank to collect cord blood from the hospital, even for altruistic purposes when a debilitating genetic condition runs in the family. The politics of both the hospital and the charity operating within it have denied the Branston family access to the only potential source of cord blood should the baby need it. In the case of the Branston family, politics were the main consideration when the charity and hospital blocked Miss Branston’s right to store her baby’s cord blood, not the future health of her family. Politics should always be secondary to the health and wellbeing of patients. Added to that fact that the charity would not accept blood from a premature baby, Miss Branston’s umbilical cord blood was disposed of. This has denied her and her family the opportunity to access the cord blood for future treatments of Ehlers-Danlos Syndrome, something which they were prepared for but also has denied her son the opportunity of stem cell treatment for cerebral palsy should he be diagnosed in the future, something which they hadn’t considered while discussing stem cell storage. Unfortunately, Miss Branston will not know what affects her labour has had on her son for some time, with a diagnosis of cerebral palsy taking up to 12 months. Since giving birth, Miss Branston, herself, has been diagnosed with Ehlers-Danlos Syndrome.
There are several varieties of Ehlers-Danlos Syndrome. The odds of having the more rare varieties of the illness could be up to 1:250,000. It is incredibly difficult to estimate the exact numbers of people suffering from Ehlers-Danlos Syndrome but the projected worldwide figure is considered to be 1:5,000.
The future health of Miss Branston’s family remains unknown but they have been denied the security net that stem cell storage would have provided them. Miss Branston said “Stem cell storage was important to our family because of the rare and debilitating illness with which many of us suffer. While I understand that cord blood storage would not offer a cure due to the genetic nature of EDS, I hoped that future discoveries in stem cell research may hold the key to making life easier for the people I love dearly. If you add to that the fact that Kyle may suffer from Cerebral Palsy, then the once in a lifetime opportunity which I was denied to store my baby’s cord blood, then this has dealt a bitter blow to my family. It is an opportunity we will never again receive and I feel utterly let down by Leicester Royal Infirmary. With hindsight I can see that storing Kyle’s cord blood would have afforded us the opportunity to be prepared for not only existing health conditions in the family but also those which were completely unexpected.”
Find out more about Ehlers-Danlos Syndrome here.