At just 3 years of age our daughter Annabelle was diagnosed with a very rare medical condition Vascular Ehlers-Danlos Syndrome, it is life threatening and incurable.
Despite having no family history of the genetic illness, we received the devastating diagnosis
that our daughter Annabelle, has Vascular Ehlers-Danlos Syndrome (vascular EDS) just before Christmas on 19th December 2012, after months of in-depth testing.
Vascular EDS is the most serious variation of the condition, weakening the collagen in her tissues of the body and making her prone to possible arterial or organ rupture.
A torn artery can cause internal bleeding, stroke, or shock, and is the most common cause of death in patients with this disorder. Although serious problems are rare in childhood, more than 80% of vascular EDS sufferers experience severe complications by the age of 40.
In addition to vascular EDS, Annabelle suffers from joint hypermobility which is having an effect on her small joints, she can only walk short distances before feeling tired requesting to be carried or placed into a buggy.
It is hard for our daughter to carry out even basic tasks like drawing a picture which can lead to pain and tiredness and often has to take a break. Annabelle is also very flexible with some of her small joints, her wrists which are starting to click and a sign they will probably start to dislocate in the near future.
Annabelle also suffers from rare blood disorder von Willebrands, with most children an accidental knock might only leave a slight mark but for Annabelle she comes off much worse with either excessive bleeding, deep bruising or even open trauma wounds requiring medical attention.
Her blood does not clot very easily and when factoring in the vascular EDS we have to watch her every move, not easy for anyone with a five year old that just wants to lead a normal life like any other child of her age.
We noticed as a baby Annabelle bruised very easily and without explanation. This could just be from tickling her on her chest to having finger marks and bruises on her legs when holding them whilst changing her nappy and we knew this was not normal and kept pushing the GP to have Annabelle referred for further tests.
More blood tests were carried out all of which came back clear, however the Doctors agreed it wasn’t normal to bruise so easily and referred us to the haematology team at Royal Manchester Children’s Hospital for more tests.
It was at this stage that Annabelle was diagnosed with the bleeding disorder, von Willebrand. The haematologist decided it was a good idea to refer her to a dermatologist because of previous injuries and the fact her skin was so thin.
Annabelle was then referred to the EDS Diagnostic Centre based at NHS Sheffield Hospital in the UK.
For any family it would be very difficult trying to keep yourself together knowing your baby has a medical condition especially an unknown condition yet to be diagnosed. The bruising on Annabelle is a daily occurrence and most often unexplained and it can be upsetting to witness people pre-judging in the streets or even within A&E, we knew we had to keep fighting for answers.
Unfortunately for some families the sight of these bruises would trigger the intervention of social services and possible removal of a child due to suspected child abuse.
When Annabelle was only twelve months old she had an unexplained bleed from her right eye, no trauma impact that we were aware of, the medic suggested it could be from Annabelle knocking her head on the side of her cot!
The blood seeps from her eye, covers her cheek and cot, so you can imagine how frightening it was for Sarah when she went into her bedroom to do the normal checks to witness our little girl experiencing these issues, something we expected and assumed she would grow out of.
We are fortunate to have a great medic team based at Royal Manchester Children’s Hospital (RMCH) and the support of three very special consultants; Dr Will, Consultant Haematologist, who looks after Annabelle for her Von Willebrand, Dr Clayton, Consultant Dermatologist and Prof David, Consultant Paediatrician who oversees her care for the vascular EDS.
It was Dr Clayton who suggested Annabelle could have a form of EDS and referred us for testing, our gratitude goes to him for helping us achieve an early diagnosis of vascular EDS giving our family and Annabelle the opportunity make changes and plan for the future in order to protect her as much as we possibly can.
Our advice when seeking answers to unexplained bruises/injuries is never give up, keep strong and push for answers, even if some tests come back clear, check again.
If it wasn’t for us pushing for answers we would not have been transferred to Manchester for further more in depth tests. We are lucky to have a fantastic medic team at one of the leading hospitals in the country who listened to us as parents and took our concerns on board.
We understand how rare vascular EDS is and the serious lack of knowledge within the medical profession and it is our aim going forward to educate as many medics as possible.
On 17th October 2012 at 11am prompt we arrived for our appointment at Sheffield Children’s EDS clinic to meet with Dr Sobey and her team, during our appointment they took photos of Annabelle, discussed our family history and many more details, all the time during the appointment it was hard to concentrate as Annabelle was in her usual full on hyper mode. We then waited in the reception area for a short while before being called for her skin biopsy.
Due to the size of the treatment room it was decided Jared would go in with Annabelle for her biopsy, she was in high spirits, laughing and smiling, little did she know what was about to happen.
Father and daughter held each other’s hand during the biopsy, it finally started on her upper right arm and within seconds Annabelle instantaneously squeezed Daddy’s hand so tight with tears streaming down her face.
As parent all I could say “We are so sorry for the pain but this will lead us to finding answers for you” this was heart breaking for any parent but had to be done.
This was a defining moment, as parents we knew this could be a turning point for us all and we were expecting the results from the biopsy to take around six months.
However, just over a month later some early results came through indicating that further testing was to be carried out and to expect the results from this in early January 2013, however on the 14th December 2012 we received a call from Dr Sobey’s team requesting we meet up to discuss the results.
Just five days later on Wednesday 19th December 2012, a week before Christmas we received the devastating news that confirmed our daughter has vascular EDS.