Annabelle's Journey

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Searching for answers

Annabelle was born 3 weeks premature, on 25th February 2009 weighing 6lb 5oz. We noticed as a baby Annabelle bruised very easily and without explanation, this would occur just from simply tickling her on her chest to the upsetting sight of her having finger marks and bruises on her legs when holding them whilst changing her nappy.

For any family it would be very difficult trying to keep yourself together knowing your baby has some sort of medical condition especially an unknown condition yet to be diagnosed.

The bruising on Annabelle was now a daily occurrence and most often spontaneous, we also had the added pressure and upset witnessing people pre-judging us, even within the A&E department, 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, this is something to be very aware of, so kept a diary and lots of photo's just in case.

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 consultant suggested it could be from Annabelle knocking her head on the side of her cot! The blood seeped from her eye, covered her cheek and cot, so you can imagine how frightening it was for us as parents when we 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 eventually.

Our two eldest sons never had issues like this which made us more determined to push our GP to have Annabelle referred for tests. The search for a diagnosis continued over the next three years with numerous hospital visits and appointments to try and find answers.

More blood tests were carried out all of which came back clear, however on one occasion the nurse was horrified that she had left her handprint on Annabelle and agreed it wasn’t normal to bruise so easily and referred us to the haematology team for more tests!

It was at this stage 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.

The Dermatologist suggested Annabelle could have a connective tissue disorder and mentioned Ehlers-Danlos and referred her to genetics in Manchester and then to the EDS National Diagnostic Service at Sheffield Children's Hospital.

Genetic Test

On 17th October 2012 at 11am prompt we arrived for our appointment at Sheffield Children’s EDS clinic, during the 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. Jared and Annabelle held each other’s hand during the biopsy, they then took the skin from her upper right arm and within seconds Annabelle instantaneously squeezed Jared's hand so tight with tears streaming down her face.

Jared said to Annabelle “We are so sorry for the pain but this will hopefully lead us to finding answers for you” this was heart breaking for any parent but had to be done.

Devastating News

This was a defining moment, as parents we knew this could be a turning point for our family. We left clinic expecting the results from the biopsy to take around six months. However, just over a month later we were notified that some early results came through indicating that further testing was to be carried out and to expect the final results in early January 2013.

Just over a week before Christmas we received a call from the genetics team to inform us the results had arrived and could we go back to Sheffield for an 'end of clinic' appointment, it was at this point we knew the news would not be good. 5 days later, on the 19th of December 2012, we attended clinic and received the devastating news that confirmed our suspicion that Annabelle had tested positive for vascular EDS.

The journey back home was surreal without a word said; however we had an answer and no more searching for a diagnosis now it has been confirmed she has vascular EDS.

Our lives had changed forever, Annabelle's Challenge had begun!

Spontaneous Pneumothorax

Sadly, Annabelle encountered her first scare due to vascular EDS on April 24th 2025 and suffered a spontaneous pneumothorax (collapsed lung). She started on Tuesday afternoon with pain in her side moving up her chest/ neck and shoulder.

Wednesday morning she woke and was struggling with pain breathing in and out, she attended the Emergency Department where all her sats (b/p, oxygen, heart rate and temp) were perfectly normal.

For the first time since we put together her VEDS Emergency Pack (red folder) it was utilised and given to the doctor, he had a good look at it and asked us to sit back in the waiting room. A few minutes later he said after speaking to his senior they have decided to do a chest X-ray just to cover all situations.

We are grateful the doctor read the contents of the VEDS Emergency Pack and consulted with his senior, a member of the ED team uploaded a copy of the ‘Emergency Information for Medical Professionals’, new hospital inpatient alert document and QR code onto Annabelle’s hospital record.

She has been on oxygen since the X-ray yesterday and today having another X-ray confirming it hadn’t got worse. Annabelle will be discharged to go home for remote electronic monitoring from the hospital with ‘care at home’ service, in the event she deteriorates Annabelle will have direct access to the respiratory team without having to go through triage and the ED again.

We are pleased to confirm Annabelle fully recovered without any invasive intervention.