Stories and Experiences from Patients and Families

The following stories and experiences are case studies taken from our report 'Experiences of Rare Diseases: An Insight from Patients and Families'. For the full versions, and for more patient and family stories, please download this report here.

Anna Pickering, Ehlers-Danlos Syndrome, postural orthostatic tachycardia syndrome and Raynaud’s syndrome

Anna waited over 10 years to get a diagnosis following the onset of symptoms of her conditions when she was 13. She had to have multiple tests including nerve conduction studies, MRIs, EEGs and lumbar punctures, and had to meet with numerous different consultants around the country.

“I had to go and see so many different consultants because, although they all could see there was something wrong, nobody could quite work out what it was.”

When she moved from paediatric to adult services, still without a diagnosis, things got even worse.

“Once I turned 18 everything changed. I didn’t hear anything back about my test results and there were no follow up appointments made. Frankly, nobody was interested. This was very upsetting for me as I was in so much pain and I felt I wasn’t being taken seriously anymore.”

Some of the appointments Anna went to were less than satisfactory and left her feeling upset and low.

“I managed to get a referral to a rheumatologist but he was very dismissive. He couldn’t understand why I felt so much pain and he said that there couldn’t be anything wrong with me. I felt like I was wasting his time and my confidence was at an all time low.”

After years of waiting and receiving misdiagnoses, Anna finally managed to get a referral to a Professor that specialised in her condition and was able to confirm her diagnosis.

“The elation I felt at getting answers and being taken seriously cannot be put into words!”

Craig and Gemma Mitchell, Parents of Ella who has a 6p25 chromosomal deletion

 

Ella was born in 2003 and was diagnosed with a very rare chromosomal deletion when she was 9 months old. This condition means she has severe learning and communication difficulties, hypermobile joints, a pronated right foot/ankle, a skin condition called morphoea, needs strong glasses and regular hearing tests, and can tire easily.

Ella has to go to at least 2 hospital appointments per month often having to travel to London hospitals from her home in Kent, and her parents regularly meet new doctors with little understanding of her condition.

“We have lost count of the number of times a doctor or other professional has asked us to ‘begin at the beginning’, as they try and understand Ella’s condition and the health issues associated with it. We were even once asked ‘so...why are you here?’ by a doctor!”

Ella’s parents believe that having a care management pathway or someone to act as a Care Coordinator would reduce the need to repeatedly answer the same questions and help them with accessing the services Ella needs.

“Parents of disabled children often have to fight for even the most basic services and it seems those with rare diseases have to struggle even more...parents of children with rare disorders constantly have to explain their child’s condition and justify why they need services. This is often very time-consuming and extremely frustrating and upsetting.”

Gillian Thomas, wife of Nick who has multiple myeloma

Nick was diagnosed with multiple myeloma, a rare bone marrow cancer, in Easter 2009.

There is a specific drug that is used to treat this condition but Nick had great difficulty in accessing this treatment because he and Gillian live in Wales.

“There is NO alternative drug or treatment available for patients with multiple myeloma. The drug was available on the NHS in parts of England at the time. It was not available in Wales, where we live. In England, he could have paid for it privately. In Wales we could not do so.”

The five month delay Nick experienced in accessing the drug had its repercussions, including him having six further surgical procedures, two further bone marrow biopsies and receiving intravenous antibiotics and intensive nursing.

“Had the original drug been available when it was needed none of this additional expense to the NHS would have been incurred. I cannot describe our emotions.”

The delay also meant that Nick was unable to return to work when he had been hoping to and Nick and Gillian had to fight for benefits.

“We have battled for every penny we receive. No provision has been made for his pension contributions, putting him at further risk when the cancer returns. Nick is a Deputy Headteacher. Instead of claiming benefits for these months he should have been contributing to society.”