"Long delayed diagnosis and lack of specialist services"

My daughter, who is now 25 years old, had been diagnosed at 3 years of age (in another trust) with hypotonia (low muscle tone) and then around the age of 8 with health anxiety (this is the new term for hypochondria).

From as young as seven, I remember her being short of breath and saying she felt like she was going to have a heart attack. Believing what the professional staff in my then trust had told me, I believed she could feel her heart racing but thought this was because of anxiety. At one point I paid for her to have cognitive behavioural therapy to give her the skills to deal with 'anxiety'.

Over the years her stamina decreased and nothing seemed to help the 'anxiety'. She told me that sometimes she's not feeling anxious but her heart races anyway.

In December 2023 she had an episode of a raised heart rate for 6+ hours. My daughter called OOH who advised her to go to hospital. At the emergency department in CAH a doctor advised my daughter that he thought she had PoTS (Postural Orthostatic Tachycardia Syndrome).

He did what's known as the poor man's tilt test. She lay down for a few minutes with a heart monitor on her finger. She then had to stand up on the count of 3.

Whilst laying down her heart rate (HR) was around 90. The doctor advised that it needed to be 20+ raised HR within 10 seconds to confirm PoTS. She stood up on the count of 3, her HR dropped to 85 and I thought "ok it's gonna make a liar out of us here" but within 3 seconds it started to go up and before 10 seconds it was 160.

My daughter and I were relieved that she now had a clue as to what was going on. However the ED doctor informed her that he could not give her an official diagnosis as he wasn't a specialist. This led to us doing research, learning that my daughter also has hEDS (hypermobile Ehlers Danlos Syndrome) and not hypotonia.

We learnt there are no specialists in the NHS in NI. We learnt that waiting lists are very long, with routine neurology waiting list in SHSCT at 5 years.  We had to go private for 99% of what was needed. As EDS is a connective tissue disorder this affects 95% of the body. In the last 2 years my daughter has needed extensive dental care, gastroenterology, gynae and headache specialists.

It would be a miracle if SHSCT, and indeed all the other trusts in NI, could set up a proper primary care path for treatment and diagnosis. EDS UK and EDS/HSD NI provide free training.

My daughter is 25 years old and has never been able to work because of her lack of stamina. She has a degree in languages and has taught herself other languages, 10 approx. She has a lot to give in many ways but needs the right help and support.