Where do I start?
I met the most wonderful man in 1995. I’d known him since I was 11 years old so we were friends before we reconnected. I knew he was not like other men as he had a disability and coped so well you just did not notice because of his wonderful smile and can do attitude.
I fell pregnant despite all precautions! At that point, we did not know what caused his disability so we didn’t know the risks of the baby having the syndrome too. However, I’d been suffering from Cyclical Vomiting Syndrome (which is a rare syndrome and not diagnosed for me until I was 26) since I was 17 years old so falling pregnant and being violently ill with Hyperemesis at 6 weeks in was a shock.
Fast forward to the first scan and it was then we were told that the baby probably was affected but had all her fingers and no indication of the heart condition attributed to Holt Oram Syndrome (it was at this point we learned the condition had a name and we were referred to the geneticist).
It was a steep learning curve but we were not too worried as my husband, his sister and Dad had lived with the syndrome and the disability and because Rob was so positive with it we were determined to carry that on for our daughter.
The birth would have been funny if I had not been so sick – over 30 admissions to hospital in 38 weeks – in the delivery room were midwives, trainee midwives, paediatricians, a gynaecologist plus medical students who had never seen the syndrome before and since it is 1:100,000, were not likely to see it again either! There was no dignity in that room at all.
Frances was born on 18th December 1997, a healthy 6lb 13oz. Her hands were curved indicating short radius bones on both hands and her thumbs were not formed properly. At this point, nothing mattered as she was healthy. At 5am she turned blue on SCBU and I was called up. She was incubated for a 6 day period but was fine. Then followed many follow up appointments.
Her first operation was at 15 months to pollicise her left thumb making her forefinger into a workable thumb. She was amazing and took it in her stride and began dancing for physiotherapy at the age of 2. She was outgoing and very funny, and if she couldn’t do something, rather than give up she developed a stubborn resilient approach to keep trying to find a way. She endured many more operations and breaks to her arms and wrist because she was prone to fractures due to underdeveloped arms.
As she got older the weather affected the level of pain she experienced and we discovered that her radius and ulna were fused on both arms making rotating her arms and palms impossible. There were obvious skeletal issues as she grew and all clothes had to be altered to fit comfortably. We were told the small ASD (hole in the heart) had closed at birth and that she did not have the conduction issues associated with the syndrome that Rob had.
In 2001 Rob went in for an ear operation and had a collapsed mitral valve that meant he was monitored for a period of time. It was at this point that the consultant cardiologist informed him that he had conduction issues associated with Holt Oram Syndrome. He had a heart rate of 43 beats per minute and at sleeping it dropped to 30 beats per minute. However, the consultant was not concerned by this and made a passing comment about possibly needing a pacemaker at some point but he declared all was good and discharged Rob from the clinic.
Frances was overseen by a paediatrician up until the age of 16 and referred constantly to cardiologists at Bristol who, when she was experiencing dizzy and fainting spells regularly, diagnosed her with syncope and put her on steroids for 4 years. Again, we were told she had no heart issues to worry about (as was Rob when he was referred again). We later discovered that this was a misdiagnosis and it was due to the conduction issues of the syndrome which were in fact serious.
In 2013 our lives were turned upside down and devastated by the sudden death of my husband Rob. He suffered a sudden heart block and couldn’t be revived. He was 43 years old. Both myself and Frances tried in vain to revive him (she was 15). A pacemaker would have given an indication something was wrong.
Frances suffered greatly after this, her mental health was affected; she suffered PTSD and depression. She didn’t want to be here and wanted her Dad. Then in 2016 Frances was having numerous dizzy and fainting episodes which led to an admission to hospital where the doctor had to Google the syndrome and decided that she could be seen in outpatients and sent home the next morning. Thankfully she was kept on heart monitoring equipment overnight because she was sick in the night and passed out 3 times. A different consultant was on the ward the next day, knew the syndrome and kept her in. It transpired her heart had stopped 4 times in that period. It was the first time a syncope episode had been recorded. She was diagnosed with type 1 2nd degree AV heart block and a pacemaker was fitted 3 weeks later.
Frances had to stop college because she gets tired quickly and she started an apprenticeship in 2016 but had to stop this too. It has affected relationships with her peers and her schooling experience was so negative at one point that she didn’t want to go to school. No one ‘got’ her or understood the disability she lives with – including some family members. She faces discrimination, negativity and daily challenges, but remains so positive. She still dances and teaches too and is very good, she is an inspiration to all who know and love her.
Frances feels very strongly that young people do not get enough support once you transfer from paediatrics to adult services; there is less of a safety net. We would like to see better support structures for mental health for people who have rare diseases and syndromes. The teenagers and young adults have nowhere to go for support.
Knowledge is a massive issue with rare diseases and syndromes. We would go to appointments with a file of information knowing more than the doctors in many instances and GP appointments are a challenge. She was asked in 2016 ‘are you sure it’s a pacemaker you are fitted with not just a monitoring implant?’ ‘You’re too young for a pacemaker’ is often another comment. Even on the cardiac ward a worker said ‘what are you doing on here? This is a ward for poorly people!’
You can follow Frances on Instagram and Twitter at @myuniquefight as she documents life as a young female with a rare genetic condition and promotes the message to young adults/teens with rare conditions that its okay to be different.