“Failure to thrive” – a phrase no parent wants to see written in their baby’s health records, but this is what Lizzie sees when she looks back at her own. She was a frail baby with multiple health problems which no doctor could make sense of – until eventually aged seven, a consultant diagnosed Noonan Syndrome.
Lizzie is in her mid-40s and most people who have only known her as an adult have no idea she has Noonan’s. She has no health issues which would mean they need to know and the only thing that gets noticed is her height as she’s only 4ft 11in tall.
Unlike most of us, she can remember learning to walk – and that’s because she was almost three, but that hasn’t stopped her from running the London Marathon and being a regular member of a running group. Here’s her inspiring story.
Lizzie’s parents Diana and Chris already had two-and-a-half-year-old Jonathan when Lizzie was born. She was later followed by Giles just over five years later. After she was born, Lizzie was taken into intensive care as she weighed under 6lbs, but she left hospital after 10 days with no apparent problems.
Mum Diana breastfed Lizzie, but she was often sick after feeding, which meant she couldn’t put on weight – or ‘thrive’ as the health professionals call it. And Dad Chris couldn’t help much either, as she wouldn’t take a bottle. He instead took on more of the household chores and looking after Jonathan whilst Diana tried to look after Lizzie. At 13 months though, she went straight to a sippy cup, which he could then help with.
Diana’s baby was definitely different from her firstborn, Jonathan. Lizzie had lots of coughs, tummy bugs, digestive problems, was red in the face, and her development was very obviously delayed compared to his. As a mum, she knew there was something to worry about and seek answers for.
Diana said: “It was stressful, worrying and frustrating. There were lots of problems but none of them were ever connected, so there were no solutions. We know now this is the nature of Noonan’s. Lizzie’s Dad was always so optimistic and positive though, so that helped when it all seemed as though we weren’t getting anywhere. ‘My Lizzie will be fine’ he would say.”
A hole in the heart
At four months old, she was diagnosed with an Atrial Septal Defect – a hole in the heart which doctors were hoping would close by itself. At seven months, catheterisation was used to check progress, but the hole still hadn’t closed as they had hoped; there were two defects found; one between the top two chambers of the heart and a smaller one between the bottom two.
At 18 months, knowing something wasn’t right, the family was invited to bring Lizzie into Westminster Children’s Hospital for a week of tests. One of the tests was to assess for learning difficulties but Diana said: “There was absolutely nothing wrong in that respect.” … and she was right! Various tasks are given and observations made. One of those is for the child to have a toy taken away to see their reaction; children with learning difficulties won’t usually make much of a fuss, but Lizzie was frantically searching for it. A medical history written by Diana a few years later and only rediscovered recently, mentioned that various possible diagnoses were suggested during these tests, but crucially no-one in the medical profession actually let Diana and Chris know what they had ruled in or out, so they were left in the dark for many years. As nothing specific was revealed, they were forced to keep returning to the doctors for help with Lizzie when she was having trouble with development.
Her milestones included: (Some met expected developmental timeframes, others didn’t)
7 weeks: Eyes focused
7.5 weeks: Smiled
4 months: Laughed
4 months: Slept through the night
7 months: Rolled front to back
11 months: Rolled back to front
12 months: Weighed 12lb, 6oz
13 months: First 2 teeth
17 months: First word – Daddy
20 months: Next 2 teeth
16 months: Crawled using forearms
22 months: Pulled herself up to standing and walked holding hands
2yr, 2m: Climbed stairs / moved from crawling to sitting
2.5yrs: Pushing toddle truck confidently and rarely off her feet, walking holding one hand
2.5yrs: Started to speak more clearly, sentences up to 6 words
2yr, 8m: Walking alone
3yrs: Talking well, clearly, complicated sentences
3yr, 2m: Potty trained, but with desperate constipation – cured with bran!
3.5yrs: All 20 teeth
3.5yrs: Weighed 2 stone
5yrs: Height was 3ft (“I looked like a toddler”)
8.5yrs: Learnt to ride a bike and swim
11yrs: Height was 4ft
Early years and school
Primary school was a time Lizzie remembers fondly; she was off with the odd cough and cold, but other than that was pretty much the same as everyone else, just a little shorter. The older children treated her as a ‘little dolly’ and the neighbours’ children treated her like a little kid because that’s what she looked like – but her outside didn’t match her inside. She may have looked like a toddler, but her brain was racing ahead academically.
By six, she was reading at a 10-year-old’s level and was in the top 10% at her school so things were much better, but there was still no explanation for the various developmental problems she had experienced since birth.
It was when she was seven that two major things happened; the diagnosis of Noonan Syndrome and open heart surgery to fix the hole between the upper chambers of her heart.
Noonan Syndrome diagnosis
Lizzie was finally referred to Great Ormond Street Hospital by her local GP surgery, where she met a consultant paediatric geneticist who knew straight away that she had Noonan’s. Just by looking at Lizzie and her notes, he was in no doubt about her diagnosis.
Diana said: “Waiting 7 years for a diagnosis was very disconcerting.” She also remembers being aggrieved that when the diagnosis finally came, it was so obvious to the consultant. After all, Noonan’s Syndrome is rare but not as rare as some other conditions.
Open heart surgery
The Noonan’s diagnosis was swiftly followed by open heart surgery, a pioneering operation in 1982 which saw Lizzie off school from June for the rest of that school year – apart from the last day of term to see her school friends. Diana encouraged Lizzie to keep up with a bit of school work while she was at home recovering from the operation, with maths and reading regularly on the agenda!
The two weeks at Westminster Hospital, particularly after the operation, were not so bad for Lizzie after all. Her cheerful personality meant she made friends and laughed a lot with medical staff and fellow patients alike. Mum was around too, as Diana stayed in London, which meant Chris had to juggle work with looking after Jonathan and toddler Giles.
Luckily, neighbours and both grandmothers pitched in to help, although Diana does remember feeling torn leaving the boys.
Life after heart surgery – a huge difference
The transformation in Lizzie following the heart operation was instant. Her skin colour quickly became normal, she stopped suffering from coughs and colds and her confidence soared.
She learnt to swim and rode a bike for the first time too, with the operation having a huge effect on her stamina. She was off to Girl Guide camps without the leaders worrying about her (or her mum too much too), and she didn’t dread sports day anymore where she had usually come last, puffed out!
Lizzie said: “The change was amazing and really opened the world up for me. Neither my parents nor I had let any of my medical problems hold me back but after my heart operation there was definitely no stopping me!”
After the diagnosis, Lizzie made several trips to Great Ormond Street to be a test case for student doctor training – they had to try and work out what genetic condition she had – and none ever guessed Noonan Syndrome.
Boarding school followed primary school and it was here that she received some mild bullying; being called a dwarf and treated younger than she was; puberty didn’t arrive until she was 15 so again, she was behind on development.
When she was 12, she joined a trial for a synthetic growth hormone run by Great Ormond Street, but as it had little effect, the daily injections were stopped after six months.
Lizzie said: “We should have seen some results but after six months we didn’t. It was daily injections that I had to go to the infirmary for each evening with the school matron. It also meant, had I been on it into my later teens that it would have been hard to do things like Guide Camp. “My school friends had fun though – they would measure me all the time to see if the injections were working!”
At 16, Lizzie was discharged from Great Ormond Street as she had no ongoing medical conditions she needed help with – and she remembers the day clearly. She said: “It was a very strange thing. Mum and I had been to London together again and after the discharge, we were a bit bereft really. It was our last appointment at Great Ormond Street. “My whole life had been hospitals, appointments and care, so it left a bit of a void. It took a while to get used to that and be OK with it!” Between the age of 7 months and 12 years old, Lizzie had been an inpatient 7 times in 3 different hospitals. Diana said: “We had spent a lot of time in hospital corridors together and became and have remained, very close.”
Her future was bright – she went to the University of East Anglia to study German and Management, before training as a bilingual PA. She worked in the corporate finance world in London as a PA at a senior level for 15 years and for the last five has worked from home as a freelance PA. She mixes her time working and being involved with community and volunteering work, including helping in a charity shop and driving the community minibus. She’s been with partner Andy for the last 17 years and lives near Colchester in Essex. Andy introduced Lizzie to skiing and they both love skiing holidays now – with no coordination problems to worry about! Neither of them wanted children but are very much involved with their nieces and nephews. Lizzie said: “I like being fun Aunty Lizzie, having the children here and doing lots of nice things!”
She sometimes thinks maybe she subconsciously didn’t want to have children in case they too had Noonan’s, but it’s not something she dwells on. She and Andy are very happy with their lives, holidays and family time.
Friends don’t know she has Noonan Syndrome
Most of her adult friends don’t know she’s got Noonan’s, which Lizzie explains: “When I was a child, I was ‘the kid with something wrong’ and therefore couldn’t control all the interest in my health. Now I’m an adult, no-one needs to know about my medical history so I regain the control of what people know about my health and the judgements that go with it.”
The only time it crossed her mind was when she wanted to run the London Marathon in 2002 – she checked with the doctor first, who just told her to pace herself and not go too mad with her training; the same advice as for most people, she thought.
These days, Lizzie enjoys being active –weekly Park Runs are on her diary, as is another twice weekly running group and swimming too.
In autumn 2019 she ran a half marathon, has a couple more scheduled in 2020 and hasn’t ruled out running the full marathon distance again at some time in the future – not bad for a baby born with a hole in her heart who didn’t thrive!
The final word goes to Lizzie’s Mum: “In spite of a difficult and worrying start in life, Lizzie’s determination, optimism and lively personality have always shone through and I am immensely proud of her.”