Chris's Story

When an overheard conversation saves a life. Life is a game of chance, they say. But should health hinge on the luck of the draw, on chance awareness? One father thinks emphatically not. He wrote to our helpline with the story of his daughter whose life was saved by a chance remark: “A child’s life should not have to balance on the chance overhearing of a conversation about a strange-sounding condition called “Marfan” some 20 years ago and the courage of a parent to raise the issue with their GP! I know that the Marfan Trust campaigns tirelessly for awareness of the condition but I wanted to share our story as an illustration of the fact that there’s still a very long way to go to ensure that medical professionals are educated about the syndrome.”

Dear Marfan Trust,

Following my daughter’s diagnosis in 2019 (at the age of 12), I wanted to share our experience and how it highlights a complete total and utter lack of knowledge about the condition in the wider medical community. My daughter’s now under the excellent care of St. Thomas’ hospital, where we’re due to discuss a planned PEARS aortic wrap later this year (her condition having been diagnosed just in the nick of time). However, if it hadn’t been for me raising a concern with her GP a couple of years ago, she would have gone completely undiagnosed - with probable dreadful future consequences given the current dilation of her rising aorta. I know for certain that if the wider medical community and GPs in particular, were more familiar with the condition then it would never had fallen to me (based upon nothing more than a chance awareness of the condition - having coincidentally overheard a conversation on the subject at work many years ago!) to have raised the matter with our GP.

Knowing what I now know, I can pick someone with obvious Marfan features out in a crowd at 100 paces - so I have no idea how not one medical professional, at any stage (across several EU countries) mentioned anything to us re. the possibility of our daughter having the condition (at nearly 15, she’s now a shade under 6’ tall, with long and slender limbs, long and delicate fingers).

She was born a very long baby with long and gangly legs - being our first child we didn’t consider this in any way unusual - she was just our beautiful new baby daughter! I remember meeting up with other parents from our NCT class at the home of the midwife who had run the classes and a photo being taken of all the new babies together. Our daughter’s legs were twice as long as every other baby there and I remember us laughing about it! We didn’t know anything was wrong, why would we, the hospital said nothing when she was born and the midwife (present at the gathering) didn’t mention anything either?

She remained in the 99th centile on all height charts for babies and children. Two years later, her baby brother was born. We were immediately worried - here was a baby with seemingly unnaturally short legs - and we raised the question with the post-natal home-helper (not a nurse, but a woman who had probably helped a thousand new mothers)) who was assigned to us. In her limited English she pointed at our 2-year-old daughter with her long legs and said “not normal” and then at our son and said “normal”. That was the first (and only) time that anyone made any mention of something possible being awry.

When she started primary school in the UK, she caught every single bug doing the rounds at school, missing a third of her first year through sickness. She would catch a vomiting bug and be ill for days before recovering and then going back to school and repeating the process. Because of this she wasn’t eating very much and was very thin (the bones of her spine are very obvious in any case), out of concern we took her privately to see a paediatrician in Harley Street just to confirm everything was okay. We pointed out that she was very thin and a good head taller than any of her classmates and he measured her and said that she would probably be about 5’11” as an adult, but this was nothing to worry about and as within normal ranges. Despite his investigation no mention was made of the possibility of Marfan or anything else come to that.

Reassured that there was indeed nothing more than childhood sickness bugs to be worried about we put all concerns out of our minds and marvelled at how lovely and long her legs were and how tall and slim she would be - we used to say that she’ll be the next supermodel!

Various trips to our local GP ensued over the course of the next few years for various mundane ailments, where she was variously investigated and she went through the routine weighing and measuring that takes place at school. Despite being literally head and shoulders above all of her class-mates there was no murmur of anything being amiss. She also underwent a couple of routine operations at local hospitals (for an appendectomy and the removal of a skin lesion) - where again she was weighed and measured and nothing was mentioned by the various paediatricians.

When she was 12 she had a couple of fainting spells, so we took her to the GP just to make sure there was nothing wrong. In private I mentioned to the GP that she was very tall and thin and did they think that this might have anything to do with Marfan? (I know this sounds silly, but this took me a great deal of courage to ask - what type of parent looks for medical problems with their kids, particularly obscure ones such as Marfan?!) I was suffering from increasing disquiet about her height, particularly given that she comes from  relatively short stock (at 5’11’ I’m the tallest person in my immediate family), so I summoned the courage and raised it with the GP, fully expecting to be pooh-poohed. However, the GP (a very short lady who literally had to stand on a chair to measure our daughter!!) performed an initial investigation and agreed to refer her to a specialist at a local hospital from whence she was eventually referred to Guys and then to St Thomas’ where she was ultimately diagnosed as having Marfan’s syndrome (a process that took the best part of a year waiting for appointments. I know that’s not the done thing to knock the NHS, particularly at the current time, but I feel that this was an unnecessarily long period of time for a child with a suspected potentially life-threatening condition to have to wait to see a specialist).

It fell to Dr Mathur in the paediatric cardiology dept. of St. Thomas’ to impart the news about our daughter’s condition after a scan of her aorta showed it to be dilated to 4.3cm and already, at age 12, very close to the point where surgical intervention would be required. She was immediately prescribed Ibesartan in an attempt to limit any further aortic growth.

The diagnosis came as a dreadful shock and we were both devastated. I contacted the Marfan Trust at the time (and you subsequently published my letter in your periodic newsletter). Over the course of the intervening couple of years the Ibesartan has fortunately halted any expansion of our daughter’s aorta and supplemental medical investigation has ruled out any other Marfan-related issues at this time, so at this stage we count ourselves and her very lucky. Our daughter is now mid-way through studying for her GCSE’s and she’s otherwise healthy and happy with a close circle of friends (none of whom are actually aware of the condition of which their tall friend suffers) and she doesn’t feel any way out of place. She has a cardiac PEARS operation to contend with next year, but we’re hoping that she’ll not suffer too much with any other Marfan-related issues.

All of which is a long-winded way of saying that we count our lucky stars that she’s been diagnosed, that we live only a few short miles from one of the World’s leading centres for PEARS aortic wrapping and that modern medicine means that she stands every chance of living a normal life and having (if she so chooses) children who will not carry the Marfan gene.

However, I’m also incandescently angry that it took me (with no medical background other than a lay-person’s general interest in health and medicine) to summon up the courage to raise the possibility of Marfan’s syndrome with my daughter’s GP. Why did a procession of medical professional not raise the possibility with us previously when, now, it’s blatantly obvious that she has Marfan? I ask myself every day what would have happened if I hadn’t had the knowledge and courage? Would she have become one of those awful statistics of sudden unexplained childhood death? It genuinely doesn’t bear thinking about. Above all, I now blame myself as to why didn’t I raise the issue sooner.

How many other children might there be out there who are simply undiagnosed and regularly visit unwittingly ignorant GPs and paediatricians for routine check-ups? I fully appreciate that Marfan’s is a multi-faceted condition with every person perhaps suffering to a greater or lesser degree with a range of possible symptoms, but obvious symptoms such as the wrist and thumb sign, excessive height and limb length etc. surely should be incorporated into the standard childhood checks at primary school and GPs made more aware of what to look out for??

As we know, caught early and with medication such as Ibesartan combined with regular monitoring can manage the cardiac aspects of the condition and delay the requirement for surgical intervention. Whilst our daughter is incredibly fortunate to live in both a time and a place where an operation to repair her rising aorta is almost routine, I feel very strongly that if her condition had been caught earlier, she wouldn’t be facing the unwelcome prospect of major cardiac surgery before her 16th birthday.

I know that the Marfan Trust campaigns tirelessly for awareness of the condition but I wanted to share our story as an illustration of the fact that there’s still a very long way to go to ensure that medical professionals are educated about Marfan’s syndrome and the importance of early diagnosis (and not just in this country either!). A child’s life should not have to balance on the chance overhearing of a conversation about a strange-sounding condition called “Marfan” some 20 years ago and the courage of a parent to raise the issue with their GP!

That concludes our story for now.

Regards,