Marfan Syndrome

20205

Hello, I need some advice please, my 16 year old grandson has been diagnosed with Marfan, he has a video consultation with a heart specialist in early February, he has curvature of the spine and an indentation in his rib cage, letter received today from this specialist says he may have to wear a brace for six months or perhaps he will need surgery to insert rods into his chest, we are still reeling with the news he has this, ok, he’s very tall and thin, but never suspected anything wrong. The reason I am posting this is because the letter says her mother, my daughter is responsible for paying the 20k for surgery, this news on top of everything else is too much to bear, we don’t have that kind of money, she... my daughter has been told her current work contract will not be renewed in April so how on earth do we fund this?

Ross_Alumni

Hello @20205

Welcome to the community. 

It must be hard news to digest when it's about your grand child, I have the greatest sympathy for you. 

Hopefully in the best case scenario the surgery will be avoidable and the brace will do the trick. Although I understand why you are worried in the event that the surgery is the decision. Will the health professional give you the final say on it, even if they recommend surgery?

20205

Hi, thanks for your reply, it’s nice to know there is support out there, we are hoping that the health professionals will give us advice, but it’s early days, it only came to light recently when he dislocated his knee and the doctor at the hospital said she was sure he had Marfan, he has not been seen by any other professional, the first communication we had was this letter this morning, he gets the video call on 2nd February, but got to say the potential cost of the operation is making us all ill. I can’t believe the health service will not fund it, it’s not cosmetic, it’s life saving. 

janer1967

Hi and welcome 

Si sorry to hear the news you have had 

It doesn't seem right your daughter would have to pay for this surgery 

I would try and not worry until you have more details easier said than done I know 

20205

Thanks, I’ll try not to, I’ll let you know how we get on

20205

That’s a good idea, the letter from consultant says In no uncertain terms that if we have to go down surgical route the operation is not funded by the NHS, I can’t understand it either, it’s not cosmetic it’s a life saving operation

20205

We live in uk and have done since birth

Waylay

Hi there,

I'm no expert, but my long-term partner has Marfan's, so I know a fair amount about it. 

Are you sure that the surgery is lifesaving? Is it the cardiologist who is saying it? Most people with Marfan's have scoliosis (curvature of the spine) to varying degrees, as well as sternum differences. They're very rarely fatal. I don't know for sure, obviously, but the fact that the NHS wouldn't pay for it suggests that the issue isn't thought to be fatal. 

The biggest danger to life for people with Marfan's is aneurisms/dissections of major blood vessels, usually the aorta. That happens rarely these days because cardiologists check for signs of it regularly, and surgery can head it off. 

Again, I'm no expert! Can you find a Marfan's specialist, or get a second opinion?

20205

The thing is, he has never been formally diagnosed with Marfan, he dislocated his knee some weeks ago, the doctor at the hospital said they thought he had Marfan, now, being aware of the syndrome, we have looked up images, and he matches exactly, long fingers and toes, he’s 6’6 and only 16 years old, very thin, slight curvature of spine, and indentation to his chest, the local doctors checked his heart, which they said was ok, and took bloods, the next thing we know is he got that letter spelling out costs, he’s never been prescribed anything, never seen anyone else, no genetic consultant, or any thing else. So how come they say we have to pay for surgery well he has not had any examinations? It beggars belief. I’ve told her to call local doctor tomorrow and insist she gets to see and be examined by an expert in this field, you can imagine the stress it’s put her under, being a single mum with two children, trying to work out how it is possible to raise that kind of money

chiarieds

Hi @20205 - I just wanted to reach out to you, as myself, children & grandchildren all have a diagnosis of Ehlers-Danlos Syndrome, another connective tissue disorder, as is Marfan Syndrome.

More than disconcerting to hear your grandson might have Marfan Syndrome out of the blue must be, the important thing over all is that it has been picked up on, & therefore he will receive appropriate care.

Myself & son were diagnosed by a geneticist that specialised in connective tissue disorders, & tho we got an Ehlers-Danlos Syndrome diagnosis, he kept wondering about Marfan Syndrome looking at my son. Subsequently a rheumatologist (who also specialised in connective tissue disorders) decided to say we had marfanoid Ehlers-Danlos Syndrome, as there can be some overlap between the 2 disorders.

We both have annual echocardiograms, & see our cardiologist afterwards. As your grandson's heart is OK, this is most reassuring, but, as in our case, he should have annual echos.

May I suggest you look around the website, &/or contact the UK's Marfan Trust: https://www.marfantrust.org/

I was a member for several years. I can't see mention of the founders, having looked again at their website, but am pleased to see Dr. Anne Child, a leading geneticist in Marfan Syndrome, is still their Medical Director.

Hard tho it may be, try & take one thing at a time. It's good that he will have a video consultation with a cardiologist soon. Perhaps ask his Mum to prepare important questions she'd like answering then.

As you say, one would expect to see a geneticist/rheumatologist specialising in connective tissue disorders such as Marfans, but the cardiologist should refer him if necessary (& may be faster than going through his GP).

I also feel the same as @Waylay & feel there might have been some mis-information somewhere. Everyone, irrespective of their disorder is different, so someone with Marfan Syndrome 'might' need bracing; some 'might' need surgery to correct scoliosis, but few need surgery to correct pectus excavatum (the chest indenting inwards).

I'm dreadfully sorry about the stress yourself & daughter have been put under, which I feel should certainly not have been the case. Try the Marfan Trust, & please get back with any questions. By the way, I'm a physio (tho I haven't worked as such for a very long time). I've had Drs letters that were so incorrect, & they asked me to correct them! Please try not to worry. My best wishes to you all.

20205

Thank you so much for the information and kind words, it means a lot, we will be speaking to our doctor tomorrow and hopefully have more information and at least some sort of direction. I’m really sorry to hear of your problems and all I can say is that you must a really strong person. I will keep posting and updating.

chiarieds

Thank you @20205 - I hope you find out more soon. I'm also a Grandma as I mentioned, so know a bit how it feels. Please do post here any time, & thank you for saying you will update us all. You have to be strong, don't you, as your family matters so much, & you want the best for them? Take care.

Waylay

@20205

That letter sounds really strange... Who was it from?

20205

A cardiologist at local hospital, I don’t know why he should send it, as I said he has not as yet been officially diagnosed, we are speaking to him 2nd February, so may find out more then

Tori_Scope

Please do let us know how it goes on the 2nd @20205. I'm sure you'll be in a better position to know what your options are after you've spoken to them, and then you'll all be able to work out how to move forwards. 

Did your daughter manage to ring the doctor to ask to speak to another specialist? 

20205

She spoke to doctor on Monday and asked to be referred to Newcastle , where there is a genetics centre, the doctor said she would refer that day as an urgent case, this also  was supposed to happen in October last year, on Wednesday my daughter phoned the centre at Newcastle to see if her son had in fact been referred, Nope! Feel like we are banging our heads on a brick wall, he is getting pains in his chest, we managed to get doctor to do an ECG, that was ok so think it’s probably stress related. We called the doctor on Wednesday and asked again to be referred to Newcastle, again they said they would do that straight away, I’ve no faith in them, so I will be calling Newcastle again tomorrow to see if they have in fact made the referral. I will keep putting updates on here, thank you all for your support 

Tori_Scope

Thanks for the update, and sorry that this has been such a frustrating experience @20205. Have you been able to ring them today? 

chiarieds

Hi @20205 - If you can't get a referral to the Northern Genetics Service in Newcastle, may I suggest you try getting a referral to Dr. Anne Child, whom I mentioned above.

Please see the following for her ?contact details: https://aortainstitute.co.uk/who-we-are/meet-the-doctors/dr-anne-child/      I haven't met her, but she was kind enough to ring me & talk to me for ages on the phone several years ago. I found Drs like that a bit rare at the time, & she seemed a lovely lady. I understand if you live nearer to Newcastle that might be easier, but must admit even tho I'm in North Yorkshire, I have found it worthwhile going to London to see varying Drs.

Having just now looked at the Marfan Trust's website a little, I think Dr. Child must have relocated to Imperial Colllege, London. I think talking to someone from the Marfan Trust may be most helpful. I thought I'd leave a probably older link up, so at least you could see a bit about her. I'm sorry I can't find her new contact details, but it hasn't been for the want of trying!

There's also Gt. Ormond St.: https://www.gosh.nhs.uk/wards-and-departments/departments/clinical-specialties/inherited-cardiovascular-diseases-information-parents-and-visitors/conditions-we-treat/

I'm sorry I don't know the geneticists there now, as the one my son & I saw sadly died a few years later.

It's great you're being so proactive with your grandson. My daughter gets a bit lost off with medical stuff, & relies on me for that with her 3 children (18, 15 & 13 years old). I always say it's good I still have some uses.

20205

Saw our local doctor today and at last he has been prescribed bets blockers, he has had problems with his heart racing think, it was due to stress, he has a video appointment with heart consultant on Tuesday, so will keep you all updated

Tori_Scope

Thanks for the update @20205 I'm glad things are progressing, and I hope that the video appointment goes well! 

chiarieds

That's good to hear @20205 - my son & I suffer with low blood pressure, but our cardiologist always says at least that's protecting us, tho it comes with it's own set of problems. Sounds like his GP is taking any concerns on-board 'just in case,' tho as you say any problems may just be likely due to stress. It's not easy suddenly having a possible diagnosis of something when you're young. Hopefully you will find out more on Tuesday, & thank you for keeping us updated.