new(ish) Marfan drug

[jolo]

Hi there ladies, hope you all had a relaxing Easter
my DH and twin boys have Marfan Syndrome, and the specialist we see is talking about starting them on Losartan when they are about 5 (they are 3.5 now). In the trials on mice apparently it kept aorta healthy and stopped what she called the "overgrowth". DH really is very tall and has had 3 lots of heart surgey so this is great except it's quite a new drug and I think not all clinicians are prescribing it for kids.

Just wondering whether anyone out there is in a similar boat and fancied chewing it over.

am pretty sure that my mum took this at one point for high blood pressure, and don't think she had any problems/side effects from it. Can't really comment as to the issue of giving it to kids though. Good luck whatever you decide.

She may have done, it was developed for something other than marfans. I think it is regarded as a "safe drug"

That's interesting.

Marfan's is in my family. What kind of drug is Losartan?

Losatan is an Angiotensin-II receptor antagonist VVVQV - if that's helpful lol.

My dd has heart problems jolo (not Marfans) and takes ACE inhibitors which have similar characteristics to Losartan. When she first started taking them (she's 15 this year) we were told that the use of them in children was quite new. Over the years it has become commonplace to use them in paeds although that may still be off-license. Hopefully by the time your children need Losartan it will have been used more widely in children that age.

Do any of the Marfan Groups/Associations have information on the use of this drug? Are they using it in the States?

ACE-inhibitors are amazing!

Wow, someone else with marfans

My dh (39, lol) and dd (aged 5) both have marfans. At the moment, both are on beta blockers... dh is on Bisoprolol fumarate, and dd is on Propranolol.

Dh has already had aortic root and valve replacement surgery, and the hope is to keep dd's aorta stable for as long as possible with medication as her aorta was already dilating when she was 18 months old, and that's when they started her on the beta blockers.

I remember the paed. cardiologist mentioned something about possibly changing dd's medication at her last appointment, but he didn't say what they'd change it to. As she was 5 in Feb, maybe it was Losartan? The beta blockers aren't reducing her heart rate enough. If anything, she has times when her heart really races (180+ bpm), her lips go blue and she's pasty white.

Dd had an echo just the other week, and we're waiting to get feedback from that. Please can you keep us posted about how your dh and boys are doing, and I'll let you know if dd gets put on Losartan!

Thanks saggar

Hi, sorry not to reply fpr so long, can't get on Mumsnet at work!I think Losartan woirks by strengthening the aortic wall as well as lowering blood pressure.

HDeepbreath how often are the times when dd's heart races? The boys notes say "changes to their herat in accordance with Marfans" have occured but no meds as yet.

Thanks for all the reassuring replies about medication.

Hi jolo,

It seems to vary a lot. Some days, she'll be OK, and others can be quite bad. Her heart has done this even when she's been asleep and it's woken her up. She used to shout and tell me "Mummy, my tick tock's gone wrong".

I've only taken her up to A&E once with it, when it just wasn't slowing down by itself and they just said her heart's beating very fast (heaven knows how fast it would get if she wasn't on beta blockers), but as the rhythm is OK they aren't too bothered by it.

She hasn't had any really horrible reactions to beta blockers though, the initial tiredness wasn't as bad as I expected, and it wore off within a week or so of her starting to take them. This fast heart rate might be something else. They can't explain why it's happening, and I hope it's something that she just grows out of.

Yes, not something I've heard of before, although i must admit I've taken a bit of a head in the sand approach so far. Don't seem to be any easy answers do there. Which Marfan specialist do you see? We see Dr Child at St Georges in south london who is amazing and always spends half the consultation talking to dh about his symptoms which Drs are clueless about.
Sorry for late reply. We've all be laid up with viruses. Our latest is our shit GP has not been treating Dh's blood pressure correcly and looks as though he will have to have more surgery. A locum GP picked it up and corrected it. I must admit I had no idea how much this disease would control our lives!

We're in the Midlands, so we don't get to see anyone that specialises in Marfans as such. We did see a clinical geneticist before and after ds and dd were born, and although we haven't been for ages we know that we can go back when dd needs to ask questions. I have heard of Dr Child. She seems to be one of the leading Marfan doctors.

Dh and dd just see doctors in the different specialities that they need.

It's so frustrating when you realise that your doctors don't really know what they're doing, and end up doing more harm than good.

Can I just ask, does the level of interest in your sons at the hospital get to you sometimes? I found that because dd was diagnosed so early, there's always a roomful of med students that seem to come from all over the place to see her!

I hope that you're all over the virus, and that your dh is doing OK?

Yes, the boys were diagnosed at 9 months and Dr Child is at a teaching hospital so always a room full of students, it does feel very invasive. Sometimes she asks my husband to let them examine him so that they recognise marfan's in the future which is all vey well but I'm sure he doesn't want that it front to of his whole family.
We're all fine now thanks. Husband's blood pressure is being treated properly. He has only has a tiny peice of aorta over the spine left, they replaced the descending aorta 18 months ago, but that peice has dilated to 6.6 so they need to treat it pretty soon.

Do you mind me asking whether it's common to have trouble with toilet training with Marfan's? One of my twins is fine, but the other rarely has a dry day and certainly not nights and yet seems to go twice as often as his brother. The one that has the trouble also had a hernia when he was tiny and was smaller at birth so I'm wondering now whether it's do do with weak connective tissue. He's 3 and a half and trying really hard so i feel so sorry for him!

The midwife commented on dd's long, thin fingers as soon as she was born, so we had an idea then that she might have it. Both dd and ds (who is a year older) were followed up as though they both had marfans until we had the results of the genetic test when dd was around a year old.

I hope that they sort your husband's aorta out soon. My dh hadn't been for a check up for a couple of years, and he had always been OK. It was a shock to find out that it wasn't fine, and that he had to have surgery about 6 weeks later. He had no real symptoms. He'd been a bit more tired than usual, but dd was only about 6 weeks old and nobody was getting much sleep!

I don't mind you asking anything, most of the people that I know with marfans weren't diagnosed until they were much older than our children, (I know of one man who was in his 50's!) so if they had problems like this it might have been put down to other things.

Dd was a bit older than your son when she was out of nappies. Even now, it seems that she doesn't always notice (or her bladder isn't sending the right signal to her brain) if her bladder is full. That means that even now she sometimes leaks a little. If we remind her to go to the toilet quite often, it doesn't happen. She's also had a few urinary tract infections because of this.

An adult with marfans that I know pointed out that the bladder is made of connective tissue, and like everything else in marfans it can become stretchy. In people that haven't got a connective tissue disorder, it's the feeling of the bladder stretching as it fills that tells you that you need to empty it. So toilet training can be much harder.

Yes, I suppose that does make sense. The girls at Louis' nursery keep telling him off which is really upsetting him but they don't seem to take on board that he might have problems. I think he's at an age (or maybe it's his personality!) where he'll rebel by not trying at all.
Last time we were at the hospital there was a man in his 60s wo was only just showing heart symptoms who was diagnosed. He had a curved spine but no other physical symptoms really. My dh was only diagnosed when he had an emergency disection at 33, in spite of being 7 ft tall with every possible indication and having been to GP with chest pains. His parents took him to Drs about his chest when he was a child but they didn't think it was marfan. Yes, the boys had noticeably long fingers when they were born, but no other symptoms and were really quite fat which surprised me (they get that from my side of family!)
Dr Child said to expect them to have terrible writing for a bit becasue of the hypermobilty and she'll refer them to the eye hospital at 5.
We don't really know anyone else with marfan. I have ehard of friends of friends but they have never neede treatment like DH's.

Incontinence is common in connective tissue disorders. My dd has joint hypermobility syndrome and she has been on medication for incontinence in the past. The urologist told us it's the sort of thing that may reoccur later in life.

Hi again jolo and cory.

This group might be of use to both of you, if you're interested. Whilst a lot of the people on there have got marfans (or members of their family have got it), there are people with Ehlers Danlos and joint hypermobility syndrome on there as well, as the symptoms and difficulties overlap.

www.marfan-friends-world.org.uk/

I've found this brilliant for advice and support when I've needed it.

Will check it out, thanks for that

Hi, I'm very interested to read about kids who have been diagnosed with Marfan's so young. I have a DD of 10 months who has a lot of the classic features - over 90th centile in height with strikingly long fingers, kyphosis etc. but I cannot get a diagnosis confirmed. I thought marfan's was impossible to diagnose via a genetic test alone? It does not run in either of our families, and the paed said it was a case of wait and see. DD has had an echo which was inconclusive, also her eyes seem to be ok so far, but it is really frustrating waiting.. Thanks for any comments or advice.

Hi ailbhe,

75% of people with marfans have inherited marfans (like my dd). The remaining 25% of cases occur as a spontaneous genetic mutation (like my dh).

Before my dh, ds and dd had the genetic test, we were given counselling because a positive genetic diagnosis leaves no room for doubt, and can mean major problems when it comes to things like life insurance and future employment. Marfans can be difficult to diagnose, but if a genetic test isn't carried out they rely on physical characteristics, echo and eye test results... even if these things might not go wrong until much later in life.

I can fully understand your frustration, but at least your dd's doctors have carried out an echo. If marfans is suspected, they should do an echo every year, just to make sure everything is OK. Just remember that marfans is very variable, and affects people in different ways.

If you haven't already, please have a look at the link I posted above. There's a lot more information on there that you may find useful.

Hi ailbhe
My twins were diagnosed by genetic tests. DH was diagnosed before he had the genetic test, in fact they only tested him in order to match it to the boy's results. Like deepbreath I was told that a genetic test was conclusive.
When did the kyphosis appear? They did a physical test on my boys, testing whether they had a high palate and for hypermobility (they do this by moving the thumb back) but the results were inconclusive. In fact the Dr said the only thing that struck her as a marfan feature was that their eyes were slightly drawn down, she described this as an "anti-mongoloid slant", but it wasn't anything I would have noticed, still not really sure i can see it. I have found a lot of the information on the internet about Marfan's to be out of date so be careful what you read. I know it's worrying but there is a lot of optimism now about the treatment of marfans if your dd does have it.
Where do you live? There may be a specialist dept at a hospital near you.

Will you post again if you learn more?

Hi everyone

Wow, more people with Marfan on here! Wahey! Bit surprised to find this in Special Needs but then I suppose getting a separate Special Health Needs section here on MN would be a bit much

I'm a regular poster but if I posted here under my normal name then anyone who knows me in RL would finally be able to put 2+2 together as I've posted so much personal stuff on here before now! Saying that I have Marfan would be the final clue...

So NOT ashamed to have Marfan at all but just want to remain anonymous here on MN. I hope you don't mind.

Dr Child at St George's is amazing and is indeed the top doc for Marfan in the UK (if not the world?). I hate the whole being-pawed-over-by-medical-students too but I do think of it as being for the greater good...

I think I've heard about this new drug too - isn't it meant to strengthen the aorta at the same time as acting as a betablocker? Sounds ideal, really. I'm still on Bisoprolol myself though, more out of habit I suppose than anything else.

By the way, reading up about Marfan on the internet needs a massive health warning in itself You can scare yourself stupid by reading about all sorts of extreme cases - I would advise against...

Great to see that there are other Marfans on here. Sorry for such a long (anonymous) post.

Hi, I lost track of the Marfan group that deepbreath posted the website for, so posted here. I know it doesn't seem quite right on post the special needs board, however, wasn't sure where else to put it and you know peope in real life are just "he's just tall like his dad..., just lazy about going to the toilet.., looks perfectly normal..." so looking for some understanding about my worries .

Glad to hear you've been through the med student thing too!! Agree it's for the greater good.

Yes, the drug does sound ideal so fingers crossed.

I feel slightly uncomfortable when I post on this board, as it seems to be more geared towards ASD. I think it's justified though, because there's more to it than a passing concern than eg, chickenpox or headlice that you'd see on the health board. Dh would probably flip if he knew I'd posted on here (he hates to see her in her big buggy and her boots).

marfanregular, I understand why you don't want to "out" yourself. There aren't that many people with marfans, and I know that somebody, somewhere is bound to have twigged who I am.

Did any of you catch This Morning on Wednesday? There was a young child on there that possibly had marfans.

Didn't catch it, was the child on there for that reason?
Hmm. I haven't done a good job of hiding my identity, oh well.
Yes, my HD does not consider himself or the chidren to have special needs at all but I do sometimes!

Hi deepbreath, jolo,
Thanks for confirming that I can get a definite Marfan's diagnosis via a genetic test. I am reading a lot of variations on this statement on the net
"Although researchers in molecular biology are currently investigating the FBNI gene through a process called mutational analysis, it is presently not useful as a diagnostic test because there is evidence that there can be mutations in the fibrillin gene that do not produce Marfan"
but I guess from what you are saying that this statement is now out of date.
I have my first meeting with a geneticist this week, so hopefully it won't be too long before we know one way or the other.
Jolo, my DD had an obvious kyphosis since she was born (one doc tried to tell me her vertebrae were just more visible because she was so thin?? It's very clear in x-rays.
Thanks again for the help. Will let you know my diagnosis.
ailbhe