Marfans

[rainydogday]

Freaking out a bit as saw a consultant paediatrician today with DD age 14. Who has suggested she has Marfans. I have never heard of it before. She has has had on going chest pains and palpitations for years. I kept asking my GP why she has a strange mis-sharpened chest and rib cage, and wondered if the pain was a skeletal problem. She is 5"6 and has a longer arm span and a narrow and high pallet in her mouth. We are a tall family. My sister has scoliosis and had rods in at age 16. They also think my DD has a mild scoliosis. Don't have a clue what to expect. They said a cardic scan and possibly genetic bloods? But have read that sometimes they can't give a definite answer. Any advise appreciated. Obviously googled far too much and freaked myself out, she looks nothing like the pictures

It may be a bit late but I'd suggest stepping away from Google.
Marfan's can present in many different ways, not everyone will have everything. Wait until you have test results and speak to professionals.
Whatever the results, you daughter is still your daughter.

Unfortunately no direct Marfans experience, so can’t comment or help with that, but what I would say is make sure you get a referral to an orthopaedic spinal consultant. If scoliosis is suspected and you have family history of it, it’s really in your best interests to have it properly checked out and treated if necessary asap. If caught early enough then bracing can be used and surgery avoided. We are now facing rod surgery for DD (17) as I mistakenly ignored what we thought was just a slight curve!

It's better to find out now so that she receives appropriate monitoring and care for the rest of her life rather than something suddenly happening. As a PP said, it manifests in different ways. And she may not have it at all.

@clipclop5

Unfortunately no direct Marfans experience, so can’t comment or help with that, but what I would say is make sure you get a referral to an orthopaedic spinal consultant. If scoliosis is suspected and you have family history of it, it’s really in your best interests to have it properly checked out and treated if necessary asap. If caught early enough then bracing can be used and surgery avoided. We are now facing rod surgery for DD (17) as I mistakenly ignored what we thought was just a slight curve!

Oh so sorry to hear this. I have always checked both my DC as worried. My Sister had rod surgery at age 16 with fused ribs and borrowed bone from her pelvis! She has a beautiful posture and less back problems than the rest of us! Good to your DD

Thanks for messages. I have calmed
Down now! And yes we just need to see how it goes. If it's not they are still going to see her every 6montjs check her spine. Her spine is straight but the ribs have twisted and dented as she gets taller

@rainydogday sorry to hear this. Glad to hear you’re feeling a bit calmer. My ex-husband and some of his family have Marfan’s. It’s a really broad continuum about how badly or not badly it affects people. Plus which symptoms they have or don’t have. For example my ex was tall and had a long arm span. Unfortunately he had cardiac problems and ultimately had to have his aorta replaced. His dad had to have the same procedure but recovered well despite being in his 60’s. But it’s not a blanket thing for people with Marian’s they were just unlucky. Avoid googling as l know there are some upsetting images out there
My ex and his family were diagnosed with a spit test, they literally spat into a tube posted it off and then got the results

My daughter has Marfan Syndrome. She is 14 now and was diagnosed at 6 with a genetic blood test after years of me taking her to a GP saying I knew something was wrong, but I didn't know what. There is a very broad spectrum of how people are affected, but a diagnosis is a good thing as with that comes a good level of monitoring. Glad to hear they are on top of getting a heart scan done, it's really important to get that checked. I'm happy to have a go at answering any questions you have.

It was suggested by a pediatrician that I had marfans, I went for stomach problems which he failed to pay any interest too as got too carried away about my "height disorder"
Had some blood tests and scans and nothing ever came back as definite. I'm Early 20s now and have a few cardiac issues but nothing major and reviewed regularly. No one has mentioned marfans in ages and not sure it would lead to a different treatment etc.

@insertsomethingwitty

My daughter has Marfan Syndrome. She is 14 now and was diagnosed at 6 with a genetic blood test after years of me taking her to a GP saying I knew something was wrong, but I didn't know what. There is a very broad spectrum of how people are affected, but a diagnosis is a good thing as with that comes a good level of monitoring. Glad to hear they are on top of getting a heart scan done, it's really important to get that checked. I'm happy to have a go at answering any questions you have.

My Daughter has a strange shape rib cage, a dent one side and low on the other. The gp has always said it's just because she is skinny. Now age 14 her ribs are worse. She has a very narrow high roof of mouth. Her arm span is longer than height, but only by a bit. I am pleased they are going to do the heart scan but worried they won't do genetic bloods. I am the type of person to worry unless I have a definite answer! 😳

Don't panic. Most people who are thought to have Marfan's don't have it. Those that do have it can access excellent health care to cope with any health issues that arise. Ask your GP to refer you to your local genetics clinic who are experts in diagnosing or ruling out Marfan's.

Exactly same situation. Dd is 11 in a couple of weeks. She's 5'2, already has her period. Very long skinny face, scoliosis found on a chest X-ray last month after fainting. We've been under endocrinologist for years due to early puberty and now been referred to orthopaedics.

@rainydogday how is your dd?
I'm going through similar and have an appointment next week

Hi we are still waiting for a referral! I am going to chase it tomorrow. She still has aches and pains, mainly to do with her chest and rib cage. How long did your appointment take to come through?

Hi @rainydogday how did your appointment go?

Anyone who has been assessed, what kind of heart scan did you have?
I'm going through this and been referred for an echo scan, wondering if it should be an mri

Hi, we have got a family questionnaire now, so least we are in the system. The consultant has requested an echo and then genetic review, bloods maybe. It's taking ages because of all the covid delays etc

Good luck OP.

We have Marfans in our family and I separately have a good friend with it.

My uncle and cousin both have it - my uncle lived into his 70s and a very full and happy life. Mycousin in her 40s and still doing very well, she’s a teacher and all-around brilliant person.

My friend needed a major heart surgery in her 30s but made a full recovery and is now also in her 40s and really well.

Good diagnosis and management make such a difference these days.

@rainydogday

Freaking out a bit as saw a consultant paediatrician today with DD age 14. Who has suggested she has Marfans. I have never heard of it before. She has has had on going chest pains and palpitations for years. I kept asking my GP why she has a strange mis-sharpened chest and rib cage, and wondered if the pain was a skeletal problem. She is 5"6 and has a longer arm span and a narrow and high pallet in her mouth. We are a tall family. My sister has scoliosis and had rods in at age 16. They also think my DD has a mild scoliosis. Don't have a clue what to expect. They said a cardic scan and possibly genetic bloods? But have read that sometimes they can't give a definite answer. Any advise appreciated. Obviously googled far too much and freaked myself out, she looks nothing like the pictures

Hiya, not sure if you will see this as your post was a while ago now. I just wanted to say doctors thought I had Marian syndrome too when I was about 20. I went for all the tests and they decided I didn't have it because my heart eyes etc is ok. Also no one else in my family has any traits. I do have a lot of the characteristics of it though.

Looking for information on Marfans, and have come across this post.
How did the diagnostic process go OP?
Our dd age 12, has had a multitude of health issues since birth, under immunology, Gastro etc. It was when she got to around 9 or 10, I asked her doctors about Marfans, as she is 99% for height, has a pectus chest, hyper flexibility, feet problems, severe jaw/orthodontic issues requiring surgery, period problems which started just after turning 11…amongst other issues. She has never had her heart checked, and a basic eye exam revealed astigmatism and some minor sight issues.
Following years of no follow up in the 100’000 genome project, we booked our own gene analysis - and lo and behold, she’s got a mutation on the Fibrillin gene! So now I’m wondering where do I start with this? GP? For those who have Marfans, do heart issues usually come to light before diagnosis? Any information would be much appreciated. Thank you.

@Homez She needs reviewing by clinical genetics. If you've seen them previously (I presume this is how she was recruited to 100,000 genomes project ), give them a call. They will want to confirm the private result and arrange appropriate health care. They may ask for a gp referral but give them a ring direct first in case this isn't needed.

My family were investigated for this. They said we had some of the markers but not enough for clear diagnosis. So yes - wait for results and best to know than not know if any likely issues.

@ohdeariforgot - thank you. Having contacted her GP and the consultants who had entered her into the genome project, we have had zero response so far. GP secretary has declared it non-urgent, and offered us a January appointment next year!
We are thinking of paying to see a geneticist, but there doesn’t seem to be many out there! It just seems crazy that she is under so many different tertiary care consultants, and yet we are having to resort to pursuing this ourselves.
@AdelindSchade - did your investigations include any genetics? Just wondering if having confirmed genetics would impact diagnosis in any way. I know the official criteria include a combination of major / minor findings, and genetics are obviously much more accessible these days. Would be interesting to know. Thank you

We went to the genetics clinic but they only did physical tests and examinations. They didn't test our genes or anything but this was some years ago now.