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Need Advice Re Possible Marfan Syndrome And What To Ask The GP Please

(17 Posts)
Solo Thu 16-Oct-14 14:32:31

I'm visiting the GP tomorrow with 16yo Ds.
For a while I've suspected he might have Marfan Syndrome, but I have put it to one side as I thought I was being daft and I'm not one to drag myself or kids to the doctors with every sniffle. Or maybe it was a head in the sand thing and I didn't know enough about it.

Ds is 16.2yo, he's 6'8" now, (at 3.2yo, he was the height of a 6yo) and very very slim (skinny actually) and has many of the possible markers for Marfan, but not all of them. These include flat feet, a dip in his chest, stretch marks on his hips/thighs and a narrow angular face with under developed cheek bones. He also has a curved back which he (now) tries to rectify, but finds it difficult. There are more.
If I think about my late Dad, he was the same.

I hate going into the GP and saying "this is what I think is wrong" but I really think I have to now ~ just in case it really is MFS.
For those in the know; what questions do I put to the doctor? what should I expect from him?

I'm not a panicky person, but I'm worried. Advice and ideas are welcome.
TIA.

Musicaltheatremum Thu 16-Oct-14 16:04:55

It would be useful for you to print off the patient info leaflet about marfans from the patient.co.uk website and take it in. Explain why you think he might have it. From what you have said I would probably refer you on to cardiology for an echo and ECG and maybe a genetics referral further down the line. The important thing is to get the cardiac problems diagnosed if any.

Kundry Thu 16-Oct-14 16:18:11

Tbh, if you have a family history of Marfans and your son is 6ft 8, you will get a genetics referral straight away.

The only odd feature of your story is that if your dad had it, then you must have it too, for your son to have it. It's possible that you may not express the features as strongly. However you can't make the diagnosis from physical features as the appearance is so variable. You both need DNA testing.

Solo Thu 16-Oct-14 23:03:55

Thanks for the replies.

Musical unfortunately, I don't have a printer, so will have to leave that.

Kundry my Dad wasn't diagnosed, but the more I stare at the pictures of him, the more I see it. He could do some weird things with his fingers and thumbs and had extremely long fingers and toes, arms and legs and a back the same as my Ds has. Had he been upright, I'd put Dad at 7ft tall! and skinny! But no dx, so no official medical history. Wish Dad was here now; it would make it easier to define it.
For myself...I was just under 5'11" until I had Dc's and with each pg, I shrunk and so don't have the height. As a child/young person I was very bendy, but certainly not now and never hypermobile like Ds. Never been skin and bone skinny like Dad or Ds either, but was slim, have normal hands and feet...I don't have it. Can you be a carrier?

Solo Fri 17-Oct-14 09:42:52

Anyone elses wisdom is welcome smile

Kundry Fri 17-Oct-14 22:48:39

You can't be a carrier. The inheritance is autosomal dominant, so if you have the gene you have it and 50:50 chance of passing it to each child. So you need to ask your GP if you have it, not just your son. Please remember the most likely diagnosis is that you are a very tall family.

FWIW everyone I've seen with it had an obvious arched palate and arm span longer than height. Did your dad die from aortic dissection?

Solo Fri 17-Oct-14 23:31:16

Ok...The GP did ask me about family height and mine. He's referring Ds to see what is what, so now we just wait. Ds (and I) was hoping to be laughed out of the office, but far from it; a thorough exam and questions from Ds answered. I love my GP.

My Dad didn't die of aortic dissection, he died of cancer, but he did have emphysema. He was also 77. The thing about my Dad though was he didn't like to walk if he could ride and if he did walk, it was a slow amble so he had little stress physically.
He could also slow his own heart rate down as can my brother.

Thanks for the info Kundry smile

Kundry Sat 18-Oct-14 07:58:07

If your dad got to 77 with no heart problems related to marfans (I assume he was a smoker so smoking related problems would not count) and no eye problems, it makes marfans very unlikely.

It is great you are getting checked out and hope you get reassurance.

Solo Sat 18-Oct-14 13:57:40

I know what you are saying. Dad had cataracts for many many years before they were removed.
Wish I could post some photos of him so you could see why I think he probably did have it. Might see if I can do that actually.

Kundry Sat 18-Oct-14 16:21:38

Lens dislocation would have been a clearer sign as cataracts are very common. Without medical treatment most people with marfans died from aortic aneuryms in their 40s or 50s so it doesn't sound like your dad or you have any of the major diagnostic criteria which is a very positive sign. Hopefully the tests can put your mind at rest.

Solo Sat 18-Oct-14 16:36:50

Absolutely. I'm hoping and praying for the best. Thank you. smile

Phaedra11 Thu 23-Oct-14 22:12:57

How are you, Solo? I think DS2 (nearly 14) may have this syndrome. He has the inverted chest (Pectus excavatum) and hyper mobility in his fingers. He can do both the tests (wrist and thumb) which are supposed to indicate it (unfortunately). There is no family history but apparently one in four cases occur without it being passed down. He doesn't have the facial features or skin marking.

SoloSaysHALLOhowsyaWEEN Fri 24-Oct-14 01:03:25

Hi Phaedra smile I'm ok thanks.

Sorry to hear your thoughts on your Ds; it is worrying isn't it? Have you taken your son to the GP yet? if not, then you ought to; I wish I hadn't waited now, but at least we've got the ball rolling now...

Phaedra11 Fri 24-Oct-14 17:03:39

Hi Solo, I'm glad you sound ok but yes it is worrying.

We have a GP appointment in three weeks time and also an appointment with a neurologist regarding DS's migraines, coming up. I might mention the concave chest and spider hands (long fingers with stretchy fingers and wrists) to the neurologist too. Looking at info on the Internet, he must have some problem with his connective tissue even if not actually Marfans.

SoloSaysHALLOhowsyaWEEN Sat 25-Oct-14 12:54:59

Glad to hear you have an appointment for Ds. Not sure I could have waited for 3 weeks and I know Ds couldn't have! The instructions I got were...
"If you can get an appointment with Dr OurGP this week, then do, but if he's not available, any doctor will do" this was on a Tuesday evening and waiting for the 2, almost 3 days was quietly painful for us, but 3 weeks?!
I'm a very calm person really and even if something is really worrying me, I'm a bit like the paddling duck. You see the calm up top, but my head is all over the place. I am really worried, but I'm thinking that worry won't change anything.

Solo Wed 31-Dec-14 15:15:55

Thought I'd update you on my Ds.

We had the appointment today with a consultant. Unfortunately, he was referred to a paeds clinic and at 16, is not at an age eligible for a paediatric doctor, so a bit of a cock up there.
The consultant did see Ds though and thinks it's possible that marfans is present. Ds is being referred for a genetics consult at Guys and for his heart to be checked and also an eye specialist.
He definitely has Scoliosis. I feel dreadful about that as I've always been a bit hard on him about his (poor) posture. He's gutted.

Now we have to wait for the next phase of appointments.

Footballcrazy Thu 15-Jan-15 22:41:02

Hi people I find this really interesting. I'm a guy in my 30s diagnosed with marfan. My dad suffered it and had a heart bypass in his 30s and a hole in his back tissue. Me and my siblings all had gene tests and all sorts over the last 15 years and got diagnosed. I don't fit many of the characteristics, but have a Eco every year as it seems rife in uncles an aunts in the family but only seems to mainly affect the heart in the family, none where glasses, none double jointed, none tall and gangly Ect ect.

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