Hi, everyone. I hope you will forgive my posting this here. This is where I know people, and I just feel the need to dip into the pool of knowledge that this group shares, even though it's not directly an MG question.

My 14-year-old son is a tall, thin, and lanky fellow, with wide shoulders, a flat rib cage, very narrow hips, and loooong fingers. He goes to the cardiologist once a year because of possible Marfan, but she says she doesn't think he has it. She says he probably has some as-yet un-named genetic connective tissue disorder. His aorta measures border-line, so he has a yearly echo to make sure it doesn't stretch too far as he grows. He used to be hyper-flexible, but not so much any more.

His 17-year-old sister has a similar bone structure, but she has a diagnosis of Alagille Syndrome (mostly heart and liver), which my son doesn't seem to share. Their father is lanky, too, but the cardiologist found no signs of Marfan with him.

So, anyway, my son suddenly has weird bumps on his fingers, near, but not on, the joints. No pain or fever. I took him to the pediatrician. She knows the family history of autoimmune diseases, so she ordered these tests: CBC, ANA, ASO, CRP, and ESR. We'll have results Monday, but I know that they will be non-conclusive and non-specific.

Meanwhile, something is tugging at my mind--some connection between his lankiness and these new bumps. I keep reading the list of Ehlers-Danlos, and it doesn't fit. He hasn't had sprains or broken bones, and his skin isn't stretchy or saggy. He's healthy. Had migraines for a year or so, but they went away--he hasn't had them for about two years. I just remembered that the ophthalmologist once mentioned he had a harmless, but unusual, thing in one eye--some residual...I don't know. A piece of tissue or fiber that hadn't separated all the way.

I'm just asking: does this picture ring any bells? My first thought was rheumatoid arthritis, because of all the autoimmune diseases in my family (thyroid, MG, severe atopic eczema). If any of those numbers come back high, we'll go see a rheumatologist. But I'm worried, and I feel like there's something I'm missing. Any suggestions? Thank you, thank you.

Abby

Hi Stella,

In Ehlers Danlos syndrome you can get what are called pseudotumours and also lumps that form on the shins and bony prominences (cant remember what they are called).

Your son sounds like he has marfans habitus. Not Marfans but a marfans like body type. There are many types of EDS all of which have genetic tests apart from type 3 (hypermobility).

Ive added these links but they are aimed at hypermobility
http://hypermobility.org/hypermobili...eighton-score/
http://hypermobility.org/hypermobili...righton-score/

http://ednf.org/ this is the EDS organisation in America.

You will see from the second link about the Marfans habitus.

EDS can have a vascular form so it is very important that this is ruled out. Especially with your sons aorta.

I would ask to see a geneticist and rule EDS out completely for peace of mind.

I hope this helps Stella it must be a dreadful worry for you.

Rach

Thanks, Rach, I was hoping you would see my post. I will follow the links. Have you had a lot of sprains?

Abby

Hi ABBY,,

I did chuckle reading that!

No I didnt have a lot of sprains to be honest one or two. My main complaint from 0-13 was growing pains awful awful growing pains in my knees hips and ankles.

At age 2 and a half I had an intussception (intestine telescopes back on its self and then blocks) and I had a horrendous scar its spread really wide and was always a livid purple colour.

I had a mouthful of fillings as I have typical EDS teeth and local aneathetics dont work on me they run out too quickly so until my diagnosis the dentist was a nightmare.

I have the feet pseudo tumours and they are getting worse.

From the age of 16 onwards I starting slipping discs at the drop of a hat. I was also diagnosed with scoliosis.

Ive always had low blood pressure and had a few faints. Over the years this gradually got worse. Till 2008 when I could no longer work.

Ive dislocated my knees, hips, shoulders, fingers, toes and have to be very very careful.

Is your son dyspraxic? clumsy? EDSers (as we call ourselves) have problems knowing where our body is in space and time so I regularly fall over the coffee table end of the bed and I swear the door frames have it in for me lol!

Discalcula and dyslexia are also closely linked with EDS.

Sorry for the spelling but its 1115pm in the UK! and Im starting to get tired. Please feel free to ask anything else you can think of. Its the least I can do after everything this forum has done for me.

Rach

Abby,

I was covered in stretch marks from 10 years old despite being the correct weight for my height.

Stretch marks on calves and the base of the spine are another EDS symptom especially if there has been no significant weight gain.

Its only type 1 EDS that has the stretchy skin. EDSers dont tend to break bones we dislocate or sublux (partially dislocate) and get things like tendonitis, bursitis etc.
Rach

Thanks for all this. It's pretty reassuring to me, because my son doesn't have those symptoms. No dislocations, stretch marks, clumsiness, growing pains, learning troubles. I guess he's pretty healthy. He's more flexible than I'd realized, though. I just asked him and discovered he can still touch his thumb to his wrist.

Abby

Hi Abby,

please remember EDS is a syndrome so you may have all the symptoms or only a few. The ones Ive told you about are mainly related to EDS hypermobility and there are about 10 types known about.

I dont want to worry you but I really wouldnt rule it out until he has seen a geneticist.

Some people with EDS go through their lives with no problems at all completely unaware that they have it. Others know from birth or are like me diagnosed aged 37!

With the Marfans habitus its still work checking out and ruling out.

Rach

I just measured my son carefully, with a rigid measuring stick. He is 68 inches in height, and his arm span is 72 inches. That gives him a span/height ratio of almost 1.06, which from what I read is clinically significant. I think it's time to see a geneticist! I will ask his pediatrician for a referral. We've got some weird stuff going on in my family.

All of his labs (CBC, ANA, ASO, CRP, and ESR) came back normal. The nodules on his fingers are slowly disappearing. He is energetic as ever. He had a couple of days of unexplained foot pain, but that's gone, too.

I measured my other kids, especially the lanky ones, and none of them had much of difference in arm span and height.

Abby

I'm glad you are seeking the help of a geneticist, that's a great place to start. Remember it is hereditary so if the diagnosis is confirmed all siblings and close family members need tested as well.

Marfans like EDS affects each person differently I have one friend with it who is 6ft 9inches and has only slight problems. A friends daughter has it and she has had heart valves replaced and has problems with her eyesight.

I'm glad that I could help you.

Rach