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Just to let you know DS17 has been diagnosed

~FireFly~
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~FireFly~

~FireFly~

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with Marfan's Syndrome. It's a genetic connective tissue disease. His aortas are enlarged and two of his valves aren't working properly-they're prolapse.

 

We will see a geneticist and a rhuematologist next week for more details. For the rest of his life he'll be in cardiologists' and specialists' offices.

 

I don't know how to process this right now.

 

~Stephanie...asking for prayers...not sympathy, please.

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Jackie in AR

Jackie in AR

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with Marfan's Syndrome. It's a genetic connective tissue disease. His aortas are enlarged and two of his valves aren't working properly-they're prolapse.

 

We will see a geneticist and a rhuematologist next week for more details. For the rest of his life he'll be in cardiologists' and specialists' offices.

 

I don't know how to process this right now.

 

~Stephanie...asking for prayers...not sympathy, please.

 

I'll be praying, Stephanie.

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Only me

Only me

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I will definitely be praying for you. We have been going through this with my dd right now too. She's been to numerous specialists since October. She had genetic testing done in December at Children's Memorial in Chicago, which turned out negative for Marfan's but we have to followup at the Marfan clinic there in a year because there is a 10% chance of a false negative. She is going to two different orthopedic surgeons, opthamologists and cardiologists and is currently in physical therapy. They are keeping a close eye on her heart, although right now it looks ok. She's had a few new developments in her eyes within the past 2 weeks so we are keeping a very close eye on that. The orthopedic surgeon has determined that she has a connective tissue disorder but we're not sure which one at this point.

 

I'll be praying for strength for you and your son. I know it's not easy going through this.

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~FireFly~

~FireFly~

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After I sent it to her I read all the responses here and thought you'd all want to know as well.

 

***The hardest part isn't the being angry this wasn't caught earlier or "why him", it's the things that set him off - that made him cute and sweet - are the red flags that are looked for in the first place. When he was born he didn't cry - he had a squeeky lung and was on oxygen for 7 days. His ears were and still are folded at the top (like an elf-just not so pronounced) this is called "crumpled" ear. He had hernias when he was 4 - has surgery. Skin issues-eczema - was treated by a dermatologist. Always been tall and thin and has flat feet - I used to ask the ped about this is worry. He has the stretch marks on his lower back. The crowded teeth - had braces. Why didn't the doctors catch these red flag before? I'm so angry about this.

 

I just know that when we meet with the geneticist and rhuematologist they're going to tell him he cannot train in karate anymore. This is his goal - his long term goal - he was going to open his own dojo and go into business with his teacher (sensi). I hurt so badly for him. All I want to do is cry.

 

His heart is affected by this syndrome which is the most fatal part. His aorta is enlarged and two of his valves prolasped. Eventually he'll have to have open heart surgery.

 

Marfan's sometimes just affects the eyes or back (the dura) and sometimes all parts of the body where there is connective tissue.

 

And then, to top it all off...my dh and ds15 have definent signs of the same Marfan's syndrome.

 

I guess we'll all be screened?

 

I'll keep you in the know, okay? Thanks for listening.

 

~Stephanie***

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~FireFly~

~FireFly~

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what/how sis they test? I know it's a test of the blood, but did they do any others.

 

We actually do not have an app't until April 28th. So, untill then we just wait. On hold. I'm not even sure what to do with our time.

 

I'm so sorry for you guys. I know how scary this is for you.

 

We'll be praying for you as well.

 

~Stephanie (FireFly)

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~FireFly~

~FireFly~

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what/how did they test? I know it's a test of the blood, but did they do any others.

 

We actually do not have an app't until April 28th. So, untill then we just wait. On hold. I'm not even sure what to do with our time. I was hoping we'd get in sooner.

 

I'm so sorry for you guys. I know how scary this is for you.

 

We'll be praying for you as well.

 

~Stephanie (FireFly)

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Karen sn

Karen sn

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It's actually more common than people know.

I think Abe Lincoln had it.

A dear friend's daughter has it - she is tall and thin, takes heart meds, has a weird reflection of light in her eye - but otherwise lives a pretty normal life.

 

I guess it really is a problem when it is NOT diagnosed. Several athletes have died from it because their aorta burst while in practice or a game - but most people do not achieve that level of physical exertion in daily life and so do not have serious consequences.

From my understanding of it - which is limited and only through Brandi - a very normal life is possible. You just can't run marathons.

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Copswife

Copswife

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How did you get a diagnosis?

 

We are in a similar situation with our 13 y/o son. They measured his aorta; it was large but still fell in the normal range. We go back soon to remeasure.

 

Ben is 6 ft. 1 at age 13 1/3. He has stretch marks all over his lower back. Long arms, HUGE hands, long fingers, big feet, super crowded teeth, high roof of mouth, scoliosis, etc.

 

They won't say he has it or that he doesn't. Monday I'm going to call the genetic specialist because no one seems concerned except me.

 

I will pray for you. Pray that we get an answer. I am getting Marfan info in the mail. Here is a link for you to sign up if you haven't already.

 

http://www.marfan.org/nmf/index.jsp

 

Blessings,

 

Tracie :grouphug:

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Janet in WA

Janet in WA

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Why didn't the doctors catch these red flag before? I'm so angry about this.
My dh's niece has Marfan's, but I still don't know that much about it. Can you help me understand something about why you are so angry? Would your son's last 17 years have been better if doctors had diagnosed Marfan's earlier?

 

I know that some sufferers die tragically young from the undetected coronary abnormalities of Marfan's. Is your anger because this might have happened to your son? Or could something have been done if Marfan's had been diagnosed earlier to correct those problems -- but now it's too late?

 

If my question seems insensitive, I apologize. I'm praying for you and your family.

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Only me

Only me

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It was a blood test and tested for Marfan Syndrome. Apparently there can be false negatives but it came up positive we would have known dd had it for sure. Because it came up negative and she has several characteristics we still have to followup next year for another echocardiogram, etc. At that time they might test her for other connective tissue disorders.

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  • 4 weeks later...
~FireFly~

~FireFly~

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We met with the cardiologist again. She said that he can continue with karate training and such, that his heart is being affected mildly at this point, and he'll have another echocardiogram next year. That was somewhat good news for us in that she wasn't overly concerned with his heart health.

 

We will meet the geneticist on the 28th, at which point we'll schedule appt's with specialists. I'm sure they'll wnat to check out his eyes and whatevers.

 

His attitude is up and he's back at karate which is a plus for him, so, now we wait, read and learn some more.

 

I'll up date again later when I have more to say.

 

Thank you all for your prayers.

 

~Stephanie

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~FireFly~

~FireFly~

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We met with the cardiologist again. She said that he can continue with karate training and such, that his heart is being affected mildly at this point, and he'll have another echocardiogram next year. That was somewhat good news for us in that she wasn't overly concerned with his heart health.

 

We will meet the geneticist on the 28th, at which point we'll schedule appt's with specialists. I'm sure they'll wnat to check out his eyes and whatevers.

 

His attitude is up and he's back at karate which is a plus for him, so, now we wait, read and learn some more.

 

I'll up date again later when I have more to say.

 

Thank you all for your prayers.

 

~Stephanie

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Only me

Only me

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That's great that he can continue with sports. I think that is a biggie. When they first were starting the workup for dd they didn't want her to do any physical activity until they did more workup. I think it is a great sign that his heart is only mildly affected. I know that it has been difficult for you but even a little good news is wonderful.

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Lady Katherine

Lady Katherine

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Ouch. I know what a kick in the gut it is to get a diagnosis of a chronic illness in your child -- it took me a full year to emotionally process my 13yo ds's dx of juvenile diabetes. So I'll be praying from a heart that understands just a little of the emotions you're experiencing! :sad: :angry: :cursing: :banghead: :thumbdown: :001_unsure:

 

:grouphug:

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