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Marfan Syndrome & Genetic Testing

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Laura28 posted 5/11/2013 05:49 AM

Hi everyone

Was reading DragnHeart's recent posts about genetic testing for her children and thought I would post in the hope that others whose children have this condition might see mine.

BIG HUGS DragnHeart.

About 1 in 5000 have Marfan Syndrome so I guess the likelihood is small that anyone on SI can relate but doesn't hurt to ask.

My DS (22) is 6'6" and it looks like he has it. We saw the specialist on Friday and his aorta is now at 42mm. DD's (26) aorta has been stable at 29mm since 2009 so good news there.

The specialist is advising against genetic testing at this time for a whole heap of reasons including because it is very expensive and often not conclusive. He is advising waiting a while until the recent losartan trials are finalised and testing processes improve.

Anyone out there with experience? Would love to get in touch.

Infidelity is shit but when your kids have a life threatening illness it is so much harder.

HUGS to all with sick children

Laura

Amazonia posted 5/11/2013 05:56 AM

A good friend of mine has Marfan. He has not had a good time of it, unfortunately. His twin brother passed because of it several years ago. He has a heart or lung condition (? I forget the details) and has recently had three or four surgeries for detached/detaching retina with limited success.

His wife is also my friend, and it's hard watching her post the updates (he can't use a computer because of the surgeries/recovery). She remains, I don't know how, one of the most upbeat and positive people I know. Grace of God, I guess.

I will ask her if there are support groups out there like SI. If so, I'll pass that info along to you ASAP.

(((Laura)))

Laura28 posted 5/11/2013 06:11 AM

Hi Amazonia

Thanks so much honey - I am amazed at the support of this community. BIG HUGS to you for your prompt reply.

DS has had both lungs collapse and surgery to hold them up. (2007 and 2010 - 2 months before dday!!! )

Both DS and DD have scoliosis, severe short sightedness, joint hypermobility etc. Fortunately no retina detachment as yet.

Thanks for the suggestion re support groups. To be honest I think I am coping better being a little being in denial about the Marfan - When I found out about the Marfan in 2007 my world fell apart. After trying to deal with this the discovery of the infidelity in 2010 nearly killed me. I realised I needed to hold it together for the children. So I suppose one of the main reasons I have chosen to stay with FWH is because of the kids and the Marfan. I'll take whatever support I can get - even from him.

We see the specialist each year who is an aussie expert so I have faith in him.

Saw him on yesterday so I guess I am a little down.

Thanks sweetie

Laura

Gottagetthrough posted 5/11/2013 06:24 AM

I don't have experience with marfan, but I definitely get staying with your Wh for support.

Hugs

Laura28 posted 5/11/2013 06:44 AM

Gottagetthrough

Thanks honey.

Laura

authenticnow posted 5/11/2013 06:51 AM

(((((Laura)))))

Laura28 posted 5/11/2013 06:56 AM

authenticnow

Thank you!!

Laura

nowiknow23 posted 5/11/2013 07:49 AM

((((Laura & kids)))) Sending you strength and comfort.

DragnHeart posted 5/12/2013 03:50 AM

Big Hugs right back at you Laura28

I'm so sorry you're going through this. I don't know anything about Marfan syndrome but I think anything that affects our children is the toughest thing to deal with.

((((((((((Laura28)))))))))

Laura28 posted 5/12/2013 04:09 AM

Thanks DH

Only those of us with sick kids get this shit. Especially when the problem is genetic, has long term implications and is inherited.

I suppose it is like infidelity. Until it happens to you it is so hard to understand how it feels.

BIG HUGS to you and your kids.

Laura

avicarswife posted 5/12/2013 05:05 AM

My aunt, cousin and one of my cousin's 2 sons have Marfan Syndrome.

My aunt who is in her late 70's was the first in our family that we know of who have Marfan Syndrome.

Both my aunt and cousin have had cardiac surgery - mitral valve. My cousin died a number of years ago and his wife took their kids overseas and we don't have any contact.

Whilst my aunt has had a number of surgeries she has and continues to live a very full life.

Laura28 posted 5/12/2013 05:32 AM

Thanks avicarswife

Both DS and DD have mitral valve problems. Time will tell I suppose.

The Prof is talking about surgery in the next few years for DS for his aorta. DD should be OK as her aorta seems stable. The Prof has not mentioned surgery for their mitral valves so I suppose they must be OK at present.

I guess the aorta problems take centre stage with me because they are so scary. At the first clinic we went to in 2007 I met a couple who had two daughters with them for investigation. Their third daughter had died from an aneurysm at 18 years old 3 months before. The two daughters they had with them were very tall and thin and drop dead gorgeous. I had done some reading on Marfan syndrome before the clinic but talking to them sent me into shock when I fully realised the implications.

What also freaks me out is the inherited aspect.

How do you tell your kids that THEIR children could be born with a life-threatening illness and multiple health problems?

They are both very clever and I think they have probably googled but they refuse to discuss it. I am torn between the urge to make sure they realise the implications and the desire to not spoil the lives they have now.

It is a shitty illness. I know my kids are so much better off then many who have youngsters whose illnesses cause serious problems daily. Mine seem well and fit at present while so many others don't have that. The "time bomb" aspect really gets to me at times.

Whilst my aunt has had a number of surgeries she has and continues to live a very full life.

Thanks for your info.

I suppose I can only hope for advances in the research and treatment.

Thanks again.

BIG HUGS

Laura

girlsbird posted 5/12/2013 10:42 AM

So many hugs to you and all the special needs Mom's out there.

I frequently care for kids with Special needs and I see how hard it is for all of you. Each and everyone has a special place in my heart, thoughts and prayers.

Recently lost a long time client (5.5 yrs with this little one) and felt like I had lost one of my own.

Although not Marfan this 8 yr old touched my heart in a very special way.

((((Hugs))))

wildbananas posted 5/12/2013 14:28 PM

I don't have experience with Marfan but do follow this blog written by a woman who lost her first daughter to it:

http://oursunshineangel.com/

I know she has links to some resources on there. Hope it helps.

Take2 posted 5/12/2013 16:10 PM

Well I likely have Marfan's.

I can't imagine how scary to have this situation with your child though. I have had no symptoms thus far but I do have all the physical markers, though I am only 5'8")and it is in the family

My Dad had Marfans and had numerous aneurysms, before he passed at the age of 76. (not due directly to Marfans) His first aneurysm was aortic at the age of 50, and scary as hell - it was unexpected. But once they knew what they were looking at - they monitored him very closely and stayed on top of it.

His father and grandfather likely died due to aneurysms before Marfans was on the radar, both over the age of 50.

My eldest brother has already dealt with the first aortic surgery at the age of 50. This was 15 years ago. Monitoring is ongoing for a leaky valve in the hopes the keyhole surgery will be perfected meantime, no other issues before or since.

There are 8 of us kids, 6 of us are tall and slim, long-limbed, little fat to speak of, high arched pallet...etc. We're all aging. I am number 7 - at age 54, so far so good. But I do have the aorta monitored every few years.

Never went for the genetic testing, I work off the presumption that it is a potential issue and monitor.

My niece is planning to go for some sort of base test that once completely she said could be used as a comparison for the rest of us. Presumably with just a simple blood test from family members they draw a comparison to her results. I do know that due to my brother's (her father's) aneurysm they recommended a C-section for her when she had her children. I had both my girls naturally (no issue)...

It can be confusing - no doubt, but know this - the survival rate with surgery is immensely increased when it is not an emergency procedure, and they are learning more everyday, coming up with better, less invasive procedure -- monitoring is key!

((Laura28 and kids))

T2


Laura28 posted 5/13/2013 03:38 AM

wildbananas

Thanks for the link to oursunshineangel honey. I started to read it but got teary pretty quickly. I will get back to it when I can. Such a sad story.

Take2

Thanks so much for your info honey. I suppose the stuff you hear about or read online is all for those who have crises. It is great to read about a family that has it but has been able to enjoy a relatively "normal" life. I recently heard that a local woman with Marfan (aged about 30) died from an aneurysm. I know she was being monitored and surgery was planned but news like that sends me into a panic.

The children both live about 250 miles away. They have awesome lives. They are very intelligent, social and have lots of friends. I actually posted a pic of them in F&G:

http://www.survivinginfidelity.com/forums.asp?tid=495798&AP=61&HL=28997

My son worries me though. He has been advised against doing weight training but insists on doing it. Having said that, I often think I would prefer he lived and enjoyed his life and died young rather than wrapping himself in cotton wool and being miserable. I find it hard to stand by and bite my tongue when I know he is doing things he shouldn't. But he is 22 and knows the risks so I have to leave it up to him.

Anyway, thanks again for your story. I really appreciate it.

HUGS

Laura

Amazonia posted 6/25/2013 19:29 PM

Laura, I just heard back from my friend (finally). She recommended http://nmfconnect.marfan.org/ but warns that it's not as active as it should be.

itainteasy posted 6/26/2013 07:47 AM

(((((Laura and family))))))

I'm not a mom...I can't imagine the terror you must feel.

I'll pray for you and your kids.

h0peless posted 6/26/2013 11:48 AM

I probably have it (I have a lot of the physical markers and I'm 6'8" tall) but I've never been tested and have always been healthy enough. It really hasn't caused me any problems except that I feel bad when I'm standing in front of other people at a sporting event or a concert.

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