TGF-beta mutation possible connection to FA and other genetic disorders?

[hopechap]

glanced at these articles briefly.  not a scientist here.  Trying to wrap my brain around - now what IS connective tissue, I forget.  But here goes:

My husband and his mother are very very tall - my husband 6'8'' . His mom - 6 foot something.  I don't think his fingers etc are particularly skinny --- never heard any mention of a disorder. His mom was sent to a Dr at age twelve because of her extreme height -- but nothing diagnosed.

My short father had aortic aneurysm.

My atopic sister - most allergic one of us- had eczema and developed a rare hip disease in her twenties - villonodular synovitis and had to have her hip replaced. 

My sister (MD) thinks that I may have had the genes for allergy but was spared because my parents moved to a farm the year I was born and yes I played in the dirt and mud with the chickens and the pigs,

my PA son has eczema and asthma.  He is tall, but there are always a few others as tall.

so -- is this gene thing at the root of our problems?

[LinksEtc]

"Searching for Genetic Links to Allergic Disease"
July 30, 2014

http://hopkinschildrens.org/Searching-for-Genetic-Links-to-Allergic-Disease.aspx

This discovery of a specific genetic channel linked to allergic disease is believed to be a scientific first. In a 2013 paper in Science Translational Medicine, Frischmeyer-Guerrerio identified aberrant TGF-beta signaling as the cause of a complex chain reaction that culminates in allergic disease.

[starlight]

This is really interesting. I got curious and found this http://www.allergysa.org/journals/2009/november/human-immunodeficiency-virus-and-allergic-disease.pdf, since HIV hits the T-cells and this research is saying allergic peoples' t-cells do the exact opposite of what they should be doing. I was wondering what, if anything, different happens to people with anaphlyactic allergies who contract HIV. It sounds like there's not any evidence of an interaction, but this part may be relevant to something in the future:

Studies have demonstrated an increase in IgE levels in
HIV-infected people (both adults and children).2,5 It has
also been found that IgE levels increase with disease
progression and decrease in CD4 counts. However,
these increases in IgE levels are not directly associated
with atopy or allergic disease but may signal a loss
of appropriate host immune response.

[MamaZu]

my son has just been diagnosed with a dilated aorta.   we are in the process of having genetic testing to determine if , and which connective tissue disorder he has.  he is tall (13 y/o - and 5"9) although not unusually tall for his peers (especially his fellow basketball player friends).
his wingspan is wider than he is tall - which is def a marker.  his fingers are long and thin.  he has flat feet.  because of his significantly dilated aorta all 4 of the specialists (3 cardiologists and 1 geneticist) that we've seen are certain he has a connective tissue disorder although they aren't convinced its marfan - more likely one of the others.   waiting on insurance approval and hopefully being tested at JHU although it takes months to get in...

is anyone else here dealing with marfan, or another connective tissue disorder?   dilated aorta?  we are scared.  its overwhelming...

tia
mamaz

[CMdeux]

Jmar-- you should contact her.  Maybe someone else knows how to get into touch with her?  She knows about that testing process, and exactly what you are going through.   

DD and I both have probable EDS, though which type isn't clear-- and, as you say, it's hard to get in for testing because of the wait times involved. 

[rebekahc]

I'm connected with her on FB - I'll send her a heads up.

My DS also has a probable connective tissue disorder (possibly marfan's) but we haven't pursued further testing - just monitoring symptoms.

[Jmarc]

well helllllllooooooooo all!!  ok my dtr is 18 has marfan's clinically diagnosed. small very little dilation in her aorta. genetic testing /DNA is a conclusive way to diagnose the conditon however it does not alway show up in the DNA/blood work. i could be spelling this wrong..the gene they are looking for is called a filliruben( again forgot the spelling )1 gene.. however its like a marker for the disease...but not always present in the DNA, however they can still have the conditon disease and the gene is not located. my dtr had the following out 10 markers they use to determine marfans..
high palate(roof of mouth extremely high
crowded or excessive amount of adult teeth...several were pulled and she wore braces for 2 years
scoliosis..conductive to the disease he bottom of her spine is shaped like the letter C
excessive hieght she 5'10 right now an still growing  even at 18
long fingers and toes
flat feet
arm span is londer than her height as well as her leg span
she is hyper flexiable connective tissue disorder as well
no cheek bones to speak of
very flat faced hardly no chin which is if you dig deeper is another sign of marfans and or connective tissue dis order
pigeon chested her breast bone stick out instead of caving in..rather to have that part of it as it is surgery if its caved in
she did have a peanut allergy but was one in 10 thousand that actually out grew it...not sure if there is any correlation to that and marfans

now take a deep breath...marfans is liveable!!!

how we found out...when she was 12 we went to boston to have her migraines reviewed casue no one in worcester would see a kid under 14 unless it was trauma...saw a neuro doc... he took one look at her and next i knew i had a cardioligist and ortho doc neuro and talk about scary all at once....but after all the tests and re tests and such i researched joined a marfan group and found out that there are varying degrees of marfans..some very simple and some very severe...we are in the middle...with my dtr...and she is thriving....its a very livable disease condition...
i would suggest if you have a medic alert bracelet to add marfans to it in case of emergency..i will try to find the group i joined and post it here.

and deep breath....its going to be ok!!!

[Jmarc]

http://www.marfan.org/?gclid=CMCx6IWQyMcCFVg6gQodmPEKYQ


this is the best place to start and it was/ an is my bible with this condition/disease....lots of advice and support etc...best out there in my opinion....its been a god send to me.. im usually on facebook alot i admin a forum on there.....so if you have an account you can contact me there too....under michelle marcustry...add me as a friend and i can help/walk you thru the steps of this disease...or email me at jmarcustry@aol.com im more than happy to help

[daisy madness]

Hmm.  I feel a bit crazy, but I'm wondering if DH could have Marfan Syndrome.  Out of the following symptoms, he has 4 (1, 2, 4, 7).  With regards to #7, I work in the dental profession and I have never seen someone with such a constricted palate like he has.  Is it possible to have more mild visible symptoms so that it wouldn't be blatantly obvious, even to the medical community?  He's going for a physical next week.  Dare I have him ask the doctor?  Goodness, this doctor is going to think I'm a nut.  He did have an ultrasound of his heart about 10 years ago when the doctor heard an unusual murmur, but it was normal.  I'm sure they would have noticed if there was anything concerning with his aorta. 

•Long arms, legs and fingers
•Tall and thin body type
•Curved spine
•Chest sinks in or sticks out
•Flexible joints
•Flat feet
•Crowded teeth
•Stretch marks on the skin that are not related to weight gain or loss

[Jmarc]

your not nuts, i saw it and never questioned it. the heart and aorta need and ultraound every year to determine no problems have arised...however i have found that symptoms can be mild to severe and some can have it without any physical characteristics(sp?)or markers at all and some have everyone of the markers physically...also family history is a big thing too....my biological father was 6'5 his father my grandfather was 6'7 and my half brother whom my father , fathered out of wedlock is 6.'9 he however was tested as well and found not to have marfans,,but is still watched closely.

i would have him ask his dr. it couldnt hurt at all...

[CMdeux]

J, thank you SO much for sharing that.   

[MamaZu]

Thank you so much.  I'm on my iPad which is abt to run out of charge but I will come back tomorrow after a good night sleep. 
Back to school week, 504, normally exhausting, but all of this new health stuff and I am wiped completely out...

[Jmarc]

i hear ya it can be pretty over whelming and very hard to absorb all at once   we had a scare earlier this year...we have a counter that everyone props themselves up on in the kitchen to sit and chat...although ot part of the counter that is never used,,we all hop up there,,,(i prefer the chairs to sit in but i digress) my dtr puts her hands behind her and hoisted herself up ...after a while of chit chatting...she hops down and goes to the couch... starts complaining of chest pain....we wait a few thinking maybe gas...give some motrin( im thinking asprin would be better in the even of...but no asprin in the house)..and see if it goes away...well nope we rush to the er... get in the triage part and my dtr blurts out i have chest pain and as soon as the nurse is about to say have a seat she said i have marfans...next thing i know shes on a gurney hooked up to every ekg, untrasound machine and the like....wisked off to cat scan... cardiology and poof back in a room... determimed her aorta was fine..because of the connective tissue disorder along with the marfans apparently you can over stretch your already super fexibale muscles and tissues... what she did when she hopped up was pulled her chest muscle..all was well and we were home for rest and motrin for pain relief.....so yes it can be over whelming. and scares like that are few and far between thank god....i now am on anxiety meds and she is also..

[GoingNuts]

I have absolutely nothing to contribute here, but wanted to  hello to Jmarc!  It's good to see you. 

[MamaZu]

jmarc i sent you a message.   i really appreciate you sharing. 
unlike food allergies this is something that nobody has ever heard of, and i have never felt so alone in dealing with something