Re: pectus carinatum/excavatum/ Bernie

[Guest guest]

Thank you for your kind reply, Bernie, & glad the links etc. were of some

use.

You wrote, " Have you had contact with others who have had both type of pectus

abnormality in the family " .

This sort of hit me, as I'm on both this list, & a Marfan list re:

connective tissue

disorders. No, I don't know of another family that has both types of pectus

deformity, other than yours, & mine. Pectus excavatum is more commonly

mentioned, & strange to say there is an on-going discussion on pectus

excavatum

(P.E.) on the Marfan list right now. As I wrote, P.E. is however the

commoner

pectus deformity; if I remember rightly, just over 80 odd percent have P.E.

You mention scoliosis; this is a feature found in some of those with EDS,

Marfan syndrome, other connective tissue disorders, other genetic disorders,

& those of unknown origin. The fact your daughter has pectus carinatum & a

mild scoliosis, & the fact that your brother has P.E., altho' he doesn't

have scoliosis, might be showing the " variable expression " that is a

feature of an autosomal dominant genetic disorder, such as those found in

the commoner types of EDS, some of those with Marfan syndrome, etc.

So, both scoliosis, & pectus deformities, are found in heritable connective

tissue disorders.

In our family's case another genetic disorder has been thrown into the mix.

Our son has a dx of both Marfanoid HEDS ( showing features of both EDS, &

Marfan syndrome, like your daughter... & he also has MVP), & Chiari 1

Malformation (CM1).

Scoliosis is often found in CM1 too! Hmm...& dysautonomia. Our son also has

signs of POTS, as do myself, & eldest daughter. On sites about POTS, both

EDS, & Chiari are mentioned amongst the pre-disposing conditions in which

this is found. See: http://www.potsplace.com/what_causes_pots.htm

An association has been found between EDS & Chiari 1 Malformation, so some

of us may have both disorders, & getting your Drs. to dx EDS is hard enough,

without asking them to look further into another disorder that can be

genetic! However, that might be another reason why some of us EDSers appear

to have further complicating issues.

Unfortunately there is nothing, as yet, in the medical literature about this

association

between EDS & Chiari, but a paper is due to be published, I have been told

by one

of the authors.

Thank you for sharing how your brother has overcome so much, despite his

difficulties.

I'm sure his achievements will continue to give you hope that your daughter

will find a

way, with your guidance, to achieve her true potential too,

With best wishes, to you, & your family,

Gail

North Yorkshire, U.K.

HEDS

Eldest daughter: HEDS

Son: Marfanoid HEDS, Chiari 1 Malformation & syringomyelia