Re: Jacki about Marfan Syndrom

[Guest guest]

Hey Kelli and Jacki

My son is currently being tested for a really new syndrome (one year old) called Loeys-Dietz Syndrome. It is also a connective tissue disorder in the whole Marfan, beals, Ehlers Danlos realm. The testing is being done at University of Texas in Houston by Dr Dianna Milewicz.

Connie

Re: Jacki about Marfan Syndrom

Hi Kelli Siobhan was first dx with a "connective tissue disorder", but they only ever mentioned Marfan to me. I did lots of research on the net, and found Ehlors Danlos, Sticklers and Beals, but she didn't fit into them as well as Marfan.

Her skeletal characteristics are:

Very tall (always 97% percentile or more)

Super long fingers and toes!

Very long arms and legs (her arm span is greater than her height by a fair amount!)

Severly pronated feet

And of course her progressive scoliosis

She has recurring hernias

Her aorta is enlarged

Her eyes are fine

High arched palete

Hypermobility in some joints

All this didn't give her the dx, even though it nearly did! Dr D (in SLC) noticed a hip problem, where her hip joints are too "pushed in" to the sockets). This will be monitored and will cause problems later, but it did mean that she met the very strict criteria of dx.

The follow up continues, with yearly eye exams, and yearly echos. They have put her on a modified PE programme at school. I have to have echo's every 3-5 years too, so don't be surprised if they take a good look at you and Santi's dad!

Unfortunately, in terms of her scoliosis, they can't "fix" her connective tissues, or even stregthen them in the same way you can muscles. We tried casting with great results! That super flexible spine can be straighten so easily - too easily in fact! As soon as the casts came off, we lost most of the correction. We knew this all along, and were just bidding time until either she'd grown enough, or something better came along.

Well kelli, I've written a novel. Good luck with the testing on little Santi - Email me "off-list" if you want to chat more.....

Jacki

> >

> > i know that there is someone here whose child has marfan

> > syndrome or is suspected of having marfans. i saw this

> > article in science and thought it might be of interest.

> > > > deshea

> > > > Science 7 April 2006:

> > Vol. 312. no. 5770, pp. 117 - 121

> > DOI: 10.1126/science.1124287

> > > > Prev | Table of Contents | Next

> > Reports

> > Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a

> > Mouse Model of Marfan Syndrome

> > P. Habashi,1* P. Judge,2* Tammy M. Holm,1

> > D. Cohn,1 Bart L. Loeys,1 K. ,1,3 Loretha

> > Myers,1 C. Klein,1 Guosheng Liu,3 Carla Calvi,2

> > Podowski,2 Enid R. Neptune,2 Marc K. Halushka,4 Djahida

> > Bedja,3 Kathleen son,3 B. Rifkin,5 Luca Carta,6

> > Francesco ,6 L. Huso,3 Harry C. Dietz1,2{dagger}

> > > > Aortic aneurysm and dissection are manifestations of Marfan

> > syndrome (MFS), a disorder caused by mutations in the gene

> > that encodes fibrillin-1. Selected manifestations of MFS

> > reflect excessive signaling by the transforming growth

> > factorâ€"ß (TGF-ß) family of cytokines. We show that aortic

> > aneurysm in a mouse model of MFS is associated with increased

> > TGF-ß signaling and can be prevented by TGF-ß antagonists such

> > as TGF-ßâ€"neutralizing antibody or the angiotensin II type 1

> > receptor (AT1) blocker, losartan. AT1 antagonism also

> > partially reversed noncardiovascular manifestations of MFS,

> > including impaired alveolar septation. These data suggest that

> > losartan, a drug already in clinical use for hypertension,

> > merits investigation as a therapeutic strategy for patients

> > with MFS and has the potential to prevent the major

> > life-threatening manifestation of this disorder.

> > > > 1 Medical Institute and Department of

> > Pediatrics, s Hopkins University School of Medicine,

> > Baltimore, MD 21205, USA.

> > 2 Department of Medicine, s Hopkins University School of

> > Medicine, Baltimore, MD 21205, USA.

> > 3 Department of Molecular and Comparative Pathobiology, s

> > Hopkins University School of Medicine, Baltimore, MD 21205, USA.

> > 4 Department of Pathology, s Hopkins University School of

> > Medicine, Baltimore, MD 21205, USA.

> > 5 Departments of Cell Biology and Medicine, New York

> > University School of Medicine, New York, NY 10016, USA.

> > 6 Child Health Institute of New Jersey, University of Medicine

> > and Dentistry of New Jerseyâ€" Wood Medical

> > School, New Brunswick, NJ 08903, USA.

> > > > * These authors contributed equally to this work.

> > > > {dagger} To whom correspondence should be addressed. E-mail:

> > hdietz@

> >

> > > > > > > > ---------------------------------

> ! GROUPS LINKS > > > Visit your group "infantile scoliosis treatment" on the web.

> >

[Guest guest]

Hi Connie

Good to hear from you again. I have heard of Loeys-Dietz! I thought

I read that with LD there were quite significant heart involvement?

Is that right? And is doing OK?

Jacki

> > >

> > > i know that there is someone here whose child has marfan

> > > syndrome or is suspected of having marfans. i saw this

> > > article in science and thought it might be of interest.

> > >

> > > deshea

> > >

> > > Science 7 April 2006:

> > > Vol. 312. no. 5770, pp. 117 - 121

> > > DOI: 10.1126/science.1124287

> > >

> > > Prev | Table of Contents | Next

> > > Reports

> > > Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a

> > > Mouse Model of Marfan Syndrome

> > > P. Habashi,1* P. Judge,2* Tammy M. Holm,1

> > > D. Cohn,1 Bart L. Loeys,1 K. ,1,3 Loretha

> > > Myers,1 C. Klein,1 Guosheng Liu,3 Carla Calvi,2

> > > Podowski,2 Enid R. Neptune,2 Marc K. Halushka,4 Djahida

> > > Bedja,3 Kathleen son,3 B. Rifkin,5 Luca Carta,6

> > > Francesco ,6 L. Huso,3 Harry C. Dietz1,2{dagger}

> > >

> > > Aortic aneurysm and dissection are manifestations of Marfan

> > > syndrome (MFS), a disorder caused by mutations in the gene

> > > that encodes fibrillin-1. Selected manifestations of MFS

> > > reflect excessive signaling by the transforming growth

> > > factor†" ß (TGF-ß) family of cytokines. We show that

aortic

> > > aneurysm in a mouse model of MFS is associated with increased

> > > TGF-ß signaling and can be prevented by TGF-ß

antagonists such

> > > as TGF-߆" neutralizing antibody or the angiotensin II

type 1

> > > receptor (AT1) blocker, losartan. AT1 antagonism also

> > > partially reversed noncardiovascular manifestations of MFS,

> > > including impaired alveolar septation. These data suggest that

> > > losartan, a drug already in clinical use for hypertension,

> > > merits investigation as a therapeutic strategy for patients

> > > with MFS and has the potential to prevent the major

> > > life-threatening manifestation of this disorder.

> > >

> > > 1 Medical Institute and Department of

> > > Pediatrics, s Hopkins University School of Medicine,

> > > Baltimore, MD 21205, USA.

> > > 2 Department of Medicine, s Hopkins University School of

> > > Medicine, Baltimore, MD 21205, USA.

> > > 3 Department of Molecular and Comparative Pathobiology, s

> > > Hopkins University School of Medicine, Baltimore, MD 21205,

USA.

> > > 4 Department of Pathology, s Hopkins University School of

> > > Medicine, Baltimore, MD 21205, USA.

> > > 5 Departments of Cell Biology and Medicine, New York

> > > University School of Medicine, New York, NY 10016, USA.

> > > 6 Child Health Institute of New Jersey, University of Medicine

> > > and Dentistry of New Jersey†" Wood Medical

> > > School, New Brunswick, NJ 08903, USA.

> > >

> > > * These authors contributed equally to this work.

> > >

> > > {dagger} To whom correspondence should be addressed. E-mail:

> > > hdietz@

> > >

> >

> >

> >

> >

> >

> >

> >

> > ---------------------------------

> > ! GROUPS LINKS

> >

> >

> > Visit your group " infantile scoliosis treatment " on the web.

> >

> >

[Guest guest]

From what I understand at this point is that the dilation of the aorta is usually the major problem in LDS. Same is true in Marfans and Beals however they are finding that people with LDS get dissection in their Aorta sooner then the other two, even when the enlargement is the same size.

is doing fine, thanks for asking, he had ASD repair surgery one month ago and is doing great. We also went to ish Rite yesterday and Our Orthopedic Surgeon wants to get the ball rolling on the halo traction followed by rod surgery. For some reason our doc seems to think that should not do the VEPTR procedure. He said something about the veptr and harrington rod both being placed???!!! I'm not sure how much faith I have in this doc. I am confused right now. We're are really considering going to San . I'll keep you posted.

Connie

Re: Jacki about Marfan Syndrom

Hi Connie

Good to hear from you again. I have heard of Loeys-Dietz! I thought I read that with LD there were quite significant heart involvement? Is that right? And is doing OK?

Jacki

> > >

> > > i know that there is someone here whose child has marfan

> > > syndrome or is suspected of having marfans. i saw this

> > > article in science and thought it might be of interest.

> > > > > > deshea

> > > > > > Science 7 April 2006:

> > > Vol. 312. no. 5770, pp. 117 - 121

> > > DOI: 10.1126/science.1124287

> > > > > > Prev | Table of Contents | Next

> > > Reports

> > > Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a

> > > Mouse Model of Marfan Syndrome

> > > P. Habashi,1* P. Judge,2* Tammy M. Holm,1

> > > D. Cohn,1 Bart L. Loeys,1 K. ,1,3 Loretha

> > > Myers,1 C. Klein,1 Guosheng Liu,3 Carla Calvi,2

> > > Podowski,2 Enid R. Neptune,2 Marc K. Halushka,4 Djahida

> > > Bedja,3 Kathleen son,3 B. Rifkin,5 Luca Carta,6

> > > Francesco ,6 L. Huso,3 Harry C. Dietz1,2{dagger}

> > > > > > Aortic aneurysm and dissection are manifestations of Marfan

> > > syndrome (MFS), a disorder caused by mutations in the gene

> > > that encodes fibrillin-1. Selected manifestations of MFS

> > > reflect excessive signaling by the transforming growth

> > > factorâ€"ß (TGF-ß) family of cytokines. We show that aortic

> > > aneurysm in a mouse model of MFS is associated with increased

> > > TGF-ß signaling and can be prevented by TGF-ß antagonists such

> > > as TGF-ßâ€"neutralizing antibody or the angiotensin II type 1

> > > receptor (AT1) blocker, losartan. AT1 antagonism also

> > > partially reversed noncardiovascular manifestations of MFS,

> > > including impaired alveolar septation. These data suggest that

> > > losartan, a drug already in clinical use for hypertension,

> > > merits investigation as a therapeutic strategy for patients

> > > with MFS and has the potential to prevent the major

> > > life-threatening manifestation of this disorder.

> > > > > > 1 Medical Institute and Department of

> > > Pediatrics, s Hopkins University School of Medicine,

> > > Baltimore, MD 21205, USA.

> > > 2 Department of Medicine, s Hopkins University School of

> > > Medicine, Baltimore, MD 21205, USA.

> > > 3 Department of Molecular and Comparative Pathobiology, s

> > > Hopkins University School of Medicine, Baltimore, MD 21205, USA.

> > > 4 Department of Pathology, s Hopkins University School of

> > > Medicine, Baltimore, MD 21205, USA.

> > > 5 Departments of Cell Biology and Medicine, New York

> > > University School of Medicine, New York, NY 10016, USA.

> > > 6 Child Health Institute of New Jersey, University of Medicine

> > > and Dentistry of New Jerseyâ€" Wood Medical

> > > School, New Brunswick, NJ 08903, USA.

> > > > > > * These authors contributed equally to this work.

> > > > > > {dagger} To whom correspondence should be addressed. E-mail:

> > > hdietz@

> > >

> > > > > > > > > > > > > > > > ---------------------------------

> > ! GROUPS LINKS > > > > > > Visit your group "infantile scoliosis treatment" on the web.

> > > >

[Guest guest]

Connie, You can find contact information for the inventor of the Veptr, Dr. , at www.veptr.com in the locations section. He is at Christus Santa Children's Hospital in San , Texas. I would check out all avenues before committing to such a permanent surgery as rods. My daughter Moriah went through two halos. We were told by two seasoned orthopedic surgeons at two different hospitals that she was not a candidate for the Veptr. We went straight to the inventor for an assessment to be sure. We chose the Veptr over a rod that would not expand, and that they could not assure us would even control her curve. She has two VEPTR hybrids, one on each side. It has not only maintained her curve, but improved it. She was 130 scoliosis, 130 kyphosis at her worst. Her story is at www.infantilescoliosis.org. Glad you have found this list and all these wonderful Moms. We just try to help each other. Shellie Grant tovi39@... wrote: From what I understand at this point is that the dilation of the aorta is usually the major problem in LDS. Same is true in Marfans and Beals however they are finding that people with LDS get dissection in their Aorta sooner then the other two, even

when the enlargement is the same size. is doing fine, thanks for asking, he had ASD repair surgery one month ago and is doing great. We also went to ish Rite yesterday and Our Orthopedic Surgeon wants to get the ball rolling on the halo traction followed by rod surgery. For some reason our doc seems to think that should not do the VEPTR procedure. He said something about the veptr and harrington rod both being placed???!!! I'm not sure how much faith I have in this doc. I am confused right now. We're are really considering going to San . I'll keep you posted. Connie Re: Jacki about Marfan Syndrom Hi Connie Good to hear from you again. I have heard of Loeys-Dietz! I thought I read that with LD there were quite significant heart involvement? Is that right? And is doing OK? Jacki > > > > > > i know that there is someone here whose child has marfan > > > syndrome or is suspected of having marfans. i saw this > > > article in science and thought it might be of interest. > > > > > > deshea > > > > > > Science 7 April 2006: > > > Vol. 312. no. 5770, pp. 117 - 121 > > > DOI: 10.1126/science.1124287 > > > > > > Prev | Table of Contents | Next > > > Reports > > > Losartan, an AT1

Antagonist, Prevents Aortic Aneurysm in a > > > Mouse Model of Marfan Syndrome > > > P. Habashi,1* P. Judge,2* Tammy M. Holm,1 > > > D. Cohn,1 Bart L. Loeys,1 K. ,1,3 Loretha > > > Myers,1 C. Klein,1 Guosheng Liu,3 Carla Calvi,2 > > > Podowski,2 Enid R. Neptune,2 Marc K. Halushka,4 Djahida > > > Bedja,3 Kathleen son,3 B. Rifkin,5 Luca Carta,6 > > > Francesco ,6 L. Huso,3 Harry C. Dietz1,2{dagger} > > > > > > Aortic aneurysm and dissection are manifestations of Marfan > > > syndrome (MFS), a disorder caused by mutations in the gene > > > that encodes fibrillin-1. Selected manifestations of MFS > > > reflect excessive signaling by the transforming growth > > > factorâ€"ß (TGF-ß) family of cytokines. We show that aortic > > > aneurysm in a mouse model of MFS is associated with increased > > > TGF-ß signaling and can be prevented by TGF-ß antagonists such > > > as TGF-ßâ€"neutralizing antibody or the angiotensin II type 1 > > > receptor (AT1) blocker, losartan. AT1 antagonism also > > > partially reversed noncardiovascular manifestations of MFS, > > > including impaired alveolar septation. These data suggest that > > > losartan, a drug already in clinical use for hypertension, > > > merits investigation as a therapeutic strategy for patients > > > with MFS and has the potential to prevent the major > > > life-threatening manifestation of this disorder. > > > > > > 1 Medical Institute and Department of > > > Pediatrics, s Hopkins University School of Medicine, > > > Baltimore, MD 21205, USA. > > > 2 Department of Medicine, s Hopkins University School of > > > Medicine, Baltimore, MD 21205, USA. > > > 3 Department of Molecular and Comparative Pathobiology, s > > > Hopkins University School of Medicine, Baltimore, MD 21205, USA. > > > 4 Department of Pathology, s Hopkins University School of > > > Medicine, Baltimore, MD 21205, USA. > > > 5 Departments of Cell Biology and Medicine,

New York > > > University School of Medicine, New York, NY 10016, USA. > > > 6 Child Health Institute of New Jersey, University of Medicine > > > and Dentistry of New Jerseyâ€" Wood Medical > > > School, New Brunswick, NJ 08903, USA. > > > > > > * These authors contributed equally to this work. > > > > > > {dagger} To whom correspondence should be addressed. E-mail: > > > hdietz@ > > > > > > > > > > > > > > > > > > > --------------------------------- > > ! GROUPS LINKS > > > > > > Visit your group "infantile scoliosis treatment" on the web. > > > >

[Guest guest]

Connie: Is that ish Rite in Atlanta? Where are you located?

Mayes

In Metro Atlanta

> > > >

> > > > i know that there is someone here whose child has marfan

> > > > syndrome or is suspected of having marfans. i saw this

> > > > article in science and thought it might be of interest.

> > > >

> > > > deshea

> > > >

> > > > Science 7 April 2006:

> > > > Vol. 312. no. 5770, pp. 117 - 121

> > > > DOI: 10.1126/science.1124287

> > > >

> > > > Prev | Table of Contents | Next

> > > > Reports

> > > > Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a

> > > > Mouse Model of Marfan Syndrome

> > > > P. Habashi,1* P. Judge,2* Tammy M. Holm,1

> > > > D. Cohn,1 Bart L. Loeys,1 K. ,1,3

Loretha

> > > > Myers,1 C. Klein,1 Guosheng Liu,3 Carla Calvi,2

> > > > Podowski,2 Enid R. Neptune,2 Marc K. Halushka,4 Djahida

> > > > Bedja,3 Kathleen son,3 B. Rifkin,5 Luca Carta,6

> > > > Francesco ,6 L. Huso,3 Harry C. Dietz1,2{dagger}

> > > >

> > > > Aortic aneurysm and dissection are manifestations of Marfan

> > > > syndrome (MFS), a disorder caused by mutations in the gene

> > > > that encodes fibrillin-1. Selected manifestations of MFS

> > > > reflect excessive signaling by the transforming growth

> > > > factor†" ÃÆ'Ÿ (TGF-ÃÆ'Ÿ) family of

cytokines. We show that

> aortic

> > > > aneurysm in a mouse model of MFS is associated with increased

> > > > TGF-ÃÆ'Ÿ signaling and can be prevented by TGF-ÃÆ'Ÿ

> antagonists such

> > > > as TGF-ÃÆ'Ÿâ€ " neutralizing antibody or the

angiotensin II

> type 1

> > > > receptor (AT1) blocker, losartan. AT1 antagonism also

> > > > partially reversed noncardiovascular manifestations of MFS,

> > > > including impaired alveolar septation. These data suggest

that

> > > > losartan, a drug already in clinical use for hypertension,

> > > > merits investigation as a therapeutic strategy for patients

> > > > with MFS and has the potential to prevent the major

> > > > life-threatening manifestation of this disorder.

> > > >

> > > > 1 Medical Institute and Department of

> > > > Pediatrics, s Hopkins University School of Medicine,

> > > > Baltimore, MD 21205, USA.

> > > > 2 Department of Medicine, s Hopkins University School of

> > > > Medicine, Baltimore, MD 21205, USA.

> > > > 3 Department of Molecular and Comparative Pathobiology, s

> > > > Hopkins University School of Medicine, Baltimore, MD 21205,

> USA.

> > > > 4 Department of Pathology, s Hopkins University School of

> > > > Medicine, Baltimore, MD 21205, USA.

> > > > 5 Departments of Cell Biology and Medicine, New York

> > > > University School of Medicine, New York, NY 10016, USA.

> > > > 6 Child Health Institute of New Jersey, University of

Medicine

> > > > and Dentistry of New Jersey†" Wood

Medical

> > > > School, New Brunswick, NJ 08903, USA.

> > > >

> > > > * These authors contributed equally to this work.

> > > >

> > > > {dagger} To whom correspondence should be addressed. E-mail:

> > > > hdietz@

> > > >

> > >

> > >

> > >

> > >

> > >

> > >

> > >

> > > ---------------------------------

> > > ! GROUPS LINKS

> > >

> > >

> > > Visit your group " infantile scoliosis treatment " on the web.

> > >

> > >

[Guest guest]

Hi Connie

Thanks for the explanation on LD - I read recently that there over

200 connective tissue disorders! I used to stress over a dx in the

early days, but eventually saw that as long as Siobhan's heart

continues to be monitored, a dx probably wouldn't change that.

I feel now that we do have a confirmed dx of Marfan that it is

easier to " be taken seriously " .

I'm sorry that 's spine is not doing so well - I would

definetely follow the advice of Carmell and Shellie, and try and see

Dr and /or in San .

Jacki

> > > >

> > > > i know that there is someone here whose child has marfan

> > > > syndrome or is suspected of having marfans. i saw this

> > > > article in science and thought it might be of interest.

> > > >

> > > > deshea

> > > >

> > > > Science 7 April 2006:

> > > > Vol. 312. no. 5770, pp. 117 - 121

> > > > DOI: 10.1126/science.1124287

> > > >

> > > > Prev | Table of Contents | Next

> > > > Reports

> > > > Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a

> > > > Mouse Model of Marfan Syndrome

> > > > P. Habashi,1* P. Judge,2* Tammy M. Holm,1

> > > > D. Cohn,1 Bart L. Loeys,1 K. ,1,3

Loretha

> > > > Myers,1 C. Klein,1 Guosheng Liu,3 Carla Calvi,2

> > > > Podowski,2 Enid R. Neptune,2 Marc K. Halushka,4 Djahida

> > > > Bedja,3 Kathleen son,3 B. Rifkin,5 Luca Carta,6

> > > > Francesco ,6 L. Huso,3 Harry C. Dietz1,2{dagger}

> > > >

> > > > Aortic aneurysm and dissection are manifestations of Marfan

> > > > syndrome (MFS), a disorder caused by mutations in the gene

> > > > that encodes fibrillin-1. Selected manifestations of MFS

> > > > reflect excessive signaling by the transforming growth

> > > > factor†" ÃÆ'Ÿ (TGF-ÃÆ'Ÿ) family of

cytokines. We show that

> aortic

> > > > aneurysm in a mouse model of MFS is associated with increased

> > > > TGF-ÃÆ'Ÿ signaling and can be prevented by TGF-ÃÆ'Ÿ

> antagonists such

> > > > as TGF-ÃÆ'Ÿâ€ " neutralizing antibody or the

angiotensin II

> type 1

> > > > receptor (AT1) blocker, losartan. AT1 antagonism also

> > > > partially reversed noncardiovascular manifestations of MFS,

> > > > including impaired alveolar septation. These data suggest

that

> > > > losartan, a drug already in clinical use for hypertension,

> > > > merits investigation as a therapeutic strategy for patients

> > > > with MFS and has the potential to prevent the major

> > > > life-threatening manifestation of this disorder.

> > > >

> > > > 1 Medical Institute and Department of

> > > > Pediatrics, s Hopkins University School of Medicine,

> > > > Baltimore, MD 21205, USA.

> > > > 2 Department of Medicine, s Hopkins University School of

> > > > Medicine, Baltimore, MD 21205, USA.

> > > > 3 Department of Molecular and Comparative Pathobiology, s

> > > > Hopkins University School of Medicine, Baltimore, MD 21205,

> USA.

> > > > 4 Department of Pathology, s Hopkins University School of

> > > > Medicine, Baltimore, MD 21205, USA.

> > > > 5 Departments of Cell Biology and Medicine, New York

> > > > University School of Medicine, New York, NY 10016, USA.

> > > > 6 Child Health Institute of New Jersey, University of

Medicine

> > > > and Dentistry of New Jersey†" Wood

Medical

> > > > School, New Brunswick, NJ 08903, USA.

> > > >

> > > > * These authors contributed equally to this work.

> > > >

> > > > {dagger} To whom correspondence should be addressed. E-mail:

> > > > hdietz@

> > > >

> > >

> > >

> > >

> > >

> > >

> > >

> > >

> > > ---------------------------------

> > > ! GROUPS LINKS

> > >

> > >

> > > Visit your group " infantile scoliosis treatment " on the web.

> > >

> > >

[Guest guest]

Thanks Shellie, I called The Childrens hospital in San and am waiting for them to call me back with an appointment.

Connie

Re: Jacki about Marfan Syndrom

Hi Connie Good to hear from you again. I have heard of Loeys-Dietz! I thought I read that with LD there were quite significant heart involvement? Is that right? And is doing OK? Jacki > > > > > > i know that there is someone here whose child has marfan > > > syndrome or is suspected of having marfans. i saw this > > > article in science and thought it might be of interest. > > > > > > deshea > > > > > > Science 7 April 2006: > > > Vol. 312. no. 5770, pp. 117 - 121 > > > DOI: 10.1126/science.1124287 > > > > > > Prev | Table of Contents | Next > > > Reports > > > Losartan, an AT1

Antagonist, Prevents Aortic Aneurysm in a > > > Mouse Model of Marfan Syndrome > > > P. Habashi,1* P. Judge,2* Tammy M. Holm,1 > > > D. Cohn,1 Bart L. Loeys,1 K. ,1,3 Loretha > > > Myers,1 C. Klein,1 Guosheng Liu,3 Carla Calvi,2 > > > Podowski,2 Enid R. Neptune,2 Marc K. Halushka,4 Djahida > > > Bedja,3 Kathleen son,3 B. Rifkin,5 Luca Carta,6 > > > Francesco ,6 L. Huso,3 Harry C. Dietz1,2{dagger} > > > > > > Aortic aneurysm and dissection are manifestations of Marfan > > > syndrome (MFS), a disorder caused by mutations in the gene > > > that encodes fibrillin-1. Selected manifestations of MFS > > > reflect excessive signaling by the transforming growth > > > factorâ€"ß (TGF-ß) family of cytokines. We show that aortic > > > aneurysm in a mouse model of MFS is associated with increased > > > TGF-ß signaling and can be prevented by TGF-ß antagonists such > > > as TGF-ßâ€"neutralizing antibody or the angiotensin II type 1 > > > receptor (AT1) blocker, losartan. AT1 antagonism also > > > partially reversed noncardiovascular manifestations of MFS, > > > including impaired alveolar septation. These data suggest that > > > losartan, a drug already in clinical use for hypertension, > > > merits investigation as a therapeutic strategy for patients > > > with MFS and has the potential to prevent the major > > > life-threatening manifestation of this disorder. > > > > > > 1 Medical Institute and Department of > > > Pediatrics, s Hopkins University School of Medicine, > > > Baltimore, MD 21205, USA. > > > 2 Department of Medicine, s Hopkins University School of > > > Medicine, Baltimore, MD 21205, USA. > > > 3 Department of Molecular and Comparative Pathobiology, s > > > Hopkins University School of Medicine, Baltimore, MD 21205, USA. > > > 4 Department of Pathology, s Hopkins University School of > > > Medicine, Baltimore, MD 21205, USA. > > > 5 Departments of Cell Biology and Medicine,

New York > > > University School of Medicine, New York, NY 10016, USA. > > > 6 Child Health Institute of New Jersey, University of Medicine > > > and Dentistry of New Jerseyâ€" Wood Medical > > > School, New Brunswick, NJ 08903, USA. > > > > > > * These authors contributed equally to this work. > > > > > > {dagger} To whom correspondence should be addressed. E-mail: > > > hdietz@ > > > > > > > > > > > > > > > > > > > --------------------------------- > > ! GROUPS LINKS > > > > > > Visit your group "infantile scoliosis treatment" on the web. > > > >

[Guest guest]

Hi , Do you know if your daughter has some sort of connective tissue disorder? is really involved from head to toe I'll list all that I can think of right now....

Born with contractures of knees and elbows.

Born with heart murmer

extremely low muscle tone. It actually seems like he has no muscle at all.

doesn't walk

doesn't crawl (7 years old)

He does roll

very little thin hair,like new born

had superior saggital and right transverse thrombosis ( blood clots in the veins in his brain)

had very unstable C1 and pressure on his spinal cord.-has had cervical spinal fusion to correct

scoliosis

ASD (hole in heart) just repaired last month

Very very very hyperextendable joints...His knees can easily be pulled out of socket as well as all his other joints.

crumpled toes

pectus excavacum ( indented chest)

fused ulna and radius in arms

very small. 31 pounds and 37 inches-7 years old

Very far sighted- started wearing glasses at 5 months

soft velvet like skin, kind of transluscent.

poor eater

cognatively is a bit behind but no retardation.

very happy and loveable and sweet!!

and cute as a button!!!

Connie

Re: Jacki about Marfan Syndrom

Hi Kelli Siobhan was first dx with a "connective tissue disorder", but they only ever mentioned Marfan to me. I did lots of research on the net, and found Ehlors Danlos, Sticklers and Beals, but she didn't fit into them as well as Marfan.

Her skeletal characteristics are:

Very tall (always 97% percentile or more)

Super long fingers and toes!

Very long arms and legs (her arm span is greater than her height by a fair amount!)

Severly pronated feet

And of course her progressive scoliosis

She has recurring hernias

Her aorta is enlarged

Her eyes are fine

High arched palete

Hypermobility in some joints

All this didn't give her the dx, even though it nearly did! Dr D (in SLC) noticed a hip problem, where her hip joints are too "pushed in" to the sockets). This will be monitored and will cause problems later, but it did mean that she met the very strict criteria of dx.

The follow up continues, with yearly eye exams, and yearly echos. They have put her on a modified PE programme at school. I have to have echo's every 3-5 years too, so don't be surprised if they take a good look at you and Santi's dad!

Unfortunately, in terms of her scoliosis, they can't "fix" her connective tissues, or even stregthen them in the same way you can muscles. We tried casting with great results! That super flexible spine can be straighten so easily - too easily in fact! As soon as the casts came off, we lost most of the correction. We knew this all along, and were just bidding time until either she'd grown enough, or something better came along.

Well kelli, I've written a novel. Good luck with the testing on little Santi - Email me "off-list" if you want to chat more.....

Jacki

> >

> > i know that there is someone here whose child has marfan

> > syndrome or is suspected of having marfans. i saw this

> > article in science and thought it might be of interest.

> > > > deshea

> > > > Science 7 April 2006:

> > Vol. 312. no. 5770, pp. 117 - 121

> > DOI: 10.1126/science.1124287

> > > > Prev | Table of Contents | Next

> > Reports

> > Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a

> > Mouse Model of Marfan Syndrome

> > P. Habashi,1* P. Judge,2* Tammy M. Holm,1

> > D. Cohn,1 Bart L. Loeys,1 K. ,1,3 Loretha

> > Myers,1 C. Klein,1 Guosheng Liu,3 Carla Calvi,2

> > Podowski,2 Enid R. Neptune,2 Marc K. Halushka,4 Djahida

> > Bedja,3 Kathleen son,3 B. Rifkin,5 Luca Carta,6

> > Francesco ,6 L. Huso,3 Harry C. Dietz1,2{dagger}

> > > > Aortic aneurysm and dissection are manifestations of Marfan

> > syndrome (MFS), a disorder caused by mutations in the gene

> > that encodes fibrillin-1. Selected manifestations of MFS

> > reflect excessive signaling by the transforming growth

> > factorâ€"ß (TGF-ß) family of cytokines. We show that aortic

> > aneurysm in a mouse model of MFS is associated with increased

> > TGF-ß signaling and can be prevented by TGF-ß antagonists such

> > as TGF-ßâ€"neutralizing antibody or the angiotensin II type 1

> > receptor (AT1) blocker, losartan. AT1 antagonism also

> > partially reversed noncardiovascular manifestations of MFS,

> > including impaired alveolar septation. These data suggest that

> > losartan, a drug already in clinical use for hypertension,

> > merits investigation as a therapeutic strategy for patients

> > with MFS and has the potential to prevent the major

> > life-threatening manifestation of this disorder.

> > > > 1 Medical Institute and Department of

> > Pediatrics, s Hopkins University School of Medicine,

> > Baltimore, MD 21205, USA.

> > 2 Department of Medicine, s Hopkins University School of

> > Medicine, Baltimore, MD 21205, USA.

> > 3 Department of Molecular and Comparative Pathobiology, s

> > Hopkins University School of Medicine, Baltimore, MD 21205, USA.

> > 4 Department of Pathology, s Hopkins University School of

> > Medicine, Baltimore, MD 21205, USA.

> > 5 Departments of Cell Biology and Medicine, New York

> > University School of Medicine, New York, NY 10016, USA.

> > 6 Child Health Institute of New Jersey, University of Medicine

> > and Dentistry of New Jerseyâ€" Wood Medical

> > School, New Brunswick, NJ 08903, USA.

> > > > * These authors contributed equally to this work.

> > > > {dagger} To whom correspondence should be addressed. E-mail:

> > hdietz@

> >

> > > > > > > > ---------------------------------

> ! GROUPS LINKS > > > Visit your group "infantile scoliosis treatment" on the web.

> >

[Guest guest]

i'm in Dallas.

Connie

Re: Jacki about Marfan Syndrom

Connie: Is that ish Rite in Atlanta? Where are you located?

Mayes

In Metro Atlanta

> > > >

> > > > i know that there is someone here whose child has marfan

> > > > syndrome or is suspected of having marfans. i saw this

> > > > article in science and thought it might be of interest.

> > > > > > > > deshea

> > > > > > > > Science 7 April 2006:

> > > > Vol. 312. no. 5770, pp. 117 - 121

> > > > DOI: 10.1126/science.1124287

> > > > > > > > Prev | Table of Contents | Next

> > > > Reports

> > > > Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a

> > > > Mouse Model of Marfan Syndrome

> > > > P. Habashi,1* P. Judge,2* Tammy M. Holm,1

> > > > D. Cohn,1 Bart L. Loeys,1 K. ,1,3 Loretha

> > > > Myers,1 C. Klein,1 Guosheng Liu,3 Carla Calvi,2

> > > > Podowski,2 Enid R. Neptune,2 Marc K. Halushka,4 Djahida

> > > > Bedja,3 Kathleen son,3 B. Rifkin,5 Luca Carta,6

> > > > Francesco ,6 L. Huso,3 Harry C. Dietz1,2{dagger}

> > > > > > > > Aortic aneurysm and dissection are manifestations of Marfan

> > > > syndrome (MFS), a disorder caused by mutations in the gene

> > > > that encodes fibrillin-1. Selected manifestations of MFS

> > > > reflect excessive signaling by the transforming growth

> > > > factorâ€"ÃÆ'Ÿ (TGF-ÃÆ'Ÿ) family of cytokines. We show that > aortic

> > > > aneurysm in a mouse model of MFS is associated with increased

> > > > TGF-ÃÆ'Ÿ signaling and can be prevented by TGF-ÃÆ'Ÿ > antagonists such

> > > > as TGF-ÃÆ'Ÿâ€"neutralizing antibody or the angiotensin II > type 1

> > > > receptor (AT1) blocker, losartan. AT1 antagonism also

> > > > partially reversed noncardiovascular manifestations of MFS,

> > > > including impaired alveolar septation. These data suggest that

> > > > losartan, a drug already in clinical use for hypertension,

> > > > merits investigation as a therapeutic strategy for patients

> > > > with MFS and has the potential to prevent the major

> > > > life-threatening manifestation of this disorder.

> > > > > > > > 1 Medical Institute and Department of

> > > > Pediatrics, s Hopkins University School of Medicine,

> > > > Baltimore, MD 21205, USA.

> > > > 2 Department of Medicine, s Hopkins University School of

> > > > Medicine, Baltimore, MD 21205, USA.

> > > > 3 Department of Molecular and Comparative Pathobiology, s

> > > > Hopkins University School of Medicine, Baltimore, MD 21205, > USA.

> > > > 4 Department of Pathology, s Hopkins University School of

> > > > Medicine, Baltimore, MD 21205, USA.

> > > > 5 Departments of Cell Biology and Medicine, New York

> > > > University School of Medicine, New York, NY 10016, USA.

> > > > 6 Child Health Institute of New Jersey, University of Medicine

> > > > and Dentistry of New Jerseyâ€" Wood Medical

> > > > School, New Brunswick, NJ 08903, USA.

> > > > > > > > * These authors contributed equally to this work.

> > > > > > > > {dagger} To whom correspondence should be addressed. E-mail:

> > > > hdietz@

> > > >

> > > > > > > > > > > > > > > > > > > > > > > > ---------------------------------

> > > ! GROUPS LINKS > > > > > > > > > Visit your group "infantile scoliosis treatment" on the web.

> > > > > >

[Guest guest]



connie....i saw the pipcture of your little one. he is an absolute cutiepatootie pie! he looks like is about to say something to make someone just start laughing :-)

tracey

Re: Jacki about Marfan Syndrom

Hi Kelli Siobhan was first dx with a "connective tissue disorder", but they only ever mentioned Marfan to me. I did lots of research on the net, and found Ehlors Danlos, Sticklers and Beals, but she didn't fit into them as well as Marfan.

Her skeletal characteristics are:

Very tall (always 97% percentile or more)

Super long fingers and toes!

Very long arms and legs (her arm span is greater than her height by a fair amount!)

Severly pronated feet

And of course her progressive scoliosis

She has recurring hernias

Her aorta is enlarged

Her eyes are fine

High arched palete

Hypermobility in some joints

All this didn't give her the dx, even though it nearly did! Dr D (in SLC) noticed a hip problem, where her hip joints are too "pushed in" to the sockets). This will be monitored and will cause problems later, but it did mean that she met the very strict criteria of dx.

The follow up continues, with yearly eye exams, and yearly echos. They have put her on a modified PE programme at school. I have to have echo's every 3-5 years too, so don't be surprised if they take a good look at you and Santi's dad!

Unfortunately, in terms of her scoliosis, they can't "fix" her connective tissues, or even stregthen them in the same way you can muscles. We tried casting with great results! That super flexible spine can be straighten so easily - too easily in fact! As soon as the casts came off, we lost most of the correction. We knew this all along, and were just bidding time until either she'd grown enough, or something better came along.

Well kelli, I've written a novel. Good luck with the testing on little Santi - Email me "off-list" if you want to chat more.....

Jacki

> >

> > i know that there is someone here whose child has marfan

> > syndrome or is suspected of having marfans. i saw this

> > article in science and thought it might be of interest.

> > > > deshea

> > > > Science 7 April 2006:

> > Vol. 312. no. 5770, pp. 117 - 121

> > DOI: 10.1126/science.1124287

> > > > Prev | Table of Contents | Next

> > Reports

> > Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a

> > Mouse Model of Marfan Syndrome

> > P. Habashi,1* P. Judge,2* Tammy M. Holm,1

> > D. Cohn,1 Bart L. Loeys,1 K. ,1,3 Loretha

> > Myers,1 C. Klein,1 Guosheng Liu,3 Carla Calvi,2

> > Podowski,2 Enid R. Neptune,2 Marc K. Halushka,4 Djahida

> > Bedja,3 Kathleen son,3 B. Rifkin,5 Luca Carta,6

> > Francesco ,6 L. Huso,3 Harry C. Dietz1,2{dagger}

> > > > Aortic aneurysm and dissection are manifestations of Marfan

> > syndrome (MFS), a disorder caused by mutations in the gene

> > that encodes fibrillin-1. Selected manifestations of MFS

> > reflect excessive signaling by the transforming growth

> > factorâ€"ß (TGF-ß) family of cytokines. We show that aortic

> > aneurysm in a mouse model of MFS is associated with increased

> > TGF-ß signaling and can be prevented by TGF-ß antagonists such

> > as TGF-ßâ€"neutralizing antibody or the angiotensin II type 1

> > receptor (AT1) blocker, losartan. AT1 antagonism also

> > partially reversed noncardiovascular manifestations of MFS,

> > including impaired alveolar septation. These data suggest that

> > losartan, a drug already in clinical use for hypertension,

> > merits investigation as a therapeutic strategy for patients

> > with MFS and has the potential to prevent the major

> > life-threatening manifestation of this disorder.

> > > > 1 Medical Institute and Department of

> > Pediatrics, s Hopkins University School of Medicine,

> > Baltimore, MD 21205, USA.

> > 2 Department of Medicine, s Hopkins University School of

> > Medicine, Baltimore, MD 21205, USA.

> > 3 Department of Molecular and Comparative Pathobiology, s

> > Hopkins University School of Medicine, Baltimore, MD 21205, USA.

> > 4 Department of Pathology, s Hopkins University School of

> > Medicine, Baltimore, MD 21205, USA.

> > 5 Departments of Cell Biology and Medicine, New York

> > University School of Medicine, New York, NY 10016, USA.

> > 6 Child Health Institute of New Jersey, University of Medicine

> > and Dentistry of New Jerseyâ€" Wood Medical

> > School, New Brunswick, NJ 08903, USA.

> > > > * These authors contributed equally to this work.

> > > > {dagger} To whom correspondence should be addressed. E-mail:

> > hdietz@

> >

> > > > > > > > ---------------------------------

> ! GROUPS LINKS > > > Visit your group "infantile scoliosis treatment" on the web.

> >

[Guest guest]

No problem at all. I hope they get back with you soon. If not, I have an email address for one of the assistants there who is very good at communicating with me. Or, the next time you call, ask for Hope Trevino. Lori Buegeler is the nurse case manager who does all the scheduling, but she is sometimes hard to get a hold of because she is so busy!!! Hope can answer some questions, or catch Lori and get them answered for you. Let me know if there is anything else I can do. Shellietovi39@... wrote: Thanks Shellie, I called The Childrens hospital in San and am waiting for them to call me back with an appointment. Connie -----Original

Message-----From: Shellie Grant <shelliegrant@...>infantile scoliosis treatment Sent: Wed, 17 May 2006 12:38:23 -0700 (PDT)Subject: Re: Re: Jacki about Marfan Syndrom Connie, You can find contact information for the inventor of the Veptr, Dr. , at www.veptr.com in the locations section. He is at Christus Santa Children's Hospital in San , Texas. I would check out all avenues before committing to such a permanent surgery as rods. My daughter Moriah went through two halos. We were told by two seasoned orthopedic surgeons at two different hospitals that she was not a candidate for the Veptr. We went straight to the inventor for an assessment to be sure. We chose the Veptr over a rod that would not expand, and that they could not assure us would even control her curve. She has two VEPTR hybrids, one on each side. It has not only maintained her curve, but improved it. She was 130 scoliosis, 130 kyphosis at

her worst. Her story is at www.infantilescoliosis.org. Glad you have found this list and all these wonderful Moms. We just try to help each other. Shellie Grant tovi39@... wrote: From what I understand at this point is that the dilation of the aorta is usually the major problem in LDS. Same is true in Marfans and Beals however they are finding that people with LDS get dissection in their Aorta sooner then the other two, even when the enlargement is the same size. is doing fine, thanks for asking, he had ASD repair surgery one month ago and is doing great. We also went to ish Rite yesterday and Our Orthopedic Surgeon wants to get the ball rolling on the halo traction followed by rod surgery. For some reason our doc seems to think that should not do the VEPTR procedure. He said something about the veptr and harrington rod both being placed???!!! I'm not sure how much faith I have in this doc. I am confused right now. We're are really considering going to San . I'll keep you posted. Connie -----Original

Message-----From: jabostock <jabostock (DOT) ca>infantile scoliosis treatment Sent: Wed, 17 May 2006 18:02:04 -0000Subject: Re: Jacki about Marfan Syndrom Hi Connie Good to hear from you again. I have heard of Loeys-Dietz! I thought I read that with LD there were quite significant heart involvement? Is that right?

And is doing OK? Jacki > > > > > > i know that there is someone here whose child has marfan > > > syndrome or is suspected of having marfans. i saw this > > > article in science and thought it might be of

interest. > > > > > > deshea > > > > > > Science 7 April 2006: > > > Vol. 312. no. 5770, pp. 117 - 121 > > > DOI: 10.1126/science.1124287 > > > > > > Prev | Table of Contents | Next > > > Reports > > > Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a > > > Mouse Model of Marfan Syndrome > > > P. Habashi,1* P. Judge,2* Tammy M. Holm,1 > > > D. Cohn,1 Bart L. Loeys,1 K. ,1,3 Loretha > > > Myers,1 C. Klein,1 Guosheng Liu,3 Carla Calvi,2 > > > Podowski,2 Enid R. Neptune,2 Marc K. Halushka,4 Djahida > > > Bedja,3 Kathleen son,3 B. Rifkin,5 Luca Carta,6 > > > Francesco ,6 L. Huso,3 Harry C. Dietz1,2{dagger} > > > > > > Aortic aneurysm and dissection are manifestations of Marfan > > > syndrome (MFS), a disorder caused by mutations in the gene > > > that encodes fibrillin-1. Selected manifestations of MFS > > > reflect excessive signaling by the transforming growth > > > factorâ€"ß (TGF-ß) family of cytokines. We show that aortic > > > aneurysm in a mouse model of MFS is associated with increased > > > TGF-ß signaling and can be prevented by TGF-ß antagonists such > > > as

TGF-ßâ€"neutralizing antibody or the angiotensin II type 1 > > > receptor (AT1) blocker, losartan. AT1 antagonism also > > > partially reversed noncardiovascular manifestations of MFS, > > > including impaired alveolar septation. These data suggest that > > > losartan, a drug already in clinical use for hypertension, > > > merits investigation as a therapeutic strategy for patients > > > with MFS and has the potential to prevent the major > > > life-threatening manifestation of this disorder. > > > > > > 1

Medical Institute and Department of > > > Pediatrics, s Hopkins University School of Medicine, > > > Baltimore, MD 21205, USA. > > > 2 Department of Medicine, s Hopkins University School of > > > Medicine, Baltimore, MD 21205, USA. > > > 3 Department of Molecular and Comparative Pathobiology, s > > > Hopkins University School of Medicine, Baltimore, MD 21205, USA. > > > 4 Department of Pathology, s Hopkins University School of > > > Medicine, Baltimore, MD 21205, USA. > > > 5 Departments of Cell Biology and Medicine, New York > > > University School of Medicine, New York, NY 10016, USA. > > > 6 Child Health Institute of New Jersey, University of Medicine > > > and Dentistry of New Jerseyâ€" Wood Medical > > > School, New Brunswick, NJ 08903, USA. >

> > > > > * These authors contributed equally to this work. > > > > > > {dagger} To whom correspondence should be addressed. E-mail: > > > hdietz@ > > > > > > > > > > > > > > > > > > > --------------------------------- > > ! GROUPS LINKS > > > > > > Visit your group "infantile scoliosis treatment" on the web. > > > >