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Subject:
From:
"Kendall D. Corbett" <[log in to unmask]>
Reply To:
Cerebral Palsy List <[log in to unmask]>
Date:
Fri, 12 Mar 2010 12:18:38 -0700
Content-Type:
text/plain
Parts/Attachments:
text/plain (244 lines)
Jes,

My parent's were given the option of not treating my underlying condition
(hydrocephalus, which likely caused my CP)  and "letting nature take it's
course," which meant I would likely have died in infancy.  They were strong
advocates, and I'm now a college graduate, fully employed, and married, so
when parents are told "life expectancies," I tend to get a little hot under
the collar.

Beth's advice to get in touch with the Part C coordinator in your state is
great! Get in touch through your local school district's Special Ed
department, or the state department of education.

Also, get in touch with the UCEDD in your state.  UCEDD's are University
Centers of Excellence in Developmental Disabilities,  In Michigan, it's at
Wayne State, and the person you want to contact is Elizabeth Janks.  She is
their parent/consumer contact and also works with their early intervention
programs.  I'm the family co-chair of of the Council on Community Advocacy
(COCA) of the national association of UCEDDs (my wife also has CP - and a
Masters degree in Education), and have met Elizabeth through that Council.
     Elizabeth Janks, MSW, ACSW Developmental Disabilities Institute
Developmental
Disabilities Institute Wayne State University 4809 Woodward Avenue 268
Leonard N. Simons Building Detroit, MI 48202   Phone: 313-577-6368 The web
site is: http://www.ddi.wayne.edu/

[log in to unmask] <[log in to unmask]>






 I work for the UCEDD in Wyoming, and we have pretty good services
available, but because of the economy, we have waiting lists, too.  Our
economy seems to be in somewhat better shape than Michigan, but we still
have 7%+ unemployment.

Let me know if I can help in any other way!

Kendall

An unreasonable man (but my wife says that's redundant!)

The reasonable man adapts himself to the world; the unreasonable one
persists in trying to adapt the world to himself. Therefore, all progress
depends on the unreasonable man.

-George Bernard Shaw 1856-1950




On Thu, Mar 11, 2010 at 1:00 PM, Jessica Shallow <[log in to unmask]>wrote:

> Hello All,
>
>  I am not sure how I started to get your email but I am looking for some
> advice and help. I have a 4months old baby boy who has been diagnosed with
> Spastic Quadriplegia CP. He is developmentally delayed,vision impaired, now
> is having seizures and they are telling me his life span is between 15 and
> 20yrs old. His injury is very severe and everyone is worried! Here in
> Michigan the waiting lists are very long to get any help. The therapy we do
> receive I do not feel like is helping him. They will not do anything with
> him since he can not hold his head up. I am looking for any advice or any
> where in the US that can possibly help us. I want to help my son in every
> and any way.
>
> Thank you,
> Distraught mother-Jessica
>  ~ ~ Jes ~ ~
>
>
>
>
>
> ________________________________
> From: Meir Weiss <[log in to unmask]>
> To: [log in to unmask]
> Sent: Thu, March 11, 2010 1:54:56 PM
> Subject: FW: HEREDITARY CONDITION CAUSING LIMB WEAKNESS TRACED TO GENE FOR
> RARE DISORDER
>
> -----Original Message-----
> From: NIH news releases and news items [mailto:[log in to unmask]] On
> Behalf Of NIH OLIB (NIH/OD)
> Sent: Thursday, March 11, 2010 1:43 PM
> To: [log in to unmask]
> Subject: HEREDITARY CONDITION CAUSING LIMB WEAKNESS TRACED TO GENE FOR RARE
> DISORDER
>
> U.S. Department of Health and Human Services
> NATIONAL INSTITUTES OF HEALTH NIH News
> Eunice Kennedy Shriver National Institute of Child Health and Human
> Development (NICHD) <http://www.nichd.nih.gov/>
> For Immediate Release: Tuesday, Thursday, March 11, 2010
>
> CONTACT: Robert Bock or Marianne Glass Miller, 301-496-5133, <e-mail:
> [log in to unmask]>
>
> HEREDITARY CONDITION CAUSING LIMB WEAKNESS TRACED TO GENE FOR RARE DISORDER
>
> A gene that causes a fatal childhood brain disorder can also cause adults
> to
> develop peripheral neuropathy, a condition resulting in weakness and
> decreased sensation in the hands and limbs, according to a study by
> researchers at the National Institutes of Health and other institutions.
> The study is the first to show that different mutations in the same gene
> cause the two seemingly unrelated disorders.
>
> Inherited peripheral neuropathies are a diverse group of disorders that
> cause loss of muscle tissue in the hands, feet, and lower legs of affected
> patients, usually starting in adulthood. Various genetic causes have been
> identified for Charcot-Marie-Tooth disease (CMT)
> <http://www.nature.com/ejhg/journal/v17/n6/pdf/ejhg200931a.pdf.>, the
> broad
> category of inherited peripheral neuropathy that affects approximately
> 125,000 people in the United States.  The peripheral nervous system
> consists
> of nerves that reside or extend outside of the brain and spinal cord.
>
> In the current study, the researchers determined that persons with a
> CMT-like neuropathy have a mutation in the same gene that causes Menkes
> disease, a severe brain disorder that begins in infancy and is fatal if not
> treated. This gene, called ATP7A, codes for a protein needed to move the
> trace metal copper between different compartments within the body's cells,
> or out of cells altogether.
>
> "The findings provide insight into how peripheral nerves function and may
> ultimately lead to new treatments for some peripheral neuropathies," said
> Alan E. Guttmacher, M.D., acting director of the Eunice Kennedy Shriver
> National Institute of Child Health and Human Development (NICHD), the NIH
> Institute that collaborated in the study.
>
> The findings appear in the March 12 American Journal of Human Genetics. The
> study's first author was Marina L. Kennerson, Ph.D. of the ANZAC Research
> Institute, University of Sydney, Australia.  Another senior author was
> Stephen G. Kaler, M.D., head of the Unit on Human Copper Metabolism at the
> NICHD's Molecular Metabolism Program.  The NICHD provided funding for the
> NIH-based portion of the research.
>
> Drs. Kennerson, Kaler, and their colleagues discovered the mutated gene's
> role in distal motor neuropathy by studying the DNA of two large, unrelated
> families with multiple affected members.  Changes in the DNA of the family
> members who had the disorder did not appear in the DNA of those who did not
> have the disorder.  Dr. Kaler's Unit at the NICHD helped to identify the
> location of the ATP7A protein inside human skin cells from patients and
> characterized the nature of the mutations in the gene. The mutations
> causing
> distal motor neuropathy appeared to have much lesser effects than did the
> mutations found in the infants with Menkes disease.
>
> Menkes disease arises from other mutations in the same gene, which make the
> resulting protein unable to fulfill its usual function-transporting copper.
> As a result, children with Menkes disease have abnormal levels of copper:
> low levels in the blood, the brain and liver, as well as excess amounts in
> the kidneys and intestines.
>
> But people with distal motor neuropathy do not have abnormal copper levels,
> Dr. Kaler and his colleagues found. The mutations that cause distal motor
> neuropathy do not eliminate the protein's function completely-the protein
> maintains about 70 percent of its normal ability to move copper. Still, the
> researchers found subtle abnormalities in how the protein itself moves
> within a cell. The abnormalities apparently affect people's motor neurons,
> the nerve cells in the spine that control muscles.
>
> "The ATP7A protein has at least two distinct roles in the nervous system,"
> Dr. Kaler said. "We knew it was critical for central nervous system
> development. But, before now, there had been no evidence that it played an
> important role in the function of motor neurons in the peripheral nervous
> system."
>
> Dr. Kaler and colleagues intend to study the mechanism of how the newly
> discovered mutations cause the disorder, in hopes of eventually developing
> treatments.
>
> The NICHD sponsors research on development, before and after birth;
> maternal, child, and family health; reproductive biology and population
> issues; and medical rehabilitation.  For more information, visit the
> Institute's Web site at <http://www.nichd.nih.gov/>.
>
> The National Institutes of Health (NIH) -- The Nation's Medical Research
> Agency -- includes 27 Institutes and Centers and is a component of the U.S.
> Department of Health and Human Services. It is the primary federal agency
> for conducting and supporting basic, clinical and translational medical
> research, and it investigates the causes, treatments, and cures for both
> common and rare diseases. For more information about NIH and its programs,
> visit <www.nih.gov>.
>
> ##
>
> This NIH News Release is available online at:
> <http://www.nih.gov/news/health/mar2010/nichd-11.htm>.
>
> To subscribe (or unsubscribe) from this list, go to
> <http://service.govdelivery.com/service/subscribe.html?code=USNIH_1>.
>
>
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