Hi, Jessica,

Welcome to the list. I'm  Kat, list mod and a CP myself.

I agree with everyone else - DON'T PANIC.  Beth's got some really good
advice and I agree it's way too early to be thinking of putting your boy
into a home.  You need to get a doctor who's worked a lot with CP kids and
they will be better than the doomsayer you've got.

I was three months premature and weighed just under two pounds when i was
born - doctor didn't think I'd live beyond a day, or go to school, or work
or drive, etc.,etc.  I'm almost 57 and have proved every single of those
prognoses wrong.  I think it's mainly because my parents never took "no" for
an answer and pushed me to achieve the best I could and let me handle my
problems myself; i.e., didn't coddle me.

Anyway, I think the key here is optimism - don't give up!

Kat

On Thu, Mar 11, 2010 at 3:00 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
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