Candice Lange

Another reason to have Dr. Dobyns, Dr. Chang or Walsh Lab evaluate your MRIs - Pachygyria is often misdiagnosed.

2010 Update:

August 12 - Today, I had a meeting with Mary's neurologist, and Mary's MRI was NORMAL!! God is so good. We are so blessed with this wonderful news!

There is no evidence of cortical dysplasia. The neurologist who also instructs neurologists at St. Joseph's and Hoag Hospitals is taking Mary's case to their "round table" meetings, to show that miracles DO happen!!

The only issue now (from her PET Scan) is that her right brain is smaller in all lobes (frontal, parietal, temporal and occipital) and there is a decrease in cortical metabolism.

Mary's neurologist said by the time she is 18, her brain will be normal. The neuro said she just HAD to call me in and see my face with this great news!

Mary was first diagnosed with Pachygyria. Then, a refined diagnosis (better radiologist) of Bilateral Perisylvian Polymicrogyria Grade IV. This was reconfirmed at the Children with Micro Conference (Dr. Dobyns and Dr. Chang were there for medical clinic for us and read our MRIs on a personal basis) with the added Worster-Drought Syndrome. This made COMPLETE sense and followed her signs and symptoms so specifically, it was almost weird (locked jaw, small jaw, severe feeding issues, weight gain, etc). But, she kept improving, which some children do. Speech and eating are her main issues, along with the dental problems. Bridget is continuing with Mary's homeschooling (which has worked so well) and upping the intensity!!

Bridget
lodge.mark@hotmail.com

You may write to Bridget directly if related to Pachygyria. Thank you.

Are you proud of your child's accomplishments? Do you want to show off how adorable your child is? You have captured special moments and accomplishments, so let us help you celebrate your child.

Send P2P your photos and you will be entered in our monthly photo contest. Winning photos will be displayed on the P2P website! Each month has a special category. You may submit your photos at any time during the year- just let us know the category you believe your photo qualifies. Each month a winner (or possibly winners) will be selected.

The person submitting a winning photo will receive a $50 gift card from P2P.

So get your photos in! Go to the link below for the rules and release form.
http://www.p2pga.org/index.php?option=com_content&view=article&id=109

Release Form: http://www.p2pga.org/images/stories/pdf/PhotoContest.pdf

or visit the Parent to Parent of Georgia website at www.p2pga.org and click on Photo Contest (lower right).

A friend told me about this camp her daughter participated in 2010. The application is long but worth every minute spent on it and check the immunization requirements to make sure your comfortable with it before filling out the paperwork. The 12 year old friend had a fabulous time and the camp itself is amazing. Worth checking it out!

They start accepting applications in November of the previous year.

Camp Facts
As listed on their website: http://www.victoryjunction.org/

* Victory Junction has enriched the lives of more than 11,000 children and families since opening in 2004 and welcomed children from 47 states and three countries.

*The cost of sending a child to camp is valued at $2,500, but no child or family incurs that cost thanks to generous donors.

*Since 2004, 9,234 volunteer positions have been filled. Last year, volunteers sacrificed an estimated 76,222 hours to assist at Victory Junction.

*Victory Junction serves 24 chronic medical conditions and serious illnesses such as, but not limited to, Autism, Cancer, Craniofacial Anomalies, Diabetes, Hemophilia, Sickle Cell and Spina Bifida. For a full list, please visit www.victoryjunction.org.

*Twenty-seven hospitals partner with Victory Junction to deliver exceptional health care to campers with a variety of needs.

*The camp, located in Randleman, N.C., is built on 84 acres and donated by Richard and Lynda Petty. The Kansas facility will be housed on approximately 71 acres.

*The construction process for the Midwest camp is expected to begin in 2010.

GOD Can Turn A

MESS into a MESSage,

a TEST into a TESTimony,

a TRIal into a TRIump,

a VICTim into a VICTory

Malformations of Cortical Development (MCD)

Different types of MCD are recognized based on anatomy. They carry names like microcephaly (small brain and head), schizencephaly (fluid filled clefts in the brain), pachygyria (a cortex with thicker, fewer folds) and polymicrogyria (cortex with many small folds).

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This information comes from the article posted at:
http://www.nih.gov/news/health/aug2010/ninds-22.htm?utm_source=twitterfeed&utm_medium=twitter

Embargoed for Release
Sunday, August 22, 2010
1 p.m. EST

Contact:
National Institute of Neurological Disorders and Stroke (NINDS)
National Center for Research Resources (NCRR)
National Institute of Mental Health (NIMH)

Gene scan finds link across array of childhood brain disorders

Mutations in a single gene can cause several types of developmental brain abnormalities that experts have traditionally considered different disorders. With support from the National Institutes of Health, researchers found those mutations through whole exome sequencing — a new gene scanning technology that cuts the cost and time of searching for rare mutations.

Brain scans of a healthy child (left) and a child with microcephaly, polymicrogyria and schizencephaly. Courtesy of Murat Gunel, M.D., Yale University. “This is going to change the way we approach single-gene disorders,” said lead investigator Murat Gunel, M.D., who is chief of the Neurovascular Surgery Program and co-director of the Program on Neurogenetics at Yale University in New Haven, Conn. Whole exome sequencing can be applied to dozens of other rare genetic disorders where the culprit genes have so far evaded discovery, he said.

Such information can help couples assess the risk of passing on genetic disorders to their children. It can also offer insights into disease mechanisms and treatments.

The research is funded in part by a $2.9 million stimulus grant from NIH’s National Institute of Neurological Disorders and Stroke (NINDS) made possible by the American Recovery and Reinvestment Act.

“This study demonstrates a powerful new tool for discovering the cause of tough-to-crack genetic disorders,” said NINDS director Story Landis, Ph.D. “It also exemplifies how Recovery Act support to the NIH community is successfully driving biomedical technology and innovation.”