Candice Lange

http://onlinelibrary.wiley.com/doi/10.1111/j.1365-2788.2011.01393.x/full

A study in the January 2012 issue of Journal of Intellectual Disability Research by researchers affiliated with Ghent University (Belgium) examined quality of life from a sibling, rather than a family perspective, using in-depth interviews. Authors report that siblings' definitions of quality of life differ from a family quality of life concept. Full text is available at no cost.

Dr. Dobyns moved his research lab and all projects to Seattle, WA in 2010.

2012 Update:

Yes, Dr. Dobyns is still doing research on pachygyria as well as providing free reviews of MRI’s. The information is on the website or you can contact Hailly directly. The website has the MRI request information listed.

Hailly Butler, BS, CCRP
Clinical Research Associate
Seattle Children¹s Hospital Research Institute
Center for Integrative Brain Science
1900 Ninth Avenue Mailstop C9S-10
Seattle WA 98101

(206) 884-1277 office
(206) 884-1210 fax

hailly.butler@seattlechildrens.org

NEW Website http://depts.washington.edu/dlab/home.php

The website also lists interesting information on Dr. Dobyns research, publications and so much more.

Alternative Medicine Review 2007 (Mar); 12 (1): 9–24

This article reviews research on the use of diet, nutritional supplements, and hormones in the treatment of epilepsy. Potentially beneficial dietary interventions include identifying and treating blood glucose dysregulation, identifying and avoiding allergenic foods, and avoiding suspected triggering agents such as alcohol, aspartame, and monosodium glutamate. The ketogenic diet may be considered for severe, treatment-resistant cases. The Atkins diet (very low in carbohydrates) is a less restrictive type of ketogenic diet that may be effective in some cases. Nutrients that may reduce seizure frequency include vitamin B6, magnesium, vitamin E, manganese, taurine, dimethylglycine, and omega-3 fatty acids.

http://www.chiro.org/research/ABSTRACTS/Epilepsy.shtml

UK Cortical Malformation Research

A research group at the MRC Centre for Neuropsychiatric Genetics and Genomics in Cardiff, UK, have a project looking into the genetic causes of cortical malformations (including pachygyria, but also lissencephaly, polymicrogyria and grey matter heterotopias):

http://medicine.cf.ac.uk/en/research/research-groups/cngg/participate-research/gldecm/

People can get in contact if they would like more information or to enquire about participation (contact details on website).

If your child has been diagnosed with pachygyria, it is very important to have either Dr. Dobyns or Walsh Laboratory review the findings for a second opinion. It is common for this to be misdiagnosed. Both of the doctors are leading experts in the world on pachygyria.

As part of Walsh Lab's screening for studies they do review MRI imaging without charge.

Details they request include copies of MRI images (CD) and some abbreviated medical records, particularly the results of previous genetic testing and notes from visits with neurologists and geneticists and the completion of study specific screening forms that are provided to families (and may eventually be posted on their updated site).

Once they have all of this information it can take a few weeks for everyone to have a chance to review the details and offer suggestions. They always encourage families to check back in if they are wondering about the status to ensure the documents and MRI actually arrived.

If their research is determined to be appropriate for a family after this screening, participation involves providing a DNA sample, usually by giving a small amount of blood, as well as sharing information about medical and family history. They request DNA samples from affected individuals as well as their parents and healthy siblings, whenever possible. Reading and signing a research consent form is required before enrollment.

Walsh Labs do continue longstanding work and collaboration with Dr. Dobyns, though they each also have their own separate study protocols.

Walsh Labs doesn't offer fee for service formal readings of MRIs. You can receive their opinion on the MRIs and then choose if you would like to participate in the study at that time.

Standard Mailing Address:

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.”

Genomics.energy.gov which also contains information on the Human Genome Project, Genomics:GTL and Microbial Genome Program has information on different clinical trial resources and guidelines at http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/diseaseindex.shtml#trials.

A benefit of participating in a research study is a second opinion on the medical information you have gathered.

We found Dr. Dobyns at University of Chicago through www.clinictrials.gov and found out Corey's current MRI was incorrectly diagnosed by an easy mistake. Dr. Dobyns and also Dr. Walsh and Dr. Chang at Walsh Laboratory reviewed his MRI for free and found the paracentral pachygyria, which is fewer folds in the brain. Our local MRI reader said it was perisylvian syndrome, which is many folds in the brain. It is really close but still different.

Doctors from the research studies have expertise in that area of study and may be able to give the second opinion to either confirm the current diagnosis or give you the correct one. Corey's condition is so rare our top doctors in the area had not seen it before. The research doctors were also able to connect us with the few others that had the similar diagnosis.

The drawback to some research is that a free review may take months for a reply. If a quick review is needed then I was told Dr. Dobyns can review MRIs for $150. You would need to ask for a current pricing and the process.

When you log onto Clinicaltrials.gov there are thousands of studies being done for everything over the world. It is best to narrow your search as much as possible including the age range and condition. Request only active or open studies. They are even looking for healthy participants on some studies. Each research program will list its requirements, purpose and contact information. You do not have to live near many of these programs and some will pay all expenses to travel if needed.

I hope this helps you find answers and make connections with others.

What an incredible feeling I am experiencing. An hour ago I spoke with the mom of another boy who is similar to Corey's MRI. Before I felt like we didn't quite fit in anywhere and now Corey is not "alone" in his diagnosis. I laugh as I think of her telling me about her son with so many things as if she was talking about Corey. In this short amount of time we have exchanged our family pictures, stories, laughter and sadness, and hope to meet sometime soon.

Where do I begin telling you our story. I'll shorten it to this story and maybe someday the others can be shared.

A friend asked me if one of her friends could contact me for information on special needs. Her daughter was new to regressive autism and wanted to learn as much as she could. However, in our conversation she helped me more than I could ever imagine.

She had found out about www.clinicaltrials.gov through a family member who had cerebral palsy and went through a trial. This person was loosing their ability to walk and had a new surgery which saved his walking to this day. Everything was free to him and he was treated very well. She went onto the site and found a study on regressive autism and her daughter just being diagnosed was place in the study in another state. Her whole family was flown to the clinic and given royal treatment. Her daughter and her now fly alone several times a year to participate - all at the clinical trials expense. She has learned so much about her daughter's condition and her daughter is receiving the most current care in the field.

After hearing her story, I got off the phone and typed in clinicaltrials.gov. I did a specific search for "children, seizures" and found 65 trials being done worldwide. None of them were of interest to me so I typed other words and found the clinical trial that brings me to writing this story.