Posted by Kristal Louie on Fri, Apr 30, 2010 @ 06:39 PM
Giving Life - Moms with Spina Bifida
I recently read an encouraging article published November 2009 in Cerebrospinal Research. A group of researchers from Europe followed four women throughout their pregnancies and deliveries. Two of the mothers had shunts and neither had any problems throughout the study. Of the four, none experienced any significant problems other than one mother with urinary tract infections (which she had experienced prior to pregnancy as well). All of the infants were delivered successfully by elective cesarean section. Although this was a small study, with only 4 participants, the conclusions were quite positive.
After reading that article I decided to find out more. I was discouraged by the lack of recent data available. However I found an abstract in the September 2000 issue of Journal of Reproductive Medicine. Researchers from Australia completed a retrospective (that means after the fact) study on 17 women with spina bifida who had a total of 29 pregnancies. Similar findings were reported in that the only significant problems reported were recurrent urinary tract infections in women who previously had urinary tract infections and worsening of pre-existing pressure sores. Of the five women who participated that were wheelchair bound, four had cesarean sections. Of the 24 women who were independently mobile, 8 had cesarean sections. Other than minor post-operative complications, the pregnancies and deliveries were very successful.
I learned some very interesting and encouraging findings from the articles and I hope you are able come away with your own interpretation whether it is the same as mine or not.
Kristal
www.sbgenetics.org
support@sbgenetics.org
Posted by Kristal Louie on Wed, Apr 14, 2010 @ 06:29 PM
Greatness
Somebody tipped me off to a great site. On the Children and Adults with Spina Bifida & Hydrocephalus site, they have a long list of people who have great accomplishments. These individuals either have spina bifida or a loved one with spina bifida. Why don't you check out the page to see how many names you recognize? If you know of someone who needs some encouragement maybe they can find a role model. Robert Hensel, an international poet & writer, completed a non-stop wheelie in his chair for over 6.178 miles !!!
One note it may not be suitable to view the page for the first time with young children. One of the featured famous people is the renowned female artist Frida Kahlo, who is rumored to have had spina bifida. One of Frida Kahlo's paintings is displayed that may not be appropriate for young eyes.
Kristal
www.sbgenetics.org
support@sbgenetics.org
Posted by Bruce Cohen on Thu, Mar 11, 2010 @ 11:23 AM
We began our groundbreaking study with high hopes of doing something never done before – recruit 1,000 women and their children who have Spina Bifida, to participate in a worldwide effort to understand the genetics of folate metabolism and the risks of Spina Bifida. When we started, we weren’t sure how long it would take, or how hard it would be.
Thanks to a truly extraordinary effort from people in 47 states and 17 countries and with the enthusiastic support of the Spina Bifida community, we’re delighted to let you know that we are nearly there. More than 1,000 women have signed up on our secure web site and more than 700 women and their children have completed the enrollment process by sending in saliva samples with consent forms. That is amazing.
Many have asked when we will complete the study. Some participants mail back their saliva kits after a few days, and others take several weeks. Recently we received a sample sent out 5 months ago! Regardless of how long it takes, we are grateful that the kits are sent in. We are very proud of all the hard work done because we understand how busy everyone is, and we can see the finish line just ahead. However we’re not done until we have 1,000 consented samples. Because we cannot predict how many participants will complete the process and how long everyone will take, we are continuing to enroll new participants and send reminders (we hope not too many!).
Once we have reached our ambitious goal, full analysis of the data should take about two months. Then the results will be submitted to a scientific journal for peer review. In another blog we’ll talk about the analysis and how studies like this are reviewed by experts before the results are published. The publication process can be frustrating for participants because we are not allowed to discuss the results during the reveiw period. We hope everyone understands that scientific research takes time, and with something as important as this, it’s essential that our work is done carefully and consistent with high quality medical research.
So, if you’ve done the survey on the web site, but haven’t had a minute to send in your kits, please do so as soon as you can. If you have any questions, or need a swab kit, don’t hesitate to contact us at 1.866.575.0110 or support@sbgenetics.org.
Most importantly, a big and heartfelt THANK YOU to everyone who has taken us this far.
www.sbgenetics.org
support@sbgenetics.org
Posted by Kristal Louie on Wed, Mar 03, 2010 @ 04:41 PM
Spina Bifida Association Young Investigator Award
Please pass this information along to all of the health care providers involved in your child's care.
The SBA's Young Investigator Award will grant up to 3 research fellowships in the area of spina bifida research. Those eligible must be newly independent researchers (MD, PhD, DSW, DScN) in established research facilities. Prior research for the applicant does not have to be in the field of spina bifida. Researchers must be US citizens. Those who have held the title of Assistant Professor (or equivalent) for >2 years at the start of the fellowship are NOT eligible.
- The ASHLEE ROSE ADVANCEMENT IN RESEARCH will grant up to $50,000 USD. Area of interest relates to epidemiology and miscarriage due to neural tube defects.
- The TETHERED CORD RESEARCH AWARD will grant up to $40,000 USD. Area of interest relates to tethered cord syndrome.
- The SCHNEIDER CHARITABLE TRUST AWARD will grant up to $25,000 USD. Area of interest relates to bladder/bowel continence.
Dead line for application is 9pm 5/1/2010. Proposals will be reviewed by a team of scientists and clinicians familiar with the field of spina bifida research.
For more information or to obtain an application form, go to this link at the SBA Website.
www.sbgenetics.org
support@sbgenetics.org
Posted by Kristal Louie on Fri, Jan 22, 2010 @ 03:04 PM
Blog 1: It's in my DNA
We've heard from many of our study participants that spending some blog time on a "refresher" in genetics would be welcome. Some mothers in the SB Genetics Research Project have realized that much of what they once learned in Biology class has been long forgotten. To help jog your memory, we are starting a series of blogs simply called "Genetics 101" - not the most creative, but it get's the point across. Before I start, let me introduce myself. My name is Dennis Gilbert; I have a Ph.D. in Genetics from Johns Hopkins University and am one of the Principal Investigators for the SBGenetics Research Project.
Most simply, genetics is the science of heredity and variation. Studying genetics allows us to better understand the way in which similar characteristics among family members are maintained, and why differences between individuals occur. Geneticists examine a wide variety of inherited traits in a wide range of organisms, from fruit production in trees to metabolic diseases in humans. People who study genetics do so in a wide variety of situations, from research laboratories (like the SB Genetics Research Project) to pharmaceutical companies to crop fields. Being a geneticist nowadays is extremely exciting and rewarding as new breakthroughs that really make a difference in people's lives are consistently being made.
It's in my DNA! We've heard this expression a lot and probably have used it ourselves a few times. But, what is DNA?
DNA, or deoxyribonucleic acid, is a nucleic acid - a chemical compound that contains the genetic instructions for the development and functioning of all living organisms. The main role of DNA molecules is to ensure the long-term storage of our genetic information. DNA is often compared to a set of blueprints or a recipe, or a code, since it contains the instructions needed to construct other components of cells, such as RNA and protein molecules. DNA is found in almost every cell within the human body - from the white cells in your blood to the cheek cells in your mouth. Once the sequence of your DNA has been determined, as a combination of half the DNA of each of your parents, it does not change over your lifetime.
Chemically, DNA consists of two long chains of simple units called nucleotides, named for one of four types of molecules called bases. The four bases found in DNA are adenine (abbreviated A), cytosine (C), guanine (G) and thymine (T). It is the sequence, or order, of these four bases along the DNA chain that encodes your genetic information. There are approximately 3 billion bases in each of our cell that make up "my DNA". For illustrations and more details, the National Genome Research Institute has an excellent fact sheet.
Did you know? For many years after the discovery of DNA, most scientists remained convinced that proteins, not DNA, were the carriers of our genetic information. Why? It boiled down to the numbers. It was known that proteins were made of 20 different amino acids whereas DNA was made of only four different nucleotides. Thus, it makes some sense, then, that proteins could code for MUCH greater variety with their 20 amino acids than DNA could with its four nucleotide sequence. And the code for the complete set of instructions for human life would need enormous complexity and variety. As I'll discuss in a later blog, this great variety comes from how the code is read and then used by our body to transmit the genetic instructions. In 1952, Alfred Hershey and Martha Chase conducted what are now called the "blender experiments" to prove that DNA was indeed the genetic material and put the controversy finally to rest.
www.sbgenetics.org
support@sbgenetics.org
Posted by Kristal Louie on Fri, Jan 15, 2010 @ 02:35 PM
Abigail Branson Not Limited by Spina Bifida.
Extraordinary Measures, the CBS movie starring Brendan Fraser and Harrison Ford, is set for release on January 22, 2010. Extraordinary Measures is based on the true story of a family who is diagnosed with a genetic condition called Pompe Disease and how they fight for a better quality of life. CBS is taking the theme of the movie one step further by donating $10 000 to a charity chosen by the Inspirational Quilt sweepstakes winner. The Inspirational Quilt is a collection of videos uploaded by people who have triumphed over various medical and developmental challenges. Abigail Branson's video Abigail Branson Not Limited by Spina Bifida is her story of how she has achieved more than what some thought possible. If the video is chosen as the winner, the donation will go towards the Spina Bifida Association. It is a wonderful profile of this remarkable girl and her family. Please consider viewing her video and voting before February 1, 2010 to help her win the sweepstakes!
The video can be found at the following link. The videos are randomly shuffled on each page so use the "search" function at the bottom of the Inspirational Quilt page to find hers.
Kristal
www.sbgenetics.org
support@sbgenetics.org
Posted by Kristal Louie on Fri, Jan 08, 2010 @ 08:54 PM
Spina Bifida, What does it have to do with MTHFR?
MTHFR stands for 5,10-methylenetetrahydrofolate reductase. For some of you those words are familiar because you have been told that you have one or two changes in that gene. For others, you have heard of the MTHFR gene but it is probably as foreign as a different language. Hopefully after reading this blog you will be a little more comfortable with the term and how it relates to Spina Bifida.
First some background information. The term "folate" is the natural Vitamin B9 found in one's diet and "folic acid" is the form of B9 that is found in supplements. Above is a diagram of how folic acid and folate are important to daily maintenance of your body, and therefore to a growing baby as well. Notice that folic acid and dietary folate enter the cycle at different points. Vitamin B9 is required for nucleotide biosynthesis and methylation of proteins, DNA and lipids. Nucleotide biosynthesis essentially means maintaining your genetic code in good condition by replacing damaged parts of your genetic code with new pieces. Methylation of proteins (building blocks for your body and machinery of your body), DNA (your genetic code) and lipids (fats) essentially means creating signals for how your body should work.
Looking at the diagram you can see that folic acid is converted into tetrahydrofolate (THF). THF is then converted into 5,10-methylenetetrahydrofolate (5,10-MTHF). MTHFR is the enzyme that changes 5,10-MTHF into 5-methyltetrahydrofolate (5-MTHF). As you can see MTHFR is only ONE of the many, many, many enzymes involved with Vitamin B9 metabolism. The enzymes I've shown in the diagram are only a handful of the enzymes involved in complete Vitamin B9 cycle and changes in any one of them may have an effect on Vitamin B9 metabolism.
Sometimes changes to the MTHFR gene can result in an inability to convert 5,10-MTHF into 5-MTHF. 5-MTHF helps convert homocysteine into methionine. Without 5-MTHF, an increase in homocysteine may occur. In some people, a build-up of homocysteine has health consequences such as vascular disease ( coronary artery disease, peripheral artery disease, arteriosclerosis, deep vein thrombosis, placental abruption leading to miscarriage). Theoretically changes in the MTHFR gene that cause increases in homocysteine may result in the above health risks.
HOWEVER often changes to the MTHFR gene do not result in health consequences. If you remember, dietary folate can be converted into 5-MTHF. That allows the cycle to continue by aiding the conversion of homocysteine to methionine. Changes in the MTHFR gene that do not result in increased homocysteine (due to dietary folate being converted into 5-methyltetrahhydrofolate) are not expected to increase health risks. However if a person cannot convert either dietary folate into 5-MTHF or folic acid to 5-MTHF, there could be an increase in homocysteine.
Currently changes in the MTHFR gene do not appear to have a strong association with an increased risk to have a child with Spina Bifida. Researchers have had a difficult time showing a strong association of Spina Bifida to a single gene like MTHFR. The researchers of the SB Genetics Research Project believe that it is likely several changes in not one, but many genes involved with Vitamin B9 metabolism that result in an increased risk to have a child with Spina Bifida. That is why we wish to include those women who have a change in the MTHFR gene and believe they know why they might have had a child with Spina Bifida. Hopefully, the topic of MTHFR and how it relates to Spina Bifida is a little clearer. The irony in that statement is that only looking at MTHFR will not make the understanding of the genetics of Spina Bifida clear.
Kristal
www.sbgenetics.org
support@sbgenetics.org
Posted by Kristal Louie on Wed, Jan 06, 2010 @ 04:38 PM
Folic Acid: The World's Healthiest Food
New York Times columnist and Pulitzer Prize winner Nicholas Kristof was recently in Honduras and what he saw there is the subject of his most recent column in the January 3 edition of the Times. His experiences there compelled him to inform his readers about the wonders of folic acid. Mr. Kristof met three babies with various forms of Spina Bifida. It is an uphill battle for those of us in healthcare to inform the general public about the need for adequate folic acid prior to conception. Props to Mr. Kristof!
Mr. Kristof describes folic acid as a "miracle substance" and how there is "scarcely a form of foreign aid more cost-effective than getting [it] into the food supply." We couldn't agree more. He highlights the work of Project Healthy Children, an aid organization that fights vitamin deficiencies in Honduras and other poor countries. Mr. Kristof also discusses other micronutrients (vitamins and minerals) that are likely lacking from many diets in Third World countries like Honduras and even from the diets in developed countries.
One aspect Mr. Kristof did not discuss is the role of genetics. It's likely that our genetics play a large role in how our bodies use folic acid and, therefore, also the risk of having a baby affected by SB. Trying to ensure that the general public consumes enough folic acid by fortifying foods is a great step. Following the CDC guidelines of 0.4 milligrams daily beginning three months prior to pregnancy is a second great step. However, our research suggests that 0.4 milligrams might not be enough for some women. These women, due to tiny changes in their genetics, may require more than 0.4 milligrams - and may not even know it. For them, diet alone isn't going to cut it. Consuming supplements with the folic acid dose increased to 4 milligrams is required. Currently the larger doses of folic acid are typically prescribed by a physician only if you have a family history of SB. However, for some women, their genetics will determine that they very well may require 4 milligrams, even without a history of SB. With our research, we hope to develop a genetic test which can identify women without any family history who need the 4 milligram dose of folic acid.
We applaud Mr. Kristof for bringing this critical issue to millions of people. We would just like to remind everyone that in the case of preventing Spina Bifida and related birth defects, it's very likely that one size doesn't fit all.
Kristal
www.sbgenetics.org
support@sbgenetics.org
Posted by Bruce Cohen on Fri, Dec 18, 2009 @ 12:20 PM
Why
we do this.
Every
once in a while, one is reminded about the importance of the work that we
contribute to by supporting biomedical research. Sometimes even those of us who work in the
industry are unaware of all the people who demonstrate enormous amounts of
courage that are hard to imagine.
As
part of the SB Genetics Research Project, I get to spend a fair amount of time
at Spina Bifida events – to raise money and awareness, to build community and
to enjoy each other’s company at the holidays.
Our research project is being actively supported by more than 30 Spina
Bifida advocacy groups around the world and 22 hospitals with Spina Bifida
treatment centers. Our participants
represent 47 states and 11 countries.
Nearly all of that support comes from volunteers and professionals whose
only goal is to help reduce the incidence of Spina Bifida for future
generations.
This
past week-end, I was fortunate enough to attend the inaugural WinterBifida
Fest, sponsored by the Spina Bifida Association of San Diego. It was extraordinary to be a part of this
event and to meet a true hero – Aaron “Wheelz” Fotheringham, an extreme
wheelchair athlete who landed the first wheelchair back flip. Aaron has something to teach everyone, not
just people in wheelchairs, about strength, conviction and never giving up. His message of hope and perseverance in the
face of adversity resonates with everyone who has a heart.
Please take a minute to watch the video from the NBC affiliate in San Diego.
We
are proud and humbled to be associated with this vibrant, compassionate
community. It sustains and motivates
us.
--Bruce
www.sbgenetics.org
support@sbgenetics.org
Posted by Kristal Louie on Fri, Dec 04, 2009 @ 12:05 PM
What makes a group supportive?
When you put "spina bifida support group" into your Google search engine, it's easy to be overwhelmed by the links. How do you know which sites are providing you with good information, good support? If a site pops up first on the list, does that mean that it is the best? Not necessarily. Here's my attempt to take some of the guess work out of it. In the end, it all depends on what makes you feel supported; if it is medical advice from an expert, or if it is somebody else who is going through the exact same thing, hopefully you find it. I am a personal believer in word of mouth as well, so ask somebody you know, and if that doesn't work, then read on.
Daily Strength often pops up as the first link on Google search. The Daily Strength Spina Bifida group is just one of more than 600 online Daily Strength communities. Daily Strength has an expert panel to answer your questions. The panel members are experts in their own field, but not necessarily experts on Spina Bifida, as they serve the entire Daily Strength community. The panel includes an ophthalmologist, cardiologist, nephrologist, marriage/family therapist, pediatrician, internist, fertility specialist, as well as other experts with vast knowledge in their fields and, most importantly, an expert mom. Daily Strength does require you to register as a member before communicating, but signing up gives you access to hundreds of other individuals with Spina Bifida. One of the features I liked the most is the members in need section, people who realize that they don't have to be alone and are reaching out. You might be able to share your story to let them know they are not alone or just empathize with them. Sometimes just having somebody listen to you is one of the best forms of therapy out there.
Sometimes the 2nd link that pops up is the Yahoo group Spinabifidacentral. There are over 2000 members. Unlike Daily Strength, there is no resident "expert" panel to answer your medical questions; however, you may not be looking for medical advice. Plus, who says you have to have a medical degree to be an expert? Often experience makes a person an expert. Without signing up, you can take a peek at what some of the most recent messages are, but you will have to sign up to post a reply or a new comment of your own. There may be many more features available to members only. If you happen to be a member of spinabifidacentral, please post a comment to let us know!
The Spina Bifida Family Support often pops up 3rd in a search. This group was started by a couple in Indiana who raised a son with Spina Bifida without finding another family to connect with. Although the site has a lot of Indiana specific information regarding resources, they also have a lot of information on various topics that may be of interest to any parent, such as what you should know for your child's IEP or bullying. This webpage seems to serve the purpose more of being a resource (last updated 2006) and less as a dynamic online support group, which Daily Strength and Spinabifidacentral provide. However there are several families that post their contact information and are ready to hear from you.
The Spina Bifida Association's Parents ListServe is also an option for getting support, exchanging ideas, resources, allows for debate, and general discussion. To add yourself to the ListServe send an email to: SBParents-on@lists.sbaa-communities.org . Leave the subject line and the body blank. To receive the digest version of the list rather than each individual message, send a blank email to SBParents-digest@lists.sbaa-communities.org
Going to Family Village will provide you with several different types of resources, those specific for online connection, or those pages for information. It doesn't look like much, as it lacks jazzy graphics and flashy icons, but it tells you what is out there. Check it out to see what grabs your attention and please post what you find on our blog site.
Kristal
www.sbgenetics.org
support@sbgenetics.org