We are in the early stages of looking at post high school alternatives and it is a real challenge to navigate the labyrinth of schools available to young adults with learning and physical disabilities.  Many schools offer programs that assist individuals with a learning disability, but there are very few programs that offer assisted living as well as specialized educational programs.  Many of the programs are designed for kids with ADHD, dyslexia, social issues, autism, etc. and the kids must be independent.  Understandably, there are no programs designed for individuals following hemispherectomy surgery.  Many colleges offer some type of special education accommodations, but they are limited such as arranging for additional time on tests, providing e-readers, and additional hours for help, but they will not tailor their programs to individuals that learn differently that require customized curriculums.  It is important that you understand your child’s learning issues when evaluating programs.  There are various categories of intelligence used to evaluate one’s ability to achieve: reading fluency, calculation, passage comprehension, writing fluency, calculation, applied problems, math fluency, working memory, visual memory, design memory, to name a few.  There are different tests available to gauge the range of achievement abilities, the Woodcock Johnson Achievement Test and the Wechsler Adult Intelligence Test are common ones.        

I received these two e-mails during the Thanksgiving week.

I am emailing you as a starting point in my endeavours to help a young RE sufferer who lives in Guatemala. My husband and I visited our Guatemalan family earlier this year and had the pleasure of meeting this very honorable family doing life so tough! It was heartbreaking to see and realise the on-going struggle they face in the care for their daughter.  Whether the treatment she is receiving is now appropriate – I don’t know! Is she on the right medication – Her father speaks some English and works in IT, but her mother,  speaks only Spanish. I have been researching on the internet for many hours, and I am hoping that you may be able to help us. I have found websites where people can apply for medicines at a cheaper rate, but they all seem to say for US Residents only.  Due to increased concern for their daughter’s deteriorating condition, they are currently managing to pay for some much needed physical therapy.  However, while they are certainly witnessing the benefits of this therapy, both physically and mentally, they are very uncertain as to how they are going to keep paying for these sessions next year. The father is also very worried about the possibility that he may lose his job next year which would be absolutely disastrous. The family needs help, both emotionally and financially. We don’t know of any other RE case in Guatemala, so it puts them in a very isolated situation. I can only imagine the heartache and difficulties that you and other parents face in dealing with this horrible disease.  Look forward to hearing back from you with any suggestions or advice.

_________________________

My 8 year old daughter has Rasmussen’s  encephalitis. In her case, it’s in both hemispheres.  Currently, she receives IVIG  infusion  every 4 weeks.  Are we alone or does anyone else have in both hemispheres?  Do you have any info that I could give to our neurologist concerning any treatments, research, etc?  Would appreciate  any help.  

Please consider donating to the RE Children’s Project during the holiday season.  We relive our own personal difficulties every time we receive one of these e-mails.  Without additional funding the RE Children’s Project will no longer be able support research into RE as well as help out these families.  Our funding reserves are now low and without your support we will cease our research program.  We need a non-invasive treatment for this disease, the hemispherectomy surgery is not the answer.

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I have been reading about Dr. Max Gerson, a remarkable doctor who devoted his life to refining a diet therapy which focused on healing the entire body rather than specific conditions.  Gerson lived during the mid 1900s and fled Nazi Germany to survive and develop his alternative approach to treating disease.  His diet regimens are quite specific and difficult to follow, but yet the evidence of their success is unquestioned based on the accounts of his patients.  The Gerson therapy targets degenerative diseases such as cancer, heart and circulatory disease, diabetes, and multiple sclerosis.  Despite the success of his dietary approach, Gerson has been forgotten and ignored by the medical establishment.  The Gerson approach is controversial and the American Cancer Society and the US National Cancer Institute, do not recommend the use of the therapy, warning that patients should not turn away from mainstream therapy.  During his life Gerson attracted the friendship of Nobel prize winner Albert Schweitzer, the famed medical missionary, by curing Schweitzer’s wife of lung tuberculosis after all conventional treatments had failed. Gerson and Schweitzer remained friends for life, and maintained regular correspondence.  Schweitzer followed Gerson’s progress as the dietary therapy was successfully applied to heart disease, kidney failure, and finally – cancer. Schweitzer’s own Type II diabetes was cured by treatment with Gerson’s therapy.  My interest in the Gerson therapy stems from its potential application to seizure conditions.  Despite the success of another diet, the ketogenic diet, in treating refractory epilepsy, it is rarely prescribed in favor of AEDs.  Unfortunately, the research into alternative therapies such as diet and herbal remedies is non-existent compared to the resources devoted to developing pills to reduce the impact of seizures.  To date, there is no pill for Rasmussen’s and the outlook is not positive in the near term for such a break-through.  Although the research is in the early innings on CBD and currently focused on Dravet’s Syndrome, it is good to see the interest in an herbal remedy.   As far as I know we do not have a case of RE being treated by CBD.

Rasmussen’s encephalitis is the rarest of the rare.  There are globally a few hundred new cases each year.  Every family impacted by the disease knows the despair and desperation it imparts.  RE occurs in all corners of the world without regard for race or ethnicity primarily impacting children. What complicates the search for a cure is that RE is a condition without a stable disease population, or a supportive constituency.  With the “success” of the hemispherectomy surgery, RE families are able to move on and resume a new normal life hopefully without seizures.  Having considered their children ”cured” and in the aftermath of this radical surgery, the families become part of the hemispherectomy community and no longer refer to their children as having Rasmussen’s.  This dynamic of a small, but constantly changing group of active patients has resulted in the lack of research dollars and interest in RE.

This observation leads me to another topic that I have riffed on in the past.  While all of our kids are miracles, courageous, and inspirational, the hemispherectomy surgery is not a miracle.  While the surgery is a technical marvel and I am thankful for the skills and dedication of the neurosurgeons that perform the surgery, the hemi surgery is devastating and a blunt response. It is frustrating to see the media continue to pick-up stories about hemispherectomy patients that extol the virtues of the surgery as a cure.  While the publicity for the disease is welcomed, these stories perpetuate the myth that the surgery is a cure without severe costs. 

What is a marvel and a miracle is the human brain and its ability to adapt and rewire itself despite the unwelcome instrusion of a surgeon’s scalpel.  Thank you for your continued interest in our research and mission. 

 

 

      

 

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I hope you are doing well.  I wanted to follow-up on a letter I sent you to let you know about some of the progress we are making with the RE Children’s Project (www.rechildrens.org) in the ongoing effort to find a non-invasive cure for Rasmussen encephalitis (RE).  As you may recall, a group of clinical and basic researchers have formed a consortium to work together to find a non-surgical cure for RE.  This is supported by Mr. Seth Wohlberg, parent advocate and founder of the RE Children’s Project.  I am based at the Mattel Children’s Hospital, Ronald Reagan Medical Center at UCLA working under the guidance of Dr. Gary Mathern. 

One of our primary goals is the continued development of our tissue bank of post-surgical RE tissue, blood and cerebrospinal fluid.  In the last 6 months, we have collected surgical specimen from 9 patients with RE.  Since inception of the tissue transfer program in 2012, we have collected specimen from 29 patients at 16 epilepsy centers in 7 countries.  Domestic participating institutions include:  UCLA, Johns Hopkins, Children’s National Medical Center, University of South Alabama Medical Center, Duke University Hospital, Ann & Robert H. Lurie Children’s Hospital, Children’s Hospital Colorado, Texas Children’s Hospital, Oklahoma University Medical Center, Boston Children’s Hospital and Washington University St. Louis.  International participating institutions include:  University of Alberta Hospital (Canada), The Children’s Hospital at Westmead (Australia), Hospital das Clínicas de Ribeirão Preto (Brazil), Fondazione I.R.C.C.S Istituto Neurologico Carlo Besta (Italy) and Hospital de Santa Maria (Portugal).

We are the only group advancing a global consortium dedicated to this rare and devastating disease.  Hopefully you will support our cause by helping us collect this material.  We have developed a very easy protocol to collect the tissue, and we pay for all shipping and handling.  We have IRB approval to collect the material as a tissue bank at UCLA, and we will coordinate all logistics related to the transfer. 

I would like to ask that if you have a case of RE going to surgery, please let me know and also open a dialog with the patient and family about banking the excess tissue that is resected as part of the planned neurosurgery.  It is intended that the brain samples removed for research is no more or less than what you would do for your standard surgical treatment.  I have attached a copy of the specimen collection instructions and IRB approval letter for your reference.

Thank you for your time and consideration, and please keep this note somewhere where you can find it if an RE case comes your way.  My contact information is included below, please feel free to contact me at any time.

 Sincerely,

 Thabiso Chirwa

Research Coordinator

RE Children’s Research Consortium

www.rechildrens.org

Email:  tchirwa@mednet.ucla.edu

Phone:  +1 615-293-8365

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We have been working with one of the senior members of our research consortium to initiate the treatment of a few individuals impacted by RE with Tysabri.    Tysabri is a prescription medicine used to treat multiple sclerosis, but there is a consensus among our researchers that this drug may be successful in treating RE.  It is not uncommon for a drug to be used to treat several diseases.  Like all drugs there are side effects and issues to be addressed, but our experts feel the risks can be minimized.  If you are interested in participating in the treatment please contact me.  The individual must be pre-hemispherectomy.  There will not be a charge to the individual to participate in the program. 

On another front, another member of our consortium, Dr. Charles Chui was cited in a front page New York Times article  recently that discussed the most-up-to-date viral sequencing technology. 

Dr. Chui is a leader in the development of the latest diagnostic tool to identify the culprits that cause disease.   “The researchers’ latest method is called unbiased next-generation sequencing. To identify a pathogen, the researchers extract every scrap of DNA in a sample from a patient, which might be blood, cerebrospinal fluid or stool. Then they sift the genetic fragments for those belonging to pathogens.

The technique already has proved valuable for investigating mysterious disease outbreaks, and a number of scientists have begun to hope it can be adapted to the diagnosis of individual patients’ infections. Rather than test for a suspected pathogen, a doctor could simply run a DNA test that could identify the culprit no matter what it is — virus, bacterium, fungus or parasite.”

The article mentions that Dr. Chui is working to identify the causes of encephalitis.  For the past two years we have been working with Dr. Chui to determine if there is a viral cause of RE.  With the success of our tissue collection program over the last year we have been able to provide DNA to Dr. Chui’s lab to sequence with his microarray technology.  The initial results of his work are in the scientific notes of our February research symposium which was held at UCLA.  The bottom line is that, to date, we have not been able to identify a viral cause of RE.  That, however, is not the end of the story, and it is too early too definitively say that RE is not caused by a virus.  There are stories of individuals taking herbal-based remedies in China and Latin America that treat rare epilepsies as if they were caused by viruses.  We are in the process of more thoroughly vetting these stories and will keep you posted.  In the interim,  click on the notes and read the summary of Dr. Chui’s presentation.

Please continue to financially support our efforts.  Thank you.

Grace and Deb at S4 Epilepsy Walk sponsored by the Fradkin family to benefit CURE.

 

 

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I am delighted to report that the scientific notes from the latest research conference held two months ago on the campus of UCLA are now available.  These notes represent the latest science and research related to rasmussen’s.  I encourage you to peruse the notes, not written for the lay person, they nonetheless provide a window into the broad scope of research that we are supporting as we strive to unlock the causes of the disease.  These areas include infectious/viral and genetic sequencing, developing an animal model, and initiating clinical drug trials.  Please note that these notes are provided for informational purposes in an effort to accelerate interest and research into the disease.  Print out the notes and give them to your doctors.  Help us spread the word about our efforts.

Click here to access the notes:  RECP-UCLA 2014 Conference Notes

The UCLA conference was our third research symposium.  I would like to thank all of the participants who attended the conference.  Their names are listed in the first few pages on the proceedings.  This was a high caliber gathering of researchers and clinicians across a number of disciplines.  Our first conference was held in Deer Valley, Utah in October 2010.  We have come a long way since that conference; significantly accelerating the pace of research into RE. 

As noted in past blogs, it takes money to make things happen.  If you have donated in the past, thank you.  If you believe in what we are doing please hit the donate button. There is a greater good in our research that will help all families impacted by the epilepsies.  Thank you for your continued support.

Seth

 

 

 

 

 

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On March 13th and 14th the Blue Wave Football Team will compete against rival Brien McMahon in a lift-a-thon with a twist. The teams will lift weights, lots of them, but more importantly, they will lift spirits and improve lives by raising funds to support research directed toward a cure for Rasmussen’s Encephalitis. Inspired by Grace Wohlberg, sister of former DHS player Mike Wohlberg, the two teams will put their brawn to good use in hopes of Bench, Squat & Cleaning their way to a goal of $15,000.

If you would like to donate to this year’s lift-a-thon, penny per pound or a flat amount, please make checks payable to The RE Children’s Project and send c/o Maureen Tyrrell, 2 Four Acres Rd, Darien, CT 06820. Or better yet, stop by Darien High School on Thursday,  March 13th at 3:00 p.m. and cheer on the two teams as, together, they lift for Grace.

Please show your support for Grace and the research we are doing by hitting that donate button.  We rely on your generosity to continue this vital research.

 

 

 

 

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Meeting participants

Just got back from Los Angeles where I participated in our 3rd research symposium devoted to rasmussen’s encephalitis.  The RE Children’s Project sponsored the event and it was a successful gathering.  Held on the campus of UCLA at the Ronald Reagan UCLA Medical Center, 35 individuals flew in from around the world to participate and learn from one another the latest in RE research.  There was a palpable excitement in the air as several researchers presented their state of the art findings in several key areas of research.  Our first research conference was held in Deer Valley, October 2010 followed by our second conference in February, 2011 in New York City.  These conferences were great, but over the weekend the RE Children’s Research Consortium vaulted to a new level of cooperation and discussion.  The Consortium continues to grow as word spreads of our efforts.

At the meeting we discussed the potential viral and genetic causes of RE.  The success of our global tissue transfer program has enabled Consortium members to begin sequencing the DNA of RE patients to to uncover the mysteries of the disease.  We are very early in this process, but we have made significant strides in just 3 short years.

Click here to see the meeting participants

Click here to see the meeting agenda

In the coming days and weeks we will make available the scientific notes from the meeting.  Additionally we will be posting the transfer documents that your neurologists and neurosurgeons need to complete to ensure the proper shipping of blood, spinal fluid, and brain tissue.  We are expanding our tissue transfer programs.

All of the participants agreed that this conference marked a watershed of sorts for RE research.  We now have the most up-to-date technology being deployed by the best minds in RE research.

We continue to work hard to earn your support.  By utilizing a business-like approach to research we are flexible and dynamic in our decision making, and we have achieved results. All of this take money…..please hit the donate button today and support our mission.  Our research will help all individuals impacted by the epilepsies.  Thank you.

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Scientific Advisory Board Members: Chris Cotsapas, Yale University; Helen Cross, Great Ormond Street Hospital, Gary Mathern UCLA

Click on the  highlighted link to see our story which made the cover of the December issue of the Epilepsia Journal:  My Life With RE.  Straight from the heart….

Just got back from the American Epilepsy Society Meeting in Washington DC.  Terrific two days of meetings topped off by a meeting of our Scientific Advisory Board along with a number of guest participants.  We met for an hour and half and discussed our research agenda as well as the agenda for our upcoming February research symposium.

 

We also recently learned that a scholarly article written by members of our Scientific Advisory Board has been accepted for publication by The Lancet Neurology.  This is a highly prestigious publication and will ensure that epileptologists around the world will have the latest literature concerning RE.

We continue to receive e-mails from around the world from parents dealing with the shock that their child has RE.  Here is a recent one…..(names changed).

My name is Sam W.  My 5 year old daughter Gena, was diagnosed with RE yesterday afternoon.

I would like to thank you and everything that your website has provided my family and myself to start this terrible journey.

I began doing research on the RE a week or so again as it became more and more apparent that Gena may be diagnosed with this disease.

The seizures came from nowhere approximately a year and a half ago (August 17th 2012) and since then it has been a progressive downward spiral for her.  She is a strong little girl as most kids are and keeps her spirits up, but as everyone knows who has dealt with RE, some days are better than others and for every step forward there is two or three back.

Our ( My wife Ann, Gena , my 8 year old daughter Hannah and myself) worst fear came true yesterday afternoon when we were told to get a second opinion, which is ironic because this is our third doctor who has thought such a thing starting last year.

Of course it goes without saying that we will do anything and everything to make our baby better.  We (more myself) are not sure if we should “drag our feet” anymore with more doctors and medicines.  She has been on 4-5 meds given both morning and evening and while the seizures have tailed off she recently has developed a “tremor” or “shake” which appears to the doctors to be a constant seizure (EPC).  We just want her quality of life to improve, as you know everyone , but especially that little girl has been through so much in the last 1.5 years.

A spinal tap has already been done which showed inflammation of the brain and their has been shrinkage in the left hemisphere of her brain ….. which may not be too bad (if that term “too bad” can even be used in these situations) for Gena since she is a lefty.  She currently is getting the IVIGs and has already received 2 of them and is scheduled again in late December for her next one.

We are a wreck right now as far as emotions are concerned and I am very worried not only for my daughter(s) involved but for my wife as well.  I know it is early and it takes some time to set in and to accept such a “shock”, so I am hoping it gets better.  My 8 year old daughter ( and Gena’s best friend ) knows that Gena is sick but really hasn’t gotten the concept down yet and we have not said a word to her about the news we received yesterday concerning RE and Gena.  Of course she, along with everyone else is going to be crushed and have a million questions.

I am not really sure which step to take next and I am very scared for my daughter and the rest of my family.  Any help or advice would be welcomed.  I will continue to educate myself and family on this disease both at the REchildrensproject website and elsewhere.  I just wanted to vent and to say thank you during this difficult time.  I do know that my family and little angel are not alone and that is somewhat comforting.

These families are devastated.  Please consider donating to the RE Children’s Project.  We need to find a cure.

 

 

 

 

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I have frequently written about  how fortunate we are to live during the time of the internet and social media where we are empowered to reach across the globe and connect with one another.  We are blessed today to be able to learn from the families who came before us whose our lives were upended by Rasmussen’s encephalitis.

What was it like for these families that were impacted before the age of desktop computers?  Imagine dealing with this this devastating disease without the benefit of a global support group or the ability to search for clues and answers on the internet?  When I meet such families I admire their strength and determination as they navigated their own personal nightmare, alone without connectivity.

A few years back I came across a book entitled “Saving Jesse.” Written during the 1980s by a mom of a young boy with RE, it was the truest and most heart-felt account of what it is like to experience the despair of RE.  The book spoke to me on so many levels.  Many of  the pioneers you know such as Dr. Fred Andermann and Dr. John Freeman are in the book.  The book is powerful and inspirational as a mom fights to save her son with imperfect knowledge.  After I read the book I reached out to the author Nicky Armstrong and congratulated her on her courage in the face of utter desperation.  Nicky is a hero.

Nicky recently contacted me and gave me permission to make her book available through our website.  There is no charge for the book and we are making it available so we do not ever forget how disastrous and desolating it is to deal with RE.  Nicky politely requested that if you view or download the book to make a donation to the RE Children’s Project.  Any amount is welcomed and appreciated.  Interestingly it is over 20 years  since the book was written, but unfortunately there has not been any advances in how we treat this disease.  The same surgery that Jesse had, Grace had 20 years later.   Click on the following link Saving Jesse – A Diary of Rasmussen’s Syndrome to view the book.

The Department of Neurosurgery at UCLA recently held their annual fundraiser which was called Visionary Ball 2013.  We were delighted that UCLA recognized our efforts in their program. Thank you UCLA.

We are also honored to have received an invitation to next year’s gala to present our story and the innovative partnership that we have fostered with UCLA and the other members of our research consortium in seeking to advance our knowledge of RE.

The American Epilepsy Society’s annual meeting in early December is upon us.  This is the largest gathering of researchers and clinicians devoted to the epilepsies in the world.  This year it is being held in Washington, DC.  We will be at the meeting and will have the opportunity to present our research program and agenda.  Additionally, we will be holding a meeting of our scientific advisory board and other interested researchers to review our programs and discuss the next steps in our research program.

This week I will see my friends at CURE as they hold a get together and fundraiser in NYC. Led by Susan Axelrod CURE is a leader in research into the epilepsies.  Looking forward to the evening.

Grace with her high school buddies, the CT state champion Darien Girls swim team.

Celebrating Halloween.

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This week we added a reference library for RE to the website.  The library has over 300 references to scholarly publications relating to RE categorized by relevant topics.  Go to the home page of this website to learn more about how to obtain a copy of the library file.  The reference library was created by my good friend, Deirdre Pinto who lives in Australia and whose niece has RE.  Deirdre has been an invaluable contributor to the RE Children’s Project since our inception penning many important pieces on this site including the scientific notes from our Deer Valley Conference in 2010.  We decided to create the library in the hopes it would spur additional interest in RE by investigators as well as to be a resource for families that are first learning about RE.

Here is what a reference looks like:

Reference Type:  Journal Article Record Number: 4413

Author: S. Bittner, O. J. Simon, K. Göbel, C. G. Bien, S. G. Meuth and H. Wiendl

Year: 2013 Title: Rasmussen encephalitis treated with natalizumab

Journal: Neurology

 Short Title: Rasmussen encephalitis treated with natalizumab ISSN: 0028-3878

Abstract: Rasmussen encephalitis (RE) is characterized by unihemispheric inflammation, progressive neurologic deficits, and intractable seizures. Inflammatory lesions consist of oligoclonally expanded cytotoxic CD8+ T cells attacking neurons and astrocytes.1 Immunotherapies may slow down tissue and function loss, whereas convincing effects on seizure activity have rarely been reported.2 Functional hemispherectomy (HE) is highly effective for elimination of seizures but can only be offered if no indispensable function resides in the affected hemisphere.1 We present a patient with such an HE contraindication who was treated with natalizumab, a blocker of T-cell entry into the CNS. Research Notes: Published ahead of print. URL: http://www.neurology.org/content/early/2013/06/21/WNL.0b013e31829c5ceb.extract# http://www.ncbi.nlm.nih.gov/pubmed/23794679

This week I attended a meeting of several individuals impacted by encephalitis.  The meeting was organized Ava Easton of The Encephalitis Society, a wonderful organization located in the UK and interested in expanding its presence in the US.  At the meeting I met individuals who have lost children to encephalitis as well as whose lives have been turned upside down by this disease.  I met one couple whose daughter passed away due to auto-immune encephalitis and interestingly their initial diagnosis was rasmussens.  The couple has funneled their tragedy into a greater good and they have founded the Auto-immune Encephalitis Alliance.  Please check out their website.

It was interesting to learn about encephalitis, similar to epilepsy, encephalitis is used to describe a broad range of conditions all of which have inflammation of the brain as a defining trait.  That is certainly a trait of RE.  Inflammation can result from infections or from immune (allergic) reactions. Infectious encephalitis is most commonly caused by viruses, and more than 100 different viruses have been related to encephalitis.  Seizures are also part of encephalitis occurring in up  50% of the cases.  My thanks to Ava for inviting me to the meeting, we can learn a lot from the efforts of these encephalitis groups.

We shipped tissue this week from Portugal to UCLA.  Our tissue transfer program is a success and we are well on our way to having a brain bank with enough tissue to advance research into RE.  Here is a partial list of the hospitals that have participated in our research program:

Children’s National Medical Center – Washington, DC

The Johns Hopkins Hospital – Baltimore, MD

NYU Langone Medical Center BioRepository Center – New York, NY

The Hospital das Clínicas de Ribeirão Preto – São Paulo, Brazil

Children’s Hospital at Westmead – Westmead NSW, Australia

University of South Alabama Medical Center – Mobile, AL

University of Alberta Hospital – Edmonton, Alberta Canada

Duke University Medical Center – Durham, NC

Ann & Robert H. Lurie Children’s Hospital of Chicago – Chicago, IL

Fondazione I.R.C.C.S Istituto Neurologico Carlo Besta – Milan, Italy

Hospital de Santa Maria – Lisbon, Portugal

Ronald Regan UCLA Medical Center – Los Angeles, CA

My heartfelt thanks to these organizations as well to their doctors who are assisting us advance our knowledge of RE.  If you do not see you hospital on the list download our protocol manual and ask them to get involved.

Please continue to support our efforts.  We are making an impact.  Thank you.

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