I heard from one of my research friends that there is promising news coming out of France about TNA alpha inhibitors and their success in stopping RE.  TNA alpha inhibitors are a class of drugs that are currently used to treat other auto-immune, inflammatory conditions such as arthritis and psoriasis.  The drugs have been around for 10 years and are now routinely prescribed.  Keep you posted as I learn more.

I continue to receive e-mails from families impacted by RE that are receiving sub-par medical advice.  RE is a rare disease and some doctors are not likely to admit they do not have experience treating the disease.  In some cases the doctors are using medical literature that is a poor substitute for experience.  It is especially alarming when the family is not well educated and without financial resources, and unduly relies on the doctor’s input without seeking a second opinion.  In many of these cases the doctors are slow to educate the patient about the inevitably of the hemispherectomy surgery and do not offer access to families that are post-surgery.  It is critical that a patient establish that their doctors have treated the disease.  An important corollary is that if the patient is facing hemispherectomy surgery that the neurosurgeon have experience performing the surgery.

For families in search of answers regarding RE and hemispherectomy surgery I suggest that they connect with the facebook page of the Hemispherectomy Foundation.   On this page there are literally dozens of families that offer advice, emotional support, and answer questions for families that are in a desperate search for information.  It is important to connect with these families rather than relying on a single doctor to guide your medical decisions on how best to treat RE.  Another place to check is the Hemi Center  resource page on the website of the Hemispherectomy Foundation.  If your treating institution is not on this page odds are they do not have a history of treating the disease.

Another frustration is the reluctance of neuro-surgeons to participate in our tissue transfer programs despite the wishes of the family.  We have shipped tissue from all over the globe to our tissue repository at UCLA, yet there are still neurosurgeons that do not respond to our outreach.  On some occasions the neurosurgeons stand behind outdated privacy rules and hospital regulations despite the support of the family for our program and impressive roster of hospitals that have already participated.  If you are facing hemispherectomy surgery be sure to tell you surgeon that you would like your child’s tissue to be a part of our research efforts.

Grace recently fell and had a concussion.  She does not ambulate that well and unfortunately falls can occur.  When Grace falls it is potentially dangerous as she has a limited ability to protect herself and blows to the head can result which occurred this time.  She is now fine, a bit bruised, but otherwise fine.  Five years out from surgery  Grace’s inability to ambulate independently following the hemispherectomy surgery presents all kinds of perplexing issues.  Grace will be participating in a study this summer at Columbia University that will simultaneously combine upper and lower rehabilitation in an effort to increase her balance and improve her gait.  We are hopeful this innovative therapy will help.

We were recently mentioned in an article on Motherboard which is VICE Magazine’s science and tech website.  Good article that helps spread the word about hemispherectomy surgery.

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It is with deep sadness that we note the passing of a good friend, Dr. Carol Kruse.  Carol was a leader in researching the underlying mechanisms of RE and one of my scientific mentors who encouraged me on my quest to advance research into the disease.  Carol ran a laboratory at UCLA and along with Drs. Geoffrey Owens and Gary Mathern have led ground breaking research into RE utilizing the human brain tissue we collect from around the world in an effort to create a mouse model.  Carol was a kind person and dedicated to helping individuals impacted by the rare epilepsies.

Geoff and Carol in their UCLA lab.

Carol had a great sense of humor.  After listening to one of my musings about research and my interest in being a doctor for a day, she ordered me up a full white lab coat with my name and the RE Children’s Project just beneath.  I will miss Carol.  The RE community has lost an important advocate.

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A year ago a terrible tragedy happened to a very special person, Pouneh Bahri.  After enduring the hardship and tragedy of Rasmussen’s encephalitis, and then striving to find her own way in life, she was accidentally killed in a bus accident.  Pouneh had a hemispherectomy at the age of three and by all accounts she was thriving and enjoying life. This accident was especially sad after the family fought so courageously for their daughter’s life and had successfully navigated the difficult and arduous travails of post-hemispherectomy life.  

“Pouneh gave of herself with an open heart. She possessed an outer and inner beauty that radiated and spilled over to embrace us all,” said her mom, Azi Bahri a year ago. “My dear Pouneh’s memory is forever imprinted in the hearts of all those lives she touched, and our world is a better place for having had her.  She was my teacher. She was my inspiration. She was my heart. She was my best friend. She was my daughter and so much more.”

Now a year after the accident, the family is honoring their daughter in a celebration of  life on Sunday, March 8th at the National Funeral Home located in Falls Church, Virginia at 12 pm.  The family is expecting a large, local turnout and has graciously asked that everyone celebrate Pouneh’s life by making a donation to the RE Children’s Project.  I have been in touch with Mom and their family friends and their desire to find a cure for RE is so heartfelt and genuine.  They miss their daughter’s brilliance and love of life, and feel that donating to the cause will honor Pouneh’s too short, but meaningful life.

We are so grateful to the Bahri family for recognizing the efforts of the RE Children’s Project to advance medical research into RE.  Their thoughtfulness during this especially difficult time of this first anniversary is truly special and touching. Please remember Pouneh and make a donation in her name to the RE Children’s Project.  We will soon be posting a flyer that will provide additional details. Thank you for your continued support, thank you to the Bahri family and to their local community in Centreville, Virginia.   

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On March 13th, the annual Lifting For Grace fundraising event will take place in our home town at Darien High School.  The event is focused on raising awareness for Rasmussen’s encephalitis as well as funds for our research programs devoted to this rare epilepsy syndrome.  Head Coaches Rob Trifone, Darien and AJ Albano of Brien McMahon High School bring their teams together to compete in the weight room to raise funds for the cause.  Individual athletes can be sponsored or donations can be made through our website.  The Lifting Grace event was initiated several years while we were in Baltimore when Grace had her first brain surgery.  Below are pictures from the previous events.  Many thanks to Coaches Trifone and Albano for continuing this inspirational event.        

We continue to help families in every corner of the world cope with RE and navigate the difficult and desperate circumstances that are part of this devastating disease.  Unfortunately, many doctors around the globe are not experienced in treating RE which complicates the plight of many families.  It is essential that families impacted by RE maintain complete medical records in case second opinions by more experienced doctors are warranted.

We continue to make progress in our efforts to expand research into Rasmussen’s. Within the last few weeks we have been in contact with Beijing Sanbo Brain Hospital, China as well as the University Hospital Muenster, Germany who have expressed interested in participating and collaborating in our research programs.  We will soon be funding  a follow-up study  to one that analyzed samples from RE patients in detail and found evidence for a pathogen (e.g. a virus) that potentially triggers an adaptive immune response causing the damage in the brain.  Additionally, we are exploring a potential funding for a ground breaking rehabilitative study by Columbia University’s Center for Cerebral Palsy Research that would focus on hemispherectomy patients.  Finally, there are several other research projects that are showing promise including one that is focused on developing a mouse model that will need funds later in 2015.

Please take advantage of the Lifting For Grace event to express your support for our efforts.  Stay tuned for more information on the event.  Thank you. 

 

   

 

 

 

 

 

 

 

 

 

 

 

 

 

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I continue to be contacted by parents from every corner of the world desperately seeking help for their children.  Most recently the e-mails have come from Israel, Rumania, and in the States from California.  Many of the e-mails ask if there are any new treatments that have recently become available.  Rituximab is frequently mentioned.  This drug is used to treat some forms of cancer and auto-immune diseases.  Its use in RE seems to be increasing, but anecdotal evidence from the families is that it is not a cure or a long term solution for RE.  Additionally, medical marijuana, CBD is another topic of interest.  I am not aware of a RE family that has tried CBD.  As far as I know most of the trials now underway in epilepsy are for Dravet Syndrome.  The incidence of RE, the difficulty of its diagnosis, and the wide dispersion of its patients unduly complicates any type of clinical drug trial.  One drug that several researchers are interested in trying for RE is Tysabri.  This drug is not well known by the neurology community, but the MS (multiple sclerosis) researchers and doctors believe it may help RE.  One issue is that Tysabri has been associated with PML, a lethal condition, but I am told in the hands of skilled and experience physicians this extreme risk can be practically eliminated.  Another issue is that Tysabri is expensive and not approved for treatment for RE making insurance reimbursement impossible.  Its manufacturer, Biogen has refused to make the drug available for compassionate use and has turned down leading RE researchers in both Germany and the US.

Another topic that arises in the e-mails relates to the experience of the physicians involved in the treatment of their children.  While we all respect our medical doctors, it is critical that a parent be a powerful advocate on behalf of their kids.  RE is extremely rare and treatment should only be administered by a neurologist that has experience with the disease.  In several instances the families are being treated by neurologists that have not previously treated RE.  In these cases we work to obtain second opinions which requires that a parent keep a complete medical record of the child’s treatment.  Equally important is to consider the appropriate experience of your neuro-surgeon to perform a hemispherectomy.  A dozen cases may not be enough and certainly over 150 cases is more than enough, but there probably is no magic number to answer this question, yet this is a conversation that should not be avoided with your surgeon. 

We continue to push forward with our research agenda.  UCLA led by Dr. Gary Mathern continues to be at the forefront of RE research efforts.  Their primary efforts are focused on creating an animal model for RE.  Here is a summary of their work from a recent report,

 “Seizure activity in mice could be triggered by the human T cells attacking the grafted human neural tissue, causing an inflammatory reaction that alters the activity of surrounding mouse neurons or as a result of a direct attack on mouse neurons. The team has identified two types of infiltrating T cells in the brain tissue of RE patients. One of these types of T cells, termed a gamma delta (γδ) T cells, could recognize and attack mouse brain cells if those cells expressed a component that is identical to one found on human brain cells. Either scenario would directly link seizures to the T cells, proving that RE is an autoimmune disease, and providing a pre-clinical model to test different anti-inflammatory treatments.” 

Please contact me if you are interested in seeing the full report from UCLA. 

Additionally, please consider donating to the RE Children’s Project.  Due to the “success” of the hemispherectomy surgery, we do not have a natural base of financial support amongst the families and for many a cure would be too late.  This is in fact my case. My 17 year-old daughter confronts on a daily basis the aftermath of her drastic surgery.  Driving a car, participating in sports, going to the mall with friends—these typical activities of a teenager will never be a part of her life.  We rely on your donations to help us make a difference in the research of this rare epilepsy that holds so many clues to the other epilepsies as well other inflammatory conditions.  

       

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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.

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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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