Brandon was only a child, but throughout his life he was loved by many and has inspired them within their own lives to better themselves personally, strive for a better quality of life and helped them realize that they can triumph in all of life’s adventures.  The pain of losing a child is indescribable.  The pain of losing Brandon Ray from our World has inspired people who didn’t even know him, to love him and use his example of pure strong will and his love for life, as their daily inspiration.  The loss that his parents and family have suffered just reminds the rest of us, what is most important in our lives.  Brandon Ray is a source of strength to us not only in life, but in death as well.  His courage and attitude in the face of adversity is an inspiration to everyone who had the joy of knowing him.  It is with his spirit that we want you to join us to spread the word of this Little Inspiration and help us keep Brandon Ray’s memory alive and inspiring other children and families to reach beyond their restraints in life and keep fighting, hoping and believing, we will find a cure for all diseases, which affect our society.  We know that Brandon Ray is encouraging us to find a cure and to share his story with the world. 

Please, take a few minutes and befriend Memorial Rodeo Brandon Buckler on Facebook and read through his Bio, look at his pictures and enjoy his infectious smile.  Brandon Ray loved his life and lived to his fullest potential with Gaucher’s Disease, ever since he was nine months old when the Doctors diagnosed him.  Brandon Ray is and was an inspiration to so many.  If you feel a personal connection, as we do, we ask that you consider taking a few moments to share this information with your co-workers, peers and other business partners.  Your contribution will help us in our journey to keep Brandon Ray Buckler’s memory alive and to inspire two high school graduates from Pendleton County High School and Campbell County High School’s graduating class of 2014, to be able to apply for the scholarship donated in Brandon Ray Buckler’s name.  We hope these scholarships will inspire two graduates’ to further their education with a purpose to achieve, dream and become one of our world leaders, within

Christmas - 2011

the medical field or become a social worker who guides, educates and is compassionate to families like Brandon’s. 

Brandon Ray loved the idea of his own Rodeo and the fact his rodeo would educate people about his disease and make more friends.  He was so excited, he would count down the days until the Rodeo, it just wasn’t meant to be.  He died the month before.  We decided after his funeral to take a page out of Brandon’s way of living life.  Brandon Ray would have said, “The rodeo must go on!”  Brandon Ray’s spirit was at his Rodeo, you could feel his vibe from the beginning of the Rodeo’s display of the United States Flag flying around on a barrel horse, to the releasing of the balloons for our little angel in heaven, with the announcers voice cracking and breaking up as he told Brandon’s life story to the audience.  Two young bull riders rode their bulls with Brandon Ray’s initials on their vest.  Neither bull rider knowing Brandon Ray personally,

Brandon and Cody - Spending quality time together

both putting BB over their hearts.  One of the bull riders later said, it felt like someone was on the back of the bull with him, he normally wouldn’t have stayed that long on the bull he had drawn.  The Rodeo felt like it was running its self; the day of the Rodeo went off without a hitch. At the end of the night, after everyone else was busy loading the stock and tearing down the arena.  The coordinator, her husband and the Rodeo owner’s wife were sitting under the stars on a bench discussing how wonderful the Rodeo turned out.  A balloon fell out of the sky.  An orange balloon landed on the bench seat closer to the coordinator and was gently, waving back and forth ever so slightly; they all looked at each other and went back to starring at the balloon waving. Finally, the owner’s wife, Sandy broke the moment of silence and said, “I think this is a sign from above, Brandon’s way of thanking you.” She walked away with tears in her eyes.  The Coordinator’s husband shook his head in disbelief, while hugging his wife.  He silently turned away, headed back to the arena to finish tearing down, with his boys and the rodeo help.  Tears running down her face, looking at this one lone balloon she told Brandon, “I hope you enjoyed every minute of your Rodeo.”  Continuing, to sit there by her- self, not believing her eyes as two more balloons fell around her, landing on different benches, repeating the wave.  Daylight, finally arriving, she stood up looked around the empty arena and fair grounds, searching for other fallen balloons, but there were none.  Realizing then and there, she had known in life and death and felt the spirit of a very special child.

I very much appreciate your time, consideration and for letting me share some of Brandon’s story.  He was a wonderful child with a horrible disease.  Hope you can join the team of Brandon’s Buddies and become a World Champion sponsor/vendor for a great Rodeo event, which just keeps getting better!   

“Dedicated to BB, a child full of inspiration and wisdom, beyond; his short time here on earth”

Sincerely,

Carrie Ackerson
Rodeo Coordinator
csacker38@hotmail.com / 859-391-7627

Brandon’s Facebook Page:  Memorial Rodeo Brandon Buckler, request to be his friend…

In 2011 Bev completed her book honoring her children and dedicated the proceeds to support the Children’s Gaucher Research Fund. I reached out to Bev in a phone call connecting two mother’s hearts as we have both have never given up the fight to find a cure to honor our children’s brave little lives. We both have had two very different lives; despite what resources we each had available, a cure was not in sight for our children. Their courage and our faith have inspired us to continue to fight for a cure for this terrible disease.  I encourage each one of you to order and read this book for yourself.  It is quick and easy to order on Amazon in paperback and also kindle format.

Deborah Macres R.N.
Founder
Children’s Gaucher Research Fund

A major recommendation coming from that workshop was to begin the development of a clinical trial protocol for a remaining major unmet medical need in Gaucher disease – treatment of the central nervous system involvement (the brain) in Gaucher disease type 3. The development of clinical trial protocols or assessment tools, that are not specific to the mode of therapy, are critically needed to assess potential therapeutic benefit for Gaucher disease type 3. Because of this general need, the group recommended a new workshop to address the global scope of a treatment protocol or clinical trial design that could determine effectiveness in treating Gaucher disease Type 3 brain involvement.

The workshop members recommended that a small group convene within the coming months to initiate discussions about trial design and to have experts provide measurable outcomes for assessments of new therapies. This would be sponsored by, but completely independent of, at least 4 major companies involved in the treatment of Gaucher disease, including Genzyme/Sanofi, Pfizer/Protalix, Shire/HGT, and Amicus Therapeutics. The workshop would be sponsored and organized by the Children’s Gaucher Research Fund (CGRF) and be conducted by independent experts from the United States and Europe. Drs. Gregory Grabowski, from the US, and Ashok Vellodi, from the UK, agreed to spearhead this effort. The workshop will consist of 6 Gaucher experts, 3 from the US and 3 from Europe, with expertise in the neuropathic manifestation of Gaucher disease.  In addition, 1 or 2 additional experts will be involved for specific aspects of neurologic assessments, for example, brain imaging and/or biomarkers of brain involvement. Each of the companies mentioned above may have one representative at the meeting.

The overall goal of this initial meeting is to develop a common vocabulary and assessments for the neuropathic involvement by Gaucher disease that will lead to measurable endpoints of clinical relevance to assess therapeutic benefit. These metrics may include overall assessments of cognitive and/or neurologic involvement. The group will also address the issue of reversibility of the brain manifestations. The discussions will be facilitated by a highly experienced physician with extensive previous work with the FDA (Food and Drug Administration – USA) and the EMA (European Medicines Agency) so that a document can be tailored for input from the EMA and FDA. After this initial workshop, a second workshop is anticipated. This second workshop that will include the same group of neurologist, plus representatives of the EMA and FDA, patient groups interested in neuropathic Gaucher disease, and additional neurologists. Such additional input will be essential. The goal is to produce a document for the overall assessment of therapeutic outcomes of the neurologic involvement in Gaucher disease type 3.

Fortunately, a number of physicians and staff at the EMA and FDA have previous experience in this area and will be able to provide valuable insights and guidance for the final development of a clinical trials protocol. The final product will be a protocol for discussions with the EMA and the FDA in their deliberations of any type of therapy for the neuropathic manifestations of Gaucher disease. This document will be available in the public domain either as a publication or from the CGRF to investigators and/or companies with a significant interest in developing treatments for the neuronopathic variants of Gaucher disease.

Gregory A. Grabowski M.D.
Professor and Director
Division of Human Genetics
Cincinnati Children’s Hospital Medical Center

In addition, in attendance were scientific researchers from the Parkinson’s field. The connection between Gaucher and Parkinson’s disease is growing stronger, and this is sure to be a segment of Parkinson’s research that will be very important, and will grow in future years.

The meeting was very informal, inasmuch as the scientific sessions were centered around discussion points which had been selected ahead of time. Participants were encouraged to suggest the most outlandish ideas, to participate freely and to engage in lively debate. These goals were achieved and I think it would be fair to say that this was one of the most intense two day discussions that I have ever participated in! It was particularly encouraging to get the input of scientists who did not come from a Gaucher background and many of them had suggestions which, I believe, will be of enormous benefit to the field.

I can do no better than quote one of the participants who sent me an e-mail after the meeting and said something along the lines of “I was skeptical that a meeting like this could work, but in the end I think it was fantastic”. I hope that there will be another similar gathering in the near future to brainstorm about progress made during this period and to inspire new ideas and new research directions.

Tony Futerman, PhD
Weizmann Institute of Science
Rehovot, Israel

At 10 days of age, Dallas’ pediatrician detected an enlarged spleen and sent us the Emergency Room. However, the blood work returned normal so it was decided there was no immediate cause for alarm. With normal family adjustments to a new baby in the home, that first of many ER visits faded into the rear view mirror. His growth and development followed a normal path until 6 months of age when feeding and weight gain issues were the first sign there was a real problem. Following a lengthy diagnostic process that included a false negative test for Gaucher’s, we met with Dr. Schiffman in Dallas Texas for a second opinion. He was compassionate, but offered no false hope. Dr. Schiffmans’ best advice was for us to take Dallas home and love him, and that’s exactly what we did.

Dallas, with his favorite wooden spoon

Dallas bore all the needle sticks and physical exams with incredible fortitude. He protested of course when being held down for procedures, but did not bear a grudge. Soon he would be playing cheerfully again. His favorite toys were the Learning Farm, xylophone, rattles, and a wooden spoon from the kitchen that he banged on cookware or anything else he could reach with it. In just a little over 22 months he touched the lives of many people. Never without his Binky, Dallas embarked on his most famous accomplishment – adding to his list of girlfriends. Dallas was a lady’s man. He flirted with all his female nurses. He had a favorite respiratory therapist and most of all a favorite ICU doctor, Dr. Thapar. Once, she came personally to the ER to escort him to the PICU. The ER doctor said he had never seen such a thing before in his career. Child Life and Pastoral staff were Dallas’ fans as well. On his very last stay in the hospital, Dallas was serenaded by a guitar playing Child Life intern and had a concert in his PICU room. After his death, some of the night shift PICU nurses named a star for Dallas that is registered with Name a Star.

Dallas also loved his home care team and hospice nurse. He got his first toy car from Miss Jenny, a developmental specialist with Texas Early Childhood Intervention program. His home care nurses played with him, read him stories, and made sure that all of his needs were met. Dallas loved to be held. Along with his family, the home nurses spent many hours just holding him. Sometimes, Dallas would not sleep unless he was being held, so that’s what we did.

Most of all, Dallas loved his Mom and Dad. Dallas enjoyed hanging out with Dad and watching sports on TV or going outside for adventures in the backyard. Dallas saved his warmest smiles for Mom. As soon as she came into the room, he really did not have time for anyone else.

Dallas got his trach on August 18, 2011 after a respiratory arrest. The day after surgery, Dallas was lying in bed with his right ankle resting on his left knee like he was catching some rays on the beach. A few days later, Dallas sat with help in his Bumbo chair so he could bang on his xylophone. Despite sedation making his aim a bit off, Dallas just kept on playing.

Karen and Justin holding their precious son Dallas

Finally, when he could not sit up any more, Dallas played on the floor rolling back and forth while grasping toys or shaking a rattle. When he could no longer do those things, his Nonna would build a stack of blocks, and Dallas would smile as he knocked them down. Then we would do it over again.

On reflection, there is so much more to Dallas’ story than the long road to diagnosis and later the unrelenting deterioration of his physical capacity. Actually, Dallas’ story is more about love and perseverance in the face of adversity than just a remembrance of tragedy.

Dallas passed away peacefully on June 1, 2012, a bright summer morning. He was in his mother’s arms with Dad at his side as always. We miss him every minute of every day. He brought love and joy to his family and caregivers that will never be forgotten.

Karen and Justin Thompson

Cypress, Texas

From around the world, experts on the brain meet in Atlanta Georgia

It was for exactly this reason that I was so pleased to be invited to attend a meeting organized by the Children’s Gaucher Research Fund in Atlanta, May 2012. Under the Chairmanship of Professors Tony Futerman (Weizmann Institute, Israel) and Raphael Schiffmann (Baylor Institute, USA), experts in the fields of Neuronopathic Gaucher disease and other closely related neurological diseases were asked to attend. Furthermore, representatives from industry were also present. The format was unconventional in that this was not typical of a conference. Rather, it had the feel of an informal lab meeting with all present sitting around a single table. It reminded me of the old Arthurian Legends in which all Knights of the realm sat as equals with the King within Camelot. In a similar fashion, everyone from Professors down to PhD students were free to speak, criticize, encourage and present their views and data. The discussions were open, frank and to the point. I found it both refreshing and enlightening.

A broad variety of subjects were raised by attendees including: gene therapy (Dr Ahad Rahim, University College London, UK), other alternative therapies (Dr Seng Cheng, Genzyme, USA), disease pathophysiology in mouse models (Dr Einat Vitner and Ms Tamar Farfel-Becker, Weizmann Institute, Israel), biochemistry and cell biology (Dr Greg Grabowski), clinical perspectives (Dr Raphael Schiffmann, Baylor Institute, USA and Dr Ashok Vellodi, Great Ormond Street Hospital, UK), the link between genotype and phenotype (Dr Andres Klein, Weizmann Institute, Israel).

Three distinct presentations were also given on the association between Gaucher disease and Parkinson’s disease (Dr Ellen Sidransky, NIH, USA, Dr John Hardy, University College London, UK and Dr Dimitri Krainc, Harvard Medical School, USA). The link between these diseases is attracting significant attention from research groups around the world. Research into Parkinson’s disease is significantly better funded than Gaucher disease. It benefits from having a higher profile due to its more significant impact on global health in an ageing population. By association alone, this is likely to raise awareness of Gaucher disease.

Another useful feature of the meeting was the presence of experts in diseases similar to neuronopathic Gaucher disease. These included: Professor Alessandra d’Azzo (St. Jude Children’s Hospital, USA), Professor Volkmar Gieselmann (University of Bonn, Germany), Professor Marc Patterson (Mayo Clinic, USA), Dr Konstantin Dobrenis (Albert Einstein College of Medicine, USA), Professor Daniel Ory (Washington University School of Medicine, USA), Dr Morris Benveniste (Morehouse School of Medicine, USA) and Dr Emyr Lloyd-Evans (Cardiff University, UK). They provided invaluable input and highlighted both similarities and differences between the neurological diseases they work on and Gaucher disease. It is often very easy to become very ‘Gaucher-centric’ and insular so objective points-of-view are welcome and we can draw from each other’s pools of knowledge.

This was an excellent meeting and I came back to the UK more informed, with new ideas and contacts that will hopefully form fruitful collaborations. What was clear to me is that significant advancements are being made in our understanding of this terrible disease. This, in turn, will help scientists, like myself, design and target novel therapies that will have a tangible impact on the lives of patients. The presence of representatives from industry is vital in making such a therapy scalable and realistic from a production and economic point of view. The clinicians amongst us have the vital role of translating any therapeutic advancement from the bench to the clinic. Therefore, all the players required in this sequence of events were present in Atlanta and this does not happen often.

I sincerely hope that the CGRF will organize future meetings because this one was very useful.

Dr. Ahad A. Rahim
Gene Transfer Technology Group
Institute for Women’s Health
University College London
London, UK

Lincoln Lewis Wheatley

Lincoln Lewis Wheatley, son of Zachary & Kelly Wheatley, was born into this world on October 24, 2008. Unfortunately, and without anyone’s knowledge, he was also born with Gaucher’s Disease. At about 2 to 3 months of age, Lincoln began to exhibit the start of classical clinical symptoms related to the disease…however, the early symptoms are often common problems, such as cough and cold, poor weight gain, stiffness, etc. Thus, doctors rarely look to something as serious as this disease and for good reason. Hence, this is a primary issue with early diagnosis. With Lincoln, it wasn’t until his little weight gain and chronic breathing issues became too much that doctors started to look at other possibilities. Of course, Lincoln was smiling and happy the whole time, not a care in the world. Every doctor visit, every hospital stay…he was a trooper. At approx. 7 to 8 months of age and after an extended hospital stay, when doctors noticed an enlarging liver and spleen, it was determined that Lincoln may have Gaucher’s disease. Although very rare, Gaucher’s is part of the la

A New Family Arrives

In February of 1994, a family from California had arrived with their 1-year-old son for their first visit at the NIH. As I interacted with this family that first week I was impressed with their proactive nature. They had many questions – many of which were answered well into the evening hours after a long day of testing. Although I would arrive home late on those evenings, I did not mind because the questions were intelligent and thoughtful. To my surprise, prior to each subsequent visit I would receive from this family a Federal Express package – whereby the questions were sent in advance. Eventually they asked two questions that were very difficult to answer.

1. How is the disease affecting Gregory’s brain?
2. Is anyone doing research to find a cure?

To the first question I answered “we do not know” and to the second I answered “not really … any serious research”. I knew this was disheartening news, but at the time it was the truth.

Gregory Passes Away … The CGRF is Born

Greg and Deborah Macres lost their son Gregory to Gaucher disease in April of 1997. I was pleased that subsequent to Gregory’s passing the family continued to stay in touch, and often discussed the possibility of establishing a charity to fund research on Gaucher disease. I was supportive, but withheld my enthusiasm understanding that this family was still coping with the grief of losing a child.

Thinking back to those phone calls some 12+ years ago I never imagined that this desire, spawned by the devastating loss of a son, would result in the Children’s Gaucher Research Fund and the progress they have made over the past 10 years. The Macres family, and other families from around the country, began raising funds, and in 2001 they found their first opportunity to fund serious research on neuronpathic Gaucher disease. It was in the form of a newsletter I sent to the Macres’s from the Weizmann Institute of Science in Israel. In that newsletter there was a small article written by Dr. Tony Futerman indicating that they had formulated a theory, and his laboratory had a keen interest in investigating their theory as to how the brain is affected in children with neuronopathic Gaucher disease. Prior to this I had not met Dr. Futerman, but that year I visited his laboratory in Israel. I was very impressed with his facility, and to my surprise found that we had similar views as to what might be causing brain disease in these children.

Ten Years of Work … Ten Years of Progress

Over the past ten years the CGRF has funded Dr. Tony Futerman’s laboratory, resulting in very important research that has been published in nine separate scientific journal articles. Today, the answers to those two difficult questions sited above have very different answers. Because of the efforts of the CGRF we are significantly closer to understanding how the brain is affected, and yes, there is now serious research being pursued. Additionally, the CGRF recently funded the creation of an Inducible nGD Mouse Model; if successful this will significantly advance serious research in coming years.

Rare Diseases and Families

Often rare diseases do not attract interest or funding, and frequently sit idle for many years with little progress. Over the years however, families have made great contributions to medical research on rare diseases. It usually comes in the form of funding basic scientific research, thus creating the building blocks of understanding. Once these building blocks of understanding are put in place the disease then attracts more interest, and more funding for research. The CGRF has done just this – funding basic science – resulting in publications in scientific journals – sponsoring three international scientific conferences with a fourth scheduled for 2012 – the funding of the Indiclble nGD Mouse that will be available for use by laboratories around the world – links that have been made with some of the 26 other lysosomal diseases that affect the brains in children – the potential connection to Parkinson’s – all contributing to bringing us further down the road toward a cure.

Those Two Questions … Now Have Different Answers

Thanks to those of you who support the efforts of the CGRF, the answers to those two questions sited above are markedly different than they were on that day at the NIH; when a mother and father were simply trying to understand how they could best help their son. We believe, because of your support, that the building blocks are in place and that a new phase in nGD research is around the corner.

Dr. Raphael Schiffmann M.D., M.H.Sc. – Director of the Institute of Metabolic Diseases at the Baylor Research Institute in Dallas, Texas, and Chairman of the Scientific Advisory Board for the Children’s Gaucher Research Fund.

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