Editor’s Note: A few months ago, we told you about a study in which a team of Sanford-Burnham scientists led by Dr. Yu Yamaguchi created a mouse model for a rare bone disease called multiple hereditary exostoses (MHE). Over the years, Dr. Yamaguchi has become friends with Sarah Ziegler, a woman whose son has had more than 100 MHE bone tumors and has suffered through 15 surgeries. Sarah co-founded The MHE Research Foundation to advocate for patients and research. Below is a letter she wrote to Dr. Yamaguchi, describing what his research has meant to her and her family.
Dear Dr. Yamaguchi,
Thank you for becoming my champion! You are the world leader in the effort to discover a cure for Multiple Hereditary Exostoses (MHE).
I clearly remember when I first started to read about your research. Even though you were not studying MHE at the time, I knew you were the one person in the world who could research this disease, with its myriad of effects, as a whole, rather than focusing on just one small aspect of it.
When I picked up the phone, you graciously took the time to speak with me in detail. During our call, you told me you were aware of MHE, but not in-depth and would read up and get back to me. Within a matter of days, you called me back. The energy in your voice concerning all of the possibilities was truly profound. This led us to set up our first face-to-face meeting, and I traveled from New York City to La Jolla to visit with you.
During our meeting, we spent hours going over what I had been observing in people who had contacted our organization, the MHE Research Foundation. Beyond bone deformities, I had seen that MHE patients shared many other symptoms. We discussed the orthopedic aspects as well as non-orthopedic effects/symptoms that people with MHE experience and the reasons orthopedic surgeons had not picked up on many of these.
You took up this massive challenge with an energy and vigor that amazed me. Each and every day since, you and your team of researchers in your lab have worked to discover the etiology of MHE by developing the new mouse models for this disease. These new models have borne great fruit! From them, we now know how exostoses form and we know more about the bone deformities that result. Your research has shown MHE is unlike many other orthopedic disorders, in that the mutations in the EXT genes can also cause autism-like symptoms. This is a huge step forward.
As you know, I started my efforts concerning MHE simply as a mother whose son was diagnosed of a disease with no cure. My son and other kids with MHE face a lifetime of surgery, along with all the risks, complications and suffering that MHE can cause. After sitting at my kitchen table, endlessly searching the Internet for clinical and research information concerning this disease and finding so little, I set my life’s course to establish the MHE Research Foundation.
Our efforts have progressed not only within your lab. Last October, you organized the International MHE Research Conference for the Foundation, which was a great success. Then I approached you and Dr. Hudson Freeze a few months later concerning what we could do in honor of International Rare Disease Day held this past February; our meeting resulted in the First Annual Sanford-Burnham Rare Disease Symposium.
Dr. Yamaguchi, you are a paragon of what the research and medical profession stands for – what it can and should be. Together, we have shown by example how advocacy relates to research each and every day, and the progress that can be made. I know with every cell of my being one day a cure for MHE will be discovered.
The importance of a cure cannot be understated as there are only a handful of orthopedic surgeons who have the 20-25 years of surgical experience needed to perform the most complicated surgeries required for MHE patients. For example, the excision of exostoses without damaging the growth plate, excision of exostoses from the spine, the application of external fixation to lengthen and straighten limbs and so on. Despite great efforts by orthopaedic surgeons to improve the techniques, there are always the issues of new growth or re-growth of exostoses. It is readily apparent that surgery is simply not the answer to the whole MHE question.
In closing, I remember standing together with you after that first meeting, looking at the Sanford-Burnham landscape. Even then, as we envisioned future possibilities and inroads that would be made and lead to the accomplishment of our goal to cure MHE, I realized what a life-changing a day it was. I wanted to thank you and Sanford-Burnham Medical Research Institute for your continued commitment on behalf of all people suffering from MHE, and all people who suffer from other rare, neglected diseases. Sanford-Burnham has clearly established itself as the world’s leading research institute for the study of rare diseases.
Co-founder, Vice President & National Director of Research, The MHE Research Foundation
Executive Director, The MHE National Research Registry & Coordinator of Clinical Information