Every time I reach into my refrigerator and see Raquel’s big orange medicine bottle, I am in awe. Seven years ago, I was told, “Your child has a rare disease that will take her vision, hearing and balance. She will be insulin dependent, suffer from neurodegeneration and most likely not live past her 30th birthday.” Since that day, this disease has been a big bully in our lives and so many people’s lives. But I don’t like bullies, and I would never let one push me around.
The orange bottle represents more to me than anyone will ever understand. I remember driving home from the hospital, the orange bottle in my hand, and my husband, Barclay, looked at me and said, “We did it.” When we first learned about Wolfram syndrome, we were told there was no drug therapy or cure, and the chance of finding either one in time to help Raquel was next to impossible. Still Barclay and I, together with other patients , family members, researchers and doctors fought this bully and succeeded. The trial has just started, and families are coming to St. Louis to get their loved ones started on this drug. It’s a nerve-racking time for all, especially Dr. Fumihiko Urano. We don’t know if the drug will work, and we know it’s not a cure, but it has the potential to stop the progression of the disease. We are overcoming the bully and winning the fight.
The Snow Foundation could not have done this without our donors. Your support has made a real and lasting impact on those who suffer from Wolfram syndrome and those who have to watch them suffer.
We would like to give you an update on the Washington University Wolfram Research Clinic study, also known as our ‘natural history’ study. This work began in 2010, initially supported by the Snow Foundation. For the past 5 years, it has been supported by a National Institutes of Health grant in Dr. Hershey’s lab (Tracking Neurodegeneration in Wolfram Syndrome; Hershey, Principal Investigator). The focus of this grant is on understanding the neurological changes that occur over time in Wolfram Syndrome, including the function (e.g. vision, balance) and the structure of the brain (e.g. the volume or integrity of different regions of the brain).
We wanted to thank all of you for the time, effort and support that you have provided to Wolfram research.
The trips to St. Louis, answering questions, doing tests and behind-the-scenes support have all had a huge impact.
The data we collected has allowed us to determine what measurements can be used in clinical trials to detect whether a treatment is working or not. Before this study, we had no way to tell if someone’s progress was getting worse or better. This information has helped in the design of Dr. Urano’s safety study in St. Louis and Dr. Barrett’s intervention study in Europe. In addition, we now know that there are individual differences in the severity and rate of change of brain-related effects of Wolfram Syndrome. One of our next goals is to understand why some people have mild brain-related symptoms that change slowly and some have more significant symptoms that occur earlier and change more rapidly. Such information could help families and doctors, and would be important information for clinical trials to take into account.
We also wanted to remind you that the grant supporting the WU Wolfram Research Clinic is in its last year. We are submitting a revised proposal to NIH to continue the project and will know if it will be funded by the fall of 2017. In the meantime, this summer will be a very small clinic just to finish up a third year of data collection on a small number of families. We hope that we can return to larger clinics in subsequent years. As always, we will keep you up to date with our WU Wolfram Research Clinic newsletters, the Snow Foundation newsletters, our website (http://hersheylab.wustl.edu) and emails or calls. Please contact any of us at any time if we can provide more information or assistance, we would love to hear from you!
Thank you!
Tamara Hershey, Ph. D.
Professor & Principal Investigator,
WU Wolfram Research Clinic
At this point we’ve attempted to contact all of the research clinic patients regarding the changes in the 2017 WFS Research Clinic. For those that we were not able to be contacted by telephone (after several attempts), a letter was mailed to their homes. It is important that you know the parameters of the 2017 clinic and how your role may or may not have changed. As a reminder, there will be a total of 9 families attending the clinic in 2017 – 6 returning and 3 new families. If you are a WU WFS Research Clinic patient and you have not heard from us or if you are unsure if you will be needed at the clinic in 2017, please contact Samantha Ranck at your earliest convenience.
Rare Disease Day, 2/28/2017
Wolfram Syndrome meets the definition of a rare disease in the USA as it affects fewer than 200,000 Americans at any given time. Rare Disease Day is celebrated on the last day of February each year. While we celebrate on a specific day, involvement is ongoing throughout the year and anyone can get involved. “The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.” You can learn more about how to get involved at rarediseaseday.us.
Dr. Hershey and Dr. Marshall with members of the Wolfram Research Clinic Team gathering in support of Rare Disease Day.
Research Update
Dear Research Clinic Families:
I would like to give you an update on the Washington University Wolfram Research Clinic study, also known as our ‘natural history’ study. This work began in 2010, initially supported by the Snow Foundation. For the past 5 years, it has been supported by a National Institutes of Health (NIH) grant in Dr. Hershey’s lab (Tracking Neurodegeneration in Wolfram Syndrome; Hershey, Principal Investigator). The focus of this grant is on understanding the neurological changes that occur over time in Wolfram Syndrome, including the function (e.g. vision, balance) and the structure of the brain (e.g. the volume or integrity of different regions of the brain).
I wanted to thank all of you for the time, effort and support that you have provided to Wolfram research.
The trips to St. Louis, answering questions, doing tests and behind-the-scenes support have all had a huge impact. The data we collected has allowed us to determine what measurements can be used in clinical trials to detect whether a treatment is working or not. Before this study, we had no way to tell if someone’s progress was getting worse or better. This information has helped in the design of Dr. Urano’s safety study in St. Louis and Dr. Barrett’s intervention study in Europe. In addition, we now know that there are individual differences in the severity and rate of change of brain- related effects of Wolfram Syndrome. One of our next goals is to understand why some people have mild brain- related symptoms that change slowly and some have more significant symptoms that occur earlier and change more rapidly. Such information could help families and doctors, and would be important information for clinical trials to take into account.
I also wanted to remind you that the grant supporting the WU Wolfram Research Clinic is in its last year. We are submitting a revised proposal to NIH to continue the project and will know if it will be funded by the fall of 2017. In the meantime, this summer will be a very small clinic just to finish up a third year of data collection on a small number of families.
It is my hope that we can return to larger clinics in subsequent years. As always, we will keep you up to date with our WU Wolfram Research Clinic newsletters, the Snow Foundation newsletters, our website (http://hersheylab.wustl.edu) and phone calls, letters or emails.
Please contact me at any time if I can provide more information or assistance, I would love to hear from you!
Best,
Tamara Hershey, PhD (tammy@wustl.edu)
Professor & Principal Investigator,
WU Wolfram Research Clinic
We appreciate the understanding you have all shown with regards to the smaller research clinic this year. Some of you may find it a welcome break! But, I will certainly miss seeing you all. We do hope to see you again next year if the grant funding comes through. The safety study with Dantrolene headed by Dr. Urano is underway. As the study has only recently gotten started, it is much too early to say whether Dantrolene will be safe for use in Wolfram. This study will not determine if Dantrolene affects the progression of Wolfram. A study that can give that answer will have to wait until the safety study tells whether or not Dantrolene is safe.
I have just submitted an abstract reporting on your diabetes mellitus testing – everyone’s favorite Boost test. The meeting is the 10th International Meeting of Pediatric Endocrinology and will be in Washington, D.C., this fall. Fingers crossed that they like the abstract!
I know that you all keep a close watch for new developments in care of Wolfram. So, you may have heard about the “Hybrid Closed Loop” insulin pump system from Minimed/Medtronic that has been approved by the FDA. This system is not a true “artificial pancreas” as it uses only insulin and not glucagon. But, it does have a continuous glucose monitor that “talks” to the pump, telling the pump to give less insulin if the glucose gets too low and to give more if the glucose gets too high. If it works as the FDA studies showed, it may be something valuable for people with Wolfram diabetes. The system is not yet on the market, but you will likely hear a lot about it. The company has said they expect it to be available later this year. Unfortunately, there is usually a lag time before insurance begins to cover new developments such as this.
I have written a few letters for appeals to insurance, disability, and school accommodations. If anyone needs this sort of thing, please feel free to ask. College bound people please be aware the there are some scholarships for people with various health problems, including diabetes.
If we will not be seeing you this year in the research clinic, please update Samantha if you have any health changes. We are interested in changes in your medications, any new or changed diagnoses, admissions to the hospital, illnesses, or operations, or changes in symptoms of existing problems. As always, please feel free to call or email if you have any questions, concerns, or requests.
All the best,
Bess Marshall, MD (Marshall@kids.wustl.edu)
Pediatric Endocrinologist & Research Clinic Medical Director
Resources
For more information about Wolfram Syndrome and the WU Wolfram Research Clinic go to: hersheylab.wustl.edu
Children Living with Inherited Metabolic Diseases (CLIMB) – http://climb.org.uk
Congratulations to Gentian, the Italian committee on Wolfram Syndrome. Gentian founder, Federica D’Elia, conducted her first-ever community event for WS patients, families and specialists in rare disease. Some of the specialists who attended were Professor Roberto Vettor, Dr. Pietro Maffei, Dr. Giuseppe D’Annunzio and Dr. Edward Callus. The seminar was held in Padova Italy on March 25, 2017.
Stephanie Snow Gebel was asked to attend and speak about the paths The Snow Foundation has created to help others begin their efforts in fundraising, awareness and research. For more information on Gentian please visit their website.
I would like to begin by thanking you. I always appreciate your continued support, encouragement, and kind words. We all want to help and save our patients with Wolfram syndrome. Our patients encounter multiple challenges every single day, including diabetes, low vision, headaches, anxiety, low sodium, abdominal pain, and etc. In addition to their health-related issues, they often face other challenges due to their medical conditions. I have to say that I face situations that seem impossible at times, but I can keep on going because of you. I always feel that we are working together.
Our clinical trial is in motion. Thanks to the Snow Foundation’s support in collaboration with the White Foundation and the Silberman Family fund, we have achieved our first milestone of enrolling 12 patients. Some patients are currently on low dose dantrolene sodium, our investigational drug. Since National Institutes of Health have decided to support our clinical trial, now we can enroll more patients, which I feel fortunate and grateful. I am working very hard to secure more funds for our next stage. I would like to set up multi-center international clinical trials. We need to bring potential new therapies to patients all over the world.
We are making steady progress in the development of novel drugs that can stop the progression of the disease. My ultimate goal is to develop breakthrough gene therapies and regenerative therapies to restore functions of damaged cells, including eye and brain cells.
Thank you again for your support. I have not met with many of you supporting me, but I think of you and appreciate your continued support.
My journey started 28 years ago. My daughter was two years old when she was diagnosed with Type 1 Diabetes. We were able to manage it and still live a great life. When she was 12, she started to have other health issues, specifically, problems with vision and extreme thirst. Our ophthalmologist suspected Wolfram Syndrome (WS). He noticed the pale optic nerve, and he suspected she also had Diabetes Insipidus. Our endocrinologist suspected Lauren had either a brain tumor or WS. Of course, not knowing what WS was, all I heard was brain tumor. Lauren underwent an MRI that determined she didn’t have a brain tumor, and we were ecstatic, until we learned what WS really was. I felt it was a death sentence.
“It took me 54 years to publish my first book and only 54 days to publish my second book. My latest book is Independent Living Support – Vision Loss Resources in all states including Guam, Puerto Rico, and the Virgin Islands.
I wrote this book to help all the people that are trying to help someone with low vision. It teaches you the basics, and gives you a list of all the best places to get that person help in their community. The book includes all states, Guam, Puerto Rico and the Virgin islands. Accessibility dot Net, Inc. is the publisher.”
Every time I reach into my refrigerator and see Raquel’s big orange medicine bottle, I am in awe. Seven years ago, I was told, “Your child has a rare disease that will take her vision, hearing and balance. She will be insulin dependent, suffer from neurodegeneration and most likely not live past her 30th birthday.” Since that day, this disease has been a big bully in our lives and so many people’s lives. But I don’t like bullies, and I would never let one push me around.
Congratulations to Gentian, the Italian committee on Wolfram Syndrome. Gentian founder, Federica D’Elia, conducted her first-ever community event for WS patients, families and specialists in rare disease. Some of the specialists who attended were Professor Roberto Vettor, Dr. Pietro Maffei, Dr. Giuseppe D’Annunzio and Dr. Edward Callus. The seminar was held in Padova Italy on March 25, 2017. 
