While working on Wolfram syndrome there are three things that are always on my mind: improving clinical care, raising awareness, and providing a cure. These three things motivate myself and my team to work hard every day.
Improving Clinical Care
Our effort to understand the progression and neurological symptoms of Wolfram syndrome will help improve the clinical care we give our patients. Clinical trials throughout the world have specific qualifications before they begin and thanks to our researchers from around the globe in the last few years there has been significant progress and we now know the appropriate measurements to use in our clinical trials. There are also new hypotheses on how Wolfram syndrome affects the brain that will soon be tested in research models, which will lead to more targeted treatments for the neurological systems and improve the clinical care for the patients. This is all thanks to multiple foundations around the world like The Snow Foundation who are helping us raise awareness and helping us raise funds to make these trials possible.
Raising Awareness
Awareness for Wolfram syndrome has grown significantly with help from advocate groups such as The Snow Foundation and the Ellie White Foundation. We could not have accomplished the research we have conducted so far without these organizations and other advocate groups and we want to thank and recognize all the groups for being a part of our research efforts. However we still depend heavily on NIH (National Institutes of Health) grants to help us with a significant amount of funds for our research to find a cure. NIH grants have increasingly difficult to get and we are working on getting more funding in the next year. The awareness and research funds play the largest part in helping us find a cure for Wolfram syndrome.
Providing a Cure
To provide a cure, we need to first delay the progression of the disease so that we have more time to develop regenerative therapies and gene therapies. To accomplish this milestone, I have been focusing on “repurposing” one of the FDA-approved drugs (i.e. existing drugs) for the treatment of patients with Wolfram syndrome. We have been making steady progress on this.
As I reported before, we discovered that dantrolene sodium currently approved for the treatment of spasticity (muscle stiffness) could delay the progression of Wolfram syndrome in animal and cell models. We obtained the orphan drug designation of dantrolene sodium for the treatment of Wolfram syndrome from the US FDA early in 2016.
I have been working on the logistics to commence a clinical trial of dantrolene sodium for the treatment of Wolfram syndrome at our medical center. I hope to start the trial in December of this year and the plan is to enroll 25 patients or more. The trial may last 2 years. I plan to monitor safety, vision, neurological functions, and diabetes in our patients since those are the primary indicators of Wolfram syndrome. As I reported before, type 2 diabetes is associated with Wolfram syndrome 1 gene variations.
We are trying to get more funds from the National Institutes of Health to recruit more patients, and we want to thank The Snow Foundation and Ellie White Foundation for planning to support this trial financially.
Opening the doors
The drive was mostly quiet except for my pounding heart beat. I looked over at Raquel in the passenger seat as she twiddled her thumbs. I felt like I could break at any moment, the nerves were getting to me. I wondered how Raquel felt? Was she ready? I sure wasn’t.
Today was the first day of school. I already sent my eldest daughters, Merry and Lauren to high school. Lauren is a Freshman and Merry is a Junior. They had each other, so I knew they’d be alright, and Merry was already the well-known, popular, star-studded upperclassman. Raquel had no one except for the student aid she was assigned for the first week of classes.
An Anxiety Attack When Meeting the Wolf Pack
My anxiety was at an all time high. When we pulled up to the school and I dropped her off, I noticed the teacher that was waiting to accompany Raquel to her locker. I watched her as she walked away, fearing a sudden misstep or trip over something she couldn’t see, even a small pebble. I tried to curb my nerves, but my heart dropped with every step.
I wanted so fiercely for Raquel to be accepted. After all, she is my baby cub, and I couldn’t bare the thought of her being eaten alive. Sending you daughter who can barely see five feet in front of her into the den of hundreds of crazed pre-teens is like eating cold soup; It leaves a bit of a sour taste in your mouth.
Diagnosing Disaster
The air was cold around me. It was probably just my body reacting to Raquel’s absence. I wanted to hold her hand as she walked through the halls. I wanted to hug her and make sure she was okay. I wanted to be there to scold any child that looked at her like she was different. I knew I had to relinquish my leash. I couldn’t be there to guide her through life in some aspects, and I knew she had to make it on her own. She is growing up, and I think that’s what I fear the most.
Good Fortune
Hours later when Raquel got back in the car, I asked her, “How was your day sweetie?” My heart was racing with the fear of the unknown. I hoped that nothing happened to her. I was trying to hide my worry, but I couldn’t bare the thought of her Wolfram syndrome deterring her happiness. It’s all a mother could want for her child. When Raquel looked at me, I didn’t see the same blank nervousness, but the glint of a smile. “I made a new friend,” she said. With that, I finally was at ease.
Caitlin Fess is a beautiful young lady who has Wolfram syndrome and isn’t afraid to talk about her disease and spread awareness.
The Snow Foundation wants to thank Caitlin’s mother Dena, her father Brad, and the rest of the Fess Family for putting together the Elimination Dinner Event. They raised over $6,000 at the event for the Snow Foundation. We are extremely grateful to the families and their friends who are helping make a difference. We are nothing without all of you.
The Snow Foundation’s event Eat Drink Give, on May 14th, 2016, was a special evening which raised awareness and funds for Wolfram Syndrome Research. The festivities began at 6:30pm on the beautiful grounds of Grant’s Farm in the historic Bauernhoff and Carriage house. Attendees enjoyed a wonderful barbecue, cocktails, beer tasting, and great music by Dance Floor Riot. KMOV Channel 4 Steve Savard was the emcee for the evening and interviewed Raquel Gebel (11) and Lauren Gibilisco (29) who both suffer from Wolfram Syndrome. The event was a success, raising close to $90,000, which will be used to find a life changing treatment for those who suffer from Wolfram Syndrome.
On Sunday, March 20, 2016, Team Alejandro participated in The Oakland Running Festival in their 6th Annual Run to Beat Wolfram Syndrome! Team Alejandro ran in support of 12 year-old Alejandro Jimenez (a Wolfram Syndrome Patient) as well as all children and young adults affected by Wolfram Syndrome. They successfully raised $12,374.00 which will help The Snow Foundation increase awareness of Wolfram Syndrome and find a cure.
Hello everyone. My Botox surgery was a success. I am happy to report that I am getting up only two or three times a night instead of every hour. I don’t feel as tired anymore through out the day. This has made me feel so much better. I am able to drink a lot more and hold a lot more than every before. This gives me a lot more energy so I can talk a lot more which is just what my mom needs. LOL.
I was also able to go back to my volunteer job this week where I shred paper. Who better to shred confidential papers than someone who can’t see anything on them. ha-ha. I’ve had this job since high school which I really enjoy. The people there treat me like anyone else. They don’t pity me. In fact quite the opposite. They love to give me a hard time and tease me. It’s hard to know who is getting more harassed, them or me. My mouth is the only part of me that is not affected by WS.
I should back up and tell you a little about me. I am affected by all aspects of DIDMOAD. DI (DIABETES INSIPIDUS), DM (DIABETES MELLITUS), OA (OPTIC ATROPHY, D (DEAFNESS). I am legally blind and use a cane to get around. I wear hearing aids for high frequency hearing loss. I was diagnosed with Diabetes Mellitus when I was two years old and take insulin shots. The Diabetes Insipidus is controlled by medication. I take 20 prescription pills every day to control my WS. I was diagnosed with WS when I was 12. I have other symptoms but I will talk about them another day.
Have a great week everyone.
The Zwan family celebrating Christmas with their festive holiday sweaters.
A Little Worried?
I feel lucky to have a family that loves me as much as they do but like everything in life there are some consequences. Before being diagnosed with diabetes and then Wolfram Syndrome, I could visit family members and make it an enjoyable event. I still enjoy seeing family but my presence has changed from a pleasant visit to a worrisome task.
In previous years I would pay visits to parts of the family and there would be lots of food, fun, and laughter. In the past few years I have felt guilty for creating so much fear and worry that I think twice before packing a bag to stay the weekend at someone’s house. The fear and worry that I speak of is due to my health and its complications creating this mindset of “I hope nothing goes wrong while he’s here.” My visiting experiences are filled with “can Adam eat this?, has Adam ate enough?, is Adam in pain?, does Adam need to go home early?, Lord I hope nothing happens while Adam is here.” I have had one or two issues with glucose levels during the evening that no longer occur but each time I stay somewhere my family is adamant when using a baby monitor and or sleeping on the sofa next to me just to make sure nothing occurs while sleeping.
I am very thankful to have a family love me as much as I do but pleasant experiences have certainly changed due to Wolfram Syndrome. When I get the feeling that I am a fly in the ointment and not a pleasant visitor I just grit my teeth and say that it could be worse so accept it and count my blessings. I try to stay optimistic by hoping and praying that something will change for the better in the near future.
In January 2013, Adam Zwan was featured by the NBC affiliate in his hometown of Wilmington, North Carolina, WCET News.
The story was to show what it is like for Adam to live with Wolfram syndrome. That night, Adam began to experience severe abdominal pain and was rushed to the hospital where he remained for a week. Despite the delay from Adam’s hospital stay, the news team came back to finish their story. Here is the five minute video on our good friend, Adam Zwan, where you can see for yourself the courage and spirit Adam exudes every day.
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