The 2014 holiday season was a great one; lots of food, laughter, and stories of the past. Starting in October and lasting until January celebrating holidays is the thought on everyone’s mind. Celebration events do not occur without some withdrawals, especially for a Wolfram patient.
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I am writing this from an airplane on my way home from Southern California after visiting my nephew, Jake, who has been lying motionless in a hospital bed for the last 16 days.
Jake is an unbelievable 17-year old, great baseball player, as well as a type 1 diabetic. He has had diabetes since he was 20 months old. He could not breath the afternoon of December 15th and told his dad he was loosing sensation in his feet. He later collapsed and has been on a ventilator and unable to move his arms and legs since. He was diagnosed with an autoimmune disease called Neuromyelitis Optica (NMO). NMO is a rare relapsing autoimmune disorder that causes inflammation in the optic nerve and spinal cord.
I went out to California to support my sister and to love on my nephew. Everyone thinks they have problems, I am the first to admit, especially watching my daughter struggle with her Wolfram syndrome. However, when you sit in a hospital room all day and watch your 17-year old nephew lie there limp, unable to move anything, we should all be thankful for the problems we have because someone else always has it worse.
It broke my heart because three of his best friends and teammates came over to see him after baseball practice and they all asked him how he was doing. He mouthed, “I can’t move.” He should be the one in that uniform worrying about baseball, what he is going to do on Friday night, homework, etc., not wondering if he is ever going to walk again, use his arms or breath on his own. But for now, all we can do is wait, hope and pray.
A Caring Bridge page has been set up for Jake Peters where you can follow along with his story and progress. We welcome any prayers, thoughts and get well wishes for Jake. Thank you!
I dressed up in a Santa hat and wore a bell when I went to work. The bell jingling as I walked down the hall warned my fellow employees that I was coming. My bosses liked this because then they knew where to find me.
But this gave me an idea. I was going to have to be home by myself with my sisters dog Emmy for a few hours. I worried that I wouldn’t be able to know where she was. She is very nosy and likes to get into everything. She even unwrapped some of my sisters presents at home. We of course needed to get Emmy some toys for her first Christmas. While we were looking around I came up with the idea to get bells to put on Emmy so I would know where she was. My mom found a Santa collar with 3 bells on it that we could put on her. This worked great as I was able to hear where she was. Sometimes you have to be creative and come up with solutions to problems.
I had a very nice Christmas. On Christmas Eve it was just our family and that was nice because it was quiet so we could talk and hear each other. We opened our presents that night. I received 8 new tops, some for dress and some for casual. My mom and sister picked them out. It is the only way I can stay current with fashion. I rely on them to tell me if is really looks good on me or not. They did get me two long sleeve shirts but the material was very light and thin so even with my heat intolerance I shouldn’t have problems wearing them.
The next day on Christmas we went to Church and then up to Omaha to see my mom’s side of the family. My mom had to take me up to the table and tell me what desserts there were for me to try. She has to tell me because I can’t smell them and barely taste them. My tests from St. Louis reported I have no sense of smell anymore. Since it is Christmas time I am going to indulge myself with a few sweets. In order to do this I will need to ramp up my exercise routine and work off those extra sugars and calories. I am not familiar with my aunt’s house. I went to use the restroom and thought I was walking straight but instead ran into the door. Luckily I didn’t hit the door too hard. The only sad part of the party was that my grandparents were not able to come. They were both very sick from Influenza and they couldn’t come and we couldn’t visit them. But I was able to talk with them on the phone.
Of course I was keeping the true meaning of Christmas in my heart.
As I mentioned previously, I had a test done for my oxygen levels over night. I am happy to say they are normal.
I was dreading the thought of having to use a cpap during the night. I did do as the doctor instructed and started taking Vitamin B. Although I still do sleep a lot at night, I am only taking one nap a day instead of 3. That is a big improvement and I think it means I am also sleeping better at night.
When I first went to go to the hospital to get the oxygen machine, the nurse was showing me how it worked. It didn’t take long and I told her I had a rare disease, Wolfram syndrome, that only one person in 500,000 develop. Then she said enthusiastically “oh, can I shake your hand? I have never met a rare person.” I told her she would probably never meet another one like me in which my mother replied “thank God.”
I had a wonderful Thanksgiving Day. Most of my family was able to come down to our house. It’s hard to get everyone together. My cousin had just returned from his second tour of Afghanistan. We all were very thankful to have him with us.
It was hard to hear though. Too many people in one room. Too much noise for someone with hearing aids. I really couldn’t hear the conversations so I just sat there just enjoying their presence. I also had real trouble tasting what I was eating. Sometimes I really did not know what I was chewing. I can’t see it and have trouble tasting it or smelling it so I rely on my memory of what that food tasted like. That is one thing I really missed. Getting up in the morning on Thanksgiving Day and smelling the turkey.
But as I said, the most important thing was being very thankful and having most of my family with me that day. My grandparents are getting old so I treasure every minute with him. I really enjoyed spending time with my cousins and aunts and of course, with my family. My sister brought along her puppy Emmy and I was very thankful for that. I really, really enjoy playing with her.
I hope you all had a very nice Thanksgiving. We all have so much to be thankful for.
Thanksgiving 2014 was a fun filled day of food, family and laughter. The meal felt like a Golden Corral buffet without the Golden Corral. Thanksgiving used to be a favorite holiday of mine but due to Wolfram Syndrome it has become my least favorite. The family getting together and enjoying one another is a great event but the food is another story.
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Eye see you…no I don’t!
One of the many struggles a Wolfram Syndrome patient will experience, is vision loss. As a young man going through grade school, I noticed my vision quickly getting worse. In a classroom amongst individuals my age, I stood out from the crowd by always sitting in the front row, squinting to see the chalkboard, and having to get close and personal with any reading material. Before being diagnosed with Wolfram Syndrome, doctors were unable to properly treat and diagnosed my visual difficulty.
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It’s been an exciting week for me. On Sunday my mom and I went to the grocery store. After we were checked out my mom remembered she needed one more thing. She gave the keys to the sacker and told her to take the groceries out and get Lauren into the car. She also told her where her car was and what color. The sacker led me around to the front seat of the car and I got in. When I was in the car I thought the door seemed a little different. I felt the door handle and thought it felt different. So I got out of the car and when I did two people who were friends of mine were walking past and stopped to say hi. I said to her what color is this car? She replied it was black. I asked her if it was a SUV and she said it was a station wagon. The sacker was just standing there waiting to put the groceries in the car. My friend said I think that one is your car. She checked the key with the lock and it was. And they call me the BLIND one.
I also was able to Skype with one of our new members from Italy. It was Frederica. My mom and I talked to her and her parents but they didn’t understand English. I was luckily able to hear her well. I have trouble hearing people with accents. But she spoke good English and we were able to share information with her. I am looking forward to scheduling another Skype visit with her soon.
My mom had to go out of town last week to care for my sister after her surgery. My mom does all my pills so I had her fill them up for the entire week in case she couldn’t get home. She was in a hurry but took the time to do it. The next day I felt my pill organizer. We have a locator dot or bump put on the side of the organizer that symbolizes my morning pills. I took my pills out for the morning and discovered that there were a lot of them. I started to count how many there were and realized they were the evening pills. So I felt the night pills and confirmed that they were the morning pills. Again I ask you “who’s blind here?”
Sunday was my 28th birthday. I ended up having more than 60 people wish me happy birthday. That made my day much more enjoyable that I received so many wishes from my friends. Every year on my birthday I celebrate that I have made it through another year of fighting Wolfram Syndrome. It’s another year that I am here and I cherish every minute.
Last summer, we had a successful research clinic, with 24 patients and their families attending from all over the world and the US. We welcomed three new patients to our group this year and in a whirlwind 4 days, we performed 22 MRI scans and over 350 individual appointments!
Since then, we have identified additional patients that are good candidates for this study or who are interested in a clinical consultation (or both). Rather than waiting until next summer to collect the research data, we have started to bring these families in to WU one at a time. We call this a ‘mini-clinic’. Each patient undergoes the same tests with our usual wolfram research clinic doctors and investigators, staying overnight in St. Louis. So far, we have done this with 2 families, and 2 more are being scheduled. The mini-clinic has been working quite well and is a nice option for families that can’t or don’t want to travel to St. Louis in July. It also helps us get more data at a quicker pace, which is in the best interests of everyone.
We have also seen four new patients for clinical consultations and for diagnosis of Wolfram. We are always happy to consult with patients or their physicians about whether they might have Wolfram and how to obtain testing. We can also arrange for them to have care by any of our team who has experience with Wolfram.
Thank you to all of the families for participating in all of our research, and to all of our colleagues and staff who help make the big research clinic and our new mini-clinics happen so smoothly.
Tamara Hershey, Ph.D.
Professor
Psychiatry, Neurology and Radiology
Washington University School of Medicine
Scientific Director of Clinic and PI, NIH R01 “Tracking Neurodegeneration in Early Wolfram Syndrome”
Bess Marshall, M.D.
Professor
Pediatrics
Washington University School of Medicine
Medical Director of Clinic
Patients with Wolfram syndrome face multiple challenges in addition to diabetes. That’s why I always feel that Wolfram is the most difficult form of diabetes.
Dr. Fumihiko Urano
Mood swings, anxiety, and depression are commonly seen. Although the molecular mechanisms underlying these symptoms are not clear, we assume that these are related to the dysregulation of neurotransmitter secretion. Endoplasmic reticulum is involved in the maturation and secretion of secreted factors in the brain cells, and Wolfram protein is localized to the endoplasmic reticulum and secretory granules.
Because Wolfram is diabetes with brain cell dysfunction, our candidate drugs should pass the blood-brain barrier. Many drugs cannot reach the brain because blood vessels in the brain have a special structure called the blood-brain barrier. I always make sure that our candidate drugs pass the blood-brain barrier and reach brain cells.
Thank you for reading this. I would like to send kind thoughts toward you. I would like you to stay optimistic. Thank you again.
Take care,
Fumi Urano
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