FAQs

Your child’s diabetes will be treated exactly the same way and you will continue to see your endocrinologist just as you did before. All therapies which are used with type 1 diabetes are still recommended in WS. These include the use of pumps and CGMs.

Physician answer : There is a possibility of seeing again, given the deleterious effects of chronic cell stress (endoplasmic reticulum stress) on eye and brain cells in Wolfram syndrome, there is a dire need for regenerative medicine efforts to revive damaged cells. One of the approaches to treat optic nerve atrophy and brain dysfunction in Wolfram syndrome could be a combination of gene therapy and regenerative therapy. The regenerative properties of factor, mesencephalic astrocyte-derived neurotrophic factor (MANF), combined with other factors, including WFS1, have been tested to provide such therapy. MANF has been shown to activate the proliferation of damaged WFS1-deficient cells and confer protection against ER stress-mediated cell death. A therapeutic strategy could be to directly deliver MANF to retinal ganglion cells and neurons via adeno-associated virus (AAV) systems, with the goal of suppressing neurodegeneration and improving visual acuity. Additional safety and efficacy studies will be required to optimize delivery, minimize adverse effects, and maximize therapeutic benefit. The combination of a new device and enhancement of functions or regeneration of remaining cells will improve the visual acuity of our patients in the next 3-10 years, I predict. -Dr. Fumihiko Urano

Depending on the cause, medications like DDAVP and neurostimulators can be beneficial. Botox even works for some.

Please check with your doctor about taking Myrbetriq,

https://www.verywellhealth.com/myrbetriq-mirabegron-oral-5216560

Parent answer: self cathing seems to be the first line for a lot of people, but physical therapy can also help, as well as learning how to “double void”. There are also implants that can be used.

Patient answer: Getting a suprapubic catheter was the best thing I did.

Parent answer: Sodium levels can easily become off and dosages of DDAVP need to be adjusted periodically by your doctor. Too much DDAVP and also too little DDAVP can both cause similar symptoms, so your endocrinologist should be checking sodium levels if you notice any of the common problems which include, but are not limited to, seizure, change in mental status, tachycardia, muscle weakness. There are also new at home sodium meters available but are difficult to obtain.

Patient answer: Sodium levels can quickly become a problem. Do not change your DDAVP on your own without getting your levels checked.

Depending on the severity of hearing loss, many people find hearing aids beneficial.

It is possible. A few known patients do, however, it’s unclear if this is WS related or not.

Yes.  Many patients experience some form of color loss, which can also be progressive.

Asking for school accommodations through your school’s 504 coordinator is a must. Students often benefit from extra time on tests, or materials printed in a manner which best suits them, such as large print , high contrast, or digital files.

Generally, most do not due to the severity of vision loss, and if they do, it’s usually early on in the progression of their disease. Both near and far distance as well as peripheral vision loss, makes driving mostly impossible.

Parent answer: Anxiety and depression are common. Some patients have OCD and paranoia. Some psychiatric issues might be related to other causes, like sodium levels, or may not even be related to Wolfram Syndrome at all.

Patient answer: Medication and therapy are helpful. Wolfram Syndrome can be an all-consuming disease. Don’t hesitate to reach out to your care team.

Parent answer: Hypersomnolence. is common in many patients. Stimulant medications seem to help, even in children. Check with your neurologist (or other provider) for more information and a complete workup.

Patient answer: Fatigue can be caused by many factors. Sleep Apnea is common reason for tiredness, even when you think you’re getting enough sleep, and bipap machines help. Low testosterone also can cause fatigue. Bring these concerns to your physician.

Parent answer: Some patients have trouble with blood pressure which can cause dizziness. Others have experienced dizzy spells when their sodium levels or blood glucose levels are off.

Patient answer: Laying down and waiting for the feeling to pass helps. Your doctor can evaluate your blood pressure and check you for things like Vasovagal Syncope.

Physician Answer- Although there is currently no treatment to delay, halt, or reverse the progression of Wolfram syndrome, novel therapeutics, including gene therapy and regenerative medicine, are on the horizon in the next 3-10 years.  A few supplements, such as CoQ10 and TUDCA, may be beneficial for patients with Wolfram syndrome. I recommend you discuss those options with your physician or with us because Wolfram syndrome is a single-gene disorder with different expressivity (i.e., each patient is different). A personalized management plan should be also discussed with your physician or with us because that helps you delay the progression of the disease and avoid complications related to the disease. Fumihiko Urano, MD, PhD

Esophageal stricture – 

Physician Answer – esophageal stricture is a narrowing of the esophagus (the tube from the mouth to the stomach) that causes swallowing difficulties

Exams and Tests

Treatment

Dilation (stretching) of the esophagus is the preferred treatment. You may need to have this treatment repeated after a period of time to prevent the stricture from narrowing again.