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.
In honor of the upcoming St. Patrick’s Day holiday. This was me from last year.
Recently I was contacted by someone who works with me. Her nephew’s girlfriend needed to write about someone with a disability. Of course she thought of me. Who better to pick from then someone with more than one disability?
I received a phone call from her and she introduced herself and told me what she needed for the report. I told her I had Wolfram syndrome. Her first questions were at what age I was diagnosed which I said was 12 when I was finally diagnosed with Wolfram syndrome but had diabetes mellitus at age 2, hearing loss age 5, vision loss and diabetes insipidus age 11.
She wanted to know if I had been treated differently by anyone because of my disease. I told her yes. In High School the teachers were great and made accommodations that I needed. I only had a few friends in high school. A lot of kids thought I was faking. They were nice to me but only a few went out of their way to help me. No one offered me rides home and to go shopping or to go to school activities. I was home alone a lot. You see my disabilities weren’t VISIBLE. They didn’t know how much was wrong with me because all the problems were inside of me. If I had lost a leg then people can see and will help you. They didn’t know all my problems with choking, ataxia, heat intolerance, seizures, fatigue, bladder issues, hearing loss, vision loss, etc. All of these problems at that time were invisible. Then in college I didn’t start using my cane until my last year. It wasn’t that I couldn’t see some but had become adept at counting doors, counting steps and feeling my way around. My Human Service Director thought I was even faking because I could do things so easily. I was able to have my text books downloaded and had computer software then read me the words. In spite of my disabilities I was able to have been ranked 8th in my high school and was a member of Phi Theta Kappa in college.
I told her about the lack of research when I was first diagnosed and now how much research is being done in St. Louis with Dr. Fumi and his team. When I was diagnosed there was very little written about Wolfram syndrome. My mom spent hours on the computer researching it and was able with another Wolfram parent to start the very first web page with a support group. It was how we were able to meet more people. I also told her that now I have several friends from all over the world. They are in England, Spain, Switzerland and Italy, Canada, Australia and of course the US. What is great is that I can actually see them and talk with them through Skype. It is fun talking to them although their accents sometimes make it difficult to hear. I also told her about the Snow Foundation and my blogs on their website so she could read them and get a better feel of who I am.
I told her of my desire to be a cop but I didn’t think they would give me a car or gun since I am blind. When I was younger I had different dreams for myself but sometimes you have to change your dreams to fit life.
She asked me how I am doing now in my life. I said “As far as I see”, I am doing well. Haha.
http://thesnowfoundation.org/wp-content/uploads/2019/06/snow-foundation_logo.svg00The Snow Foundationhttp://thesnowfoundation.org/wp-content/uploads/2019/06/snow-foundation_logo.svgThe Snow Foundation2015-03-08 22:57:042024-11-03 11:16:14What It’s Been Like – Living With Wolfram Syndrome
I receive many questions related to Wolfram syndrome and other medical conditions. Here are some of them. Please feel free to contact me if you have any questions.
Dr. Fumihiko Urano
Q: What is diabetes insipidus?
A: Diabetes insipidus is one of the common symptoms in patients with Wolfram syndrome. It is defined as the passage of large volumes of dilute urine. It has the 2 major forms, and patients with Wolfram have the central diabetes insipidus.
1. Central (neurogenic, pituitary, or neurohypophyseal): characterized by decreased secretion of antidiuretic hormone called vasopressin.
2. Nephrogenic: characterized by decreased ability to concentrate urine because of resistance to vasopressin action in the kidney.
Q: What is optic atrophy? Is it different from retinopathy? Is there any treatment?
A: The mechanisms of vision impairment in Wolfram syndrome and type 1 diabetes are different. In short, the vision impairment in type 1 diabetes is a problem in small blood vessels supplying nutrition to the eyes. It is caused by high blood sugar levels and called retinopathy.
The vision impairment in Wolfram syndrome is a problem in neuronal cells in the eyes transferring the electrical signal produced in the eye to the brain. It is caused by neuronal cell death and called optic atrophy.
There is currently no treatment for optic atrophy. One of the major neuronal cells in the eyes declining in Wolfram syndrome are “retinal ganglion cells” which transmit electrical signals to the brain. If we can make these cells and transplant them to Wolfram patients, we can possibly treat blindness or improve eyesight. To accomplish this, we need a source for new retinal ganglion cells. I believe that induced pluripotent stem cells (iPSCs) is the source for the new retinal ganglion cells.
Q: “Is there any relationship between diabetes and optic nerve atrophy?”
A: This question implies a few different things. Here are my answers.
1. Type 1 Diabetes
I believe that there is no direct relationship between type 1 diabetes and optic atrophy. Type 1 diabetes is an autoimmune disease. Our immune cells attack antigens highly expressed in pancreatic β cells in type 1 diabetes. These autoimmune cells usually do not attack optic nerve although patients with type 1 diabetes are susceptible to other autoimmune diseases. As I mentioned in my previous blog, patients with type 1 diabetes may develop retinopathy if there blood sugar levels are not properly controlled.
2. Wolfram syndrome
In Wolfram syndrome, there is probably a direct relationship between diabetes and optic nerve atrophy. Both pancreatic β cells and optic nerve are susceptible to endoplasmic reticulum dysfunction. So β cell death and death of retinal ganglion cells have the same etiology, i.e. ER dysfunction.
3. Do all patients with Wolfram syndrome have diabetes and optic nerve atrophy?
The answer is, “No.” In most cases, diabetes is the first manifestation of Wolfram syndrome, followed by optic atrophy. However, there are some patients who develop optic atrophy first and don’t develop diabetes for a long period of time. I know one patient with Wolfram whose diabetes was diagnosed at 40 years old. I don’t know why, but it seems like these patients tend to have milder symptoms. I am very interested in carefully studying these patients because I may be able to find a way to delay the progression of Wolfram through these patients. This effort is underway (i.e., modifying my human study protocol).
Q: What can you do to improve “neurogenic bladder”?
A: Many patients with Wolfram syndrome experience neurogenic bladder. I always recommend that a patient consult with a urologist if he/she has a problem in urination. Here are my thoughts.
1. What is neurogenic bladder?
Our urination is regulated by two types of muscles in the bladder. These are the detrusor muscle and sphincter muscle. When we urinate, the detrusor muscle pushes out the urine and the sphincter muscle relaxes to open up the way out. These muscles are controlled by a part of the brain and neuronal cells connected to the bladder. Neurogenic bladder is a term applied to dysfunction of the bladder due to dysfunction of a part of brain and neuronal cells. In short, this is a problem in neuronal cells.
2. What can you do?
I always recommend that a patient see a urologist to determine the status of neurogenic bladder and get advice.
3. Our progress
As I mentioned in my previous blog, our recent progress strongly suggests that neuronal cell dysfunction in Wolfram syndrome is caused by dysregulation of cellular calcium homeostasis. We are developing a treatment to manipulate the calcium homeostasis in patients’ cells using a drug, and making significant progress. I hope that my strategy will work out.
Q: What are electrolytes and sodium?
A: Electrolytes are “salts” in our blood and cellular fluids. The difference between the concentrations of these salts inside and outside the cells regulates the contraction of muscle cells and the signal transduction in brain cells (neurons). Sodium is the major salt outside the cells. The reference range for serum sodium is 135-145 mmol/L.
It seems like some patients with Wolfram syndrome experience “low sodium.” Our body regulates sodium levels by balancing water in the body with use of antidiuretic hormone. DDAVP is often prescribed for patients with Wolfram syndrome because they tend to produce less antidiuretic hormone and produce excess amount of urine. DDAVP is a synthetic antidiuretic hormone, regulates the body’s retention of water, and decreases the volume of urine. The challenge for Wolfram patients is that they tend to have bladder problems and may need to go to bathroom often. This is not because of the excess production of urine, but they may increase the dose of DDAVP, which increases the body’s retention of water and may lead to low sodium levels. As our colleague Dr. Marshall recommends, Wolfram patients should consult with their endocrinologists if they feel their serum sodium levels are low.
In addition, serum sodium levels may not be reliable when patients have poor renal functions or have severe hyperglycemia.
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