I mentioned last week about feeling like a prisoner in my own home. Let me explain it a little further.
Lauren Gibilisco
This is what it is like for me day to day in my own home. During the summer in Nebraska it is very warm here. I cannot be outside long if it is above 70 degrees. So in the summer I am pretty much stuck in the house. But the same thing goes inside the house. I need the temperature to be no higher than 65 degrees in the house. This is what is comfortable for me but it freezes my Mom and Dad. I also feel bad because it makes our air conditioning bill so high. Any hotter and I have trouble sleeping and exercising. I love to exercise but I can only do it a little at a time because I get so overheated. So, when I am home I either just exercise or watch TV. I only watch what I have seen before because I know what they are saying and doing. But, unfortunately it becomes a little boring watching the same shows over and over again.
Last week I was able to leave the house and go to an outside wedding. There was a nice breeze and it was a little above 70. I was able to enjoy the wedding because I was just standing there. I could only stay for about an hour though because I began to get overheated.
The winter time is a little better for me. I am able to exercise more and go outside to chill out if I become too overheated. It used to be that it was hard going outside if there was snow on the ground. Everything was white and I couldn’t see where anything was, like the sidewalk or street. Now my vision has gotten so much worse so it doesn’t really matter anymore.
I do not say these things for pity or to depress anyone. These are just the cold hard facts of living daily with Wolfram Syndrome. So that is why I sometimes feel like a prisoner in my own house. But I wouldn’t change anything. This is who I am and I love being who I am. So if you ever see anyone outside in the winter wearing only a T-shirt and shorts, don’t worry it’s just me.
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 Foundation2014-10-08 10:00:192024-11-03 11:56:20These are just the cold hard facts of living daily with Wolfram Syndrome – Lauren Gibilisco
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.
Barclay and I are moving forward! As parents you want to do everything possible to provide the best life for your children.
Easier said than done when one of them has a life threatening disease. If you pray hard enough for the strength to just move forward, somehow, the good Lord will provide!
This past weekend Barclay took Raquel to Best Buy and bought her a TV for her bedroom. He mounted it on the wall next to her bed and with it’s swinging arm, she can move it right in front of her face. It has been at least nine months since she has watched TV. After her dad installed it, her eyes light up and she was so excited to sit and enjoy the TV like everyone else. She just wants to be like everyone else.
This week I had a meeting at school with about 12 other individuals from Raquel’s school to discuss her progress. It was a bit overwhelming to walk into a conference room and see all these people sitting around a huge conference table to discuss the needs of you child. I am very grateful that Raquel attends such a great school district and I am even more grateful that Barclay and I are accepting the fact that Raquel has special needs. Her needs keep us fighting; fighting for change, and fighting for a CURE!
Statistics are only numbers but for me they are motivation to stay physically active and nutritionally sound.
After turning 27-years old I thought about the Wolfram Syndrome statistics of 28-31 years of age as the life expectancy. I do not believe it will happen next year but at the same time I will not deny the possibility. All the while, I go to the gym everyday and tell myself that if an early life checkout finds me, I want to be able to say, legitimately, that I never gave up on fitness and nutrition. I did everything in my control to stay healthy. Read more
http://thesnowfoundation.org/wp-content/uploads/2019/06/snow-foundation_logo.svg00Adam Zwanhttp://thesnowfoundation.org/wp-content/uploads/2019/06/snow-foundation_logo.svgAdam Zwan2014-09-30 22:48:072024-10-20 15:33:24Experience Life and Enjoy the Now! – Adam Zwan
I’ve had a few incidences lately due to not being able to see.
The first one was when we went to Olive Garden to eat. When they took us to the table my mom told me it was a booth so I needed to scoot down. So I kept scooting expecting to run into a wall but instead I almost sat right on this ladies lap that was beside me. My mom forgot to tell me it was an open booth so there people on both sides of us. Of course once again I was embarrassed and promptly told the lady that I was very, very sorry. I told her I was blind and she said that’s ok, she was fine.
If I haven’t told you, I shred paper for our local telecommunication center. Who better to do it than someone who can’t see what’s on the confidential papers. So one day I went to get someone’s shredding and I couldn’t find it. Usually they put it in front of me. But this girl didn’t get up to put it in front of me and proceeded to tell me that it was over there. I turned a few times and she kept saying over there, over there until I found it. Once I got it I turned to her and said, “Were you pointing your finger?” She said “yes, it’s just habit.” Then they all started laughing because she knew that I couldn’t see. It just a habit to point to people when they are looking for something forgetting a blind person can’t see them pointing.
I was always colorblind but now I can’t even see colors. It is pretty much just light and dark but mostly dark. I have trouble knowing if a light in the house is on or off during the day because of the sunlight coming through. My mom and I went shopping and she ran into some really cute clothes that she thought my sister would like. She turned to me and said “isn’t this cute?” Of course she knew what she said but then she said sadly that I really wish you could see. It’s just like a right of passage that a mother and daughter could go shopping together and have a fun time looking at clothes. It doesn’t bother me much but it really bothers my mom.
My mom works hard during the week. On the weekends she tries to get some projects done. A couple of weekends ago she needed to paint the garage door. Of course it was a very hot day. Temps were in the high 90’s. I really wanted to help my mom out. I like being able to do things for my mom. So I asked her if I could help. She struggled to find the right words to say to me. She said “I really wish you could but for one it’s too hot for you to be outside and that she really was worried I would get more paint on the driveway than on the door.” Lol. She was probably right. So I went back into the house feeling like a prisoner in my own home.
Last Friday, I had an unbelievable discussion with the owner of a company that has offered their help to The Snow Foundation to expand our wings.
Stephanie Snow Gebel
At the end of the meeting, I remember walking out of his office completely perplexed. I felt like I had just had a discussion with God, my mom, my dad, a priest, my best friend, my husband; the list goes on and on. I felt deflated, yet uplifted. Honestly, I really didn’t know how to digest what I had just heard. He really made me think about my life in ways that I never had before.
Now, here I am five days later. I got the kids off to school, cleaned up the house, did a few bills and answered a few emails. Then, I climbed back into bed and put the sheets over my head and cried. I felt depressed and overwhelmed with LIFE. I have many questions that I want answered. I want to know WHY certain things happened. Growing up, I always wanted to know WHY. (Just ask my sister and brother. Our family dinner discussions would last an hour longer than needed because I would go head to head with my dad on wanting to know why. I had many bruised legs from J.T. kicking me under the table, because he wanted me to shut up and let it be…). My personal world, my business world and my SAVE the Wolfram World completely overwhelm me at times. I thought, maybe mentally I am not strong enough to handle all of this. I laid in bed feeling sorry for myself and prayed to God for continued strength, especially strength of the mind. The mind is so powerful and it can take you places that you really don’t want to go. Unfortunately, I have been to a couple of places that I do not wish to re-visit. Still under the covers and crying and being pissed off, a thought came to mind. I believe this came from the man upstairs. It was time to grab my phone and listen to Oprah and Deepak Chopra’s meditation message of the day.
A couple weeks ago, the Foundation’s Executive Director and I had challenged each other to a 21-day meditation with Deepak and Oprah. It’s been tough because we both have four children, run the foundation and much much more, but we decided to give it a try. When we actually keep our minds from wandering, it’s been great! Today’s message was on GRATITUDE.
“There is a deeper kind of gratitude that goes beyond our conceptions and beliefs of good and bad. This expanded sense of gratitude rejoices in life exactly as it is, right now….life is perfect in spite of its imperfections. Our heart is big enough to embrace and appreciate life as a whole, just as it is, without worrying about whether it is good or bad.”
It was great to hear that Oprah has her moments of self doubt, just like me. Oprah has taught herself to let these emotions pass and she continues to remind herself that she is “thankful for all that she has TODAY.” I need to try and train my mind to be thankful for all that I have and know that bad things happen to good people and I may never know why. As I continue to grow day to day, I am trying to teach myself that I don’t need to know WHY everything happens. When life hands you lemons, you need to make lemonade…sometimes the lemonade is mediocre other times the lemonade is outstanding, it doesn’t really matter does it, as long as you still make it!
I was watching the video that our friend and patient, Alejandro, was doing an ice bucket challenge.
Dr. Fumihiko Urano
This project originally started for ALS. So I was checking the ALS-related websites and found the following youtube video. As most of you know, ALS (amyotrophic lateral sclerosis) is a neurodegenerative disease, leading to the progressive degeneration of the motor neurons. As a result, patients with ALS may become totally paralyzed.
In these video series, many friends of Mr. Hiro Fujita, who has lost his voice due to ALS, read his messages. The project is called “END ALS.” He was in the advertising business. So many celebrities read his messages. One of his messages was toward his mother. I would probably say the same word. There is an English caption in each video. He said, “Mom, Thank you.”
He has a website, END ALS. He often uses the word, “HOPE.” What do we need to help our patients suffering from life-threatening diseases? How can we create HOPE? Let’s think about the basics.
1. Make correct diagnosis and refer them to the best specialists.
2. Develop therapeutics to stop the progression.
3. Replace damaged tissues.
These three should happen simultaneously. We need all of these. I want to END WOLFRAM, END DIABETES, END ALS, and…
I hope you will have a wonderful day. Thank you for reading this blog. Thank you for your supports. Thank you, thank you, thank you.
Thank you again, and Regenerate to Beat Degeneration.
Posted: 01 Sep 2014 05:53 AM PDT
I was surprised and glad to see that our patient and friend, Alejandro, was doing an ice bucket challenge for Wolfram syndrome. Thank you again, Ale and the team Alejandro!
I often get questions about “regenerative medicine.” I really like the following video created by the Mayo Clinic. “Regenerate” is the opposite of “degenerate.” Because Wolfram syndrome is a degenerative disease, the best way to counteract is to “regenerate” damaged tissues.
http://thesnowfoundation.org/wp-content/uploads/2019/06/snow-foundation_logo.svg00Dr. Fumihiko Uranohttp://thesnowfoundation.org/wp-content/uploads/2019/06/snow-foundation_logo.svgDr. Fumihiko Urano2014-09-01 22:18:212020-09-07 20:10:36END WOLFRAM, END DIABETES, END ALS
Updates from the 2014 Wolfram Research Clinic at Washington University
We had an exceptionally successful research clinic this year, 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!
We now have patients who have been seen up to 5 years in a row, providing an incredibly important view of the pattern of changes in symptoms that patients experience.
These data are now being analyzed so that we can determine the natural history of neurological changes in Wolfram Syndrome. We believe that neurological symptoms need to be targets of intervention and that we must have reliable markers of change that relate to meaningful outcome. These are critical steps before any clinical trial can be initiated.
So far, our data indicate that there are very common, early neurologic features in Wolfram Syndrome, including reduced retinal thickness, color vision, smell identification, gait and balance and size and integrity of specific brain structures. Furthermore, we have early indications that some of these measures do not change reliably over a year’s time, whereas others may be more likely to change in a specific manner. This information could thus guide us in selecting the measures to monitor in any future clinical trial.
We hope to continue to collect data on our existing group of families, and add new families as we are able to get to these important answers more quickly and reliably.
Thank you to all of the families for participating, and to all of our colleagues and staff who helped make this unique and complicated clinic happen so smoothly.
Tamara Hershey, Ph.D. Professor
Psychiatry, Neurology and Radiology Washington University School of Medicine
Scientific Director of Clinic and
Principle Investigator, NIH R01 “Tracking Neurodegeneration in Early Wolfram Syndrome”
Today I was riding my exercise bike and reading “The Cure” which is about a desperate father, John Crowley, who loved his children and had committed his life to finding a cure for Pompe Disease.
Stephanie Snow Gebel
I read an excerpt towards the end of the book where John, an Ivy League graduate, had been able to pull together a $137 million company in one year. It made me feel inadequate because I did not have the accolades that Mr. Crowley did. I felt sad because I should be doing more for my daughter.
I graduated from the University of Arizona, majored in Sociology with a minor in Exercise Physiology. I worked for the St. Louis Rams for 10 years as the Office Manager and Player Contract Administrator. After the birth of my 1st daughter Merry, now 14, I was lucky enough to be a stay-at-home mom for her and my other three children. As I was reading, I thought to myself,
“I wish I had the same qualifications as John Crowley and I wish I had the wealthy business contacts that he has. He made it sound so easy”.
Believe me, I have worked really hard, along with many others, to raise close to $800,000 for an “Ultra Rare Orphan Disease”, but at the end of the day, I still need more money. I need the kind of money that Mr. Crowley has raised to really make a difference. Honestly, the whole situation saddened me. My mind started racing a mile a minute with these questions:
“What if I had gone to Notre Dame? What if my dad and mom were still alive? Oh how they would help. The contacts they would make, the money that my dad could raise. What if my dad never got remarried after the death of my mom? What if she hadn’t taken his inheritance after being married less than 3 years and estranged from him for over 1 1/2 years? Why didn’t she just give him the divorce he so wanted? Oh how I could have used that money to help this situation. What if just one wealthy individual made a donation of $1,000,000? That would change the trajectory of the current research that is taking place and would speed up the process and save these children from losing their lives and their dignity.”
I was overwhelmed with the constant barrage of thoughts running through my head. I am sure everyone has been here before with thoughts that keep multiplying, instead of working on the issue at hand. We try and think of how it could have been different. We re-direct our focus, which we think might help us momentarily, but it doesn’t at all. It makes you feel worse. I tried to keep riding my bike and continued to read, although, I was reading but you know how it is to read something but you are really thinking about something else. I put the book down, pedaled a little harder, closed my eyes and gave myself a pep talk. It was like the pep talks my mom and dad used to give me.
“This is your story Steph, not John Crowley’s, but YOUR story. Focus on the energy of today, not the energies of the past. Make the energies of today count”.
With this thought, I focused on how this energy will recharge, restore and replenish my mission, and that mission is to save Raquel and others like her. With my pep talk, I felt better. I smiled and remembered the Chinese proverb that my old boss, Jay Zygmunt told me when I became a MOM “mom on mission”: “A journey of a thousand miles begins with one small step”. And with that, I stepped off the bike and went back to focusing on being a MOM.
My uncle and aunt from New Orleans, LA are retiring and moving to Wilmington, NC during August this year. As a welcome to Wilmington party the rest of the family helped to prep my relative’s new home.
We tried to show them a good time by going to restaurants and with trips to the beach. It was all a great welcome to Wilmington venue until flights were taking off and my body started to experience health complications.
It all started in the middle of the week on Wednesday with late night shivering and hot flashes. After experiencing fever symptom for three nights in a row I was taken to the emergency room to find out what was going on. I spent Friday night in the ER waiting to hear answers. After the urinalysis, blood draws, x-rays and questioning it was finally diagnosed. Since Wednesday the fever occurrences and shivering were all symptoms of bacteria in my urinary track, bladder, and kindest.
The infections have occurred so often that I was advised not to seek antibiotics until I had a fever that would not break and or I was experiencing unbearable pain. Thus, if I keep taking antibiotic for every infection the bacteria will evolve into an incurable one. As a result my infections are resistant to all antibiotics except for two IV antibiotics. This is my primary reason for not rushing to the ER before Friday night. Also, if the infections reach a resistance to the last two IVs then the next bladder infection will result in high blood pressure, high heart rate, and pain that will all finish with a heart attack.
By Saturday morning I was released home with three different medications to attempt until the blood cultures were executed. So right now I am experiencing any pain or shivering but the wait for blood cultures to confirm I am on the right antibiotics continues. All in all, welcome to Wilmington Aunt Gina and Uncle Rick!
I’ve had a few incidences lately due to not being able to see.
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