Stories

In this section there are some testimonies of problems with the Wolfram Syndrome (or their family members).

I found out I suffer from this desease in 2014.
It is considered to be very uncommon, but this doesn’t mean that only a few people are affected by it, only that it is completely unknown.
In my case, the first symptom was optic atrophy, when I was 9. The problem concernes the optic nerve, that connects the eye to the brain. Because of it, my pupils do not react to the light, they remain dilated; moreover, this caused a discoloration, I can’t recognize some colours, they confuse me, above all shades.
Through the years I also started to suffer from laryngospasm: in any moment, season, position I can start coughing until my throat is completely locked (even in my sleep).
In 2011 I found out to be insulin-dependant diabetic, and in 2010 I started to suffer from a problem that affects my life daily: urinary incontinence. I’ve been in a lot of places, here in Varese, I’ve done a lot of exams, and only one of those was able to report that I suffer from overactive bladder, causes unknown. Overactive means that even if it is only half full, I start to have violent spasms, that become a urgent need.
After visiting all the urologists I could find in Varese, in 2003 I tried going to San Raffaele’s hospital. There a really qualified urologist, Dr. Centemero, decided to help me, but she did’t find anything new. So she made a neurologist (Dr. Marcone) visit me, but she didn’t succeed either; so they brought me to a neuro ophthalmologist, for the optic nerve trouble. After three hours of exams, Dr. Cascavilla sent me to a neurological institute in Milan (Besta), to do a genetic test. I have been waiting from October the 5th to June to have the results. Those were months of anxiety, no one explained to me what the syndrome was…it was really bad. I’ve done a lot of research, but on internet I only found scary informations. During my research I found out an american university, Washington University, in St. Luois, that has been studying this syndrome for decades. I wrote to Dr. Urano Fumihiko, that contacted me on Skype; after explaining him my situation, and seen that the results od the test were late, he sent me a blood collector kit, that I then had to send him back for a genetic test. In three weeks I had the results, that confirmed that I suffer from Wolfram Syndrome. Dr. Fumihiko contacted me again on Skype, explaining that it was necessary to test my parents and my brother, too. Same kit, same procedures: in two weeks and a half we received the results. Both my parents and my brother are carriers. Finally, the Besta sent me its results, that confirmed I suffer from this desease. On June the 11th we did another test there, that should have taken less time. We’re still waiting for the results (2015)…
Once I had my results, I started looking for uncommon disease centers, through all Italy. The only one that replied was Gasini hospital, in Genoa. Dr. D’Anninzio decided to recover me and my brother for a week, in order to do a general check up to the organs that cause me all the symptoms. Meanwhile, I created a facebook page about this desease (Sindrome di Wolfram Italia), to spread informations and find other patients like me, because I didn’t want to believe I was the only one; indeed, I’ve been contacted by other patients and by their familiars, that told me their stories and allowed me to learn how the syndrome is different for everyone. Thanks to the mother of another patient we were able to contact another doctor, Dr. Canelli, from Bellaria hospital in Bologna. With time I have learnt how difficult it is to find good doctors, but moreover humans that do no treat you just like a case, a number, and so I would like to thank Dr. D’Anninzio, the team from San Raffaele hospital, my diabetologist (Dr. Romano), and overall Dr. Fumihiko. He and his team are working on a drug that will slow down the disease, in order to gain time to create another one that, we hope, will stop it completely.

Anna

Anna’s desease starts when she’s ten, with a drastic worsening of her sight that not even the oculistc, despite all the visits, could explain. One of the many oculists who have visited my daughter thought it could be caused by Leber Syndrome, but, after three days of visits at the hospital, nothing came out; however, the doctor found out an anomaly with the level of glycemia in her blood, and suggested us to visit an endocrinologist to make sure Anna didn’t have diabetes (my husband, my mother and my mother-in-law suffer from it, and it can be hereditary).
We went to a pediatric center and, after some controls in endocrinology and thanks to a specific diet diabetes seemed to be under control, but, despite that, her sight kept getting worse. One of the doctors told us that the cause could be associated to a desease, and that we had to do a genetic exam and send it to Gasini hospital in Genoa; the whole family did the test and when the results came back we finally found out about Wolfram Syndrome. We stared looking for informations on this desease and on the connected problematics, how to behave with Anna and how to face all the difficulties that this situation implies. However, the desease keeps getting worse; Anna has become introvert, she doesn’t like to go out, she doesn’t have any friends besides me and her sister. Lately she has started to have troubles with her hands, she can’t keep them in the water for too long, and she is hypersensitive to temperature changes. We live with this syndrome everyday, hoping that a solution will soon be found.

Anna’s grandmother

My mother suffers from Wolfram Syndrome, too. She found out when she was 65, after a recovery in neurology. Talking with a doctor about all the pathologies my mother suffered from, we noticed that they were very similar to Anna’s, so we decided to have her do a genetic test focused on Wolfram Syndrome, and the response was positive. The geneticist asked me if me and my husband were cousins, because this desease is very uncommon and can only be trasmected genetically. The answer was negative, but the doctor informed us that the genes can be trasmected for even 7 generations, and in the past marrying a relative was normal, in order to keep the proprieties within the family. Despite that, my mother has still been able to live a normal life, she got married,  she had two kids, and she’s been using insulin since she was 30 (now she’s 67) and her sight troubles came later than Anna’s.
The worst thing in this whole story is that, even today, when we talk to the doctors about Wolfram Syndrome most of them don’t even know what we’re talking about, or, even worst, are not interested in knowing…

By brother’s symptoms started when she was 9/10, with sight worsening and troubles in color perception. When he was 13 he was diagnosed optic atrophy and insulin-dependant type one diabetes. From when he turned 20 to the age of 38 (2012) my brother has lived indipendently, but with incontinence problems that have been more serious in the last years. In august, 2012, despite the regoular insulin and his balanced life style, he’s been suffering from loss of consciousness, caused by hypoglycemia. After the umpteenth recovery at St. Orsola hospital, Doctor Graziano Claudio diagnosed a suspect Wolfram Syndrome, and suggested us to seek for Dr. Carelli’s help, from the neurological department of Bellaria hospital in Bologna.
In 2012 Wolfram Syndrome was confirmed.
We all did the DNA test and turned out to be carriers, both me and my parents. I am a carrier of the unclassified Val709gly mutation.
Since 2013 the symptoms ha e been getting worse, and new ones showed up (prostatic hypertrophy, bilateral elbow lipomatosis, aggravated optic atrophy, brain and cerebellar atrophy, hearing loss concerning one ear). From may the 29th he’s been in a hospital because of a lung infection, due to his difficulty in swallowing and to suffocation that nowadays is still a problem. He’s now living with this desease, he’s able to breath thanks to a tracheotomy and to eat thanks to peg, that allows him to eat directly with his stomach. We wanted to share our brother’s experience so that it can help identifying similarities with other patient’s symptoms, hoping that a definitive solution will soon be found.
Thanks to Federica for letting me know her and the disease, towards her facebook page, thanks to dr. Fumihiko and to all the other patients and relatives. We have understood we are not alone.

We found the syndrome on my brother at the age of 30, who had diabetes, deafness and blindness. By doing genetic analysis it was found that my parents, my sister and I are healthy carriers.
Later the syndrome was also found in Mark and shortly after in his brother Ivan, but with milder symptoms. With other investigations we have found that two of my nephews are also carriers, as well as four brothers of my father and some of my cousins.
Marco died in 2017.

At two years, diabetes mellitus was confirmed following bilateral optic atrophy and then hypoacusis. At ten years diagnosed syndrome with genetic examination. My husband and I are healthy carriers …

At four years one-type diabetes a few months ago bilateral optic atrophy occurred then hypoacusia made genetic analysis encountered wolfram syndrome. my husband and I are healthy carriers and they told me that Mario has wolfram syndrome precisely because my husband and I are healthy carriers

My sister Novella was diagnosed with diabetes mellitus at the age of 2 years. At 8 she started losing her sight and diagnosed her with Wolfram syndrome (optic nerve pallor). They did not do any analysis to our parents because we were in 1988 and perhaps they were not yet attentive to research. In the adolescent phase she was anorexic and started losing her balance. At 25-26 he lost his sight completely and had a reduction in his sense of smell and taste. The urinary problems, of osteoporosis and of fatigue in walking have also arisen (tends to sag forward). Despite everything, he has always had a very active and eventful life. In recent years he has shown short memory problems, fecal incontinence, swallowing, nocturnal apneas and mild hypacusia.
There would then be other questions related to behavior. I would just like to point out that Novella has been followed by the Gaslini of Genoa (Dr. Dannunzio) for 5 years, which has made the genetic analysis to us 3 other sisters (my parents are no longer there) and we were negative and not carriers.
Currently Novella is 38 years old and has an enviable vital force.

At Eleonora, my daughter, they diagnosed diabetes at the age of 7. At the age of nine, they diagnosed her with Wolfram Syndrome. Currently, at the age of 20, Eleonora is visually impaired, despite all frequent university and leads a normal life with her moments yes / no. The diagnosis was diagnostic to Gaslini and after having been confirmed the withdrawal was also made to us parents, sent to Gaslini, confirming that we are healthy carriers both.

I am 42 years old, and I discovered I had the syndrome in 2014.
I have diabetes insipidus from the age of 11 and from 2017 I bring the pump. I have bilateral optic atrophy and bladder atony, for which I have to do 4 self-catheterizations a day and for which a sacral neuromodulator has been implanted.

Hello, my name is Sara and I am 39 years old, I also have Wolfram’s syndrome. It all started at about 11 years of age with a gradual decline in vision and the discovery of having diabetes type 1 diabetes ( insulin-dependent), I state that since I was a child I always drank a lot of water as I always felt dizzy and need to drink continuously (the symptoms of diabetes insipid) .In the meantime my life continued despite these problems and I graduated from school ( not without difficulty ‘given the visual impairment ..). In 1996 I performed the first genetic test and from that I came to the conclusion that I had the Wolfram syndrome. Needless to say, the world collapsed there a little bit. on me, even though I have always tried to disguise my problems both with friends and relatives trying to make a “normal teenage life” and hiding the fact that I was insulin and that I did not see much (it was not at all easy). In 2002 I met my future husband and finally with him I could open and trust, and I found the courage to say to the other of my problems too. Unfortunately from then on I also suffered bladder problems caused mainly by the fact that I drank a lot for so many years and the bladder unfortunately he suffered from it; I had a blockage in the bladder in 2004 (I could no longer urinate alone as a result I also risked kidney problems), so I did the test for diabetes insipidus (positive result), in a few words my body did not hold liquids due to the lack of the antidiuretic hormone (which therefore regulates the normal diuresis of the body), as a result I was always dehydrated and I had a constant need to drink (I even used to drink 10 liters of water a day !!). finally they prescribed tablets containing this hormone and since then I do not need to take any more liquids, needless to say how happy and relieved I was not to have to drink so much and not feel more dehydrated eat a pizza without having to “drown” in the drinks “!!) Unfortunately, however, the bladder was compromised and quite dilated, so for a few years I had to wear a fixed catheter in order to return the bladder to a small size It was a very bad period for me, as the catheter was bad and caused frequent urinary infections, as a result I entered a period of severe depression and had to prescribe anti-depressants and anxiolytics to be able to sleep (which I still take today), then after a few years I was able to remove the fixed catheter but after a few weeks I had to put it back because I risked further blockages to the bladder, so after many tests I realized that I had neurological problems also in the bladder and that I had to choose between the fixed catheter for life or find the courage to do the autocaterism and thus have a life as “normal” as possible, I also tried with the grafting (at Molinette hospital in Turin) of a sacral neuromodulator to unblock the bladder but unfortunately it did not work and after about three months they had to remove it. So I took courage and after a period of about a year in which my husband was self-catheterism, I made numerous attempts and finally I was able to do it alone (it was not easy because the visual deficiency that in the meantime has worsened to almost a tenth of an eye view created me difficulties “obvious “). Today I went to the Bellaria hospital in Bologna where they do research on the syndrome … I hope with all my heart that the collaboration between the various medical associations around the world will soon lead to some cure or at least that you can slow down the neurodegeneration of this disease still so rare and little known; I sincerely thank the Gentian association because it has also given me the opportunity to open up with all those who will read my story and “lighten up a little the burden of this syndrome that we are carrying.