Bladder Exstrophy is a rare congenital disorder characterized by a variety of anomalies of the lower abdominal wall, bladder, anterior bony pelvis, and external genitalia.
My daughter was just diagnosed with epispadias at 21 months. Would you be willing to discuss your experience over email or the phone? If so, please email me at email@example.com, and we can then exchange phone numbers through email if you are willing.
Hello, I have to write regarding our son's experience and how choosing the wrong doctor has led to 4 additional surgeries (and we haven't even reached bladder neck) and unimagineable stress for our 4-year old. When our son was born in October, 2004, we were shocked and unprepared to find that he had a birth defect of any kind, much less one in such an important area. As a parent of a child with the same issue, you can relate to what I am saying. The issue was greatly downplayed by the hospital and we had no idea of the severity of the issue. The diagnosis given to us was 'epispadias' and we immediately began researching the condition and the doctor we were referred to (removed by moderator) is well-published on epispadias and came highly recommended by everyone at the hospital. We felt that we were in good hands and never thought to question how many epispadias surgeries he had previously performed. He used the 'Mitchell technique', taking our son from an epispadias to a hypospadias, and then performing a second surgery to take him from hypospadias to 'normal'. However, the surgery failed and he returned to hypospadias. (Most likely because he was sent home within an hour of waking up without any restrictions, but we also found out later that his urethra was blocked halfway so it may have been from that.) When we returned for our follow-up and showed (removed by moderator) that he was still urinating from the base of his penis, he said "No big deal, we'll just put a piece of skin there when we do his bladder". I'm not a doctor, but this didn't make much sense to me. If the urine ran through a tube and wasn't going all the way through, how was slapping a piece of skin there going to make it do so?? From birth we were told that my son's bladder would be fixed between 4-5 years old, when he absolutely, positively had an interest in potty training. Suddenly, just shy of 3 years old, a cysto was performed and they wanted to operate within 3 weeks and said 'we may not be able to fix it'. Words we had never heard before. Also, by some miracle, my son's bladder was on the inside so we had heard of bladder exstrophy while researching epispadias, it had never been used in his diagnosis. The 3-weeks didn't make much sense to me either since he had zero interest in potty training. If he absolutely had to have an interest in potty-training to do the surgery when it was the size they were hoping for, wouldn't it be even more important for him to be interested when it was extremely small, not less important? Due to the inconsistent information, we began to question (removed by moderator) on exactly how many of these bladder surgeries he had performed and what his success rate was. He would not give us a straight answer and started spouting of 'worldwide success rates'. After questioning him on his personal experience 3 times without a straight answer, we returned to the internet in search of another physician. This led us to Dr. John Gearhart at Johns Hopkins in Baltimore, MD. Four surgeries later (to fix the mess created), we are so grateful to have found him. Regardless of where you live, this is the surgeon you want to perform any exstrophy/epispadias surgeries on your child. (Oh yes, imagine our surprise to find out that our son had bladder exstrophy when we had been visiting doctors for over 3 years.) During our 18 months at Hopkins, we have met multiple families with children that have exstrophy/epispadias complex. The ones who are fortunate enough to have begun this journey with Dr. Gearhart have had minimal surgeries and huge success rates. The ones we have met that began their journey with other doctors, with greatly reduced exposure to this, have experienced less success, more surgeries and more complications. Please do not trust your child to anyone other than the urological department at Johns Hopkins. While we cannot turn back time and erase the start of our sons life, we can certainly rest easier knowing that he is now in the best hands and his a much higher chance of continence. Also, at Hopkins, they offer a clinic to work with your child to achieve a successful outcome (not available in smaller hospitals) as well as an annual Exstrophy picnic to put you and your child in touch with others dealing with the same experience. There is no distance too great to travel for the expertise you will receive at JHH.
|Association for the Bladder Exstrophy Community||
The ABC is an international support network of individuals with bladder exstrophy (includes classic exstrophy, cloacal exstrophy, and epispadias), local parent-exstrophy support groups, and health care providers working with patients and families living with bladder exstrophy.
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
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After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
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Created by kskelly | Last updated 9 Nov 2014, 08:02 AM
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