After she was born they took her out of the room, and when they came back I just kind of knew something was wrong, even though they had wrapped her up. I thought at first it was just a perforated anus. But that day she was rushed to Children’s Hospital. I got to see her just for a very short time, not even an hour – they took her right to Children’s to see the surgeon. He was flying in from California. Anyway, these are all details, but basically he called me, and he said, “Mrs. Wright, don’t worry, she just seems to be a straight cloaca.” And I remember thinking, “Okay, what does that mean?!” So it was shocking, because we didn’t know – it was all so foreign. That night that John went out and bought our surgeon’s book. It was all about babies, cloacal anomaly babies, and children that he had operated on. And he was the best of the best, and I had this sense that she would be okay. I just always had that.
Mother of Elizabeth, age 16
In good hands
He had a urodynamics test to measure the bladder, so that was kind of scary – they fill him up and then wait to see where he’ll pee. We felt bad for him on that, because you could tell his bladder was getting so full it was kind of painful. So it was all pretty scary, but we knew he was in good hands.
Mother of Patrick, age 2
Thrown for a loop
They sent us to the doctor and he laughed it off at first – he thought it was just a blockage in his urethra. He said, “This happens all the time. We take him in for a procedure, and he’ll come back out, he’ll be fine.” He honestly 99% believed that it was a blockage. So that conversation when he sat us down afterward was probably the worst conversation because we were thrown for a loop, you know? We didn’t know what was going on. And he really didn’t either, because Jared was so unusual. Everything else seemed to work on him, except he wasn’t streaming – there was something wrong. The doctor told us, “Something is not functioning but we don’t know what.”
He was very clueless in the sense that Jared was a very unusual case, and that’s how we started with Boston, because our doctor knew a urologist here and thought that it might be beneficial for us to go out there and be tested with the urodynamics and all his machinery. So I remember it was the worst storm ever, freezing cold, and we found out six hours before – not even – that we were going to go to Boston for the next-day appointment. And we jumped in the car and took off and here we were! And we went through the whole urodynamics testing, because at this time the only thing that our doctor can suggest to us is that we do the vesicostomy.
Mother of Jared, age 6
The first time they take your baby away
I think the worst thing is the first time that they take your baby away – I mean, he was less than six months! They roll him away, bring that Cookie Monster with him so at least you know he’s got a little comfort, a stuffed animal that always goes with him. But watching that was probably the worst thing. You don’t know what’s wrong with him and they’re wheeling him off to put him under anesthesia to find out what’s wrong.
Mother of Jared, age 6
They didn’t really see the growth they were hoping for
He was just an infant, so they were happy with the results of the surgery* but they couldn’t tell about continence for a few years. It was wait and see. They wanted to see if he would be able to squirt, like when you were changing his diaper – if there was a steady stream and things like that. Every once in a while it would happen, but more so they were monitoring the growth of the bladder, and after a while, they didn’t really see the growth they were hoping for.
He had urodynamics and ultrasound every six months. Maybe not both every six months: urodynamics once a year and ultrasound like every six months. He was fine with it. He tolerates things pretty easily, you know, considering!
Mother of Eric, age 8
* Editor’s note: Eric had reconstructive surgery to repair bladder exstrophy.
Mother of Amalia, age 9
It wasn’t that either
As we get ready to make an appointment Manny had gotten violently ill: high fever, slumped over, headaches, really bad headaches. We came in here and they said they actually thought he was having something to do with his gallbladder or his appendix. It was neither!
They did an ultrasound and came back and asked me “Did he ever get hurt?” because everything was expanded. His kidneys were very huge, ureters, everything, all the piping. The bladder was stretched, everything. And then they thought maybe somebody had stuck something in his urethra. They noticed it was small so they figured it was that – that’s the problem, it’s just too small. It wasn’t that either. But our new doctor found out everything.
Mother of Manny, age 10
We couldn’t find a reason
Over the last two years, we’d go to the urologist and I’d say, “But he’s really uncomfortable!” but we couldn’t find a reason. And then the last time before the surgery, Robert finally was talking to doctors. Before that he wouldn’t talk to the doctors, so they’d ask questions but he wouldn’t answer. I would have to answer what I could come up with, what I knew from what he had told me. He looked at the doctor and said, “When I go to the bathroom, I have to push too hard. It gives me a headache, and it hurts when I go.” She said, “Okay, well, now we have a reason for the discomfort!”
He had so much residual – he sometimes would have 700 or 800 cc’s residual after he urinated. So we went to Boston, they did a big work-up and decided that the bladder just wasn’t emptying the way it should…they said there was very little contraction, because of the mitochondrial disorder, which affects all your muscles. They said, “It’s just not working.”
Mother of Robert, age 16
It took us until he was nine to actually get an answer
He has mitochondrial disorder, which affects every cell in his body, affects all the different organs. He started out early on with abdominal problems: he would have chronic obstruction, so we ended up taking out his large bowel in about four different operations, and he ended up with an ileostomy. Then it affected cardiac, and now it’s affected urinary. Right now the problem is that whenever he tries to urinate, because his bladder has gotten so distended over the years he has to really strain. It ends up causing a headache and he has a lot of pain when he urinates.
We knew he had problems when he was born, but we didn’t know what it was. He had a lot of psychological issues, he was a very sad little boy. He was very aggressive and angry and we didn’t really know why. By the time he was three we started with hospitalizations for bowel obstruction. That just kind of grew and grew, so we started looking for more answers – because you could do surgery, but you don’t really have an answer. So it took us until he was nine to actually get an answer. We went to Georgia to see a metabolic specialist with mitochondrial disorder. He did a deep muscle biopsy and found that it was definitely mitochondrial disorder. So it gave us an answer at least, so we had an idea of what we were looking at, but you still have to deal with the problems, and we knew that that wasn’t going to get better.
Mother of Robert, age 16
Maybe they can learn from that
They weren’t really sure what was causing the retention. They thought that what we’d do first is have her use a catheter at home, and that they would try to figure out what was causing it after, but their main purpose was to drain the bladder because her bladder wasn’t emptying on its own.
Later we found she had a cyst on her ovary, and we’re thinking that might have been the cause – that it was blocking the bladder or something. But we’ll find out more today…
They never did an ultrasound when she first came to clinic. I had three doctors ask me when we here for the ovarian cyst removal, but they never did an ultrasound, they just tested how much urine was in the bladder. I think they were sort of on a mission to just get the urine out. I’m going to mention that while we’re in clinic, so maybe they can learn from that. It could’ve maybe been cleared up a few months ago.
Mother of Gabriella, age 12
You want an early diagnosis
You want an early diagnosis with PUV because if you don’t, then that’s when the kidneys get damaged and everything else. So usually they catch it in utero. Usually they catch it when they are one or two. Manny was different – I guess his doctors said he was loose, so he just peed around it.
The one I hold responsible is my gynecologist. She’s the one that should have caught it! I had ultrasounds. The ones here at Children’s Hospital are the ones that are fixing him! And also, you want to check: they always told me he had pot belly as a baby – he had a big belly and they called it pot belly. Just check with that, if a child has a big belly, that’s what I would do.
Mother of Manny, age 10
Much smoother
Our first appointment was to get a test where they filled her bladder with water and dye and watched to see how her body eliminated the fluid. We went to a local hospital. It was a horrible experience because a resident doctor performed the test and took three tries to get the catheter in. Kristin was hysterical and I was in tears. Once it was done, the results were sent to Children’s for the urologist to review. While waiting for the test results, the pediatrician put Kristin on a low dose of antibiotics to prevent any further urinary tract infections. When the urologist from Children’s contacted me with the results, he ordered a further catheterization-type test because he noticed a very minute section of kidney damage. This test went much smoother. The nurses and doctors were wonderful in handling Kristin, providing her with a Dora movie to watch, giving her a balloon, etc.
Mother of Kristin, age 4
We truly only tried using the CIC for about a week. We ended up stopping it and focused on potty training. I thought that way she’d be more comfortable using the bathroom eventually, and she was getting older.
Mother of Kristin, age 4
Two separate things
I kept going back to the doctor and saying, “No, she still has an infection,” and they’re like, “Oh no, her sample is clean!” And I’m going, “Test it, test it, send it to the lab, look deeper, that’s not a clean sample!” And at the same time her Asperger’s and ADHD symptoms were really starting to bloom, so I think we were getting a lot of confusion with behavior as opposed to diagnosis and luckily I know the difference because I actually have both. I’m ADHD but I knew that the bladder was not behavior – she wasn’t peeing when she was mad. It was two separate things.
Mother of Meghan, age 8
They didn’t know what else to do
We went to a local hospital, and she was with a urodynamic clinic there, with a nurse for all those years. I mean, she hardly saw the urologist, they didn’t do a lot of testing, and they would push all these laxatives. They said that Naomi’s problem was she didn’t relax the sphincter, so there was all this exercise and laxatives all the time. That’s how they treated her until this nurse practitioner had a baby and nobody would cover her, so we needed to see the urologist. Then I pushed and they did urodynamics, and if not, they wouldn’t have done anything. And so they did it and found she was so abnormal. And I keep pushing, I want to find out why she was having this: “You know, I’ve been here for four years!” And they said they didn’t know what else to do, and they referred me to Children’s.
Mother of Naomi, age 10
Where else do I go?
We knew it was going to be a bad day, because she had an aversion to being touched especially in a medical atmosphere, and we needed to do an ultrasound and the emptying test, the urodynamics. So I’m trying to talk her through it. I told the nurses, “Just trust me. I’m going to hold her down, you’re going to do the test, that’s the only way it’s going to work.” And so we went through both of those and it took about an hour to do the ultrasound and it took about an hour and a half to do the urodynamics, the uroflow test, and so now we’ve already been here for four hours. We go to see the doctor and the doctor is asking me questions and she’s on the floor crying, and I’m telling him about my history and he’s shaking his head, saying, “Obviously this is behavior.” We’re sitting here at Children’s Hospital and I’m like “Oh my God, I’m at Children’s Hospital and where else do I go? What else do I do?” … The first thing the urologist said to me was, “Did you have any history of bladder infections?” And I was like “Yes! This is completely exactly like my history.” I said, “I’m an insulin-dependent diabetic,” and the first thing he did was look at her spine. Nobody had ever looked at her spine! Including the other doctor at Children’s. I was like “Okay, you know what you’re talking about.” Now we’re talking! He diagnosed her right then, she was three-and-a-half at the time, with a spastic bladder. That’s what was going on.
Mother of Meghan, age 8
She had tethered cord again
It wasn’t the bladder that was a problem – it was the back pain. She started to complain of back pain in the fall. Actually it was a coincidence: she did rock climbing at school at the Fall Fair, then she did horseback riding that day, and we thought, “The pain is something sore after that day.” Then the pain didn’t stop for a few weeks. We talked to primary care, and they said to wait for some time…so we waited one week and then we went to see primary care again. The doctor did an X-ray but thought it was just sore muscle due to that rock climbing…and then accidentally they detected scoliosis. They told us it was nothing to worry about, but then she still wanted us to see the orthopedic surgeon. Before that I went to talk to the neurosurgeon because of her condition, and he said, “Yeah, I mean, if she’s in pain and there’s scoliosis, then we should see her.” He saw her and then we did another MRI and found she had tethered cord again. We had to see the neurosurgeon again and then he recommended urodynamic study…In the urodynamic study, they found that she couldn’t relax her bladder muscles after urinating…because that result was different from the 2002 urodynamic study, they decided to operate.
Father of Jaya, age 8
That way it’s not an issue
She was having a little bit of trouble voiding as an infant, and when her bladder would get really full, I guess it would compress a little bit on some sort of blood vessel, and her left leg would turn kind of purple if the bladder was really full. So we ended up cathing her when we took her home from the hospital, and we only did that for I’d say maybe six months, and then we did some testing and basically saw that she didn’t have any post voiding residuals, and so they said we could stop that. So from six months on we weren’t cathing, until maybe she was approaching three and getting ready for preschool, and then we had run some tests and discovered at that point that she had some urethral reflux on the left side. And so we went back to the cathing to alleviate that and then we just sort of stayed with it for continence purposes after that.
The reflux eventually resolved itself. I would say by the time she was five they basically said it had resolved. She was fairly continent with the medication (she was on the Ditropan (Oxybutynin)). It was more that sometimes she would have just a little bit of leakage if her bladder was full, and rather than have her go into the school setting and be the kid who smells a little funny or whatever, we just said, “Look, we’ve been cathing for her kidneys – let’s just keep going with it, and that way it’s not an issue.”
Mother of Siobhan, age 9
Such mixed responses
We had such mixed responses when he was little. The pediatricians were the most sympathetic. Teachers thought it might be a power struggle between us and them, because I guess that is common in toilet training. But we knew that was not the case. The pediatricians started him on Ditropan (Oxybutynin) at around age four, but he had a reaction where he overheated and we backed away from the medications. Then they sent us to a local urologist. He also seemed to think that Ryan would grow out of it and that this was not a medical problem. When we went back six months later, they discovered that he had meatal stenosis and scheduled outpatient surgery to correct it. During the surgery, the doctor noticed “an abnormality” in his urethra, but decided it was not significant.
Ryan continued being wet constantly through first grade. We tried different doses of Ditropan, the Oxytrol (Oxybutynin) patch, etc. We also tried biofeedback with the Urology Department of a local teaching hospital. After first grade, I asked the doctor where the top pediatric urologists in the world were found, and he answered Boston Children’s. So we made an appointment and set out for a week of appointments in Boston. The urologist here was wonderful. He performed many tests including a urodynamic study, VCUG, KUB, and a neurological assessment. He discovered that Ryan had posterior urethral valves. We stayed a few extra days and he ablated the valves in outpatient surgery. He added Detrol (Tolterodine) to our mix of drugs and thought that his situation would improve over the course of the next year. Unfortunately, that was not the case.
Ryan has been evaluated by a couple of neurologists. He has had MRIs taken of his brain and spine, looking for Spina Bifida Occulta or a tethered spinal cord. All of the tests have been considered normal. And he has no other neurological symptoms. However, right now they are calling his condition “neurogenic bladder” and thinking that it is somehow a problem with the nerves controlling his bladder.
Mother of Ryan, age 11
We finally had an explanation
My brother is 10 years old and is crazy into basketball. Often I think about him playing basketball as if there is nothing else in life to do. He is has a kind of spunky type of attitude and we all feel like he is incapable of feeling pain. Many times he gets hurt in ways that I feel like are “scream-causing,” yet he simply smiles and it doesn’t bother him.
Ryan and I will often go outside and play football or, yes, basketball, with the other kids from the neighborhood. I like the fact that nothing seems capable of hurting him or ruining his day. Often he will agitate me by singing in loud crazy ways and so we do get upset at each other semi-regularly.
When I found out he had bladder problems I think that I was just in shock. We had all just thought that he just wasn’t trying to stay dry and that soon he would try. When we found out, personally, I thought that we finally had an explanation as to why he seemed incapable. It made me happy to know that we had found the problem
Brother of Ryan, age 11
It’s re-tethered
I scheduled visits with a urologist here in New York, but I think the first thing I should have done was come straight back up to Boston Children’s – because the urologist did not really have a good understanding of tethered cord, and I think she diagnosed him with an overactive bladder but wanted to put him on a medicine that would help that. And you can’t do that because it’s not caused by the normal reasons that kids have an overactive bladder: it was all nerves. It was the nerves, and pills are not going to change that. So I was getting very concerned. I said, “I want him to get another MRI, it’s time for him to have an MRI.” We had scans done and I went to a wonderful neurologist in the city who read the scans and said, “You know, I don’t really see anything, but it’s really hard to tell with a post-surgical scan because there’s lots of scar tissue and sometimes it’s hard to figure things out.” And I said, “I hope you don’t mind but I’m going to send these up to Boston Children’s too.” So I sent them to the neurosurgeon there and I made an appointment to come up and sure enough, our doctor looks at the scans and the way he reads them, he said, “It’s re-tethered.”
So here I am and I’m feeling incredibly upset. I thought, “Well, I should have known earlier, why did I wait so long?” You let things go when you see subtle changes and you think, “It’s going to pass, it’s going to pass.” And then part of me was saying “Oh wow, gold star, you realized something was wrong and you did something…at least I was proactive enough to figure this out and we didn’t wait any longer.”
Mother of Henry, age 12
They thought I wasn’t giving him an adequate diet
When he was a week old he had a urinary tract infection, and at that time they found he had E. coli in his urine, and then they did a VCUG. At that time, they found that his urine was refluxing to his right kidney. At that point they requested a bunch of other tests – they did an L spine series test, they did another VCUG, they did some other blood work. I don’t remember everything that they did, but I do know that’s what they concluded, that he had reflux, which apparently was just a side effect.
The next few months he progressed to have a lot of urinary infections. They had him on a daily low dose of antibiotics for a brief while and he still was getting infections. He also began to get really constipated and having bouts of diarrhea and really bad constipation. He was in the hospital with either severe constipation or a fever or a urinary infection – that would happen once a month to once every six to eight weeks. At that point they just thought I wasn’t giving him an adequate diet. They didn’t think that anything was wrong with him, although he had gotten to a point with the antibiotics that when he was symptomatic he was only responding to one kind.
At that point we were in the process of moving from the West Coast to the East Coast, and he was going to start seeing a doctor here. His father was in the military, so we hand-carried the medical records. I dropped them off over in Boston, and he didn’t have his appointment for over a week. The doctor reviewed his X-rays, reviewed his files, and had a conclusion as to what Ethan’s diagnosis was, but couldn’t actually diagnose him until he saw him. He was able to see from the X-rays that we had brought from the West Coast that he was in fact missing his tailbone and the two vertebrae that follow… I’m the type of person who understands people can make mistakes, it happens all the time, but how do you not catch missing a large bone like a tailbone when he had X-rays that should have shown it?
Mother of Ethan, age 13
Mother of Ethan, age 13
There was no name
Her neurosurgeon did an MRI on her when she was about two weeks old. He suggested that she would need a spinal fusion and that we should do it at, like, nine months. And I was like, “What is this?” and there was no name, because they had varying names for it – some of them called it hemivertebrae, some called it different things.
We ended up asking for a second opinion, and that neurosurgeon sent us to another doctor, and he was the lifesaver for us. First of all, my concern was that Kayla needed to be in a pediatric hospital to have this kind of surgery, and at the time we didn’t have a pediatric center nearby. The new doctor agreed…he said that she should be in the hands of somebody who is very used to doing the pediatric spine. It just so happened that he worked with an orthopedic guy who had been a fellow in Boston, and he knew the neurosurgeon, so he recommended that we go there as long as we were willing to travel. That’s how we ended up there in Boston…
Mother of Kayla, age 14
A little science behind my leap of faith
I always tell people that the hardest part of that whole process was when we didn’t know what exactly they were calling it in terms of an anomaly or how to treat it. Because nobody was really quite sure what do to about it until we got to Boston Children’s, and then we were pretty much in good shape.
But I remember our local doctor said, “At some point you’re going to have to make a leap of faith.” I remember that being my hardest day, because I thought, “You know, I’m all for making a leap of faith, but I’m a nurse, and I’d like a little science to be behind the leap that I make.” Then once we got hooked up with the doctors in Boston, things were really okay, because we knew that we had her in the best place that there was supposed to be. I really felt like this was the best thing we could do for her…and that was my big concern, that we find the right doctors to take of her. Whatever would be would be, but at least we felt that we did what our responsibility was to do.
Mother of Kayla, age 14
I never dreamed his organs were failing him
It was traumatic, absolutely. That whole year was we had no idea what was wrong with him. I think he was anxious. I think he tried to pretend he was fine but he was worried because he was vomiting every morning. I was worried, but that whole year I never dreamed that it was something that truly was a chronic illness. I never dreamed that it was his organs that were failing him, never. I just thought, “We’ll find it, we’ll figure out why he is doing this.” … They did all sorts of tests, blood work, and ultrasound, they tested him for reflux with a VCUG, everything imaginable – he was here for a week. At first they thought that it was an obstruction that was causing the kidneys to fail but it wasn’t. So we actually left here not being 100% sure what was wrong with him or what was the underlying cause. He was feeling better but we didn’t know the underlying cause of the kidney problems.
Now that we think back, he was feeling better in the hospital because he was getting up and urinating at night and that was more under control. We weren’t really sure what was causing him to still feel nauseous. They weren’t sure, nobody was sure. When we went home we didn’t understand he had to urinate every so often because nothing was diagnosed that way. So we went home and he was still sick.
Mother of Dylan, age 16
We didn’t feel as helpless
He started seeing the urologist as an outpatient. He had another ultrasound, and the doctor diagnosed him as having the non-neurogenic bladder – so it doesn’t function and it doesn’t empty. He figured out that that’s why he was feeling sick, because urine was backing up into his kidneys and his creatinine was out of control and that was what was making him nauseous.
It was a relief to find out that it was something we could possibly control. We didn’t feel as helpless. It was worse not knowing what it was and having him sick every day and not having any answers at all.
Mother of Dylan, age 16
So much residual
They did a bladder scan first. She had to drink so many ounces of water, then they did the bladder scan, then she urinated into that specialized toilet, that neat toilet, and then they did the bladder scan again to see how much she had as residual. And the residual was quite as much as she urinated. And I mean, when we did the uroflow and I saw that there was so much residual, in the back of my head, I knew that this is what she was going to have to do so that we could get that bladder back into more of a tone.
Mother of Alexa, age 16