Back to School and A New Pediatric Specialist

We have had a chaotic spring, with the boys' surgeries that took up our lives from late February through mid April. I am so grateful that everyone has recovered! Nolan went back to school today, and was happy to have his routine back.

I recently had a friend tell me about a pediatric specialist in our (relatively) local area who takes on difficult cases. My friend's children are also complex, and this specialist is keen on finding an accurate, global diagnosis for her kids. I am in the process of trying to get an appointment for Nolan, as he needs someone to review his entire case and look at the boy as a whole. Currently, his diagnoses are (organized by system):

ENT:

Chronic sinus infections
Chronic ear infections (5 sets of tympanostomy tubes)
Progressive, mixed hearing loss (currently moderately-severe to severe). Hearing aids.
Laryngomalacia
Obstructive and central sleep apnea - C-Pap user
Glossoptosis

GI:

Severe reflux/Nissen fundoplication with g-tube placement
Gastroparesis
Failure to thrive (supplemental feeds for ~ 800 calories/day)
Chronic diarrhea
Periodic vomiting attacks

Vision:

Astigmatism (both eyes)
Myopia (right eye)
Amblyopia (right eye) - treated with glasses

Urology:

Posterior urethral valves

Cardiology:

Innocent heart murmur in the mitral valve area (echo normal, sounds of regurgitation from mitral valve)

Other:

Hyperflexible joints
Mild hypotonia, primarily in the hands and arms
Fatigue with walking
Unexplained leg pain (severe & periodic)

In any case, I'd be glad to have his entire case reviewed, just to make sure someone hasn't missed something obvious along the way. In addition, I want to make sure that we're treating Nolan appropriately - I don't want to do any more surgeries until we're positive it is the right treatment for his system as a whole.

The pediatric specialist has two "sides" to her practice - a general pediatrics side and a rheumatology side. I am currently waiting to hear back from the office to see which "side" Nolan will be booked under - with the hyperflexibility and leg pain, they may book us under rheumatology rather than general pediatrics.

I just hope they can help us find some answers.

Update From Our Cleveland Clinic Trip: Genetics

We are back from the Cleveland Clinic - an absolutely amazing medical center. Nolan was amazed by the fountains and the landscaping everywhere - there's a reason they call this place "Medical Disneyland." The top-notch doctors make this place truly wonderful.

We saw the geneticist and the genetic counselor, who looked at Nolan's (extensive) medical history and at Nolan himself. I will say up front: there is no "Eureka! We found it!" moment coming up here - so this will be a long post detailing the general thoughts and impressions from the team at the Clinic.

First off, Nolan is definitely medically complex. There are a lot of things going on, obviously, and some things can be considered "birth defects" (the posterior urethral valves and the hearing loss) and some can be considered progressive (the acid reflux with increasing intensity, the laryngomalacia, the hearing loss, the vision). Some things are entirely new to us. Both the geneticist and the pediatric resident heard a distinctive heart murmur.

Nolan's echocardiogram a year ago was declared "normal." No one has ever detected a murmur before. It is likely he has developed a new issue, but the geneticist is requesting his echocardiogram from last year to confirm that this is a new development. If it is a murmur, the location of the murmur suggests that it is a mitral valve prolapse. This is generally a fairly benign murmur that doesn't need surgical correction, but it will need monitoring. We'll see where this one goes.

Hanging out in genetics

The geneticist went over Nolan's issues. Some "separate" issues are really linked together, because one issue causes the other. The truly separate issues are:

1. Hearing Loss

2. Myopia, Astigmatism, and Anisometropic Amblyopia (vision)

3. Severe reflux -Laryngomalacia - Obstructive Sleep Apnea - Chronic ear infections/upper respiratory infections

4. Posterior Urethral Valves

5. Heart Murmur, probably mitral valve prolapse (new)

6. Hyperextensible joints with mild hypotonia

Obviously, this many issues isn't exactly coincidence. On the other hand, there is no comprehensive diagnosis that fits his issues. The geneticist did feel that he should have a genetic microarray done, to rule out minor chromosomal deletions and additions that can cause issues for some kids.

She did warn us that the test will probably come back as "normal," however, because the majority of chromosomal rearrangements and deletions cause cognitive and developmental issues. Nolan has no cognitive issues, which makes a chromosomal problem less likely. We do need to run the test, though, because other things cannot be considered until this test is done and his chromosomes have been checked out.

The microarray was drawn this afternoon and we should have the results in about 2 weeks.

She did say that Nolan was doing well developmentally, so while he is medically complex, he is also very "normal." Which is wonderful to hear... though we do wish there was a way to treat the medical problems he does have (and stop new ones from cropping up)! Essentially, we will have to monitor him on an annual basis and see if new issues keep cropping up.

Heading out: happy to get to the car!

As for the reflux, we have no idea why it continues to increase in severity. We asked her opinion on the fundoplication, and there really isn't a right or wrong answer. If his lungs are definitely affected, we should do it. If it is just the apnea, we should probably stick with C-Pap and try to make it work. If he starts having difficulty maintaining weight, we should do it. Since he has re-gained his weight back to 32.4 pounds (woot!), we might consider holding off.

She did tell us to consider the following very carefully: with Nolan's history, we should be prepared for a fundoplication to completely fail in its goal to eliminate apnea. While it may work, there is no guarantee that it will be successful in controlling the apnea. We could very well do a fundoplication, and then still need to use a C-Pap for Nolan. And we will always have to use anti-reflux meds for him. So really, if the reflux starts attacking his lungs, voice, or ability to grow... we should do the fundoplication. If the reflux is just causing the apnea, we would be better off controlling that with the C-Pap. It will be an ever-evolving judgment call: with progressively worse reflux, our decision to hold off on the fundoplication may have to be reversed as new complications arise.

She also said that his fatigue and stomach pain is an inescapable component of his condition. He has apnea - he is going to be tired until it is well controlled. Controlling apnea with severe reflux is difficult, so he will likely struggle with fatigue. While a little depressing, it is realistic: he has a chronic condition that we will have to cope with, because it is unlikely that it can be "fixed."

His stomach pain comes with the acid-reflux territory. His gut doesn't work right, and he's going to hurt a lot. Again, he will have to develop coping mechanisms for this, and we'll have to try to keep on top of the anti-reflux meds as we have always done. A fundoplication will not fix the mysterious stomach pain (which is likely due to delayed gastric emptying).

Her input was valuable. For now, we will probably hold off on the fundoplication and work harder to make the C-Pap work for Nolan. But our decision may change, based on what the reflux does to his little body.

As for now, we just wait for 2 more weeks to see what the microarray shows.

The Cleveland Clinic: A Cut Above

I was a little worried when I noticed that only about a quarter of Nolan's medical records had been faxed to the Cleveland Clinic. Knowing that we only get one shot at this, I was concerned that the partial records would make for an useless appointment.

I sent in medical records request letters to our ENT, Pediatric Ophthalmologist, and GI doctor, so that some of the missing records would find their way to the Clinic.

Yesterday, the phone rang. It was the genetic counselor at Cleveland Clinic - she noticed that some of the records were missing from the pediatrician's office.

"There is a record mentioning an echocardiogram, but there is no echo. There is a record mentioning an MRI scan, but there is no MRI scan."

"Are there any endoscopy biopsy results? Labwork? Ophthalmology reports?"

"No. There is no mention at all of his vision problems."

"OK, I'll get on that."

There were 54 pages sent, probably about 1/4 of Nolan's medical records. I'm working on getting the rest sent directly from the specialists. The records sent to the Clinic were missing his genetic testing work from 2008 (just Connexin 26, Connexin 30, and mito A1555G, which were all negative for mutations). The records were missing all mention of vision issues, reflux test results, biopsy results, labwork, etc.

The rest of the records should slowly start filtering in to the Clinic this week. I will fax the rest of the missing records (early ABR hearing tests, genetic test results, etc) tomorrow.

I am SO impressed that the Clinic noticed the missing records and called me about them. I honestly don't think anyone has ever sat down and reviewed all of Nolan's medical records before.

We may never have a comprehensive diagnosis, but I am impressed with the attention to detail and the professionalism at the Cleveland Clinic. I feel like I can trust their judgment - they have really looked at his entire case and have seen kids like him before.

I really can't wait for our appointment next month. We may not get answers, but maybe we'll get get pointed in the right direction with our care of Nolan's most pressing medical concerns. Sometimes, getting pointed in the right direction is the most important thing.

Getting Things Ready for Cleveland Clinic

Our pediatrician has faxed off the necessary medical records to Cleveland Clinic - it is a great relief to have this done. I picked up my copy of the faxed documents, and realized several records were missing. They sent:

A letter from his GI noting adequate control of the reflux (this was sent a year ago).
A letter from his ENT showing poor control of his reflux, and showing the diagnosis of laryngomalacia.
One audiogram.
A report from Nolan's posterior urethral valve surgery.
One sleep study report.
His normal EEG findings from the staring spells a long time ago.

They are missing all the labwork (showing the slightly elevated AST levels), his endoscopy biopsy results (showing ectopic gastric mucosa and flattened villi), his MRI's and CT scans, all ophthamology reports, and all of his pH probe results. Not to mention the four sets of tubes from chronic middle ear infections, the history of being failure-to-thrive (especially since he is dropping on the charts again), and the surgical failures to control apnea (tonsillectomy and supraglottoplasty). And then there is the mixed hearing loss which is slowly progressing over time.

I made a few phone calls to specialists this morning: I called the GI to get his biopsy record, lab work results, and pH probe results faxed over. I called the ENT and the audiologist to have the same thing done. I still need to call the ophthalmologist.

I have several release forms to fill out and send back to the specialists - it takes quite a lot of work to get everything organized. I wouldn't be so worried about the whole thing, but our insurance company has approved only ONE visit with the geneticist, and won't cover any lab work or follow-up visits. Because of this, we need to have all the ducks in a row. We only get one shot at this - we need to make it count.

Hopefully all of the records will be into the Cleveland Clinic in short order.

Jumping Through Hoops and Some Technical Difficulties

Nolan is the king of pouting. Some days, he has good reason.

The insurance company responded to our pediatrician's pre-authorization letter requesting a genetics consult at the Cleveland Clinic. They said that the authorization will be denied because Nolan has already had genetic testing, and our pediatrician needs to explain why the former genetic testing was insufficient.

So we move on to round 2 of getting approval to get a second opinion.

For the record, Nolan has only had genetic testing done for Connexin 26, Connexin 30, and the mitochondrial A1555G mutation: this is part of a 3-gene "Non-Syndromic Deafness" panel that is standard for nearly all children with hearing loss. His blood was taken at Buffalo Children's and sent to Boston for testing. Nolan was negative for any mutations in those three genes.

All of the "extra" medical issues have occurred since that point in time (he was only four months old during our genetics consult at WCHOB).

Our insurance company claims that Nolan was seen at Boston Children's Hospital, constituting a second opinion. This proves my theory that the insurance company employee reviewing the request cannot read.

The genetics report by Boston Children's is just the analytical data from the blood sample sent to them by WCHOB. We have never been to Boston, we have never gotten a second opinion, and the genetic test drawn by WCHOB and sent to Boston for testing was negative. So we know he doesn't have the most common gene responsible for non-syndromic deafness. This, coupled with the onset of new symptoms (including a machine necessary to keep him breathing at night, vision problems, muscle tone issues, etc.) should be enough to warrant a second opinion from a geneticist.

Hopefully the rebuttal letter our pediatrician is penning will be sufficient to grant us access to Cleveland Clinic. We're not seeking tons of expensive testing: we're simply seeking a second opinion from a clinical geneticist who works for a hospital which has a unit specializing in genetics relating to hearing loss.

In other news, Nolan's right hearing aid died on us today. It had been giving us a low "hum" and eating batteries. We normally go through one set of batteries per week with Nolan, and we started going through a battery per day. Besides the expense of buying a bazillion Size 13 batteries, there was the more pressing concern that Nolan's hearing aid might be ready to kick the bucket. It won't turn on at all today, so he is currently sporting only one "ear" and saying, "WHAT YOU SAY?" a lot. We see his audiologist on the 5th for a repeat hearing test, anyway, so hopefully she'll be able to help us find a solution. I just hope that solution is not buying new hearing aids.

A Bit of a Break

I took the boys on a road trip to Buffalo Children's yesterday, for Nolan's annual renal ultrasound. They've always been normal in the past, so we were happy to see another set of normal, healthy kidneys. After the ultrasound, there was a bit of a wait to get into the clinic at 1:00 to discuss the results and future plan for Nolan. Killing time in a children's hospital that lacks playing areas for outpatient testing is not an easy task - I managed to sneak back into the radiology waiting room and let the boys watch TV for about an hour, then we headed to the cafeteria for lunch.

WCHOB is a great hospital for inpatient stays or for day surgery patients, but it lacks amenities for kids undergoing outpatient testing. For the longest time, they didn't even have changing tables in the restrooms (thank goodness, they seem to have gotten a clue and added a few of them). In our early days there, I would have to change Nolan on the dirty tile floor of the bathroom.

The cafeteria, for instance, only offers 0.5 liter bottles of soda and juice: there is no juice box or milk carton to be seen. There aren't really any meal choices for kids, either, outside of pizza/fried chicken strips/onion rings. I sat the kids down with their lunches (definitely not reflux friendly) and vowed to BRING our lunches next time. Nolan, of course, immediately spilled his Hawaiian Punch all over the table and himself. Neither boy ate very much, and it was difficult to kill time with a wet and sticky three year old.

We headed up to the clinic a little early, since I have experience with this system. Our appointment was at 1:00pm, and I knew that everyone had an appointment for 1:00pm. Basically, they open up the window and it is a mad dash to sign your name to the list - the child is called based on the position they hold on the sign-in sheet. We joined two other families that were long-term patients: we were all in the know with regard to the madhouse that the urology clinic can be. We heard the shutter roll up, and we made our mad dash to sign in on the sheet. I felt a *little* guilty for not informing the new parents of this crazy system, but I wasn't waiting 3 hours to get in like last year.

We were the second family called in (I could hear the other parents in the waiting room beginning to murmur "wait, your appointment is at one o'clock? So is ours!"). Dr. W. brought in a resident and explained Nolan's case - he's apparently pretty famous since posterior urethral valves are fairly rare (1/8000 births). He's also famous because we caught his valves before they did any damage: since it was an "accidental" finding, we spared his bladder and kidneys. Usually, late-presenting boys are found when they go into kidney failure.

I was hoping we'd be discharged from urology this year, but apparently Nolan will be a lifelong patient. He probably won't have the negative consequences of having PUV's, but there is no guarantee that we won't see problems emerge as he grows. Since he is doing so amazingly well, however, we don't have to come back for two full years. Yippee! I am glad to catch a break with this system.

I also talked to the urologist about Matt's situation. Matt has been on the DDAVP for about 3-4 weeks, and we haven't seen much of an improvement. For about 2-3 days, we thought we had a dry Matt during the day, but he is just as wet as ever. The urologist explained that the DDAVP is not supposed to be used for daytime wetting. Since it is taken at night, the drug is entirely out of the system by the time the child wakes in the morning (it only lasts about 8 hours). We'll finish out this week on the drug, then request an appointment with Dr. W. for Matthew to find out why he can't achieve daytime continence. Fortunately, the investigation consists of an X-Ray and an ultrasound, which are easy, non-invasive tests.

Getting Authorization

Oh my goodness: it is finally WARM outside!

I finally managed to get hold of the financial services department at Cleveland Clinic. Our insurance company won't approve a visit to their genetics department until Nolan's primary care doctor writes an authorization to the insurance company (providing all medical records). We're in the process of getting this squared away.

We haven't met our deductible yet, so we will pay out of pocket for most of the costs. Still, it would be nice to have our insurance company cover whatever exceeds our deductible. Since the Cleveland Clinic is a world-class facility, we have great confidence in their opinion. If they say that there is nothing underlying Nolan's hearing loss/severe reflux/fatigue/urology issues/apnea, then we can relax and do the fundoplication surgery.

It can take 30 days for insurance to approve the visit once our pediatrician sends in the authorization, then we will have to book an appointment. At this rate, it is likely we won't get to the Cleveland Clinic until August or September. We could just go to our local children's hospital, but we don't have the same confidence there. We've been told that two separate surgeries would correct Nolan's apnea issues, and neither one has "fixed" his problems. Anyone could see why we're a little dubious about a third surgery, intended to "fix" the apnea. And why we are concerned that something major has been missed, since normal almost-four year olds haven't had so many surgeries (four sets of ear tubes, tonsillectomy and adenoidectomy, posterior urethral valve ablation, supraglottoplasty, upper endoscopy, bronchoscopy... and now recommended for a fundoplication). Typical four year olds also don't wear hearing aids and glasses, and need a machine to help them breathe at night.

I deeply hope our insurance will approve the visit. It will either let us rest assured that nothing is seriously wrong with our boy, or will shed some light on why we have been spending so much time in various doctor's offices.

Busy, Busy, Busy

This week has been fairly busy. Not in a "lots of crazy medical appointments" sort of way, but in the normal preschool-program-playground-visiting loveliness that comes with May.

Nolan did break the nose pad on his glasses, so we took a trip to Walmart to get the nose pad replaced. His glasses have a saddle-nose bridge piece, which does help the glasses to stay up on his face.


Unfortunately, the glasses still sit pretty low and he spends most of his day looking over the top of the glasses. With amblyopia, this is a very bad thing: he needs to look through the lenses to get his brain to recognize the presence of the weak eye. We return to the ophthalmologist in June, and I have a suspicion Nolan will be going Pirate-style with an eye patch this summer.


Matt has decided to give us a run for our money, too. He is, overall, very healthy. Unfortunately, he has never been dry during the day. Now, at five-and-a-half, this is becoming an issue. We go through an incredible amount of laundry, and obviously we don't want him to start kindergarten with an embarrassing continence issue. We see the pediatrician next week to address this: the first course of action is to try a drug called DDAVP to see if that helps him become dry during the day. We may also have to do some tests, since Nolan has a urology problem that can be seen in brothers (the posterior urethral valves). It is highly unlikely that Matt has the issue, since it only occurs in 1/8000 male births, but the consequences can be devastating if it isn't corrected. I'm really hoping the DDAVP is all he needs, because then all we need to do is "watch and wait" for his bladder to mature.

I'm also still waiting on Nolan's sleep study results. They are probably already in at the Pediatrician's office, but I will wait until next week's appointment to pick them up. In the meantime, we're just praying that the apnea is gone.

Urology Visit Completed

Yesterday's appointments involved a whole lot of "hurry up and wait." I had the boys up at 6:00am and we were on the road by 6:30am, to arrive at Buffalo Children's in time for Nolan's ultrasound. We checked into Admissions and proceeded up to Radiology on the second floor. On a side note, everyone in Admissions now recognizes us, which makes things a little smoother (Oh, it's Nolan- here's your paperwork!) but is a tad disconcerting-are we really there that often?

I figured drinking 16 oz. of liquid would be the easy part- Nolan is a juice addict and normally would suck that volume down in a heartbeat. Unfortunately, this morning he decided he wasn't
thirsty. After much cajoling, begging, and putting the sippy cup to his lips, he finally drank 8 oz. They called us back for the ultrasound a little early, so I was hoping it was enough to get good pictures.

By some small miracle, his bladder was full and the ultrasound tech got great scans of his kidneys and bladder. Matthew was hovering over the tech's shoulder and had a fine conversation with her:

"What are you doing?"
"I'm going to scan your brother."
"You're going to SKIN him? How do you do that?"
"Scan him. I'm going to scan him, not skin him."

Matt looked slightly disappointed, as the appointment was far more boring than what he thought it would be. He did impress the tech, though, when she showed him the blood flow moving on the ultrasound. Matt told her, "Yes, the blood moves the oxygen around." Thank you, PBS, for your fine science education!

After the ultrasound, I had to kill a full four hours of time. Our follow-up appointment was at 1:00pm, and the parking garage was full. This meant I didn't want to risk leaving for a trip to the McDonald's playground, because there would be no parking when I returned (parking is in scarce supply at Buffalo Children's- it was nearly full when we arrived at 8:15am)! We camped out in radiology, playing with the three broken toys in the waiting room. Did I mention that Buffalo Children's has almost nothing for children to do while waiting for tests? Just sayin'...

We ate lunch in the cafeteria, which involved Nolan spinning in circles with his arms out while Matt raided the ketchup packet bin. I'm not sure if any food was consumed, but we killed 30 minutes and I was grateful that no one was crying or fighting for a full half hour.

After lunch, we headed up to urology and the boys watched some TV. The only toy in this area was a very dirty toddler play table. We still had an hour to kill, and the boys started whining and becoming difficult. I can hardly blame them- this was a very long, boring day!

The lady next to me asked, "What time is your appointment?" I told her it was at 1:00pm, and she said, "Us, too!" The family next to her said their appointment was at 1:00, too. After some general discussion, we realized all ten waiting families had appointments for 1:00pm- with the same doctor. There was no sign-in sheet, and the office was still closed because the office personnel were at lunch. I figured there would be a giant free-for-all at 1:00pm.

I was right, as the shutters over the desk went up at 1:00pm and everyone in the waiting room scrambled to get in line to put their name on the sign-in sheet. All appointments were at 1:00pm, but they take you in the order of the names on the sign-in sheet. What a crazy system!

We were finally called and Dr. W. walked in with his medical student. Luckily he remembered Nolan's history, and he let us know that Nolan's ultrasound was completely normal. We were expecting this, because it was normal last time, and now that the blockage is removed, there should be no cause for further problems. He did ask if Nolan was completely toilet trained, and I told him that he was not.

I was hoping that we would be totally discharged from urology at this point, because it would be nice to cross a specialist off the list, but he wants to keep Nolan until we can prove a fully functional bladder. This requires complete toilet training, so we will return next year for another ultrasound and follow-up appointment. If, at that point, the ultrasound is clear and Nolan is completely toilet trained, we will be discharged from urology.

Now there's an incentive to toilet train! Hopefully, by this time next year, Nolan will be sporting underwear and a smaller list of specialists!

Gearing Up for Preschool

I can't believe summer is over, my tiny newborn is two years old, and preschool starts this coming week. Many families agonize over the type of preschool their deaf or hard of hearing child will attend. We don't have that worry, because we don't have many options. In our area, there are no oral deaf schools, no cued speech schools, and no bilingual ASL/English schools. There are three mainstream preschools in our area, and only one has a program for two year olds.

So for two hours on Thursdays, Nolan will be attending First Covenant's "Two By Two" program. I did this program with Matthew, and it is a wonderful program specifically geared to two year olds. As a side benefit, the parents get to go upstairs and have a snack and coffee during the program time (adult conversation is a very big thing in my world).


While I have done this program with Matt, this time it is different. For one thing, Nolan is my baby. My sweet, cuddly, still-missing-eight-of-his-baby-teeth baby. He's also small. Those jeans falling off his waist in the photo above? Size 12 months. The ten month old at today's softball game was the same size as my two year old, so his size makes me a little more protective. Maybe it shouldn't, but it does- he gets knocked over easily and isn't as "sturdy" as a lot of the other two year olds in his class will be.

And then I worry about how well he will hear in his classroom, with 11 other children, tile floors, and poor acoustics. No TOD, no FM System, and no one trained in educating or working with a child who may not hear them well at all with all the background noise.

I worry that the other parents will judge the whole potty training issue, which we haven't started because of some physical issues related to Nolan's PUV's. I dread the talk of toilet training and how everyone else has a great method that works lickety-split.

I worry that he will spit out his food at snack time, or spit up. Or choke and gag, as he sometimes does. That he will start one of his crying jags, which we now know is caused by a reflux event. I worry that the other teachers won't "get" that his eating issues and behaviors are related to a medical problem.

Some people have told me that Nolan starting preschool is no different than when Matt started preschool. But it is entirely different. On-a-another-planet-different. I'm not worried about him learning his colors and shapes, as he already knows these. Hey, he even knows many of his letters and that his name starts with an "N." No, I am worried about him, as a person. Will he socialize well with the other kids? Will he separate from me easily, or has he been scarred from so many medical issues in the past few months? Will he panic? Being the smallest one in the class, will he be babied too much?

We have an "orientation day" and I am going to meet with the preschool director (who personally teaches the Two-By-Two class) to discuss all of my worries. To show her his audiogram and explain that yes, he talks very well. But he doesn't have the concept of "yes," he doesn't answer questions without help, and he might not be "getting" what you have told him, even if he follows along with the other kids.

That first day is going to be harder on Mommy than it is on Nolan. I know, deep down, that he'll be just fine. The first few weeks might be rough, but he'll find his wings, dip them in finger paint, and get messy and be happy with the other kids.

Post- Op Appointment

Mr. Nolan on the deck

We had a nice, uncomplicated visit with the urologist today, concluding our little encounter with posterior urethral valves. He confirmed that the VCUG was completely normal, and I reported that the post-operative period has been fairly uneventful. Except for a low-grade fever of about 100 degrees, but Nolan seems to almost always have that. We don't have to see the urologist again for an entire year, and when we do it will be for a bladder ultrasound. No big deal, and we'll just monitor the little guy over time to make sure his bladder doesn't show evidence of thickening (something that can happen with PUV boys). Nolan's in a really low risk category since he has no apparent kidney or bladder damage, and normal creatinine levels.

The only complicated thing is the travel. When Nolan was an infant, trips to Buffalo meant a screaming baby and a frustrated toddler. Then things got easy for a little while- Matt was old enough to entertain himself and Nolan was older and less fussy.

With a toilet trained 3 1/2 year old and an almost-2 year old, things have gotten "complicated" again. Just past Fredonia (and long past any bathrooms), Matthew announces he has to go pee pee. While I am thrilled that he is completely toilet trained, I wasn’t thrilled at the location of his urgent request. There is NOTHING between Fredonia and Cassadaga. A few minutes later. Matthew-with-the-yellow-eyes announces that perhaps he could go in the woods. I was tempted. The shoulders were narrow, the traffic fairly busy, and there was NO bathroom in sight. I told him to hold it “a little bit longer.”

We make it to Fredonia and the most blessed Sunoco on earth. I rush inside with Nolan (who has conveniently lost his shoes in the car) and a scissor-legged Matt. We got the key to the bathroom, and Matt walks inside to see a… URINAL. Wide eyed, he says (de sotto voice): “I want to pee in that.” Unfortunately, Nolan also spied it and managed to get his hands into it before I could stop him. ACK! I pull Nolan away and hold Matt up so that he can use the thing. Nolan thinks the “fountain” is funny and tries to stick his hands in the stream- EGADS! He has no ears on, of course, because I left them in the car in my haste. I don’t know what the Quickie Mart patrons could have been thinking, with me yelling, “Nolan! Don’t touch the PEE!” I get Matt cleaned up, wash Nolan’s hands in the dirty gas-station sink, and rush both boys back out to the car. Luckily I had some wet wipes in there.

I think I am going to invest in a little porta-potty. No one ever tells you about gas station bathrooms and toddlers before you have kids. Blech.

Hitting Little Snags

Nolan was doing so well the day after surgery and yesterday, that I thought we wouldn't have any of the expected complications from surgery. We haven't had anything major, but he is a little warm (99.6 degrees) and there is some bleeding and pain today. He isn't too bad, so we're going to attempt to get outside and play a little.

I do have to slather the kid in about 8,000 gallons of sunscreen, because his antibiotic (sulfamethoxazole with trimethoprim) causes sun sensitivity. It can also cause kidney stones, so he gets to drink as much diluted juice as he wants. Luckily we get to discontinue the antibiotics after this weekend.

I still don't have the results of the scintiscan, but I know the ENT's office has them. I called and inquired about them, and they told me that they would call me back with the results. No news is usually good news, though I wish the receptionist would just say, "the scan was normal."

Back to Normal

The Good News: Nolan is back to normal!!

The "Bad" News: Nolan is back to normal.

Next on the schedule: room clean up and reassembly time!

Medical Update

Nolan, the day before surgery

Nolan is sleeping off the morphine, so I have a minute to post a short update. He had his scintiscan on Friday for gastric reflux, and I don't know the results of that test yet. To my untrained eye, there was no gastric reflux, but we don't have the radiologist's report yet. I'm not sure where the rest of the failure-to-thrive investigation will lead, but I'm loathe to do any more testing. I'm really working hard on the "fatten up Nolan" campaign!

The cystoscopy was this morning. The urologist said he didn't expect to find any posterior urethral valves (PUVs), because they are so very rare (something like 1/8000 births). Not only are they rare, but they usually have very severe side effects early in development. Many babies don't survive the neonatal period with this particular problem.

The procedure (for no valves) was supposed to take 10 minutes. 45 minutes later.... the urologist came out. He took us into the conference room and explaned that Nolan had posterior urethral valves and they did have to remove them. The bladder and kidneys don't appear to be affected at all- we're extremely lucky. The VCUG also showed no urinary reflux, which means that his kidneys aren't in jeopardy from that particular problem.

We are dealing with some amount of pain- the morphine has mostly worn off and he's just on Tylenol from here on out. We're trying to get him to drink a lot to keep things dilute. Hopefully the worst of it is over, and he will be up and running around by tomorrow morning!

I hate this medical stuff. I'm so glad we're past this and it looks like we have the PUV's resolved before they could cause any damage to his bladder and kidneys. Here's to the end of medical appointments!

ENT Visit

We headed up to Buffalo for a routine ENT check-up. Kids with hearing loss see an ENT on a regular basis to make sure the middle ear is as healthy as it can be, since fluid or ear infections can make a sensorineural hearing loss worse.

The left ear has a patent tube and looks great- no fluid, no wax, no infection.She took a look in Nolan's ear and confirmed the right PE tube was out, and that there was a lot of wax in that ear. She did a tympanogram on the right ear and the eardrum is a little stiff. After further investigation, the stiffness is not caused by fluid. I'm guessing the bad infection/perforation and two sets of PE tubes may have caused some scar tissue- hopefully the "stiffness" isn't enough to affect the hearing in that ear. Still, I'm thrilled because no fluid means no third tube and no adenoidectomy.

I did mention the possible PUV's and scheduled cystoscopy to the doctor and nurse, and that I was still concerned about his lack of appreciable weight gain. She entered the information into her computer and did the usual "mm-hmm" response.

Then she went to clean out his right ear (this involves a papoose board and all sorts of unpleasant metal funnels in the ear). After doing this, she checked his records again and saw that the ENT office hasn't taken an official weight since October 2007. She told the nurse to get a weight on him, then set us up for a 4 month appointment.

The nurse took his weight, furrowed her brows, then sent us back to the exam room. The ENT came back in, took one look at his growth chart, then proceeded to freak out. In a very professional, medical manner, of course. Apparently, seeing a drop from the 60th% to the 3rd% line makes more of an impact than the mom telling the doctor that he's only 21 pounds at 21 months of age.

A yummy cookie. If only he'd actually eat the whole thing!

After asking us if the pediatrician had started up a fail-to-thrive evaluation (um, nope!) and having me fill out another symptomology sheet, she set us up for a feeding evaluation at children's and a scintiscan to check for gastric reflux. Apparently, pulling food out of your mouth, refusing food after the first two bites, spitting up occasionally at the age of 21 months, and being very texture sensitive are indicative of a feeding disorder.

They're sort of treating it as an emergency and have us in for the feeding evaluation on Tuesday. There is a part of me that finds this rather ironic- he's been technically in the "failure to thrive" camp for EIGHT months. I have mentioned the weight issues like, um, Every. Single. Time.

The ENT is a tad concerned that this bizarre constellation of symptoms might be indicative of a syndrome. We've been there, done that before. It's more likely just a bizarre constellation of symptoms. .

For now, we have a bazillion appointments at Children's for the reflux evaluation, feeding evaluation, and cystoscopy. Hopefully it is just reflux and a little Zantac will help him put on the weight.

Urology Consult

We visited the urologist yesterday and he told us that the blockage could be one of three things:

1. there is no blockage and the pediatrician and staff at our local hospital just couldn't place the catheter because they're not as experienced at it.
2. There is a congenital stricture (very rare)
3. He has PUV's.

Because options 2 and 3 are rather serious, we need to investigate. He also wants to complete a VCUG (which we weren't able to do before) becuase of the family history of urinary reflux.

He didn't try to place a catheter today because Nolan's been through so much already. He gave us two options for investigating the problem:

1. Do a VCUG while he is awake, and if they can't place the catheter then they'll call down urology. Then if urology can't place the catheter, we'll have to come back another day to do a procedure while he's put under anaesthesia.

2. Do a cytoscopy under sedation to view any possible problem. If a problem is found, they'll fix it right then. If no problem is found, they'll place a catheter under sedation and then wait for him to wake up, then do a VCUG.

We chose option 2, since we've tried option 1 at our local hospital and it didn't work out. He agreed this was probably the best course of action, and we will be scheduling surgery soon. Hopefully they won't find a problem, but even if they do they will release him the same day. So at least there is no overnight hospital stay. If they do find PUV's and ablate them, he'll have a catheter placed overnight and that will have to be removed the following day, but he'll still be allowed to come home. The nurse will call me next week to schedule the procedure.

Appointment Scheduled with Children's

We saw Nolan's primary care physician today and talked with her about the urethral blockage.

We didn't have to ask for a referral to Children's, because she recommended it. The likeliest cause of the problem is posterior urethral valves (PUV), so we will be consulting with the pediatric urologist to confirm the cause and to treat the problem before it becomes a real problem. PUV is the leading cause of renal failure in children. Finding the blockage accidentally may well be the luckiest thing that ever happened in Nolan's life. We may be able to prevent permanent damage to his kidneys and bladder by treating this early.

Many kids with PUV are diagnosed prenatally, but others (with milder valves) aren't found until they are older. Sometimes, the only symptom is failure to thrive. The definitive test is a VCUG, which we can't do with Nolan (already tried that one)! The next step will likely involve a scoping procedure to visualize the blockage, under sedation.

As a side note, Nolan still has his rash and low-grade fever (we're over three weeks with it now), but seems to be acting fine so we're all assuming it is a persistent little virus that doesn't want to go away. He's actually eating a little better than typical, so that is encouraging.

We have our consult with the pediatric urologist on April 30, so we can enjoy our trip to California knowing that our little guy is going to be taken care of!

The Plan

After doing some of our own research via webmd and other online sources, we think we have come up with a plan for securing appropriate medical services for Nolan. The urologist (who only treats adults) gave us no information, other than mentioning the obstruction might be PUV. His plan is to simply monitor bladder volume and do no other diagnostic testing. The research I've done shows that:

• Most boys with PUV are diagnosed in utero, but mild cases may not be discovered until early childhood with a weak urine stream and a failure to obtain control over bladder function (failed toilet training).
• If untreated, PUV causes a thickening of the bladder wall. In addition, it can cause urine to flow into the kidneys and can cause renal failure.
• All cases of urethral obstruction (in boys) are assumed to be PUV until proven otherwise.

Because the effects of PUV are so severe, even in mild cases, we must see a pediatric urologist to verify this is the cause of Nolan's problem. The diagnostic standard is a VCUG, the same test Nolan was originally scheduled for. Unfortunately, they won't be able to do this test because his blockage is too severe. Another method exists, which involves a scope under sedation. If he does have PUV, there is a simple surgical procedure to ablate the valves and prevent later complications (such as urinary incontinence and kidney failure).

The radiologist at our local hospital asked us if we had noticed a normal, strong urine stream. Which made me think: I have never seen him pee! With my older child, we had gotten a wet surprise during more than one diaper change. That's never happened with Nolan. I thought I was just really good at diaper changes, but it turns out that may have been the first symptom that something was amiss. We'll find out later, I guess.

We have an appointment with his pediatrician on the 30th to get shots and to request the referral to the pediatric urologist. The questions I have written down for her include:

• Are we absolutely sure there really is a blockage?
• How can we be sure without an appropriate scan?
• How likely is this to cause future problems?
• What problems can this cause?
• Wouldn't it be better to correct it now, rather than waiting until he's older?
• How will this affect toilet training?

While I've looked up the answers to many of these questions, I still want her input. And since we were not referred to the appropriate testing facility (the children's hospital), we have no scans which show the location and cause of the blockage.

In the meantime, we are reassuring ourselves with the fact that his kidneys are thus far unaffected.

What Do We Do?

Note to doctors: when a parent asks you "what should we do?" the correct answer is not "that is a philosophical question."

So, here's the rundown:

• Nolan's renal ultrasound is normal. His kidneys are healthy.

That's the good news. The bad news is:

• Experienced nurses could not get a catheter into his bladder.
• The radiologist couldn't get any imaging done.
• He has a urethral obstruction.

We were sent to a urologist (not a pediatric urologist) because of the blockage. We asked him what was going on, and he told us, "well, he has a blockage." Duh.

The doctor asked about how far in the blockage was. I told him about an inch, but we don't have any imaging to show the location or source of the problem. I asked him what could cause it, and he said that some boys have posterior urethral valve obstruction. We don't know if this is the cause of Nolan's issues or not.

We totally found this by accident, since we were screening for ureteral reflux because of my history and Nolan's low weight. Of course, we won't know if he has ureteral reflux because we can't test for it due to the obstruction. On the other hand, his kidneys don't show any signs of hydronephrosis yet, so we are just going to watch and wait.

The blockage is very real, but we don't know the severity. He still has wet diapers, so that is a good thing. On the other hand, they had no problem catheterizing him at the age of 8 weeks for a routine urinalysis (part of the standard congenital hearing loss work-up). So it is possible that the blockage has gotten worse as he's gotten older.

Our conversation with the urologist went as follows:

Us: What should we do?

Him: That's a philosophical question. What do you want to do?

Us: We don't know. What should we do?

Him: Well, you can do everything. Or nothing.

Us: If we do nothing, what can happen?

Him: He could get end stage renal disease.

Us: How likely is that?

Him: I don't know. What do you want to do?

Us: What do you recommend?

Him: That depends on what you want to do.

ARGHHHHH! I just want a concrete plan of action. I don't want to do needless tests, but I also don't want Nolan's health to be in jeopardy.

We settled on doing monthly bladder scans to make sure his bladder is emptying enough to prevent hydronephrosis and kidney damage. His bladder scan number today was 24. Anything above 50 is considered a problem. We also have to keep a sharp eye on him- if he stops wetting his diapers it is a medical emergency.

For the long term, I just don't know what to do. Do we request a referral to a pediatric urologist? Do we do a scan to find the cause, severity, and location of the problem (this is highly invasive under sedation)? I just wish the answers were more clear-cut. Mr. adult doctor wouldn't really give us his opinion.

We are going to talk to his pediatrician again, and I want to write down some questions to ask her. If you have any question suggestions, I'd be grateful. I wasn't expecting to find this problem, but now we have it and have to make decisions. And we just don't know what to do!

Adding Another Specialist to the Mix

Urology, here we come...

I'll update more later.