Feedback, I Miss You

Picking Eating Strawberries

Nolan's right hearing aid has not revived itself after several cycles in the Dry and Store. I heard a very faint squeal yesterday morning, but nothing since that point in time. I have a feeling it is completely and utterly dead.

We see his audiologist on July 5 for a confirmatory hearing test, so hopefully she'll have some insight into what has happened to the aid. I never thought I'd say it, but I would kill to hear just a little bit of feedback from that aid right about now. The thought of having to replace his hearing aids makes me kind of queasy - those puppies are not cheap.

In other news, we are still fighting the insurance company for approval to get a second opinion with genetics. Our pediatrician informed me that they are giving her a lot of grief. They reviewed his symptoms and told her that having an overall diagnosis wouldn't change his treatment plan.

Therein lies the rub: if we don't know what is the cause of the various systemic problems, we cannot treat Nolan appropriately. Certain diagnoses do change the treatment plan, since some things are contraindicated for certain conditions. In addition, what if Nolan has some central problem that is treatable? It would kill me to miss a condition which could be treated by an enzyme replacement therapy or other methods. The truth is, you cannot appropriately address the issues in a medically complex child when you don't know what the underlying cause of the problems is.

A fundoplication is contraindicated in many children with neuromuscular disorders, for instance, because motility problems cause pretty horrible side effects in some kids.

On the flip side, if the geneticist tells us that there is no underlying condition, then it is more likely that Nolan will outgrow some of his problems. There is absolutely no way I would have a fundoplication performed on Nolan if there is a chance that he will simply outgrow the reflux.

Hopefully we'll get the approval from the insurance company soon.

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.

Easy Peasy

Nolan's first upper GI barium test was a little bit of an ordeal - he wouldn't drink it, so they had to administer the barium via NG tube, and then we had to wait around for a while to make sure the barium cleared his system. Plus, the radiology waiting room was way overbooked, so there was nowhere to sit or stand while waiting for the test.

This time was a complete 180 from the first test. There was no-one in radiology except for us (and one other family completing an upper GI), and we were called back at exactly 9:30am for the test. They did one "pilot" X-ray of Nolan's empty stomach, and then called him back for the barium test. While I can't stay in the room during the actual test, we had talked about the procedure over the weekend.

Nolan agreed to drink the barium while standing up (the table rotates to accommodate this), and was absolutely brilliant about the whole thing. He didn't seem to mind the barium much - his Zantac tastes much worse, and as long as he didn't have to get a "tubie," he thought drinking the barium was just dandy.

The test was so fast I could hardly believe it - within 15 minutes they said they were done and sent us on our merry way. We pulled out of the parking garage by 10:30am, and headed to the Buffalo Zoo. We spent a lovely afternoon as a family, looking at the elephants and gorillas.

The report will be at the ENT's office by tomorrow afternoon. It is most likely normal: his first scan was also completely normal, even though he had extremely severe reflux. For some reason, Nolan's reflux is off-the-charts severe on the probes, but never seems to show up on the scintiscans or the upper GI series.

At least it is one more appointment done and over with. The rest of this week slotted with lots of outdoor play and soccer games!

We Love Wonderful Summer Weekends

The weather hasn't been that wonderful in our neck of the woods. The temperature is above freezing, however, so we're not complaining. We have spent most of this past weekend fishing on our local lake: Nolan and Matt both caught lots of little sunfish, perch, and even a small bass!

Tomorrow we head back up to Buffalo Children's for Nolan's upper GI series: he can't eat after midnight, and we have to keep him happy for the 2 hour ride up to Children's. Hopefully he'll drink the barium this time - last time he refused and they had to thread an NG tube (a tube that goes up the nose and into the stomach) to administer the barium. We've talked about it a bit, and Nolan agrees that he'll drink the white "medicine" tomorrow. He hates "tubies," so there is a good chance that he'll cooperate this time.

If he gets out of there on time, we'll get to go to the zoo afterward. I'm not promising that yet, though, because sometimes they take quite a few "pictures" after the initial study (i.e. I'm not sure if they're doing a small bowel follow-through tomorrow).

It'll make for a long day, but at least he can eat as soon as the X-rays are completed. Hopefully we'll be home in time to go swimming and play outside a little tomorrow afternoon!

Welcome to C-Pap

Nolan, sans equipment

We took a trip to the sleep neurologist yesterday. The sleep center has an office in Dunkirk, which is (thankfully) only about an hour away from our hometown.

The sleep neurologist told us several things, which are all very comforting. The first is that Nolan's sleep apnea is now at a level that is not dangerous to his heart. If we didn't treat it at all (and it remained at the moderate level), his heart wouldn't be harmed at all. His growth and mental development is another issue, though, so we do have to treat it. Without getting the right amount of sleep (and oxygen) at night, his growth will slow and he will struggle with fatigue and the ability to focus in school. Interestingly, the incidence of sleep apnea is quite high in children diagnosed with ADHD.

The other wonderful bit of news is that there is a possibility that Nolan will grow out of the apnea. It has slowly been getting better since it was first diagnosed: whether that was due to the surgeries or due to growth is unknown. We can't know for sure, but there is the potential that as his airway grows, the laryngomalacia will have less of an impact on his ability to breathe at night.

This is an important bit of information, because we do not want to embark on a permanent procedure (the Nissen Fundoplication) for a problem that may be temporary.

Our biggest concern with the C-Pap was the fact that Nolan has midface hypoplasia (this causes his flat nasal bridge). A C-Pap mask places pressure on the face, and can cause the mid-face to retrude as the child grows: this is an issue with any child on C-Pap, but is a bigger issue in a child who already has a retracted mid-face area. The sleep neurologist wasn't concerned about this at all, because we can use several different masks with different pressure points, and alternate them every few days.

The other concern is the potential for the C-Pap to open his airways and allow the acid reflux to penetrate his lungs. This will effectively determine if C-Pap is a viable intervention for Nolan's apnea. If he starts developing aspiration pneumonia or nodules on his vocal cords, we'll have to stop C-Pap therapy. On the other hand, sometimes C-Pap improves night-time apnea because it removes the obstruction (an obstruction in the airway creates a negative pressure in the chest, which effectively sucks the reflux up the esophagus). Since Nolan's reflux is worse during the day than the night, it is unlikely that the C-Pap will eliminate the reflux. Still, the thought that it might actually help with the night-time reflux is encouraging.

The only way to know if the C-Pap will shoot his reflux into his lungs or help prevent the reflux from occurring is to go through a C-Pap trial. Nolan is scheduled for a C-Pap titration on July 7.

The C-Pap titration is basically a sleep study, but Nolan wears a C-Pap mask. When he goes to sleep, the sleep technician adjusts the pressure of the C-Pap machine until the apneas disappear. If he fails C-Pap (a possibility because of his hypotonia), they'll discontinue the C-Pap and try a BiPap. A BiPap lowers the air pressure to make exhalation easier - it is recommended in kids with hypotonia, but the insurance company won't cover it unless C-Pap is attempted first.

The Home Healthcare Company (HHC) will contact us after the sleep study to set up Nolan's machine. I really hate adding another piece of equipment to the dear boy's regime. It is certainly better than doing an irreversible surgical procedure that may cause terrible side effects, though, so we are all for giving it a try. The best thing is that a C-Pap is entirely reversible: if Nolan actually does outgrow the apnea, then we can simply stop using the C-Pap with no permanent side effects.

The neurologist measured and weighed Nolan before we left. He measured in at 39", which is wonderful. He is back on his height percentile line (he had been slipping down the percentiles, but a sudden growth spurt has brought him back to where he belongs). The bad news is that he weighed in at 31 pounds: he has lost a pound. This places his weight-for-stature somewhere between the 5th-10th percentiles (hey, he's on the charts, so I'm not complaining)! It appears our dear boy cannot grow up and out at the same time.

Hopefully the C-Pap will make growing a little easier for him.

Sometimes I Love Living in a Small Town

Every boy needs a dog.

I ran into our pediatrician at the grocery store tonight (I also ran into three other families we know). Living in a small town can be wonderful sometimes - our pediatrician stopped by to see how Nolan was doing and to tell me that they faxed the letter off to the insurance company. She thinks we're doing the right thing by requesting a second opinion with a geneticist (and for putting off the fundoplication until we have proof that it is absolutely necessary).

She did confirm that it is not a minor surgery, but a rather major procedure. And that it is generally only performed for children who have life-threatening reflux and require a feeding tube. Since we're concerned about motility, there is the possibility of adding pro-motility agents to Nolan's medication regime prior to embarking on a permanent surgical procedure that has significant side effects.

Since the apnea is the biggest issue with Nolan's reflux (potential damage to his vocal cords is another problem with the airway reflux), it is not unreasonable to attempt a C-Pap or BiPap (as his muscle tone allows) to try and correct the apnea. In a nutshell, let's try some less invasive and less risky interventions before proceeding with a major, irreversible procedure. A basic principal: First Do No Harm.

The letter is with the insurance company and hopefully the approval to see Cleveland Clinic genetics will come through post-haste.

We see the sleep neurologist on Tuesday and I have a few questions for him, including:

• Is the apnea likely to be caused by the reflux, or is it more likely to be caused by a physical obstruction/low muscle tone/recurrent laryngomalacia?
• Is a C-Pap absolutely contraindicated for kids with silent reflux?
• How likely is Nolan to grow out of the apnea issues (since his airway will increase in size as he grows)?

If the sleep neuro believes that a C-Pap (or BiPap) is a viable method for controlling the apnea, then we will likely be referred to a pulmonologist for more sleep studies and C-Pap titration. C-Pap isn't without its own set of issues (pressure on a growing face, a real issue for a kiddo like Nolan who has midface hypoplasia), but they are much less of a concern than the issues that come along with a fundoplication. Plus, if the C-Pap doesn't work (or he outgrows the need for it), it is entirely reversible. A Nissen Fundoplication is not.

We'll see what the sleep neurologist thinks on Tuesday.

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.