Holy Growth, Batman!

Nolan's usage of the C-Pap is increasing - his "short" nights with the machine end at about 2:00am (he wakes up irritable). His "long" nights last until 7:00am (or later) - which means he is sometimes getting 11 hours of clear breathing.

The results are incredible. We have never seen Nolan with so much energy and life. The fatigue issues have disappeared, and he has energy through the entire day.

Sometimes he has TOO much energy

He also has rosy cheeks, and a happier attitude. He doesn't cry all. day. long. He giggles, plays tag, and can actually walk through the store without having to be carried.

At this rate, he is going to grow like never before. His little body is finally able to produce the right amount of growth hormone, and he is getting the proper amount of REM sleep (and oxygen) at night. I can't state how much I love this.

He does have a chronically runny nose and some chest congestion, but the trade off in energy is well worth it. Grow, Nolan, Grow!

As a side note, we did get his microarray results about a week ago. I was waiting for the official written report in the mail, because over the phone they told us that it was "normal, but with copy number variations (duplications) of unknown clinical significance." The report came in the mail, and it simply says, "normal." So essentially, his chromosomes look fine and aren't the cause of his problems - though this doesn't rule out a point mutation or other genetic issue below the chromosomal level. And those duplications may prove to be "problematic" in the future (i.e. they may find another child with the same physical issues and the same duplications, which would give the duplications clinical significance).

Since Nolan is healthy at the moment, we don't care about the "cause" of the problems as much - we feel like we have found our solution to his apnea and fatigue in the C-Pap therapy. Hopefully nothing new will pop up - and if it does, we'll just take it as it comes.

In the meantime, we are celebrating and loving life with our energetic little boy!

Mr. Hungry

Whatever caused Nolan's problems in August seems to be gone, and I am SO very happy that his tummy seems to be working again. He has been absolutely ravenous lately, which is so wonderful I could literally do a happy dance.

The sleep neurologist said that one of the ways we could tell if the C-Pap was working was by Nolan's growth. He should experience a big growth spurt over the next few months. Judging by his appetite this week, I'd say we may be seeing one sooner rather than later. With the full-face mask, Nolan is actually starting to get some benefit from the C-Pap machine. We can still hear stridor (that comes with the laryngomalacia territory), but I think he is actually getting some quality sleep for the first time in his young life. Last night, he kept the mask on until 4:00am. This means he got 8 complete hours of sleep. For the first time, ever.

Yesterday, he ate breakfast, lunch, dinner, a string cheese, a pear, and 8 cookies.*

Grow, Nolan, grow!

In other news, still no word on the microarray results. This doesn't really mean anything one way or another - some cells just take longer to grow to obtain results. I did leave a message with genetics today to see if they'll call me back with some news (any news).

Nolan has an ENT appointment on Monday, and we are going to put off discussion of a fundoplication indefinitely. Despite our initial reservations and the horrible month of August, Nolan seems to be doing just fine on C-Pap and I can't see any reason to have a permanent, irreversible surgery performed on him when less invasive methods are working.

Here's to a happy, hungry kid!

*He wasn't exactly given permission to eat eight cookies. They were within reach and Nolan figured it was better to ask for forgiveness than ask for permission. I'm still in shock that he could down 8 of them!

Still Waiting

Nolan's micro-array (oligonucleotide array) results should be coming back soon. We don't expect to "find" anything on this test, but there is still some anxiety during the waiting period. I have no idea why I am anxious - the results will likely be ambiguous. A micro-array is only useful when a deletion or duplication is actually found, with known significance. Micro-arrays don't detect point mutations or frameshift mutations (small changes to actual genes): they only detect the addition or removal of chromosomal segments. The chances of Nolan having a deletion or duplication are pretty low.

Anyhow, the possible results (and their ramifications) are:

Normal Microarray: No detected deletions or duplications. This means that we will know nothing more about the cause of the various medical issues. They could still be genetic, but not detectable on this particular test. On the other hand, we will have ruled out a lot of other syndromes. Essentially, we'll be in the same place we are now - watching and waiting to make sure nothing new pops up, and not knowing what to expect.

Variation of Unknown Significance: They may find a deletion or duplication which is not currently catalogued. Like Tigger, "he's the only one!" Some deletions or duplications may be harmless - to determine the likelihood of this scenario, we would be tested alongside Nolan if this situation occurs. If we also carry the deletion or duplication, it is likely harmless (because we don't have the health issues). If we don't carry the deletion or duplication, then it is more likely to be the cause of his issues. The geneticist would have to research all the genes affected in the region of duplication or deletion. This finding is a real gray area.

Known Deletion/Duplication Found: A known, catalogued deletion or duplication is found. If this occurs, then we will have a name and a cause for everything. This is unlikely, because Nolan doesn't have many of the features of known microdeletion syndromes. On the other hand, there is wide variance and there are a LOT of microdeletions/microduplications known to cause multiple health issues.

The geneticist said it would take a week to 2 weeks to get the results back. Tomorrow is the 2 week mark, so every time the phone rings, we are on pins and needles.

Updates and Some Good News

It has been a rather long week. Matt started going to school full-time this week, which means he boards the bus at 8:15am and gets home at 4:10pm. His days are very long, and he is only five years old, which means he is one tired little boy by the time bedtime arrives! Nolan's days are definitely more manageable (8:15am-11:35am), but we've had several appointments this week.

Monday was supposed to be his sleep clinic appointment (yes, the person scheduled it for Labor Day). Unfortunately, the entire office was out from September 5-September 13 and failed to notify us of the cancellation. I tried to call to confirm the appointment prior to making the drive up to Dunkirk, but their office phone simply rang (no one had heard of an answering machine, I suppose). We ended up driving to Dunkirk and finding a note pinned to the window stating the office was closed for the entire week. There's nothing like spending 2 hours in the car for no reason! We're going back to the sleep clinic on Tuesday the 13th.

Tuesday was the Cleveland Clinic appointment, which went well and we obtained some direction regarding the fundoplication decision. On Wednesday, Nolan started his weekly visits with a Teacher of the Deaf (TOD) to help with identifying any gaps in his langauge development. Nolan is able to rhyme and is working on "A" level reading worksheets (a kindergarten level), so we aren't really too worried about his progress. He does have some random vocabulary gaps, though, so we are working to fill those in.

Thursday was the ophthalmology appointment in Erie - we weren't sure if we would have to patch or not. With his falling issues lately, I was concerned that his vision might not be improving well enough. As it turns out, he is doing VERY well with his glasses. He is not correcting to 20/20 yet, but the improvement is continuing and he is gaining a line of vision at every appointment. As long as he continues this trend, we don't have to patch. This is great news!

I also mentioned a connective tissue disorder that had been casually mentioned by the geneticist. I wanted to make absolutely sure that Nolan's eyes didn't carry the "vitreous changes" that occur with that disorder, and we reviewed his records. His eye jelly looks great, so there is no way he could have that particular issue. To absolutely rule it out, they are going to do a full eye exam at his next appointment in December. It is good to absolutely rule it out, because that particular disorder can result in blindness if certain preventive measures aren't taken. I am relieved to rule this one out, but also concerned at the continuing development of new issues over time. Sometimes, it would be nice to have a name (and a prognosis) for all the apparently random developments.

It is now Friday, and the boys are decompressing after a long week at school. Nolan's classroom is doing a caterpillar unit, and hearing him say "chrysalis" is about the cutest thing on the planet. They have been sequencing the caterpillar life cycle, reading the Very Hungry Caterpillar with props and puppets, and they had a music class today, where Nolan's favorite Slipper Fish song was sung. Show and Tell was also today: he decided to bring a Giant Frog. There was some stress this morning, as finding a Giant Frog at the last minute is a rather difficult task. We finally settled on a large stuffed animal given to him by his beloved SLP last Christmas. He talked about his frog and told the class that it can "hop hop hop." He absolutely loves Pre-K. His teacher is absolutely fabulous.

Next week is much less busy, with school and only one doctor appointment. Thank goodness!

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.

Such a Turkey

Today has been a long day. One of those days. Nolan has been pushing nearly every limit known to man. All. Day. Long.

Fortunately, bedtime is coming very soon. Hopefully tomorrow will be a more cooperative day!

I may not get much of a chance to update in the coming week, because we have a few appointments in different cities (and three different states). Tomorrow (on Labor Day), we have an appointment with the sleep clinic in the fabulous city of Dunkirk, NY. This is the closest doctor to our house (45 minutes away), but I am a tad concerned that they scheduled the appointment on a holiday. I will definitely call before we take the drive up there!

On Tuesday, we have our appointment with the geneticist at the Cleveland Clinic (in Cleveland, of course). I'm not sure what to expect from the appointment, but we are hoping for some direction, at least. And for some insight into some of Nolan's fatigue and stomach issues, which constantly plague us.

Fatigue, Nolan-Style

Wednesday is free of doctors, but Nolan has his speech-language-pathologist in his classroom and will return to school for the first time in four days. He also has his Teacher of the Deaf (TOD) coming in the afternoon.

Thursday is a visit to the Pediatric Ophthalmologist (PO) in Erie, PA. This is the appointment that will dictate whether or not we have to patch Nolan's good eye.

On Friday, the kids *just* have school and I think I may take a long nap.

Thank goodness for weekends!

Histories, DuoCal, and C-Paps - Oh, My!

Since our pediatrician didn't send all of Nolan's relevant medical records to the Cleveland Clinic, we requested specific records from his ENT and GI doctors. Yesterday, I received a bill in the mail.

Nolan's ENT charges $0.75 per page to fax medical records to other specialists. Nolan has 50 pages of relevant ENT records, so the bill comes to about $40 for faxing records to the Cleveland Clinic. I only wish it wasn't so difficult to get his medical records in the first place, because then we could have sent the records on our own and saved about $40. I'm not going to fight it - we only have one shot at getting this genetics evaluation done, so I mailed off the check yesterday. Hopefully the ENT's office will get them faxed in time.

Nolan's appetite has largely returned, so we are dropping DuoCal into everything we can. Fortunately, he loves macaroni and cheese, so hopefully we can get our little 29-pounder back to his baseline.

In the meantime, my frustration level is about 10,000 on a scale of 1 to 10. Our respiratory therapist is worse than useless. She had one C-Pap mask that is designed for children - the Mini Me mask. Unfortunately, the headgear and design of this mask is poor - it is only attached by two straps, so it frequently falls down and off his face during the night. This leaves the head-net and tubing around his neck - clearly, this cannot be very safe.

I looked online and found another mask designed for children, and I sent the respiratory therapist the link. She called us back in and handed me a mask - not the one from the web link I had sent her. The one she handed to me was an adult petite mask - it is too large for Nolan. She also gave us petite adult nasal pillows (these insert into the nose) with an adult head-net. It just doesn't fit the little guy.

The mini-me mask (left), adult nasal mask, and adult nasal pillows

I am beyond frustrated with this process. The respiratory therapist is either lazy or stupid: adult masks do not fit 29 pound four year old children. On top of this, the home healthcare company charges $275 for these masks that don't fit. I ordered a pediatric mask off the internet - it was $99 with free shipping. Hopefully the company will send the correct mask, and we will have a solution for our little guy.

Nolan has been asking for his "mask" at night - and he has bonded with the Mini Me mask. If only this mask would stay on for more than 30 minutes at a time, it would work out well. The overall design of the mask retention system is the real problem.

Hopefully the "Child Lite" mask that I ordered will arrive soon. Once we find something that stays on his face through the night, we'll be able to really tell if the C-Pap is working or not!

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.

Information from the Cleveland Clinic

The Cleveland Clinic sent off an information packet very quickly: I received it in the mail at the end of last week. It includes a map and a timeline of our appointment on September 6 (we meet with the genetic counselor first, then with the geneticist). They also included a fax number for Nolan's medical records - I talked to our pediatrician's office and they will probably send them on Saturday. Nolan's medical records are so extensive it will tie up the fax machine for a long time, so they don't want to do it during business hours.

Since our insurance only approved a solitary appointment with the geneticist at the Cleveland Clinic, further visits (and/or any tests) would have to be approved separately. I spend a significant amount of time battling our insurance company - I have a feeling that is not likely to change any time soon. I suppose we'll cross that bridge when we come to it.

We don't have much else going on, other than Nolan's C-Pap titration on the 21st of July. He's had a lot of tummy issues (reflux and some lower GI issues) lately, so hopefully those will settle a bit before the sleep study next week.

Appointment Made for the Cleveland Clinic

Pure summer fun.

I called the financial services department at the Cleveland Clinic to inform them we had received a letter of approval from our insurance company. The financial services person had to call the insurance company to verify the authorization, so I hung up and figured it would take a week or so to get a call back to schedule an appointment.

Holy Guacamole, the Cleveland Clinic is fast. Within half an hour, the phone was ringing and the genetics department was on the line. They're scheduling into September now, so Nolan's appointment will be on September 6.

Apparently, the Cleveland Clinic is approximately the size of a small continent - they are sending an information packet and map system so that we can find our way through the campus (there are over 20 buildings on the main campus). They're also sending fax information and history forms, so that Nolan's pediatrician can fax the relevant information to the geneticist.

That's one major item crossed off the "to-do" list, and I am very pleased that we snagged our second-opinion appointment prior to the follow-up with the ENT in late September (when we will revisit the idea of a fundoplication referral).

Approved

The relief I feel is enormous. I just received word that a visit to see Dr. M at the Cleveland Clinic has been approved. Our insurance company will not cover any tests or procedures there, but they will allow us to get a second opinion with a geneticist.

I'll call on Tuesday to make an appointment. We should get in by mid August to early September.

I am so thankful to get the second opinion - we really need reassurance and advice before we think about doing any more surgeries.

Now I can relax and get back to worrying about the dead hearing aid!

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.

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.

The Letter is Being Faxed

Our pediatrician's office is in the process of drafting a letter to our insurance company, in the hopes that they will authorize our trip to the Cleveland Clinic. They asked me for a general synopsis of Nolan's medical history and our reasons for wanting to go to the Cleveland Clinic, so I sent them the sheet of paper I take to each new doctor (his medical history is now long enough that I can't spit it all out in a few seconds). Here is what that paper looks like:

Nolan's Medical History

Gastrointestinal: Severe GERD unresponsive to medical therapy, mild delayed gastric emptying, slow bolus transit time noted during first impedance probe.

Urology: Posterior urethral valves, ablated in June 2009.

ENT: Obstructive sleep apnea unresponsive to surgical measures (tonsillectomy and supraglottoplasty), chronic otitis media (four sets of PE tubes by age 3) congenital bilateral hearing loss (moderately severe mixed hearing loss), severe laryngomalacia. Wears 2 hearing aids.

Neurology: History of severe central sleep apnea (resolved), mild hypotonia.

Vision: Anisometropic amblyopia (myopic in the right eye); astigmatism in both eyes. Wears glasses.

CURRENT MEDICATIONS:

Nexium, 20mg, 2x per day. Zantac 30mg, 2x per day.

PRIOR HOSPITALIZATIONS and tests:

October 24, 2007: ABR diagnosing mild/moderate bilateral hearing loss.

February 2008: Genetics evaluation: Negative for Connexin 26, Connexin 30, and mitochondrial A1555G mutations (non-syndromic hearing loss panel).

March 18, 2008: sedated CT scan of the inner ear (normal).

March 27, 2008: PE tubes placed (set #1).

August 11, 2008: Sedated MRI of the inner ear (normal).

December 2008: Second set of PE tubes placed.

May 2009: Gastric emptying scintiscan (normal for reflux/mild delayed gastric emptying)

June 1, 2009: Cystoscopy and ablation of posterior urethral valves.

July 9, 2009: Upper GI barium (normal).

August 2009: Endoscopy, 24 hour pH/impedence probe (inpatient: severe GERD detected).

January 20, 2010: Sleep study #1: severe central apnea and severe obstructive apnea.

February 10, 2010: Sleep-deprived EEG (20 minute EEG) for staring spells (normal).

March 23, 2010: Sedated MRI for central sleep apnea (normal).

April 13, 2010: Tonsillectomy, Adenoidectomy, PE Tube Set #3 (inpatient PICU monitoring).

August 2010: Sleep study #2: Severe obstructive sleep apnea, mild central sleep apnea.

October 12, 2010: PE tube set #4 (long term “T” tubes placed), Bronchoscopy: Severe Laryngomalacia diagnosed.

November 10, 2010: 24 hour Pharyngeal pH probe: reflux persistent despite PPI treatment. Zantac added to medication regime to stop reflux.

December 3, 2010: Echocardiogram and EKG (normal).

December 2010: 24 hour Pharyngeal pH probe: some reflux still noted with PPI and H2 blocker treatment.

December 14, 2010: Supraglottoplasty and lingual tonsillectomy (inpatient, PICU).

May 3, 2011: Sleep study #3. Central sleep apnea resolved. Moderate obstructive sleep apnea, persistent despite tonsillectomy/adenoidectomy and supraglottoplasty. Fundoplication recommended by ENT. Bi-Pap or C-Pap evaluation recommended by sleep neurologist. Upper GI barium scheduled for 06/27/11; Sleep neuro exam scheduled for 06/21/11; trying to get into Cleveland Clinic for a second opinion from a pediatric geneticist.

Our reasoning for choosing the Cleveland Clinic for the genetics evaluation site was written as follows:

"Due to the repeated surgical procedures, sleep apnea, chronic ear infections, chronic sinusitis, severe GERD (unresponsive to medical therapy), delayed gastric emptying, hypotonia, urology, vision and congenital hearing issues, we are concerned that there may be a single cause underlying the various symptoms that Nolan has experienced. Prior to consenting to additional surgical measures or procedures (recommended fundoplication; C-Pap), we would like to ensure that no genetic syndrome underlies his various issues. The Cleveland Clinic has a renowned genetics program, including a hearing-loss genetics subunit, which is unrivaled in the area. If there is a syndrome or other “issue” at play, we feel confident the Cleveland Clinic will be able to discover the cause – if there is no underlying cause, then we will feel confident with their assessment that his medical history is caused by separate (unrelated) incidents."

Hopefully the insurance company's doctor will look at his history and approve another genetics consultation without giving us a lot of hassle. Our pediatrician's office has been wonderful and is supportive of us getting a second opinion.

The letter should be faxed to the insurance company today, and we should have an authorization approval within 30 days: once the authorization comes through, the Cleveland Clinic will schedule our appointment with the geneticist. This will likely occur in August or September, as it takes a while to get into the Clinic.

In the meantime, our biggest worry is Nolan's fatigue and general "droopiness." This is due to his hypotonia (we think) - the hypotonia affects his upper body and arms the worst; his feet and legs seem generally unaffected. He still has the head lag, though his development hasn't been delayed by it. Still, the effect can be striking in the afternoons. He fatigues while walking, and gets very droopy while sitting or standing.

Nolan, a little droopy in the afternoon

There is a part of me that wonders if his muscle tone issues underlie most of his other problems. The GI tract is made of smooth muscle, so the slower motility and the reflux would be affected by a muscle tone problem. His obstructive apnea could be due to low tone, in addition to reflux and the persistent laryngomalacia. For kids with late-onset laryngomalacia and muscle tone issues, the airway collapse is due to an intrinsic weakness in the system.

We're extremely hopeful that the geneticist at the Cleveland Clinic will be able to piece this together - and if she can't, that she will be able to reassure us that these issues are not connected and that nothing new will pop up to surprise us in the future.

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.

Sleep Study #3: Report

We had the official sleep study report faxed to us, because we wanted to see what the sleep neurologist's recommendations were. Since our pediatrician's office wouldn't give us the report, and our ENT didn't discuss the recommendations from the sleep neurologist, we wanted to review the report to see what the neurologist would recommend.

the report is like any other sleep study report. This is the best sleep study he has ever had, but there are still significant issues. A brief rundown of the actual data:

Minimum O2 concentration during sleep: 87%
Average O2 concentration during sleep: 98%
Number of obstructive hypopneas: 57
Number of arousals during sleep: 125
Respiratory Disturbance Index (REM sleep): 20.1
Respiratory Disturbance Index (non-REM): 7.6

For most people, that's a lot of mumbo-jumbo. A normal Respiratory Disturbance Index for the pediatric population is <1.5: Nolan is obviously above this threshold during any sleep stage. He woke up 125 times during the study. The good news is that despite occasional oxygen desaturations, his average oxygen level is great.

He isn't retaining CO2 yet, which is important. Children who retain carbon dioxide effectively poison their systems with the retained gas - Nolan's CO2 levels were 42mm Hg on average, which is in the normal range.

The sleep neurologist's recommendations read:

"Despite improvement compared to previous study (8-9-10), these findings indicate the ongoing presence of obstructive sleep apnea (for the pediatric age range normal RDI <1.5) consisting mainly of hypopneas with associated disruption in sleep architecture and oxyhemoglobin desaturation, especially in REM sleep (RDI: 8.6, and minimum oxyhemoglobin concentration 87%). If clinically indicated, evaluation by ENT for persistent airway abnormality should be considered. If this has already been performed, a return to the lab for nasal C-Pap or BiPap (given history of hypotonia) titration could also be considered. Clinical correlation is suggested."

I called the sleep neurology center and made an appointment for June 21. I want their take on his situation, and advice on doing a C-Pap or BiPap with the presence of persistent reflux.

While I was at it, I called the Cleveland Clinic and started the process to get into the genomics division at that center. Our ENT feels strongly that Nolan does not have a syndrome. I am not sure whether there is an underlying disorder causing his issues or not, but we are not consenting to any more surgery until we can verify that there is no underlying neuromuscular, genetic, or metabolic problem. The Cleveland Clinic has to get financial approval from our insurance company, so we sit with baited breath waiting to hear back from financial services and the genomics department. If our insurance approves the appointment, we could get in as early as late July or August. If nothing else, getting an "all-clear" from a fresh set of eyes will make us feel better and make better decisions for Nolan.

What It Isn't

The department of genetics called back today and gave me Nolan's test results. Negative for Connexin 26, Connexin 30, and for the mitochondrial A1555g mutation. Darn! I was really, really hoping for one of these since they are non-syndromic and the Connexins tend to be non-progressive.

They didn't run any other genetic tests, so now I am on pins and needles waiting for our March 26th appointment with the ENT to discuss the CT scan results. I called the ENT's office and they have the results in the office, but didn't discuss them with me over the phone. I wonder if they found something, because you would think they would say, "his scan came out normal" over the phone...

About 10-20% of the time, they never find a cause for deafness. We may be part of that statistic. I don't really care what caused the hearing loss, but do want to rule out anything syndromic. I get to practice being patient waiting for the CT scan results. If there is one thing I am NOT good at, it is waiting for results (especially when the doctor's office already has them)!

Insurance Approval For Genetics

Hey, an insurance battle I didn't have to fight! We are approved for the genetic testing on Nolan.

I looked up the tests run by Boston University (where Nolan's blood will be sent), and their standard deafness panel consists of: Connexin 26 direct test, Connexin 26 sequencing, Connexin 30 direct test, and Mitochondrial A1555G Mutation.

I'll probably take him up on the 19th for the blood tests, since I have to pick up (what else?) earmolds anyway. This is a case of hurry-up-and-wait, since the tests take 4-6 weeks to process. If there is a positive result, the lab in Boston will call the geneticist. If there is a negative result, then the test data is snail-mailed back to the geneticist. I hope it is one of these, since they are non-syndromic. At least we can rule them in/rule them out!