New Glasses

The optometrist's shop must have rushed Nolan's new eyeglasses frames after they ordered the wrong ones. Within 24 hours, we received a call stating they were ready to be picked up!

He is so excited to have his new glasses. He picked out an orange case and was thrilled to wear his new specs to school. These are definitely the right frames, and Nolan is pleased that the arms match his ski helmet (both are green).

We will pick up his new hearing aids on Wednesday. I am looking forward to it, because every other word is "what?" at the moment. I think his old aids are on their last legs!

Still Here, Just Incredibly Busy!

We have been so busy in the past 2 months. Some of the "busy" has come from medical appointments, but baseball/tee ball games, Piano Guild, and simply playing outside in the good weather has kept us hopping over the past few weeks.

On the "medical" side of life, Nolan's stridor has already returned post-surgery. Some nights he is quiet, and on other nights he is noisy. We have no idea if there is apnea associated with the "noise." Stridor is fine as long as he isn't dropping oxygen saturation numbers. Nolan will have a sleep study on June 23 to determine how he is faring.


Nolan had a vision appointment, and that went very well. His vision is now correcting to 20/20 in both eyes! When we first started treatment, his vision was 20/80 in the poorer eye (corrected vision - this means his vision was 20/80 when he was wearing glasses). Some people have asked if Nolan will continue to have to wear glasses, and the answer is "yes." He must wear them full time, or else the eyes may "separate" again (he could lose vision in the amblyopic eye). He is also nearsighted, and nearsightedness does not improve in children. The typical course for myopia in childhood is for it to worsen, as the eye lengthens as the child grows.

He has had to come home once from school, and was ill at school twice over the past month. This was not due to a virus, but caused by his gastroparesis. His stomach was bloated and he didn't tolerate his night feeds. This is a problem that we are monitoring, but he is growing and managing to do well overall. We take the bad days in stride and carry on.

We also had Nolan's IEP meeting, which will have its own post (because this one is getting too long)!

On the hearing front, things are looking good. He's only had one infection in the right ear since he had his fifth set of tubes placed in October 2012. His hearing levels were stable, with some improvement in the low frequencies (he had been testing at 75dB in the low frequencies, and he has returned to 60-65dB). We still cannot get aided testing performed, and have had no luck in finding an audiology location that will do real-ear measurements or aided testing. Nolan has some articulation errors due to this issue (he cannot discriminate "sh" from "ch," for example) - the articulation errors are minor and most people can understand him most of the time. He does quite well, despite being aided to only 40-45dB in the high frequencies (aided testing was performed at Buffalo Children's, but they cannot adjust his hearing aids).

 Nolan's right ear improved from 75dB at 500-1000 Hz to 60dB. His left ear, however, decreased from 45-50dB at 2,000-4,000 Hz to 55dB. His right ear drops to severe (70dB) at this level. His ears tend to "catch up" to each other over time. 

Nolan is able to detect spoken sound when it is at a volume of 50-55dB. He cannot comprehend words until they are between 85-96dB in volume. His aided hearing was not evaluated.

We have an appointment with the pediatric specialist in Buffalo on May 22. I am anxious to have the doctor take a good look at Nolan and determine what is causing his leg pain (and hopefully put some of the puzzle pieces together to figure out what is going on with our boys)!

Matthew is still having difficulty with his sleep apnea, and we will see the ENT for his tonsillectomy/adenoidectomy follow-up on June 3. He is on Prilosec and hopefully that will help with the inflammation in his esophagus/airway. Matthew still struggles with severe constipation and we saw a GI doctor in Rochester to try and sort the problem out. They believe he struggles with motility issues (in the same way Nolan does, but lower down in the GI tract). He is on an aggressive medication regime in the attempt to get the problem under control. There is some concern that he might have eosinophilic esophagitis (the concern is there with Nolan, too). This is an allergic condition where white blood cells called eosinophils attack the esophagus. This would explain Nolan's weird "exudate" during his last procedure, and we know that Nolan has a high eosinophil level from his biopsy. The high levels were blamed on reflux, but we may have to revisit the issue since Matthew also struggles with reflux and inflammation with motility problems. We won't deal with this potential issue until we get Matt's sleep apnea under control.

The appointments should slow down as summer approaches, and we are looking forward to having things quiet down for a few months! Matthew will require another sleep study, and there is a good likelihood that he will need a supraglottoplasty to trim away the floppy airway that prevents him from breathing well at night. Hopefully this will be the LAST procedure this year!

Vision Check-Up

Nolan had an appointment with his orthoptist today. An orthoptist is a person who specializes in the treatment of amblyopia, for those who don't frequent pediatric ophthalmology clinics - Nolan has a visit with her every few months to verify that his vision is stable or improving with his glasses.

He had a quick vision check today. The good news: he can now see in three dimensions. Awesome!

The bad news: his eyes are separating again. There is a 2-line difference between his left and right eye (corrected vision differences - even with glasses, his right eye sees worse than his left). He is still using both eyes, which is good, but we obviously want to correct the poor vision in the right eye.

The current plan is to do a dilated eye exam in November to see if his prescription has changed. If that is the cause behind the discrepancy, then new glasses will suffice. If his vision hasn't really changed that much, then he will have to start patching the strong eye to force the weak one to work. The orthoptist did a "quick and dirty" check on his prescription in the weak eye, and he doesn't appear to have a prescription change. There is a fairly decent likelihood that he'll have to patch in the fall, but we'll take it as it comes.

Otherwise, it was a really easy visit. He showed off his knowledge of letters ("does he know the letters HOTV?" "He knows ALL of them, lady!") and aced the stereoscopic (3-D vision) test. We grabbed lollipops on the way out and we ran home to get ready for soccer practice.

The only negative of our eye appointments is that Nolan hates leaving the office. They have a really cool playhouse and the waiting room is decorated with giant Monarch butterflies. The eye doc is our favorite place to go!

The Trouble with Online Glasses

I tried ordering glasses online for Nolan, to save a little money and to get them quickly over the Christmas holidays. With his amblyopia, I want to make sure that we stay on top of prescription changes so that his right eye continues to improve.

Unfortunately, ordering online is really hard with kids. Most sites don't allow you to sort by specific frame size, and what an online site claims is a "small" frame is really a frame that might fit a ten year old. There aren't many frames for small preschoolers online.

I found some "Badger" frames at $39 Eyeglasses and bought them because they were one of the only pairs with a 120mm temple length. The glasses arrived and they were simply too big. The temples were much longer than 120mm (closer to 125mm) and they just didn't fit our little guy's face. This isn't really the fault of the online retailer - small preschoolers can be hard to fit.

I called our local optician's shop the other day and went in to look for glasses that would fit Nolan. He's so small that only ONE pair fit his small face - a pair they had in a drawer underneath all the display glasses. He almost wears an infant sized frame. His new glasses (a Disney frame, with tiny gold Mickey Mouse emblems on the temples) will be ready in a week or two.

We also found that his PD (pupilary distance) had changed in the past six months - not a huge change, but it went from 50mm to 51mm. Getting a proper PD measurement is critical to fitting glasses, so I'm glad I took him in. I tried measuring it myself, but if you have ever tried to do this with a four year old child, you know it is impossible.

In the meantime, the optician adjusted Nolan's online eyeglasses to help them fit better. They're staying up much better since the adjustment. They're still slightly too big (you can see how the lenses are a bit too wide for his face), but at least he's looking through the lenses again.

I learned my lesson - I won't buy online again (for Nolan) unless it is just for sunglasses. In the meantime, we're very grateful that our local optician bent the temples around his ears and fixed the nose pad to keep his current glasses on his face!

Annual Eye Exam

Still lacking stereoscopic vision - but the glasses are cool!

Nolan had a dilated eye exam yesterday. Things are looking pretty good! As far as the amblyopia goes, there is still a line's difference between the two eyes - one eye is correcting to 20/25 and the other is correcting to 20/30. That is a really good improvement for Mr. Lazy Eye!

The exam itself shows a slight prescription change. His right eye became 0.5 diopter more nearsighted while his left eye became 0.25 diopter more farsighted. I am very glad we caught the amblyopia through last year's vision screening program, because his eyes are becoming more divergent as far as the prescription goes. This is known as "anisometropia" - when it develops in adults, it is not a big deal. In children, however, it causes blindness in one eye (unless treated).

A little sensitive to light with dilated eyes!

We are able to hold off on patching indefinitely, which is great news. I need to order new glasses to fit the stronger prescription, and he has to continue wearing them during all waking hours (or else the amblyopia will worsen).

The best news is that we don't have to return for a full six months - and the next exam will be free from eye drops!

What a Week!

Nolan is doing great. His energy levels remain high (sometimes a little too high) and his reflux has been fairly manageable the past week or so. His school bus brings home a very happy boy, who simply loves all of the activities his teacher comes up with. Last week was "fire week" and they did the letter "F" and fire safety drills. He also made the really cute dalmatian hat in the picture. This week is pumpkin week - they have been determining if pumpkins will float (they will), carving pumpkins, and learning about the life cycle of pumpkins.

I, on the other hand, have been having a really... "interesting" week.

On Monday, just before Nolan's school bus arrived, I let the dog inside. I went upstairs to clean up the kitchen, then walked downstairs. Something squished. And then something crunched. Looking down, I saw what could only be described as The Massacre of The Squirrels. Somehow Casey had smuggled his prey inside, and it was now all over the living room.

To prevent the trauma of a young preschool aged boy, I had to dispose of said squirrel parts quickly. We had no paper towels (and paper towels were not up to this job), so I ran for the shovel. And carpet cleaner. Fortunately, I managed to fling the bulk of the squirrel into the woods before Nolan's bus arrived. Unfortunately, I have bad aim and the squirrel ended up hanging from a tree. When Nolan came home, I fed him lunch upstairs and rushed him off to his X-Cel class, to prevent him from seeing squirrel-parts-in-a-tree and squirrel-remnants-on-the-carpet.

I was extremely thankful that he was safely ensconced in preschool as I worked to clean up the heavily stained carpet. It was horrid. After shampooing the carpet twice, I figured I would hit the main level of our house. Might as well, since I already had the equipment out.

As I shampooed the upper level, I realized the dirty water container was full. I unlatched it from the machine, and carried it to the kitchen. That's when the lid fell off, causing the contents of the bucket to spill all over the tile, carpet, and walls. There's nothing like squirrel water splattered all over the house to make the day a little brighter! Since it was time to pick up Nolan, I simply threw bath towels over the whole mess and ran to the preschool.

Once home, I picked up Matt from his bus and then picked up Dennis from work (we were down to one car). Dinner was at Friendly's that night, because Squirrel Water = dinner out. It's a simple equation.

Tuesday morning brought a flood of activity to the house - literally. We woke up to a very flooded basement - about a foot of water was standing in the room. The water line to our ice maker had become detached in the night, and the water pump continually pumped the water onto the tile floor (which dripped right down into the basement). Those things can produce an amazing amount of water. The majority of Tuesday was spent with a shop vac and a sump pump. On the plus side, this water did not contain any traces of squirrel.

The rest was spent in the Walmart vision center - we took Nolan's bent frames in to get them straightened out, but the lab tech broke them when he tried to straighten them. Nolan walked out of the store with a brand new pair of glasses, after we convinced them that they really needed to be replaced immediately since he has amblyopia and we don't want to risk the vision in his right eye.

Wednesday has been sedate so far. No squirrel massacres, no flooded house, and all vision/hearing equipment is intact.

The week can only get better!

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!

Fall Down Go Boom

Nolan decided to take a trip into the TV stand on Friday. I could tell the gouge was deep enough to require attention, so I bundled him off to the pediatrician. Fortunately, the cut was on the forehead and they could glue it back together.

I am SO very glad for modern medical inventions. The glue was SO much less stressful than stitches: no shots, no need to come back to have the stitches removed. A few passes with a tube of medical-grade super glue, and our boy was patched up quite nicely. The cut looks MUCH smaller now that it is glued together (it was about 1/4" wide when we went in), and it should heal nicely with only a small scar.

The glue should come off in about 7 days, and he'll be good to go. He still wasn't a happy camper about the whole thing, but I was just grateful we didn't have to hold him down for stitches!

Nolan has been falling a lot lately, and complaining that his glasses are blurry. This is mildly concerning to me since:

1) His glasses are clean.
2) His vision went from normal to amblyopia in the space of 1 year. He has a history of rapidly changing vision... so it isn't out of the range of possibility that he's having issues because of his eyes.

We have an ophthalmology appointment on Thursday, so hopefully we can rule vision out as a cause to his recent clumsiness. Hopefully it is just "normal" incoordination, though!


Of course, Nolan is forever coming up with new ideas, and his latest is the glasses-as-money-holder. He's been walking around with coins stashed in his glasses ("for the library parking meters"). Fortunately, we've been able to convince him that his pockets are a better location for his spare change!

An excellent place to store spare coins

Letter to the Teacher

I was struggling with how to present information about Nolan's myriad issues without completely freaking the teacher out overwhelming the staff. I found a wonderful "Letter to the Teacher" on Life with the 'Tars, and copied the format.

Here is Nolan's "Letter to the Teacher" for this school year:

Hi! My name is Nolan. I'm so glad to be in your class this year! My mom helped me write this letter to tell you a little bit about me.

I love going to school and playing with new friends! I really love stories and painting, and I know I am going to have a great year!

****

I don’t hear very well, and both of my ears have a moderately-severe hearing loss. I wear two hearing aids to help me hear better – I compensate for my hearing loss very well, but the presence of background noise makes hearing more difficult. Because of this, I also use an FM System in noisy situations: this system brings your voice directly to my ears. I hear better when people face me, and I do not hear as well when people are behind me or speaking from a large distance.

****

I wear glasses to help me see clearly. Both eyes have significant astigmatism, and my right eye is also nearsighted. I have amblyopia in my right eye, and cannot see very well out of that eye, even with glasses. Because of this, I sometimes have difficulties with depth perception (and may bump into things or appear “clumsy.” My eye doctor says I might need to start wearing an eye patch over my stronger eye – if that happens, I will have some difficulty seeing while patched. We are hopeful that the glasses will be enough to help me see!

****

Sometimes, I will get a bit “droopy” and complain that I am “out of energy” or “tired.” Sometimes I will complain that my legs hurt or that my tummy is sick. My mom and dad are not sure why I do this – usually a snack or some gentle encouragement will get me back into the swing of things. I usually do this in the afternoon, so hopefully this will not happen during my school day this year.

****

I don’t breathe very well at night because I have a floppy airway (laryngomalacia) which causes sleep apnea. Because of this, I use a C-Pap machine at night. The doctors are not sure if this will work, as it causes me to become very congested and sometimes causes my lungs to sound very congested. I am not sick, but I will frequently have a congested nose and rattling lungs. Sometimes I wake up very cranky in the morning, because I have had a very bad night’s sleep. We are currently looking into some other options to find a way to treat my breathing problems, but this is expected to remain a problem for the foreseeable future.

****

My stomach doesn’t work quite right. I have very severe acid reflux. The acid reflux is the reason I have had four sets of ear tubes, chronic congestion, and why I developed the floppy airway. I generally do not vomit, but I will occasionally gag and choke on reflux. When this happens, I often cough and my eyes turn red and water. These episodes are brief and I will be fine as soon as the reflux clears. I take very high doses of proton pump inhibitor medication, in addition to an acid blocker, and none of these medications are able to control the reflux.

I also have delayed gastric emptying, which varies in intensity. This means my stomach does not digest food properly, and empties too slow. On very bad days, my stomach hurts badly and I will not eat any food. Sometimes I will vomit the food I have eaten the day before, completely undigested. Most of the time, however, my stomach works well enough and I eat just fine. If I complain about severe stomach pain, this is the cause of the trouble!

****

I'm so excited to be in school this year and I know I will have lots of fun in your class!

Your new student,

Nolan

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.

An Eye Appointment, In Pictures

Eating lunch in the car.

Heat makes Nolan wilt.

Looking over downtown Erie, PA

Matt plays with Legos during Nolan's appointment.

Dr. S's Office is like Disneyland.

Playing in the clubhouse.

Waiting to see the orthoptist.

Can you see the one that pops out? No, I can't!

All done - we got lollipops and we're on our way!

Nolan's right eye is still amblyopic, but the vision has improved a bit. He now corrects to 20/40 with glasses, which is pretty good for a kid with amblyopia! We are going to give the glasses another three months and re-check his vision in September. On the plus side, it gives his eye a little more time to improve. On the negative side, if we have to patch in September, he might have to wear a patch to school. Hopefully his eye will improve enough to avoid patching altogether!

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.

Who You Callin' Lazy?

This picture may come in handy one day...

We had Nolan's vision appointment yesterday. His left eye read the eye chart with no problem. His right eye, however, couldn't see a thing. They tried several different lenses, and he couldn't get down to the "normal" line, even with correction. The verdict?

A lazy eye due to a difference in refractive power between the two eyes. Or, as the ophthalmologist put it: "he has anisometropic amblyopia." Anisometropia (literally, "unequal seeing") is more common among children than adults, and the result can be devastating for the affected eye if amblyopia develops and remains untreated. The brain doesn't like the poor vision it gets from the one eye, so it simply turns it off and relies on the better eye.

For Nolan, his right eye is myopic with a good deal of astigmatism. His left eye is very slightly farsighted, and also has a decent amount of astigmatism. His vision screen suggested 4 diopters of difference between the two eyes, but the real exam shows that he has 2 diopters of refractive difference between the eyes. This is a bit of a relief (the greater the difference, the greater the amblyopia). There is also a difference of about 1 diopter with regard to astigmatism.

The worst thing about amblyopia is that it is completely invisible. There is absolutely no way to tell if a child has amblyopia without an eye exam - there are no outward signs.* Your child could literally be going blind in one eye, and you would never know it.

My PSA: get a comprehensive vision exam before kindergarten. Especially if your child has a hearing loss - amblyopia can be treated very successfully if kids are caught in the preschool years.

I have his prescription in hand, and Nolan will get glasses very soon. Probably wire rims with cable arms, and they'll probably be blue. Nolan wasn't thrilled with the idea of glasses at first. I tried telling him that he would have glasses like Mommy and Daddy, but it didn't really sell him on the idea.

When we used one of his little friends from the John Tracy Clinic as a role model, however, he was right on board. Nolan loves Noah, and loves Noah's glasses. When we explained that he was going to get to wear glasses like Noah does, he was suddenly OK with the whole idea. In fact, he was more than "OK" with it - he wanted them badly. When we left the pediatric ophthalmologist's (PO's) office without a pair of glasses, he burst into tears! I promised him that we'll get his glasses very soon, and he was temporarily placated. I suspect we'll have to make our trip to Walmart over the weekend, or we're going to have a very disappointed little boy on our hands!

Of course, when I got home, Nolan went up to Matthew and declared, "I get to get GWASSES!" Then Matt burst into tears. "Now I'm the only plain one!" Oh, the plight of the older sibling who has no "accessories." We'll probably get Matt a pair of kid's sunglasses, since he feels a bit left out.

We are hoping that Nolan won't have to do any patching. We return to the PO in about six weeks for a follow-up check. If the vision in his right eye hasn't reached the normal level with his glasses, we'll have to start patching his good eye. Here's to a successful reawakening of his right eye before our June appointment - he relies on his vision for distinguishing some sounds (he speech reads the m and n sounds, for example), so the thought of taking away his good eye isn't very attractive.


*Many people confuse crossed eyes or wandering eyes with "lazy eye." Crossed or drifting eyes are strabismus, not amblyopia. While strabismus can lead to amblyopia, it is not the same thing. Most children who have amblyopia have straight eyes, with absolutely no outward sign of the condition. Children will not complain of poor vision in one eye, so the only way to catch amblyopia is to get a comprehensive eye examination.