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!

New Hearing Aids and Glasses

We haven't picked them up yet, but Nolan's new hearing aids are on order. We will drive up to Buffalo on January 14th to pick them up - we chose the Bolero Q70 SP model. These hearing aids have 16 channels (as opposed to the eight channels Nolan currently has) and are water-resistant. They also have an integrated FM receiver.

The integrated FM is a huge plus. Nolan's personal FM system has not been working properly since he started school in September. He has a Phonak Inspiro, and it has had multiple issues. First, the transmitter was sent to Phonak and they did some basic maintenance... but the transmitter would not work once it was sent back to the school. Phonak replaced the transmitter when it was sent in for the second time, as there was a faulty circuit board. Then it was sent in for a third time because it wouldn't work. Now, one hearing aid won't register the FM signal - but this time, we think it is the hearing aid and not the FM system. Hopefully getting Phonak aids (instead of the Unitron aids he currently has) will help solve our FM problems. While his teachers are so happy to state that he "compensates well," lip reading and filling-in-the-blanks is not the same as actual hearing. He misses a lot.

He is also getting new glasses, which will be picked up the day after getting his new hearing aids. I am excited for his soon-to-be improved vision and hearing!

In other news, the windchill has caused our school to cancel for two days in a row (-30 Fahrenheit with the windchill, -12F as the "regular" temperature). It is warming up tonight, and will actually rain on Saturday. The kids are getting a bit antsy, as the weather has been too cold to play outside and there is a lot of pent-up energy here!

Pediatric Rheumatologist: Finding Answers

We had a visit with Nolan's new doctor today - a pediatrician and a pediatric rheumatologist. Nolan's leg pain can be excruciating at times, occurs during the day and night, and can affect either leg. He often complains of knee pain, though sometimes it is the entire leg that hurts. He conveniently had an attack the other night and I recorded it:


And then, of course, there are all of the other issues. The progressive laryngomalacia with obstructive apnea, the lingering central apnea, the gastroparesis and vomiting attacks, the reflux, the posterior urethral valves, the vision, the progressive hearing loss, and the fatigue.

We saw the new doctor and went over his history. The first thing she did when she heard about the vomiting attacks was to ask us if we had a supply of Zofran on hand. For a child with a Nissen Fundoplication and cyclic vomiting issues, Zofran is a magic bullet to stop the vomiting. No prior doctor has offered it to us before - she had written the script before I could say "no, we don't have that at home." We now have a script for Zofran to keep on hand - if he starts vomiting again, we can give him the Zofran and (hopefully) halt the vomiting attack.

She then did a physical exam. She looked into his ears and saw the 2 tubes in his right ear and 1 tube in his left ear. She looked into his eyes and then started moving him around a bit. She showed me a few "fun tricks" Nolan can do.

His fingers, hands, wrists, elbows, hips, and knees bent ways that joints should not really bend.

While we were aware that he had some hypermobility in his hands, we were told a year ago that it was limited to his small joints. Now all of his joints are affected, and his knees and hips are extremely "loose." They are so loose that they can slip out of joint and dislocate. The awful knee pain Nolan gets is likely due to a dislocation. One way to get the joint back into position is to pull on his leg... this is probably the reason Nolan yells, "Pull my leg! Pull my leg OFF!" when he has leg issues. He has had one incident where his leg locked into a bent position and he was in agony - this was due to a dislocation of his knee. The rest of his pain comes from a type of arthritis caused by hypermobility.

Now, of course, we have to ask the question of why Nolan has extremely loose joints, hearing loss, digestive problems, fatigue, progressive laryngomalacia, etc.

Typically, a neuromuscular disorder or connective tissue disorder is the underlying cause.

The first thing the doctor is going to do is to request a copy of Nolan's brain MRI from when he was 2 years old. He fits the profile of a child with Chiari Malformation. While the MRI supposedly had "ruled out" this problem, they only scanned his brain. Apparently, the spine should also be surveyed to absolutely rule out Chiari. We may have to repeat an MRI - but the rheumatologist is going to review the CD's of Nolan's MRIs to see how much of the brain stem and cervical spine they managed to scan.

There are several other possibilities, and lab work has been ordered to rule out autoimmune conditions. A CPK has been ordered to rule out muscular dystrophies, and another test has been ordered for a gene called MTHFR (which can cause a host of various chronic diseases). This round of lab work may not give us an answer, but it will rule out several things so we can focus on other options. Of course, we may not get "The Answer," but many things make more sense now.

Nolan will have difficulty walking long distance and will become fatigued more easily than other children. His body requires more energy just to keep his joints in alignment and functioning than a typical child. The digestive system and laryngomalacia make more sense, too - those systems also rely on muscle tone and/or proper collagen formation to function properly. Nolan's severe astigmatism also fits into this picture - the eyes require proper connective tissue formation to keep their proper shape. The hearing loss doesn't quite fit into the picture yet, though several connective tissue disorders (and neuromuscular disorders) are associated with hearing loss.

As a side note, Matthew probably has a milder form of the same disorder. Children with these disorders often suffer from constipation (as Matt does) because the colon cannot keep its proper shape and doesn't "rebound" like a typical person's colon. He also has the reflux and late-onset laryngomalacia.

In any case, we will have the lab work done for Nolan and will see the specialist again next week. Even if we don't get a name, at least we will have tried and we know the general "category" of disorder that Nolan has.

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!

Back to School and A New Pediatric Specialist

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

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

ENT:

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

GI:

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

Vision:

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

Urology:

Posterior urethral valves

Cardiology:

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

Other:

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

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

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

I just hope they can help us find some answers.

Santa Wears Glasses

I am a cheapskate. I have a hard time forking over a large amount of money for the mall Santa. Especially since Nolan is incredibly afraid of the guy in the red suit.

Whenever I see an event featuring a "meet Santa" experience, we attend and make our visit with the Jolly Old Elf. These events are free, so if Nolan completely freaks out, there is no loss. This year, Home Depot advertised their Saturday workshop event - complete with a visit from Santa.

We went to see Santa, and Matt sat on his lap and asked for his Christmas gift. He wants a bell from Santa's sleigh (can you tell we read the Polar Express)?

Nolan hid behind Dennis. I tried to bribe him to go up to Santa so I could get a picture, but no dice. He's shy, and it was simply too overwhelming.

So Santa came to Nolan. He got off his big chair and knelt down on the floor. He looked at Nolan and said,
"I have glasses, too."

Nolan smiled and got closer to Santa. He didn't really talk to Santa, but was in complete awe. Home Depot Santa chatted with Nolan and took a lot of time with him. Home Depot Santa knocks the socks off the mall Santa.

To the Home Depot Santa, thank you for being a really great person today. You made a little boy's day.

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!

New Eyes

We picked up Nolan's new glasses today. This pair has the cable arms that we love so dearly, and fit his little face a lot better than the online glasses. They're Disney frames, so Nolan is quite excited to have "Mickey Mouse" glasses. There used to be tiny Mickeys on the end of original arms, but the Mickey Mouse emblems had to come off to put the cable arms on.

We have kept the glasses purchased online for a "back-up" pair, but hopefully we won't need them!

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!

In Which Nolan Gets to Skip All the Screening Tests

The beginning of school has brought a full load of screening tests for every child in Universal Pre-K. First came the speech screening. I noted that he was already receiving services for an articulation delay secondary to his hearing loss. They went ahead and talked to him briefly, and simply noted "we understand he is already receiving services - he is a talkative little guy!" Basically, he got to opt out of the screening process and play with toys.

Next week is the vision screening by the Lion's Club. Since we found his vision issues last year, he gets to opt out of this one, too.

I'm waiting for the hearing screening form to come home - we should really just get a big form at the beginning of the year that says, "Um, yup - Nolan has everything you are going to be screening for. Screening tests not needed, thank you!"

Nolan doesn't mind skipping these screening tests - I suppose the one upshot of having speech/hearing/vision issues is that you get a little more time to play at the Lego table while your friends are getting tested!

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

Preparing for School

School starts next Thursday. There are the normal preparations to make, like purchasing school supplies, going to open houses, and choosing the perfect lunch box.

Then there are the extra preparations - the ones that involve educating and advocating for a little guy who can't explain his extra needs to the adults around him. I called Nolan's future teacher earlier in the week to set up a meeting. I need to show her his equipment and to give her the general lowdown on the little guy. She called me back very quickly. And gave me her home phone number.

We chatted briefly, and I set up a meeting for this coming meeting. Her final words?


"What can I do to help him succeed?"

The best words ever spoken to a parent. She is a wonderful teacher.

I am trying to come up with information that is pertinent, but not overwhelming. I'm working on a simple "Nolan Information Sheet" to explain the relevant issues (vision, hearing, fatigue, choking and gagging). Some of the issues may not come into play very often - he only chokes on food occasionally, though the gagging is occurring at increasing intervals.

This teacher is going to be wonderful for Nolan. She loves art. She loves children. She has experience with special education and with the mainstream. She is amazing.

I know Nolan is going to have a great year in her classroom. I am very excited to see what this year brings!

The First Black Eye

Soccer Ball + Glasses = Ouch.

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!

A Busy Week Ahead

Nolan's preschool field trip to the Fire Station

This week is a little busier than most:

Monday: Matt's preschool, Nolan's speech therapy, and Matt's second preschool.

Tuesday: Drive to Buffalo for a hearing test, and to adjust Nolan's FM system. Matt's first soccer practice.

Wednesday: Matt's preschool, then drive to Erie for an ophthalmologist appointment (we get to find out if Nolan gets to rock the fashion world by sporting a patch and going pirate-style). Then Nolan has a soccer practice, and Matt has swimming lessons.

Thursday: Nolan's last day of preschool, and his "birthday" during class. I have a mothers of preschoolers steering meeting, and Matt has preschool.

Friday: Matt has an end-of-year picnic for pre-K at a local amusement park, so we will be spending the day having a ridiculous amount of fun in the sun!

I love the summer months, but June does get a little insane with the end-of-school parties/events, and then we have a bazillion doctor appointments for Nolan. He sees urology on the 16th (this is routine, and we are hopeful he will be discharged from this specialist). The sleep neurologist is scheduled for the 21st, and the upper GI is scheduled for the 27th. At least one trip a week to Buffalo Children's is on tap for the remainder of June: if only the drive were shorter!

The good news is that preschool ends on the 24th of June (for Matt), so July should ease up a bit with the schedule. I plan on spending a lot of time at the local parks, municipal swimming pools, and on "field trips" to the beach!