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

Honestly, It Couldn't Get Any Better

I am so very glad we live in our specific school district. The Universal Pre-K program at our school is simply fantastic. Nolan's teacher is beyond fantastic. Things are just going beautifully at school.

Nolan's teacher sends home a letter at the end of each week, detailing what they learned and what they are going to learn the following week. This is vital information for us - and for Nolan's Teacher of the Deaf (TOD) and Speech Language Pathologist (SLP) - because it allows us to pre-teach some material and vocabulary.

This week, Nolan's class:

• Read stories about starting school
• Sang familiar songs (like Twinkle Twinkle and the Wheels on the Bus)
• Met the classroom puppet (dubbed Lola the Lamb)
• Talked about the calendar and weather at circle time
• Explored the classroom and played at centers
• Practiced walking in a line
• Practiced fire drill procedures.

Honestly, this is so wonderful. The kids are familiarizing themselves with the routine, and reinforcing the concepts by helping Lola the Lamb prepare for Pre-Kindergarten. They are practicing fire drill routines so that no one freaks out and screams like a banshee everyone knows what to do when the alarm goes off.

His teacher is using his FM system and that is working out VERY well. I have been setting the program on Nolan's hearing aids and connecting the receivers, then placing the FM unit in its case in Nolan's back pack (microphone on mute). The teacher just has to pull it out and un-mute the microphone, and voila - the FM is "on." This does mean that Nolan's program slightly mutes sound on the bus, but he can still hear his friends if they are in close proximity. It is the best trade-off at this time, since he doesn't have a TOD to set the system up every morning at school.

Next week they are studying Monarch caterpillars.

Nolan will miss Tuesday's class because of our trip to the Cleveland Clinic, but he'll get back into the swing of things very quickly on Wednesday.

Matt is also feeling better today. He broke out in a sweat last night and the fever disappeared. He seemed right as rain this morning, so I sent him off to school. He should get off his bus in about 45 minutes - I love seeing my boys after their exciting days at school!

School is Fun

In Nolan's words, this is how his first day went:

"I sat on the rug. There was a story about doggies in the school. We sang Twinkle Twinkle Star. We didn't get to play outside. R----* is in my class! I played with the space toy."

It was a great day, and his teacher even called from home later in the afternoon to ask a few questions and to see how his day had gone. Did I mention how awesome Nolan's teacher is? She is beyond amazing. Nolan did have some stomach pain today, but sat on the rug and got through it.

Matthew also started school today. My big boy is in Kindergarten. Next week he will begin attending school from 8:45am - 3:15pm (he will board the bus at 8:15am and won't be home until 4:00pm). He's going to be a little tired while adjusting to the longer schedule.


And my little guy, who couldn't speak until he was three, was full of words about his day:

"We got to sit on the floor and listen to two stories, then we went to see the specials. We got to see the gym, but we weren't allowed to go in because the door was shut. We also got to see the art room, and it is right next door to our classroom! And then we got to see the music room and the cafeteria! They called it a TOUR! And, Mom? We got to play. Not outside or in the big room, but we got to play. And I saw K---* standing in a straight line. And then we got on the bus and A-----* was on the bus and now I'm home!"

Both boys are absolutely exhausted and fast asleep. Tomorrow is another half-day for Matt, which is good because he is really tired! He was also running 100.7 tonight... I'm hoping that is from being so tired and not from an impending virus!


*Names omitted for privacy.

The First Day of School

I thought I was handling the whole going-to-big-boy-school thing really well. Until 3:00am, when lightning flashed and thunder crashed. I woke up with a start, and thought:

OMG. It is going to rain. I didn't think about rain. Nolan's hearing aids will get wet. A hat? Do we have a hat that will fit? OMG what am I going to do? I'll drive him. No... wait... UMBRELLAS! Yes. He can take an umbrella!

You can see that my mind does not function well in the middle of the night.

Of course, my next thought was,

Do they let them take umbrellas to school? Can they take them on the bus, or would they consider them a "weapon" or "projectile?" What if he can't take an umbrella? They didn't mention umbrellas at the parent information meeting and I FORGOT TO ASK ABOUT UMBRELLAS!!

I am pretty sure I was up from 3:00am until about 6:00am, worrying about whether or not it would be all right to send Nolan to school with an umbrella. Then it was time to get up. My brain grew rational once more. I gave Nolan his meds, fed the boys, got them dressed, set up the FM system and cleaned his glasses, and took them outside for first-day-of-school pictures.

Ready for Pre-K

Then I drove down to the bus stop (still threatening rain) and we waited for the bus - with umbrellas. The boys boarded the bus, and are probably just finishing up with circle time as I write this.

Matt has a half day today, so he'll be home shortly after Nolan's "Turtle" bus drops him off.

VERY excited about the bus!

Waiting... WITH umbrellas

In the mean time, I am going to resume my frantic house cleaning as a way to stave off tears.

I can't wait for the bus to bring my babies back home.

Please bring my babies back home SOON!