Pediatric Rheumatologist Appointment

Goodness gracious, it has been hot and humid lately. It was 95 degrees with 98% humidity the other day, and we were miserable in the sultry heat. Living in Western NY, we don't have central air conditioning, because summer typically lasts approximately 5 minutes and winter lasts for the rest of the year. Nolan sweats more than most kids, so he was literally soaked through in this weather.

Three days ago, a dear friend called to tell me that our beloved ENT was canceling all of her appointments. More specifically, her office was canceling the appointments on her behalf. There has been some sort of catastrophe and they do not know if she will be seeing patients again. I still have no idea what has happened, but I am worried for her and for her family. Of course, this leaves us in a bit of a lurch, as Matthew still has significant sleep apnea after his supraglottoplasty. Nolan is fairly complex as an ENT patient as well, so we need to find a replacement that can handle the boys' issues. I have a call into our ENT's nurse practitioner and we will see what she recommends.

Since Nolan had a pediatric rheumatology appointment, I thought I'd ask her opinion, too. His rheumatologist is fantastic, and always takes a good deal of time with our family.

We talked about our latest concerns, which include:

• Bradycardia (slow heart rate) when sleeping - his heart rate dips into the 30's on some occasions.
• Difficulty with sustained walking.
• Hearing loss and management.
• Periodic leg movements and waking at night.

Nolan's weight is hanging in there at 42 pounds, and he is 45.5 inches tall. His nighttime feeds are going well, so that part of his care is fine.

She wants Nolan to see a cardiologist, because his last echocardiogram and EKG were when he was 3 years old, before he had developed the heart murmur he has now. Adding in the bradycardia, it would be good to get a consultation. It is likely that everything will be reported as fine, but kids with connective tissue disorders have a higher risk of having cardiac issues. Better safe than sorry, in any case.

As far as his hearing and other ENT issues, she has a few recommendations. She is going to contact a few other families in the area to see what they are doing with regard to seeing an ENT. 

The periodic leg movements are not due to electrolyte deficiencies or to anemia (he had had blood work during the same time period as his sleep study), so it is likely there is a muscular or nervous system issue at work there. He has some minor central apnea as well as the gastroparesis, so there is something "going on" with his autonomic system. They can treat leg movements with amitriptyline, but this relaxes the palate and airways... which makes the medication a bad idea for a child with congenitally floppy airways. We'll just ignore the problem for now - there isn't much we can do about it. I am driving him to school, which lets him sleep a bit longer in the mornings.

Nolan's lack of endurance and fatigue is becoming a serious issue. Currently, we are carrying him when we are in a city or on vacation. As he grows, carrying him is becoming more difficult. He doesn't fit into a standard umbrella stroller anymore, so the time has come to look into a medical stroller. He won't need to be fitted for a pediatric wheelchair, as he doesn't need full-time use - he just needs a mode of transportation when his legs and body give out. 

We're going to look for one second-hand (Maclaren makes a medical stroller called the "Major," which isn't horrifically expensive - less than $1,000). With Nolan's complexity and mounting medical costs, she wants to investigate acquiring Medicaid as a back-up for covering medical costs. Most medically complex children have Medicaid, because private insurance does not cover DME - in the past, we have paid for Nolan's g-tubes, C-pap, and hearing aids out of pocket. Now we're adding a medical stroller. If he qualifies, we'd use our private insurance for most things, but the Medicaid for the surprising number of things private insurance doesn't cover. His medical costs can be staggering at times, so having a little help for things our insurance company won't cover.

It was a very productive appointment, and she gave us a few good ideas on where to look for a second-hand medical stroller.

We return to Buffalo on Saturday for Nolan's MRI (inner ear). 

Echocardiogram and EKG: Matt's Pre-Op Tests

We woke up to a beautiful morning on the first day of spring. The sun was shining, the flowers were blooming... oh, that's right. We live in Western New York.

Well, it is the first day of spring, even if it is 22 degrees (F) and we're in the midst of a lake effect storm. Matt had an appointment for an EKG and echocardiogram at our local hospital at 8:00 am, so we were up early to clear the snow and get on our way.

The local hospital is very close to our house, which was very convenient. Most of our appointments have a 2 hour drive (each way) as a minimum, so it  was delightful to drive 15 minutes and arrive early for the appointment. We checked into the cardiology unit, and were informed that the pediatrician's office hadn't faxed over the order. They tried to contact the pediatrician's office while Matt amused himself.

The pediatrician's office doesn't open until 9:00 am, so there was a lot of back-and-forth with the paperwork issue. They finally decided to take Matt back and start the echo while waiting on the order.

The echo took a while to complete, and Matt giggled frequently (he's very ticklish). I was grateful he was cooperative, as he has a history of completely freaking out over anything that involves a person in a white coat (dental x-rays are a nightmare). The order hadn't arrived yet, and no one was sure whether an EKG should be performed.

The tech finally returned and brought the EKG machine with her. Since we didn't have the order, the safest bet was to do the EKG - if it wasn't on the order, then she'd throw it away. She didn't want us to have to return in the middle of a lake effect snow storm. I was highly appreciative. They did the EKG, which only takes a few seconds to perform. The receptionist arrived with the order just as we were wrapping things up - the order did include an EKG, so it is good that we had it performed.

I took Matt to Tim Horton's for a doughnut (he chose an Easter Egg shaped donut) and we headed home. I let him chill out and have his doughnut, then took him to school.

I haven't heard any news regarding the echo or EKG yet, so I assume no news is good news. Hopefully it was just an innocent murmur.

We report for surgery at 11:00 am at Sister's Mercy in Williamsville tomorrow.

Crazy Busy: Matt's Pre-Op Physical

Matt had his pre-op physical today. We've been concerned about some constipation that we couldn't get resolved - parents who have dealt with the severe and chronic form of this problem will sympathize. We tried everything, and I mean everything to get the problem to pass (no pun intended).

We think things are finally going in the right direction, but the nurse practitioner ordered a KUB (a x-ray of the abdominal area) to make sure things were cleared out before surgery. After a tonsillectomy, the standard protocol in our area is to place the child on Tylenol with codeine - and narcotics tend to cause constipation in even "typical" kids. In any case, I should have the results of the KUB this afternoon.

They also drew blood to make sure Matt doesn't have celiac disease or a thyroid disorder, since those can cause chronic constipation. It took four nurses to hold him down for the blood draw - he is not a fan of needles.

The nurse also detected a heart murmur. Matt was born with a small hole in his heart and we thought it had closed up (he never had a follow-up echo to verify). The murmur, in conjunction with the rare PVC's on his sleep study report, raise a bit of concern. He's having an echocardiogram tomorrow morning to verify that his heart is OK before he is put under general anesthesia on Thursday.

So far, our week looks like this:

Monday: Nolan's pre-op in Buffalo (check)!
Tuesday: Matt's pre-op, bloodwork, and KUB (check)!
Wednesday: Matt's echocardiogram
Thursday: Matt's bronchoscopy, tonsillectomy and adenoidectomy
Friday: Nothing. Thank goodness.

As a side note, I am glad they are looking at Matt's airway. His tonsils are not especially large, and this is a similar situation to Nolan's apnea (which was not caused by tonsils and adenoids). If it is a malacia causing the apnea and not big tonsils, then we need to address that issue separately. I still hope the tonsils are the issue, though, as sometimes the tonsil beds are large and they can't visualize how big they are from the front of the mouth.

The Best Thing Ever

Nolan's weight has skyrocketed. He still looks..skinny, but holy moly - the overnight feeds are working.

In late July, Nolan weighed 31 pounds. He was nearly five years old. We started the overnight feeds 2 and a half weeks ago, and he is now (drum roll please....)

THIRTY SIX AND A HALF POUNDS.

Yes, folks. You read that right. 36.5 pounds.

Did you know that Nolan has dimples in both cheeks? He does. He has been so underweight for so long that they weren't visible. They're coming back. Which is why I was teary-eyed in the surgeon's office, thanking the nurse for going the extra mile and working through the insurance company/home healthcare agency mess.

There have been some unexpected side benefits from the overnight feeds as well. Nolan has always been a zombie boy when we attempt to wake him in the morning. He would sleep until 10am if we allowed him to, and is so floppy and unresponsive that he often won't eat breakfast. We always blamed this on the apnea, but C-Pap never helped with Morning Zombie Boy.

Since we started the overnight feeds, he wakes before us. He is able to walk and talk. He has energy.

The surgeon made a mention of hypoglycemia, which would make sense since he spills ketones when sick and literally flips out if it has been more than an hour or two since he last ate. His blood sugar is kept stable throughout the night with the feeds, so the theory goes, resulting in "normal boy" every morning. Zombie boy has vanished. The theory makes sense, though we haven't tested for hypoglycemia and likely won't, since he's getting the overnights already.

In any case, he is absolutely thriving. It is likely that his weight will level off a bit soon, as his body is in overdrive and making up for lost time. He's had some joint pain and is probably experiencing growing pains.

His heart murmur is a lot more noticeable lately - both the substitute nurse and the regular nurse heard it, and people don't hear it very often. It was quite loud and obvious last Friday. It's something we'll keep an eye on. He had an echocardiogram at the age of three (before he had developed a murmur) and they saw nothing unusual, so it is likely an innocent murmur.

It is nice to have things settle down on the medical front and have Nolan so healthy and growing.

I love it.

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.

On the Bright Side

Unexpectedly canceled appointments always lead to a lot of stress: all of that angst in gearing up for a stressful procedure is heightened when the appointment is canceled and puts a whole chain of medical events in limbo. Then we have the sitters lined up (for Matt) that we have to contact, the day of school missed for both boys, and the hours of work missed by my husband.

On the other hand, talking to the ENT office personnel every 15 minutes this morning did give me access to Nolan's echocardiogram/EKG results: totally normal. While the ENT has not reviewed the results herself, the nurse practitioner looked at the report and gave me the information. His heart is fine, despite year(s) of severe apnea.

Nolan originally had a well-child appointment scheduled for this Friday, and I forgot to cancel it. Good thing, since the pH probe has been delayed until next Tuesday. We will go to the pediatrician tomorrow and do the routine height/weight/how-is-he-doing checkup. They also do a quick blood count at the pediatrician visits, which is important because Nolan is at risk for anemia (and calcium deficiency and B12 deficiency) from prolonged use of high-dose proton pump inhibitors.

Since we have no school or doctor's appointments today, we are going to play in the snow and finish decorating for Christmas. If nothing else, living in Western New York with a medically complex kiddo keeps us flexible!

Echo/EKG Appointment (Buffalo: Round 1)

It was pouring rain with a high wind advisory this morning. The 2 hour drive to Buffalo is tougher when the weather is bad- at least we didn't have lake effect snow. There were accidents all over I-90, including a car that was upside down and "crunched." I am VERY glad to be home and off the roads!

The pediatric cardiologist's office has the best playroom/waiting room of any specialist we've seen so far. The toys were in pristine condition, clean, and there were a LOT of them. They took Nolan back to get his height/weight and to do the EKG portion of the exam. He's had an EKG before, and it was normal- this test only takes a minute or two. The worst part is pulling off the 12 leads: Matt volunteered to help in this venture, but Nolan declined. It seems he doesn't really trust Big Brother to be very gentle!

The echocardiogram took a while longer. The full scan took about 40 minutes, but the boys were kept entertained with the flat-screen TV playing Dora the Explorer. The technician was really nice, and liberal with the lollipops. We hold all doctors who hand out candy with high regard.

While the technician can't tell us anything, there were no audible gasps or sounds of surprise while she was doing the scan. I am assuming all is normal with his heart: we'll get the official report on Thursday or Friday when we return to the ENT's office.

Tomorrow is a day of normalcy: preschool, speech therapy, and ice hockey. And possibly some Christmas shopping, since I am using present-wrapping as a form of stress relief!

Busy Week Ahead

We really enjoyed our Thanksgiving break- eating a lot of turkey, making gingerbread houses, and playing in the snow.

This week is going to be insanely busy. The general schedule is as follows:

Monday:

Take Matt to preschool #1, order Matt's 5th birthday cake, take Matt to preschool #2, then go to Matt's hockey lesson.

Tuesday:

Take Matt to preschool, take Nolan to preschool, then drive up to Buffalo for Nolan's EKG and Echocardiogram.

Wednesday:

Take Matt to preschool, then hockey (our light day).

Thursday:

Drive up to Buffalo to have Nolan's pH probe placed. Survive the day by watching DVD's the kids love.

Friday:

Drop Matt off at preschool. Drive up to Buffalo to have the pH probe removed. Drive back to Jamestown and pick up Matt from the babysitter's* house. Go to the Christmas parade.

Saturday:

Matt's 5th birthday party at the bowling alley. BYOA (Bring Your Own Advil).

For a stay-at-home mom, I am rarely at home!

*Our babysitter is also our SLP. And no, you can't have her. She's wonderful, and she's OURS!

Still Waiting...

I called the ENT's office yesterday, since I haven't heard anything with regard to the pH probe data. The front office person wasn't sure if there was sufficient data, and told me the nurse practitioner has a note to give us a call. We're still waiting- hopefully she'll give me a call today so I can stop fretting. I am operating under the assumption that "no news is good news."

I scheduled Nolan's cardiology appointment for November 30. I secured an afternoon appointment, which is excellent because it means Nolan won't have to miss school. Despite his attempts at mimicking catatonia in some social situations, he really does love school. He gets pretty upset when he doesn't get to go! Looking at his class picture, he is definitely one of the smaller kids in the class (though not the youngest by any means).

Nolan with the other 2 and 3 year olds.

Picture day is always interesting with three year olds. He had irrepressible cowlicks and a snotty nose, and I am ever so thankful for the photographer's photo editing skills. He insisted on wearing the galoshes- he definitely has his own fashion sense!

Update on the pH Probe "Fallout"

I called the ENT's office as soon as the phone line opened up this morning. The office personnel told me to bring it back to the office, and they would download the information from the recorder and decide if enough data was obtained.

Dennis took (another) day off work and we loaded the boys into the truck. Our ENT maintains two offices, and we were going to the site in Depew (on the southern edge of Buffalo). I walked into the office and the nurse saw the probe in a plastic baggie and exclaimed, "Oh, no!"

I handed them the probe and explained that it came out sometime between 3:00am and 5:50am, when I fell asleep. Unfortunately, the probe has to be sent to the main office in Amherst (north of Buffalo) to determine if enough data was gathered. We still don't know if it has to be repeated or not.

We got about 14 hours worth of data, so hopefully that will be sufficient. They will download the data from the recorder tomorrow, and will give us a phone call as to whether we need to repeat the pH probe study or not.

While I was there, they handed me the paperwork for Nolan's surgery (the supraglottoplasty) on December 14. They also handed me the order for the EKG and the echocardiogram. For some reason, I thought the echo and the EKG would be performed at the time of surgery, but it makes sense that we would do these studies prior to undergoing major airway surgery.

I'll call the cardiologist tomorrow to book an appointment for the EKG and echo- I hope to get an afternoon appointment so the boys don't miss preschool.

I will be very, very glad when January arrives and all of this hullabaloo is over!