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). 

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.

ENT Visit (Routine)

Waiting at the ENT

Nolan had an ENT visit today - just a routine follow-up. Normally a "routine" appointment would simply take a few minutes, but a lot has transpired in the past four months or so. We discussed the following:

The Nissen Fundoplication: everyone is in agreement that the surgery has been a success. "Success" does not mean that the reflux is entirely gone, but that the symptoms are mostly controlled. He has only had one ear infection and one sinus infection in four months - for Nolan, this is a major win. 

The G-Tube: due to continuing stridor and the use of C-Pap, the g-tube will remain in place for as long as Nolan has the need for mechanical ventilation at night.

The stridor: I showed our ENT a video of Nolan's stridor and she agreed that it is most likely due to the laryngomalacia. He's been through a lot lately, but she wants to do another scope in the fall or winter. She would like to try to cure the stridor surgically, but we aren't so sure about that route since past attempts have failed. 

Diarrhea: We aren't sure if the diarrhea is due to the fundoplication, the medication, or something else (read: intestinal issues or enteropathy). It comes and goes, and isn't as severe as it was a month or so ago. His ENT agreed to a trial wean from the Nexium (he must stay on the Zantac). This is rather convenient, as he has been off Nexium for about a week due to yet another insurance denial. If the diarrhea ceases, we'll know that is the cause. Since he's been off the Nexium for about a week, I doubt it is the medication (he had an episode last night). I also doubt it is due to the fundoplication, since it was present even before the surgery. We'll take it as it comes.

Weight: Despite some stellar days with eating, Nolan's weight hovers at 33 pounds. He's between the 5-10% for weight. The non-stellar days with eating keep him from gaining well. This is another watch-and-wait thing. He's still on the charts - little, but still on the charts. Yet another reason for the g-tube to stay put - if we remove it, we could very well be having one put in again in a few months as he falls off the charts (unless he starts to gain).

Falling episodes: It is hard to do formal vestibular testing on a young child, but the consensus is that Nolan's falls are vestibular in nature. There isn't much to do about this particular situation, since the attacks are random in nature.

Gross motor skills: Nolan is on "alert" with gross and fine motor skills through the school, since he has some muscle weakness. He can run just fine, but his throwing skills, jumping, and balance are not age-appropriate (as measured by the DIAL preschool scale). Not really the ENT's domain, but we discussed it. He'll probably end up with physical therapy or occupational therapy sometime during kindergarten. Another thing we'll take as it comes.

Fatigue: we aren't sure if this is due to stomach pain/dysfunction or if he has true fatigue. Watching and waiting on this one.

Progressive hearing loss: I brought up Nolan's new hearing level. This is one time I wish he did have fluid or a sinus infection to explain the additional loss. Sadly, this is simply a drop in his sensorineural hearing level. There is nothing to do for it but watch, wait, and increase amplification. I asked our ENT if most kids with progressive losses just level off at some point. She smiled and shook her head sadly, but then said, "Well, sometimes. We have no way to tell what is going to happen." Considering that Nolan started life with a normal hearing level and present OAE's in the high frequencies and now has a 70dB loss in that ear, things aren't looking promising. It could take a long time for his other ear to drop or for either ear to progress beyond the help of hearing aids, but we are probably going to see his hearing slowly slip away.

We'll return to the ENT on October 15 for another routine appointment. An endoscopy will probably be ordered to look at his esophagus and larynx at that time. We'll also be able to discuss his hearing loss, since I should have the audiograms from the July 6 test and the October 8 test by that time.

Holy Growth, Batman!

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

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

Sometimes he has TOO much energy

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

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

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

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

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

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

We Have the Best School District, Ever

Nolan wields The Force at his IEP meeting

Some people live in school districts where it is an absolute nightmare to obtain services. Our school district is the opposite of that scenario - the special education department is an absolute joy to work with.

Nolan's IEP meeting went smoothly, and we obtained some push-in services from his SLP. We also obtained direct services from a teacher-of-the-deaf (TOD) once per week. For the first time, we are adding some real sign language goals to his IEP. Swimming lessons have proved that Nolan cannot hear in the water, which presents a very real communication issue. He is in that odd in-between hearing level state: he can hear (sans aids) in a quiet environment for a distance of about 5 feet. In noise, he hears almost nothing. Since we can't waterproof his hearing aids, we need an alternate communication method - so we have put in a goal for understanding and producing 75 "survival" signs.

Obviously, Nolan continues to be very verbal, and he has an auditory learning style. His remaining goals are for using the FM system in the classroom, filling in those odd language gaps (which have been noted by his SLP and TOD), and eliminating some articulation errors.

Since Nolan has a few other health issues, those are also mentioned on the IEP. He won't be eating in the cafeteria in pre-K, since it is a half-day program. Nonetheless, they included the dietary restrictions into his IEP. His medical information is also included, since he fatigues easily. Nolan looks very healthy, but he will completely slump to the ground and have to be carried at times - particularly in the afternoon. This is just something we are monitoring - it could be related to his apneas at night, or it could be something else altogether. He did have one of his fatigue-slumps during the meeting - he slid off his chair and his tears began. He ended up on Dennis's lap, and a cookie made him feel better.

We had almost finished the meeting, when the Special Education Coordinator watched Nolan holding a crayon. We know he has some low muscle tone, particularly in his hands. This hasn't caused any delays yet, but she was concerned with his grip (fisting the crayon). He passed an OT evaluation last year, but the team at the meeting wasn't really convinced - so they wrote monitoring for fine motor delays into the IEP.

We got what we asked for (hearing and language services), and some things we didn't think to ask for (fine motor monitoring/evaluation). The school district team really, really cares about their children - this is probably why we have the highest elementary school test scores in the region. The staff goes out of their way to ensure that every child has the best opportunity to learn and succeed.

I am so excited for Nolan to start Pre-K next year - we know he is going to excel in our amazing school district!