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!