pH Probe for Matthew

We drove up to Buffalo again this morning to have Matt's pH probe placed. His supraglottoplasty failed and he still has sleep apnea, so we need to work out the reasons why he still has poor sleep and respiratory issues during sleep.

During his last laryngoscopy, his airway was very red and inflamed. Since he has the laryngomalacia, a presumptive diagnosis of reflux was made and he was placed on Prilosec. A very conservative supraglottoplasty was done (just trimming one floppy side instead of both).

Since he still has apnea, we need to accurately determine if he has airway reflux before considering any further steps. Since he has never been formally tested for reflux, we were told to take him off his anti-reflux meds a month ago. This morning, a probe was placed to detect reflux in aerosol form in his upper airway.

Placing the probe was, of course, an awful ordeal. No child wants to have a tube placed up their nose and down their throat. I won't go into detail, but let's just say that four nurses were involved, along with a papoose board and a lot of tears. Fortunately, the probe was placed quickly and in one try. Once it was in, Matt was fine.

We went home and he's been building a big Lego airplane we bought for him. Thank goodness for Legos.

We return in the morning to have it removed. I haven't actually seen any reflux events, so it will be good to determine if he actually has reflux or not. If he doesn't, then he doesn't need to take medication for it. In addition, revision surgery for his airway would be much less risky.

We'll see what the data shows.. we will get the results on December 4.

Hearing Tests

We took the boys up to Buffalo for hearing evaluations on Tuesday. Nolan didn't have a hearing test, but we did do another aided audiogram (new audiologist) and selected new hearing aids. We are still waiting on a price quote, but Nolan will be getting Phonak Bolero Q hearing aids. We're quite excited about this, as we feel it will let him hear better. Technology has improved over the past 6 years, so new hearing aids are a good thing!

Nolan did get new impressions, as he will receive new earmolds with the new hearing aids. He chose a new color, too - he loves changing his earmold colors!

Matthew had testing for central auditory processing disorder, which is called CAPD, CAP, or APD, depending on where you live. He does NOT have APD, which is good to rule out, as it has a similar symptom set as ADD and as sleep apnea. We already know Matt has sleep apnea, so the inattention/moodiness/zoning out are due to the apnea and nothing else.

We did, however, find that Matthew has developed some very minor hearing loss. It is nothing that can or should be aided at this point, but his audiogram looks something like this:

He used to test as 15dB across the board (normal for children). While the main area of the speech banana is not affected, he is now on a yearly monitoring schedule so that we can aid him if and when the loss enters the speech range.

I am waiting to receive his audiogram in the mail, as this might be slightly "off" from the actual one. The right ear is slightly better than the left ear. Basically, he drops to 50dB at 8,000 Hz (ultra high frequencies) and touches mild in the low frequencies. He is "normal" for an adult hearing level, but has a slight hearing loss for the pediatric age range (better than 15dB hearing level). This does explain why he mishears the S vs. SH sounds. He can 'hear,' but might have difficulty in noise and might have some trouble with ultra high frequency sounds.

This does explain some of the "ADD" type behaviors.. calling his name when he's watching TV and in a busy location - it is not the busy nature of the situation that is distracting him.. he is having difficulty hearing with clarity in noisy situations. In any case, this is something to keep a close eye on.

October Update

Wait, that's right... I have a blog! Perhaps I should update it...

I have several very good excuses for not writing:

1) The kids returned to school and our routine activities keep us busy.
2) I have returned to work part-time and now barely have time to breathe.
3) It looks like this outside:

When it is beautiful outside, I relish every last second of it. Snow is due to hit this Wednesday, so we have been outside soaking up the vibrant beauty of fall.

Nolan's ENT has not been able to return to work. I  heard a very devastating rumor, but have not been able to confirm it. In the meantime, we are praying for her and for her family. We have been moved to another ENT in the same practice, who is now managing both boys' care.

Nolan is fairly stable at the moment. He did have another ear infection in September, but a round of Ciprodex cleared it up fairly quickly. He did have to start school with one ear, but managed to compensate well for the lack of hearing. We do want to look into new hearing aids for him and to obtain an aided audiogram/real-ear testing on a regular basis. He has a hearing aid evaluation tomorrow afternoon - we would like to get water resistant aids with updated technology.

Matthew failed his last sleep study, so his appointment was a bit longer. The new ENT was reviewing his records and decided that we should perform a pH probe to determine if his red/burned airway was truly due to reflux - or some other reaction (there are conditions that mimic reflux). Matt will have his pH probe placed on Friday and will have it taken out on Saturday.

In addition, we aren't certain if some of his ADD type behaviors are due to sleep apnea or to other factors. The new ENT would like to run testing for central auditory processing disorder, which is often confused with ADD (inattentive type). The testing for this disorder is very similar to a hearing test, so he will have testing performed at the same time as Nolan. Two birds, one stone.. at least we're efficient with our appointments.

This means I have three trips to Buffalo this week, and an oral surgeon appointment (I broke a tooth and will have it removed/probably get an implant). Did I mention I am working part time? Some weeks it is very part time. Sigh...

I will try to update more frequently - I keep waiting for things to slow down, but that doesn't appear to ever happen!

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). 

Ear Infection (Again)

Nolan had a fantastic time the week of his birthday. He went tubing on the lake, went to a water park, and we took a trip to Toronto.

Unfortunately, all the heat/humidity/water activities  resulted in a raging ear infection in his right ear. I was able to acquire more Ciprodex drops and started treating it quickly, but Nolan had to start first grade with only one ear.

Thankfully, his new teacher of the deaf (TOD) is beyond fantastic. She actually trained at the Clarke School (an auditory-verbal program) and is thrilled to see Nolan is reading at an advanced level. He is having significant problems hearing, so his desk has been moved to the front of the teacher's desk, and he has daily pull-outs to work on the curriculum in a 1:1 environment. He is adjusting to first grade well, and loves his teacher(s).

His ear took about a week to clear up. Hopefully we won't see another ear infection for a while!

Matt's Sleep Study Results (Post Supraglottoplasty)

Matt's follow-up appointment wasn't until October 28 with the ENT - I figured if there was any "negative" news, we'd find out soon enough.

The ENT's office called and said his apnea is unchanged despite doing a tonsillectomy and adenoidectomy and a supraglottoplasty. They re-booked his appointment for September 22 to re-evaluate his case.

I don't have an official report yet, but the short summary is this:

The bad news: Matt still has moderate/severe sleep apnea.
The good news: I didn't throw out the C-Pap machine!

At least Nolan's apnea is under control for the time being, so we can focus on getting Matt's under control.

Matt's Sleep Study: Post-Supraglottoplasty

I was happy to get a sleep study booked for Friday night - this meant that I would be able to sleep on Saturday during the day, since Dennis would be home to watch the boys. I drove Matthew up to Buffalo Children's and we were ushered into the waiting room just as the sun was starting to set.

The sleep study tech was not quite ready for us, so she sent us to the playroom. Matthew was happy to play with the toys. I, however, was not happy that someone had changed the channel on the waiting room television to play Bones. This television show is definitely not for children, and Matthew was rapt with attention as they showed a half-rotted corpse on the show. I finally found a power button on the side of the TV. Matt went back to playing with his pirates. I was not happy.

We were finally ushered into a room and Matt changed into his pajamas. Matt played on the Kindle Fire with the Bad Piggies game, using it to test out several rocket designs. Sleep studies are much easier at this age, as the kiddos can entertain themselves!

At 9:30, hook-up started. By 10:00, Matt was settled in bed and I was reading a chapter of Harry Potter and the Sorcerer's Stone. He wasn't happy about the nasal cannula, but left it alone. He's actually giggling in the picture below - I was worried it would take him a long time to fall asleep.

Fortunately, he fell asleep almost as soon as I turned the lights out. He stayed asleep until 2:30 am, when he woke briefly and said, "I think it is dusk outside," then immediately fell back to sleep. I managed to get about an hour of sleep, which is much better than getting no sleep at all. At least I would be somewhat coherent on my drive back to Jamestown.

The lights came on at 5:00 am, and we grabbed some Tim Horton's donuts (and a coffee for me). We were home by 7:30 am. I thought I would nap during the day, but I have a hard time sleeping during daytime hours. Matt and I both had early bedtimes that night, though!

I won't get the results from Matthew's sleep study until October 28, which is when we have our follow-up appointment with the ENT. Hopefully his sleep apnea is gone!

Nolan's Sleep Study Results

Nolan's sleep study was an exhausting, sleepless ordeal in late June. He woke frequently and cried. His legs bothered him a lot, and it was obvious from the sleep study report that he has difficulty with periodic leg movements and frequent arousals. He also has moments of bradycardia where his heart rate drops well below 40 beats per minute - this was observed in the PICU when he had his supraglottoplasty as well. He is fine during the day, so it is probably fine - but we will bring it up with his pediatric rheumatologist when we see her in September (along with the leg issues). Dysautonomia occurs with children who have Ehlers Danlos, so it is possible he isn't regulating his heart rate well. Better safe than sorry where the heart is concerned!

On the other hand, we received some fantastic, out-of-this-world news. His second supraglottoplasty/epiglottopexy actually worked. His apnea is now in the mild range for the pediatric age group. This means that we do not have to use C-Pap for the time being. He will have another sleep study next year, as he is high risk for the apnea to return with his connective tissue disorder. We are absolutely thrilled that we do not have to cart around a C-Pap machine and he is getting the oxygen he needs to grow.

So, goodbye C-Pap machine. We won't miss you.

Still Here - Playing Catch-Up and Matt's Supraglottoplasty

I have been absent from the bloggy world. I have a good excuse. We had four - count them, four - surgeries this past spring. Two for Matthew and two for Nolan.

First was Nolan's attempted supraglottoplasty in February, which couldn't be completed because he had funny, white exudate all throughout his airway. He had to be woken up from general anesthesia and we were sent home. The cultures were normal, so this mystery was never explained.

Second was Matt's tonsillectomy and adenoidectomy in March. An outpatient surgery with 8 long days of recovery.

Third was Nolan's supraglottoplasty and 3 day stay in the PICU in April. He was intubated on a ventilator for 2 days.

Fourth was Matthew's supraglottoplasty and overnight stay in the PICU for observation on June 25, 2013.

Honestly, I plead exhaustion. It was simply a ridiculously exhausting spring.

Matthew's surgery went very well. Nolan's genetic syndrome (Ehlers Danlos) wreaks havoc on his tiny body, and it is much more evident when comparing the boys' surgery recoveries. Nolan was in a lot of pain and had a lot of trouble swallowing and required ventilation assistance after surgery. Matthew cried for an hour after surgery, then demanded French toast and a cheeseburger.

Unfortunately, he was only allowed clear liquids for the rest of the day. The morning, however, brought French toast and an ecstatic Matt. "Mommy, this is the goodest breakfast ever!"

Matt's recovery was ridiculously easy. He didn't have to take any pain medication after the first day in the hospital. We went home 24 hours after the operation. 48 hours after his surgery, he was playing in his baseball team's championship game. They got second place.

Seriously. This is Matthew 48 hours after surgery. His recovery was insanely easy. It was nice to have things go so smoothly!

We have a sleep study on August 9, 2013 (this coming Friday) to determine if he still has sleep apnea. I certainly hope his apnea is gone!

Sleep Study Number Six

Nolan had his follow-up sleep study from his revision supraglottoplasty last night. I am absolutely exhausted, so this post may be a complete jumble of incoherent mumbling. Fair warning.

We arrived at Buffalo Children's for the hook-up at 8:00 pm. The children's hospital is much better than the alternate sites because the tech is familiar with children and all of the equipment is properly sized. They also perform CO2 monitoring at the children's hospital and do not perform this test at the alternate sites.

Nolan was a champ with the hook-up. He's so used to the process that he didn't blink an eye.

The only part of the process that he hates is the nasal cannula. He couldn't remember what it was called and kept telling us that he "hated that mustache!" He turned the volume up to maximum on the TV speaker and watched some Sesame Street.

The same episode plays in a loop, so our wonderful respiratory technician brought in a DVD player with Toy Story. Nolan was quite happy with the arrangement, particularly when she rearranged his head wrap so he could put his hearing aids back in.

He fussed a little when the movie was over, and asked us to take his "mustache" off several times. He finally fell asleep, but not for long, He cried out frequently, but the tech came in and told me it was during stage 3 sleep. His legs moved all the time, waking him from sleep. I heard a few apneas, but I am not sure if they were central (some centrals are normal) or if they were obstructive apneas.

With the constant thrashing and crying out, I did not sleep at all. At 5:00 am, the lights came on.

We woke Nolan up. Well, we sort of woke him up. He was in a zombie-state for quite some time.

We left the hospital and drove 2 hours to our house. Nolan fell asleep on the way home, so he got a little more sleep in the car. I am beyond exhausted.

Tomorrow, we get up at 4:00 am to take Matt to the hospital for his supraglottoplasty.

At least we're never bored.

Ehlers Danlos Support Groups and Resources

This post is mostly for my own benefit, as I have been searching for EDS support groups online. I just want to link to them here, so I don't lose them!

I found one group for parents of children with Ehlers-Danlos Syndrome:

Ehlers-Danlos Syndrome: Parent Group

There is another Facebook Group for the Ehlers-Danlos National Foundation (EDNF), and the main website for the organization.

I also found an interesting article on the genetics behind Ehlers-Danlos Syndrome - The European Journal of Human Genetics has the article here.

I still can't find much in the way of severe hearing loss and its relation to EDS. It isn't a common issue to have with the syndrome - it is possible, but very rare.

I have been trying to find cases of EDS similar to Nolan, and have found a few cases that have his gastrointestinal problems. The gastroparesis and cyclic vomiting are Nolan's biggest hurdles in the GI world at the moment, though he is gaining weight and growing with his night feeds.

We will have to make some decisions about Nolan's participation in certain sports as he gets older. For now, we are letting him continue with soccer since he 1) loves it and 2) the sport is gentle in the younger leagues. In the U-6 league, there is a lot of chasing the ball and not a lot of contact between players. He will start swimming lessons on July 8, and hopefully he will take to it like he did last year. Swimming is a good activity for kids with EDS.

With that said, we are heading out in the disgusting drizzle for Nolan's soccer practice. We are not sure where summer is, but we'd like the sun to return to Western NY!

New Ear Molds

Nolan was in desperate need of new ear molds. We picked them up last week - he went for the green-and-blue look this time.

Next week is the last week of school, and we are eagerly counting down the days! Both boys have their class field trips on Friday (Nolan is going to a local playground with his class, and Matthew is going to the Erie Zoo).

I have to admit, I am looking forward to summer. It will be nice to get a break from the early morning routine!

Matt's Surgery Scheduled

We have been so busy that I haven't had time to write. Baseball, soccer, doctor appointments, school events and projects, and piano recitals have kept us overwhelmed with activities! June is a crazy month.

Matt had his ENT follow-up for his tonsillectomy and adenoidectomy (T&A) surgery. He still has very obvious signs of sleep apnea. Since our ENT did the scope at the time of his T&A and found the laryngomalacia, we know that the obstruction is not going to go away without help.

Matt received a once-over and he is not hyperflexible like Nolan is, so he probably does not have Ehlers Danlos Syndrome. His reflux, laryngomalacia, and constipation issues are likely coincidental. This is good news, as he should heal well and not have a recurrence of the laryngomalacia once surgery is complete. He will remain on anti-reflux medication indefinitely.

Matt's supraglottoplasty has been scheduled for June 25. They will laser out the floppy arytenoid folds so that he can breathe freely at night (if you have no idea what a supraglottoplasty or laryngomalacia are, then read more about it here and here).

Fortunately, my mom is flying out to care for Nolan while we are in the hospital with Matt. We need someone who can take care of his g-tube and give him Zofran (if needed) while we aren't at home. I am grateful for the help, as our only other option is to have one parent at the hospital and one at home with Nolan.

Nolan also has new earmolds, but I'll share those in another post.

Finally: A Name - Nolan has a Diagnosis

Nolan is happy and playing again, much to my relief. He had a very tough weekend, which involved extreme bloating, an inability to eat, and vomiting. By Saturday he was so weak, he slept most of the day. Zofran did stop the vomiting for a period of time, thank goodness. I was so grateful to have the prescription!

We had his blood tests drawn on Thursday of last week, and I was grateful to get that part of the process done and over with. On Friday, the hospital lab called and stated they didn't get enough blood. Nolan was very brave and didn't cry when he had to get another poke for that last tube of blood.

I took him to the rheumatologist on Wednesday. She went over his blood work, which was mostly normal (some mild elevations or low levels, but basically normal). His AST level, which is often elevated, was normal for this round of testing.

They tested him for mutations in his MTHFR gene. What is the MTHFR gene, you may ask? The long name is methylenetetrahydrofolate reductase, because you totally wanted to know that information. In any case, there were two mutations tested. Nolan has a mutation known as A1298C (two copies of the aberrant gene). He does not have the other gene (C677T). People who have both mutant genes often have many health problems, but since Nolan only has one "off" gene, he is likely unaffected by the mutation. It is interesting information to have, but not particularly enlightening for his current subset of symptoms. If you are interested, you can read more about this particular mutation here.

The rheumatologist tested his joints and noted his soft skin and bruises on his legs. His elbows hyperextend. His knees, ankles, toes, fingers, hips, and shoulders were assessed... basically, if Nolan has a joint, it bends more than it should. 

Taking his symptoms together, a picture forms. 

Hyperextensible joints
Obstructive sleep apnea
Laryngomalacia (floppy airway)
Gastroparesis
Acid reflux
Hearing loss 
Heart murmur (mitral valve)
"Clumsiness"
Severe astigmatism
Myopia
Soft, velvety skin
Bruising

Nolan has been diagnosed with the Classic form of Ehlers-Danlos Syndrome (EDS). 

The only symptom not covered by this diagnosis is his posterior urethral valves, which are likely not connected to his other problems (he was hit by lightening twice).

His hearing loss level is not typical for EDS. The type of hearing loss associated with EDS is often conductive and mild-moderate. Nolan's hearing loss is mixed in the low frequencies and sensorineural in the high frequencies - and the level is moderately severe to severe. His progressive hearing loss is unusual for EDS.

EDS is a connective tissue disorder - Nolan's body doesn't have properly formed collagen. Every tissue that contains collagen will be fragile and weaker than it should be. His stomach doesn't contract as it should because the tissue is weak. His eyes have an odd shape because the eyes rely on collagen to keep their shape. 

He is already developing arthritis in his ankles.

He fatigues easily because of his loose joints. Since the blood vessels are also made out of collagen, blood has a tendency to pool in Nolan's legs as he walks. This can cause dizziness and fatigue (on top of the fatigue caused by the loose joints). He can't walk as far, or as fast, as a typical child his age. If we are going somewhere that requires a lot of walking, he will require mobility assistance.

His rheumatologist is going to get his brain MRI's to look for chiari malformation again. She wants to make sure they ruled it out, since children with EDS often have chiari malformations and can have a specific type of hydrocephalus.

In the meantime, we are treating his symptoms as they arise. There is no cure for EDS, so we can only help him symptomatically. Having a diagnosis means everything, despite the lack of a "cure:"

• Future airway surgeries are likely to be unsuccessful with this disorder. The tissues around his larynx are likely to continue to prolapse. With a diagnosis, we can avoid unnecessary surgery.
• We know that Nolan's inability to walk and leg pain is not a behavioral problem or "growing pains," and that he is in significant pain and must receive assistance when walking.
• He must avoid contact sports to prevent permanent damage to his joints.
• His heart must be monitored. Some people with EDS are prone to aortic root dilation and most develop mitral valve prolapse. Nolan has a heart murmur in the location of his mitral valve, though an echocardiogram was "normal" when he was three. In light of this diagnosis, it is likely that he will have mitral valve prolapse.
• He needs to keep his hydration levels up to help prevent fatigue. His doctor wrote a note to keep gatorade at his desk during school hours.
• We know his gastroparesis is unlikely to improve.
• We are to give Zofran the minute we think he might start vomiting, rather than waiting for the vomiting attack to begin.

In any case, we are glad to have a diagnosis for the little guy. We can be proactive to keep him as healthy as possible and try to limit the damage to his joints. I do wish we had this diagnosis prior to attempting the second supraglottoplasty, though!

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.

Doing Better!

New prescription sunglasses!

Nolan is almost completely recovered from his supraglottoplasty. He isn't on pain medication anymore, and we have stopped his steroids. I have to say, I am glad to be down to two medications again!

He is still choking on thin liquids, but that problem should resolve with time. He is able to eat most foods again, and we experienced one of the "good" side effects of steroids - they make people hungry. While Nolan still can't tolerate large volumes of food, he was eating constantly when on the steroid. I was very excited and thought that perhaps we could keep him on steroids to maintain the hunger - and then found out that steroids cause things like diabetes and liver issues and can't be continued at high doses for a long period of time. Still, it was great to see him hungry for the first time in...forever.

The little guy has been outside to play a bit, but does tire out easily. He rode his Green Machine for a few minutes yesterday, but couldn't pedal it on our driveway and started to scoot it around with his feet before heading inside for a rest. We also went to Matthew's first baseball practice last night, and Nolan did play on the playground for a few minutes.

It was nice to see an actual smile! He was completely wiped out by the time we got home, so he didn't eat dinner and had some serious bloating issues. He had trouble tolerating his feed last night, but seems fine again this morning. Even though he seems largely recovered, he doesn't quite have the stamina to do his normal activities.

Still, he will be ready to go back to school on Monday. We are all looking forward to the return of routine!

Revision Supraglottoplasty: Finally Home

Nolan's surgery went ahead as planned last Tuesday - this was a relief since the last one was cancelled due to strange "exudate" in his airways. Of course, the cancelled surgery still cost us more than $500 - just another bill to add to the growing pile!

In any case, we checked into Buffalo Children's at 6:00 am on April 9. Nolan was a bit wiped out, but was happy to play the wii in the pre-surgery waiting area.

In the middle of his game, he suddenly sat down and looked quite ill. He said he needed to throw up. We told the nurse and they brought us to a room with a gurney, and called his ENT.

Nolan's stomach is an up-and-down thing.. we've always wondered about hypoglycemia since he vomits more frequently on an empty stomach. They brought us down to the second floor pre-op area, and we waited in the chairs. As Nolan puked his guts up, the anesthesiologist visited with us. The nurse also came and took some blood for a blood glucose reading. His blood sugar was 60, which is at the lower limit of normal for a child. He doesn't have hypoglycemia, so the vomiting is due to some other factor.

In any case, the anesthesiologist saw Nolan's state and told me that I could come into the operating room to be with him while they put him to sleep. I have no idea why they didn't do this for the previous thirteen procedures, but boy howdy - it was so much easier. I walked him back into the OR and held his hand as he drifted off - there was no crying and no hysterics.

After 2 hours, we talked to the ENT for a post-op report. His epiglottis (flap that comes down when you swallow to protect your airway) was flopping over his voice box again, so they tacked that back up. This procedure (tacking the epiglottis to the base of the tongue) is called an epiglottopexy. She also lasered out the floppy tissue (called aryepiglottic folds) that flopped over his voice box. In addition to lasering, she sutured the area to (hopefully) prevent the tissue from collapsing again.

She also told us he has a condition called glossoptosis (gloss-op-toe-sis), which is when the jaw is too small to accommodate the tongue. His tongue falls to the back of his mouth and also obstructs his breathing. If this condition worsens over time, he may need a procedure to fix the problem. Hopefully he won't require help with this issue.

The PICU charge nurse came to retrieve us from the waiting room and brought us to Nolan's bedside. He was heavily sedated and on a ventilator.

Occasionally, he would wake and try to rip the tube from his throat. He was quite wakeful despite heavy sedation - he ended up requiring Fentanyl, Ativan, Versed, and Precedex to maintain a restful state. He did have a fever for the first two days in the PICU, despite the Tylenol they were giving him.

It was a long two days, though at least Nolan was resting comfortably by the second day. His PICU nurse was with him for three days and it was wonderful - his nurse was really amazing and took great care of our little boy. Finally, Thursday arrived and we were able to extubate him.

It took quite some time for the Versed and Remi-Fentanyl to wear off, and our first attempt to take the tube out failed (his O2 sats kept dropping so they left it in for a while). Finally, he woke up enough for the PICU staff to remove the tube. Parents who have gone through this know how heartbreaking it is. Nolan was awake and thrashing, terrified and not really understanding why he couldn't speak. Tears poured silently down his face... the doctors needed Nolan to respond to commands before they could pull the tube. Nolan couldn't do this. There were just silent tears and terror. Finally he mouthed the words, "TAKE THE TUBE OUT." His silent "scream" let the team know he was conscious enough to breathe on his own. They took the tube out.

Once the tube was out, he immediately went back to sleep. His oxygen saturation was great, and we would monitor him for another 24 hours in the PICU. If he could stay awake, eat, and drink, we would be discharged the following day.

Nolan slept all day and did not eat or drink anything. I did not want to stay over the weekend in the hospital. The medical staff wanted to be sure he could drink without choking before sending us home. Fortunately, we talked with the residents and Nolan's ENT - since Nolan has a g-tube, they would allow us to go home despite the lack of eating or drinking.

The following night was really rough. Nolan was very wakeful, but his voice hadn't come back. He would sit up and mouth words, trying to communicate. He couldn't swallow his own saliva, and needed to spit into a towel frequently. Since he was only there for monitoring, his PICU nurse was moved to another patient across the ward and I was the one "on duty" throughout the night.

Friday morning, Nolan woke and was in a great deal of pain - his legs were really bothering him. He gets a strange leg pain every once in a while - not exactly cramps, but he will yell at us to crush his toes, pull on his leg, and pull his feet off. I have no idea what causes this, but I was glad that other medical personnel saw this! Nolan felt very poorly, and we were discharged at 11:00 to go home. I was beyond tired, and grateful to get home.

The leg pain continued for the rest of that day, and was actually more difficult than anything else. He writhed on the floor yelling, "PULL MY TOES OFF!!!" There was really nothing I could do to help him - fortunately the episode passed after a few hours and he was fine later that evening.

Nolan can't swallow liquids well, so he coughs and splutters frequently with drinks. We are putting liquids through his tube. Fortunately, he can eat some foods. Cheese puffs, pancakes, and other dissolvable foods work well. He tried a bite of pizza, but ended up spitting it out. He can't do any "hard" foods like apples or chewy bread. He's still spitting out his saliva - but this should get better over the next few days.

His low-grade fever has made a bit of a comeback, but each day is better than the last. We have even seen a smile or two over the past day or so. I'm not sure when he can return to school. He is far too ill at the moment to do anything, and the choking problem has to be resolved before he can return safely to his classroom. It will probably be another couple of weeks before he's well enough to return to regular activities.

A small smile.