Surgery Day

Living far from the cochlear implant center means a significant amount of planning is involved for each appointment. For Nolan's surgery, the boys' grandma flew in to take care of Matt while we were in New York City. Surgery was planned for Friday (Veteran's Day), but we needed to leave on Thursday. The boys had a half day of school on Thursday, so the plan was to let Nolan go to school and leave directly once school was dismissed.

Unfortunately, that same day, a man shot his wife and went on the lam in our local area, causing all of the schools to go on lock-down. The schools are fantastic about keeping our children safe, but this was quite stressful as we worried about where the man could be and wondered how long the lock-down would last. In addition, Dennis is leaving for a business trip in China shortly and was trying to get Visa documentation through as the trip and the Visa deadline are in close proximity. I managed to get the boys and Dennis managed to fax the necessary paperwork through by 3:00 pm, which is when we left. We made it to our hotel in Secaucus, NJ at 10:00 pm - which was a pretty fast trip! The benefit of leaving later was the total lack of traffic late at night.

Nolan's check-in time was 8:00 am for a 10:00 surgery, and we knew we needed to get through the Lincoln Tunnel. We left early and hoped the traffic wouldn't be too horrible - it wasn't and we made it to the hospital early.

 Driving into NYC in the morning

Nolan is not a morning person

We checked in and they took Nolan back immediately - which was fantastic. It wasn't long before he was weighed, checked, and allowed to watch a little T.V.

Watching college football

The anesthesiologist stopped by and we went over his history, and we opted for the pre-surgical Versed to help ease any anxiety prior to surgery. Nolan can sometimes become very anxious prior to surgery due to his past experiences, so the Versed was a good choice. It did help him remain relaxed through the rest of the morning.

Dr. Roland stopped by to mark the ear undergoing implantation, and Nolan was dressed for surgery and ready to go.

 Ready to go

Marking the ear

I was allowed to go back with him and he was soon asleep. Dennis and I went down to the lobby (Child Life is fantastic at NYU and escorted us down to the lobby to show us where the cafe was located). We ate quickly and then went back to the waiting room, where we were updated frequently as to Nolan's status. The surgery took about an hour and a half, and Dr. Roland came out to tell us the tympanoplasty was done and the cochlear implant was in place and working perfectly. Everything went as smoothly as it could have gone. 

It took a little while to see our guy, as the recovery room was a little overcrowded that Friday. They moved him to recovery and we finally saw him at around noon. He was given a little extra fentanyl as he was in some pain at that point of the day.

Sweet buddy

For other parents who are going through the same thing, the first couple of hours in recovery were pretty rough. Nolan would wake up whimpering and was in considerable pain. He received a little more fentanyl and then returned to sleep. We had to do this twice, and it was hard to see him struggling those first couple of hours. We are very grateful to the nurses, who took fantastic care of him and also recommended the fentanyl, as when he finally woke up from the final dose, he was MUCH better.

By 3:00 pm (just four hours post-surgery), he was awake, talking, hungry, and thirsty. The turn-around was dramatic and he was doing amazingly well! He drank a good deal of ice water. He requested a popsicle. Unfortunately, there were no popsicles to be found. He did get a peanut butter and jelly sandwich, but continued to ask for a popsicle. Child Life stopped by to check on him (did I mention how wonderful they are?) and immediately went on a popsicle-hunting mission. A few minutes later, he was all set.

Popsicles make everything better

Child Life also gave him this adorable teddy bear - so cute!

A friendly bear is always good

Nolan was doing well and was released at 4:00 pm. Right into rush hour traffic in Manhattan. Oh, and the new security measures around Trump Tower. And also? Trump protesters. A perfect storm of awfulness for driving in a city that is known for its "normal" congestion. 

Manhattan traffic chaos

We needed to get to the Lincoln Tunnel. We wanted to get OFF THE ISLAND. So many streets were blocked and we could not get down many of the streets that would lead to the Lincoln Tunnel. In 1.5 hours, we had gone three miles.. in a circle. It was a nightmare! Nolan was a real trooper and was entertained by his Kindle in the backseat. He was really hungry, but we were stuck in traffic and there was nothing we could do.

We finally managed to make it to the Lincoln Tunnel. I was never so happy to see a tunnel in my life!

O, Lincoln Tunnel, I adore you

We made it to our hotel and Nolan was so hungry he was nearly in tears. We walked into the lobby, but it turns out the chef had called in sick that day so there was no food available at the hotel. With the traffic outside, we couldn't get to the restaurants on the other side of the freeway, so we went to the only restaurant within walking distance from the Hilton Garden Inn - a Dominican food place. The food was good, but Nolan was really tired and decided he wasn't very hungry after all. 

Not very hungry after all

After dinner, I carried him back to our hotel room and Dennis went to the car to get our supplies. Nolan was really wiped out, but was absolutely delighted to find a cookie bouquet waiting for him in the room from this amazing family. 

After a really long and stressful day, it was such a sweet and lovely thing to find!

I managed to get Nolan into his pajamas and he settled in to watch Shrek on the television. He seemed to be OK and fell asleep around 9 pm.

Resting after a long day

He was really unsteady and dizzy that evening, so I was grateful that he settled in and fell asleep. He did wake frequently through the night, but we finally just turned on the TV and allowed him to watch it as needed throughout the night. We don't allow much television at home, so this was a treat for him.

We were able to remove his bandage in the morning. I wasn't sure what to do about this, as we didn't have scissors with us. We tried using toenail clippers, but we were never going to get through it with clippers! We found scissors at the front desk and managed to snip it off. 

Ready to go home.

We were very grateful to head home. We stopped for breakfast somewhere in the Poconos and for lunch in Corning, NY. We made it home by 3:00 pm.

Nolan has been doing really well, though he is sore and still a little dizzy. Every day seems to be a little better. He is doing really well this evening and is a lot more talkative and energetic, so I think he will probably be close to "normal" tomorrow. 

He has been loving the special presents and treats. His aunt and uncle sent him a massive teddy bear, and he is pretty happy about the gift.

Giant bears are full of awesomeness

I am sure he will be back to school soon, though I am worried about roughhousing or Nolan falling, so we may keep him home this week. He has two half-days this week, anyway, so I'd rather he be fully recovered before sending him back to the germ-filled school (strep and everything else is going around at the moment).

We only have three weeks until activation day. I can't believe how quickly time is flying! We are very excited for him to get his new "ear!"

Goodbye, Hearing - Hello, NYU

Life is insanely busy and I don't often update Nolan's blog - but here is my yearly post (ha). Nolan is now 9 years old. We have had an insanely cool summer, visiting Quebec City, Tadoussac to see beluga whales in the wild, and hiking the via ferrata in Ausable Chasm.

Last December, we went to Cleveland Clinic to evaluate Nolan's hearing. At the time, there were some small changes in his left ear (his good ear), but the right ear was largely stable, ranging from 60-90 dB (moderate to severe). His aided thresholds were in the mild-moderate range.

His speech perception using live voice was 80% in the "bad" ear and 100% in the good ear. We knew we would need to upgrade his hearing aids from Bolero Q SP's if his hearing degenerated anymore, but also knew that if his right ear lost more, he might be in the range for a cochlear implant.

Over the summer, we were getting more "whats" and non-responses from Nolan. If he was looking at you, he could understand you. If he wasn't looking at you, he sometimes wouldn't detect that you had spoken. The left side still seemed to be getting sound, but the right ear appeared to have great difficulty. I did the Ling sounds for just the right ear, and the only sound he picked up was "ah."

I knew this meant he had lost additional hearing, and made the call to NYU's cochlear implant program. I wanted an evaluation to get him into the system just in case the right ear had dropped. If he didn't qualify, that would be fine - but I had suspicions that his right ear was losing residual hearing quickly.

They reviewed his audiogram from last December and said he wouldn't be a candidate with that audiogram, but considering his history we should bring him in for an evaluation. We had hotels booked and made the 7 hour drive to New York City (this drive takes longer than 7 hours with traffic, but is still well worth the trip).

NYU performed a full cochlear implant evaluation for Nolan. We first met with the LSLS (Listening and Spoken Language Specialist) and the audiologist who would be testing Nolan's hearing. We explained that we knew he was not a likely candidate, but preferred to err on the side of caution since he had been having difficulty lately and is in the fourth grade - we don't want his academics to suffer if the left ear decides to take a sudden dive and we lose his "good" ear.

The testing was broken up into three days. Each day, Nolan sat in the booth for 90 minutes and performed various listening tasks. Day 1 was the unaided audiogram. I don't have a copy of the audiogram yet, but my suspicions were confirmed. The left ear is largely where it was at Cleveland Clinic (though his speech reception has declined slightly), but the right ear is now profoundly deaf. His best threshold was at 90 dB in the low frequencies, dropping to over 100 dB in the highs (to no response at 8000 Hz). Nolan's speech reception was 48% in the good ear with speech at 85 dB, and was very poor in the right ear (24% at 95 dB).

Suddenly we were no longer "getting into the system," but entering true cochlear implant candidacy evaluations. Cochlear implant candidacy requires a lot more than unaided testing, so we would return the following day for testing in the aided condition.

Nolan really wanted to see the Statue of Liberty while we were in NYC, so we left the clinic to explore Manhattan.

 Taking a cruise to see Lady Liberty

At the World Trade Center on September 12 

We returned to the cochlear implant clinic the following day to repeat a lot of the previous testing, this time with Nolan's hearing aids on. The audiologist said words and sentences, but this time the volume was at 60 dB instead of 95 dB, since he had hearing aids on. His left (good) ear was fantastic - he was able to get a score of 84% in that ear. The right ear, unfortunately, only scored 36% for words and 27% for phonemes, even with a hearing aid on. His right ear, even in the perfect silence of the sound booth, just wasn't really hearing clear speech. His candidacy looked like a surer thing, but they wanted to try one more thing first: more  powerful hearing aids.

Nolan has super power aids which are supposed to accommodate a loss of up to 110 dB in the high frequencies, but he was at or beyond that level unaided. We needed to determine if the Naida UP (the most powerful hearing aid on the market) would bring his aided hearing into the desired range. 

We left the clinic to explore more of New York City, including the Natural History Museum. 

Dinosaurs!

Checking out Times Square

The third day of testing would be the determining factor for whether or not Nolan would qualify for an implant. Nolan had language testing performed (his language skills are insanely high, due to very early intervention and a mother that never shuts up   extensive exposure in the home environment.

He was brought back into the booth, this time with the Naida UP's. The UP hearing aid brought his left ear into the mild range for hearing levels and he obtained 100% speech recognition with it. We were thrilled! The right ear, however, did not fare as well. He was aided to the mild/moderate range with the Naida UP in the right ear. He did improve his speech understanding with the Naida UP, but was still missing half of the speech signal, at 60 dB in quiet (live voice).

This is a tricky situation - as he might do well with the Naida UP hearing aids, but his hearing loss is progressive, the right ear is already profound, and if we continue to wait the left ear will likely drop - leaving him with very poor hearing while trying to navigate the fourth grade. It is also likely the right ear will continue to drop, so we would be spending a significant amount of money (near $8000) for a very brief period of time. There is no telling when the left ear will drop, but it always trails the right ear by a few months to a year. We decided that if he was a candidate, we would proceed with implantation of the right ear. This will give him a "stable" ear (once rehabilitated) in case the left ear decides to take a dive on him in the future.

It was decided that Nolan would be a candidate for a cochlear implant in the right ear, and we were able to look at the three major brands who manufacture the device. Each brand is slightly different, but all serve the same function and operate in the same manner. It is a bit like buying a car - all are reliable and will get you to your destination, but the features vary from model to model. We took home a ton of literature from that appointment and returned to our home in Western NY to figure out which brand we want our son to have - for the rest of his life. While we know they all work just fine (cochlear implant centers wouldn't use a brand that didn't work), we need to determine what the best brand would be for Nolan.

We are returning to NYU tomorrow to meet with Nolan's surgeon. We are bringing Nolan's CT scan and MRI from when he was a baby so we won't have to repeat those tests. The process is long and involved, and we have to get insurance approval, the surgery scheduled, turn on the device, program the device, and do a lot of auditory-verbal-therapy to help his brain learn to use the signal generated by the implant. While it will take some time for him to adjust to it, his hearing will be better with the cochlear implant than it will be with his hearing aid. 

It's Been a Long Time

I haven't updated Nolan's blog in a long time. Primarily because I now work outside the home (and have little time for writing), and also because things have been going "hunky-dory." There is some exciting news on the home front: Nolan is growing on his own and we will be able to remove his feeding tube later this month. This is a wonderful development and we are absolutely thrilled. He'll never be a giant, but he is growing and otherwise thriving.

He plays soccer and loves it. He plays the piano and is flying through his lesson books - he has a natural talent and his fingers fly over the keyboard. He does wonderfully in the academic arena and is excelling in his third grade class.

His hearing, however, continues to deteriorate. This past spring, we had his PE tubes (grommets) removed and paper patches applied to try to heal his eardrums. Unfortunately, the right ear is stubborn with its infections and he had an infection in the recovery period. The paper patch didn't "take" in that ear.

The ear infections continue in that ear. It is a catch-22: they won't do a tympanoplasty in that ear until it is "dry," but the infections are not likely to stop, particularly since he has such a large hole in that eardrum. The nurse practitioner estimated about 15%-20% of his eardrum is missing. We had a hearing test done in an infection-free time and found the following:

The right ear is now in the severe range from 1000 Hz-8000 Hz. He does hit moderate at 500 Hz in that ear, but all other frequencies are in the severe range. The left ear is doing better, at a moderate-moderately severe level across the board. The conductive component is still there. The ENT does not believe it is due to the hole in his eardrum, though we cannot be sure. Our current ENT has decided to ignore the right ear and simply focus on the better ear. His better ear (the left one) is aiding to 25-35 dB (the "As" on the audiogram above). Our current audiology practice does not test the aided ears separately, so the worse ear is not evaluated.

Unfortunately, we are seeing some signs of speech "slippage" from Nolan. His high frequency sounds are less clear. Words like "kits" are becoming "kiss." He currently has (yet another) ear infection in the right ear. Buffalo cultures it each time, delaying the treatment time and causing that ear to continue to degenerate.

Since the audiology practices locally don't test the aided ears individually, it is hard to tell what, if anything, the right ear is perceiving. When we do the Ling 6 test with the right ear aided (taking out the left hearing aid), he only detects the "AH" sound.


I am concerned about the right ear "dropping off the map," so I contacted Cleveland Clinic for a second opinion. The audiology practices in Buffalo are not practicing according to the current best practice guidelines for pediatric audiology, and Nolan is not aided as well as he should be.

Cleveland Clinic is amazingly responsive and have a plan in place. We have an appointment for December 21 with audiology and the ENT surgeon there: we will see if there is anything that can be done for the right ear (since there is a perforation in the eardrum) and we will see what can be done with his aided hearing results in the sound booth. Cleveland does real-ear testing (Nolan has never had real-ear testing) and will test each aided ear individually. There are several options available to us, and the ultimate goal is to allow Nolan to hear better. It is possible his hearing aids can be cranked up to allow him to access more sound, or we may need a technology change.

In any case, there is our update (hey, it's only been nearly two years)!

Happy 6th Hearing Birthday

Nolan's sixth hearing birthday was yesterday. I would have posted a blog then.. but, truth be told, I completely forgot. I didn't remember until the audiologist called to confirm his appointment on the 14th, when I suddenly realized - hey, it is January 10th! Yesterday was the anniversary of when he first heard sound!

He has grown a lot since those first moments with his hearing aids. I'll never forget the day before he received his first hearing aids. It was a sunny day in January, and I was so anxious about the future. How would we communicate? Would he lose more hearing? Was anything else wrong with our precious baby? Would he talk? What would his life be like?

The next day, his ears were born. He could hear something without hearing aids at this point in his life. He had a moderate hearing loss, but all speech sounded like Charlie Brown's teachers. Hearing aids would bring those blurry sounds into focus - allowing him to hear all the sounds of speech.


My bobble-headed baby boy loved sound, and was a mere four months of age when we turned on his ears. Over time, answers came to my questions.

Would he lose more hearing? Yes. Nolan now has a moderately severe to severe hearing loss. He is likely to continue to lose hearing (albeit slowly). With technology, however, this isn't as much of a worry - he will always have access to sound, even if we have to change the technology down the road.

As for how we would communicate - well, we often have to tell Nolan to take a five minute break from talking. He is the most verbal person in our family. His receptive and expressive language is off the charts. He talks. He sings. He plays the piano. And sometimes the pipe organ.



He is one of the top readers in his class. I used to worry that he would need help with his reading - as it turns out, he is pulled out for a special reading group. This reading group, however, is for the advanced readers in the first grade.

Was anything else wrong with him? That question unfolded over the years. For several terrifying years, we agonized over what was going on with our little boy. The inability to grow, breathing difficulties, constant ear and sinus infections, amblyopia... every new symptom caused a wave of panic. Now that we have some answers, we are able to help him and avoid the vomiting attacks and other problems that come with dysautonomia (one of the unfortunate conditions that often comes along with Ehlers Danlos Syndrome). He is growing. His vision is now correcting to 20/30, and we have stopped the sinus and ear infections. Some things aren't "fixable," but he is stable and we know how to help him. I finally feel like we have a handle on things.

And as for what his life would be like.. well, it is simply regular. He goes to a regular first grade class. He plays on a soccer team in the summer. He is a bit of a daredevil and rides roller coasters that I will never, ever dare to ride. He calls himself the "green bullet" when he darts down the ski hill. He is a confident, articulate, rambunctious six year old boy.

Life is good.

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!

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!

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.

Sweat Test

Since Nolan has both digestive problems and respiratory issues (along with chronic sinus and ear infections), a sweat test was ordered to determine if he has cystic fibrosis. We went up to Buffalo Children's on Tuesday and checked into the lung center.

The technician cleaned his arms and placed the electrodes on his right arm. She added the Pilocarpine and turned on the electricity - the electricity generator looked like a giant car battery.

Nolan was very brave and sat still for the test. The technician said it feels like the pins and needles when your leg falls asleep - a very strong tingling sensation.

Nolan did say, "It hurts, Mommy," a few times, but he sat still for the test.

After five minutes of stimulation on his right arm, the area was wrapped and the same process was repeated for the left arm.

Once both arms were finished and wrapped, we went off to wait for about 30 minutes. Nolan's sweat was collecting into the filter paper as we waited in the small waiting room in the CF center.

After the thirty minutes had passed for each arm, the gauze was unwrapped and the filter papers were taken by the technician to be weighed and analyzed for the concentration of chloride in his sweat. We left and went to Chuck E. Cheese as a reward for being so very brave.

I called the pediatrician's office today to find out what the results to the test were. Sweat chlorides over 60 mmol/L are positive for cystic fibrosis, chloride levels between 40 - 60 mmol/L are equivocal (might have CF), and levels below 40 mmol/L are considered negative.

Nolan's sweat chloride level was 9 mmol/L - very NEGATIVE for cystic fibrosis.

I am glad we have ruled it out, as our treatment strategy would change if he had CF.

I am extremely relieved that his lungs are healthy and we won't ever need to worry about this again.