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). 

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.

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!

Ready for Surgery Tomorrow

Our second attempt at Nolan's revision supraglottoplasty is tomorrow. His ear infection seems to be under control (still on the Ciprodex and antibiotics), though his stomach has been acting up. Lots of fluke vomiting attacks and hurting tummy moments - he's had a day or two of "good eating," but is otherwise not doing well on that front. Hopefully his stomach will be in good spirits tomorrow morning.

We have the dog at the kennel, Matthew is with our friends for a couple of days, and we're heading to bed so we can be up at 3:30 am tomorrow. Hopefully his airway will be clear and the surgery will proceed without a hitch.

A Fantastic Christmas

Christmas was perfect this year - with the exception of Dennis catching influenza. The rest of us had our flu shots, however, and didn't get nearly as sick as he did.

The boys were up early, and extremely excited that Santa had arrived. We had a quiet morning opening gifts, and the boys took their new Green Machines outside on the street for a quick ride. There is no transcript, as the boys aren't saying anything - Nolan occasionally says, "Whoa."



Nolan's stomach has been doing a bit better. He's still not quite up to par with his eating, but yesterday he ate half a can of spaghetti-o's for dinner. He hadn't eaten anything the rest of the day, but hey - we take what we can get! We also went sledding at our local hill, and the kids had a great time going over a jump on the hill.

Here's to a happy and healthy New Year!

Expecting a White Christmas

It has been a very dismal fall, with no snowfall to speak of and an absolute lack of sunlight. A blizzard was moving across the Midwest, and I was very happy to inform Matthew that his seventh birthday should dawn with an abundance of snow.

When we woke, over a foot of snow had fallen. The kids spent all day Saturday doing this:

Nolan's stomach has decided to give us trouble again. He's coughing and "choking" a lot, which is typically a sign of reflux. He quit eating yesterday, and only had a few grapes and a piece of string cheese throughout the entire day. Today, he ate 2 doughnut holes in the morning and five hours later, he was still bloated.

He's back down to about 36 pounds on the scale, but the overnight feeds are keeping him from getting any lower. Hopefully his tummy will decide to start working again soon, because this really isn't much fun. He isn't sick in any way, just can't eat and very bloated. He also has white diarrhea again, which no doctor seems to care about.

Despite the tummy trouble, we're all resting, playing, and enjoying a quiet weekend before Christmas arrives!

Surgery Scheduled Tomorrow

Nolan had his ENT appointment on Monday. He has had an upper respiratory infection for a while, and his chronic sinus issues and unrelenting ear infection meant we had a bit to talk about.

His ENT looked into his ear and it was filled with thick fluid - this meant he needed a trip to the dreaded treatment room with its papoose board. This is never a pleasant experience, and I hate doing it. Nolan screamed, "Mommy, save me!" the entire time he was strapped down, and without his hearing aids he can't hear me (he can't see me, either, since he is sandwiched between the nurse and ENT).

In any case, we found out that he has a granuloma on his right tube, which is the cause of the infection. Granulation tissue often forms around tubes that penetrate any part of the body - eardrums included. The granuloma has to be removed, so he'll have his tubes removed on Friday. New tubes will be placed - this time they'll be "U-tubes."

We also discussed his stridor, which was never successfully treated via his previous surgeries. His ENT wants to take a look to see why the apnea and stridor are continuing, so they'll do a bronchoscopy and microlaryngoscopy while he's out for the ear tubes. For those who haven't had a bronch, this procedure is basically looking down his airway with a camera to see where the obstruction is coming from. He has laryngomalacia, and it is likely that his first surgery didn't fix the problem. I doubt we'll sign up for more surgeries - the little guy has been through many surgeries and none of them have really helped him. I doubt a second attempt will have long term success at fixing the stridor.

His ENT was very upset that he is receiving overnight feeds. She wants to put him on a drug called Reglan to see if that will help. I am not on board with that idea. The thing is, the overnight feeds are working. The Reglan may or may not work, and this drug has a black-box warning from the FDA. It crosses the blood-brain barrier and has caused tics, movement disorders, and other neurological issues - the longer you take the drug, the higher the risk. Since Nolan's digestive issues don't seem to be a short-term issue, I cannot allow my child to take this drug. Especially since less risky options (i.e. the overnight feeds) are extremely successful and won't cause brain damage.

She was rather upset that I don't want to use the drug. She started to go into a monologue about how the overnight feeds are being refluxed and causing sinusitis, which means she'll have to do a sinus CT scan and sinus surgery.

My ridiculous meter went off: firstly, he has a Nissen fundoplication. We recently had it tested with an upper-GI barium study and it is intact, with no reflux evident (even when flipped upside down). We know he isn't refluxing.

Secondly, this child has had chronic sinus and ear infection issues since... FOREVER. She has forgotten that he has already had a sinus CT scan - a year ago. First she blamed the sinus issues on reflux. Then on the C-Pap machine. Now she's blaming them on the overnight feeds.

I felt quite bullied into trying the Reglan. She actually laughed at my concern, astonished that I wouldn't give my child this drug. I went home after the appointment and did some more research, including asking around on forums of parents who have children with motility problems. Guess what? Many of the parents had to stop using Reglan for head bobbing, tics, lip smacking, and aggressive behavior.

There are other options for treating motility issues, and I would rather try a safer drug if we go the pharmaceutical route at all. Really, I'd rather avoid the drugs altogether and see what happens with some time once we get his weight stabilized.

In any case, we'll be driving up to Williamsville, NY at 6:00am tomorrow morning. Hopefully he'll be in-and-out, and we should be home by the early afternoon.

The Best Thing Ever

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

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

THIRTY SIX AND A HALF POUNDS.

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

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

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

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

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

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

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

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

I love it.

Finally Up and Running

The Home Healthcare Company (HHC) dropped off Nolan's supplies on Thursday, but we still had no formula. I'll cut the story short, but several phone calls to Rite Aid (our pharmacy) and our surgeon's office left everyone very frustrated. Rite Aid stated they needed prior authorization, our surgeon's office stated they had sent in the prior authorization to the insurance company, and Rite Aid continued to state they didn't have the prior auth.

Sometime on Friday I was so frustrated I started using my Angry Voice. Eventually, we discovered that the HHC had made two errors. Firstly, they were not to charge $500 per month for the pump and accessories, because we had met our deductible. Secondly, they were supposed to provide the formula, because the prior authorization had been set up between the insurance company and the HHC.

The nurse came on Friday afternoon, and I ran to Walmart to buy some over-the-counter Pediasure. It was $10 for three nights' supply, which isn't terrible. Still, that cost would add up over time, and the OTC Pediasure isn't the same as the formula ordered by our surgeon's office. They had ordered Pediasure 1.5, which is a medical food and has a higher calorie density per ounce. The HHC finally delivered the Pediasure 1.5 yesterday.

We ran the pump for the first time on Friday night. It went well, though the feed ran out early for some reason. The alarm went off at 3:30am and we had a steep learning curve ahead of us. Dennis had taped the connections together, because we were terrified something would come apart in the night. As it turns out, this is a bad idea - primarily because you can't get anything apart at 3:30am, and the frustration is worse when you are exhausted. The type of tape used was bad, too - we couldn't get it off Nolan's skin and struggled with it for quite some time. Once we got it off, I went downstairs to rinse everything out and came back to flush his button.

The second night, we worked out the logistics. We didn't use any tape on the connectors (the "Christmas tree" port from the formula bag fits pretty snugly into his Mic-Key extension). We used a tape with less adhesive to secure the tubing to his tummy, so it would come off more easily. I also primed a large syringe with water, ready to flush his tube once the feed was done.

Nolan woke at 2:00am and had to go to the bathroom. My brain was in an utter fog, so I grabbed the IV pole and followed him to the bathroom. I managed to hit our hall light on the way, and I am pretty sure I wasn't entirely conscious. I put Nolan back to bed and he cried out every 10 minutes because he was scared. I eventually put my blanket and pillow on the floor and dozed next to his bed for the next three hours. I couldn't really sleep, of course, but at least I didn't have to sit bolt upright next to him. He was having nightmares and really wanted some reassurance. I disconnected him at 4:45am and that part of the process went very smoothly.

We finally hit our stride on the third night. Yes, Nolan did wake and have to go to the bathroom. This time, however, I had a few more brain cells firing. I put the pump on "hold" and disconnected the boy instead of hauling the IV pole to the bathroom. He went back to sleep after this and I disconnected him when the formula run was done - it took all of two minutes.

We're getting into a routine with the "Grow Juice," as we call it. Nolan has actually asked to go to bed and get hooked up for the past two nights. He likes the idea of growing and has a lot more energy in the mornings. He used to be a rag doll in the mornings and very zombie-like. We used to blame that on the apnea (which could certainly play a part), but since starting the overnight feeds he has been waking without a problem in the mornings and has come bounding downstairs. The slow drip of nutrition overnight agrees with him.

We have not started his C-Pap therapy alongside his overnight feeds. I will try the combination tomorrow: we wanted him to get used to the "Grow Juice" without having the mask over his little face.

Here's to a growing boy!

Finally - Back to "Normal"

Oh, I love the Mic-Key button. It is so much nicer than the log PEG tube. Nolan wasn't happy (to say the least) about having the tube change done, but I am glad it is done and over with. The tape used to hold the g-tube in place while he was at school left a lot of adhesive residue. He's also allergic to adhesive (even the hypo-allergenic tape causes a reaction), so he has some open sores on his belly. His little tummy should heal up over the next few days and I'll use some baby oil or adhesive remover to get the "gunk" off.

He had some bloating last night and didn't eat dinner, but fortunately ate his breakfast this morning. The nurse comes this afternoon to help us set up his equipment.

Finally! New Button, Pump, and Supplies

Oh, thank goodness. Nolan's new Mic-Key button, pump, and accessories were delivered. Though I have to admit, it is strange to have an IV pole delivered to your doorstep.

It will be a relief to get the new button in place, so that he can ditch the long, old-school style PEG tube.

The nurse is coming tomorrow at 4pm to teach us how to set all of this up.

Now, I just have to call the pharmacy to see where his formula is!

Button, Button, Where is the Button?

Honestly. How hard can it be to get a mic-key button that your doctor ordered for your child? And formula and a pump when your child is failure to thrive?

Very, very hard.

I called our surgeon's office to see about the status of the Mic-Key button, since Nolan has been stuck with a full g-tube for nearly 2 weeks and is prohibited from gym, has horrible skin ulcers from the tape, and is getting granulation tissue from the pulling/rubbing of the longer tube.

Insurance, of course, put every roadblock in the way. The doctor's office sent over all of the weight data and medical information. It was finally approved, so the home healthcare agency (a new one, since our old one was useless when it came to g-tubes) is in the process of getting everything together.

Of course, insurance will only pay half of the cost of the formula, mic-key button, and pump. Health insurance is really only for healthy people, not for those who actually need medical care (despite having paid premiums forever). Half is better than nothing, but with all of Nolan's issues, the cost of his care is difficult. We're looking at new hearing aids ($4,000) and glasses (relatively cheap - $100) over the next couple of months. Not to mention several visits to specialists with a $40 copay each time.

In any case, I called the HHC this morning and no one answered the phone. I called a little bit later, and someone finally did answer the phone. They sent us to the person in the pharmacy, who handles deliveries. She said she didn't know about our status, so she was going to send us to the person who handles Nolan's case. Except that the person who handles Nolan's case is on vacation until Monday.

And the back-up person is on lunch. She might call me back if she feels like it. She might not.

I'll call back again this afternoon. The nurse said they were planning a delivery on Thursday, but I doubt it since his HHC "person" is out on vacation.

It has been 2 months since Nolan was diagnosed as failure to thrive. Two months and STILL no treatment due to our lovely medical system.

I will call back this afternoon in a dogged determination to get something done for my son. In the meantime, I have ordered a button online. Just like I did with his C-Pap masks. Sometimes you have to take matters into your own hands.

Absolutely Exhausted - Good News and a Fixed Tubie

We woke at 4:30am to start the drive up to Rochester for Nolan's upper GI. It is slightly over three hours to get to the hospital. We were checked in and in the waiting room by 8:30am.

Nolan wasn't feeling all that well and wouldn't walk. I was a bit concerned about the Foley at this point, and was very glad we had an appointment immediately after the upper GI.

Strong Memorial is a much better hospital than Buffalo Children's. The difference is astounding. At WCHOB, parents are separated from their children for all x-rays. At Strong, I was able to don a lead vest and stay with my child during the procedure. Instead of a crowded waiting room with broken toys and waiting for a ridiculously long period of time, we were in a quiet pediatric waiting area and were seen within minutes. They let him keep his hearing aids on for the test, since they were only x-raying his belly. I don't think I'll ever have another test run at WCHOB again. It's worth the extra 90 minute drive.

Nolan drank the barium and we got many images. The radiologist then told me the results, right in the x-ray room.

BIG SIGH OF RELIEF.

His fundoplication is intact. The vomiting is likely due to his delayed gastric emptying/gastroparesis. When his stomach decides to shut down and gets too full, then he will reflux past the fundoplication. This isn't due to a failure of the operation, however - this is just something that might happen periodically.

We also saw that the Foley catheter had migrated into his small intestine. He was in pain and we needed to get the Foley replaced with a g-tube quickly. We headed up to the sixth floor where the most wonderful nurse in the entire world (I'm not kidding) set aside plenty of time to help our family.

Nurse J knows that our current Home Healthcare Company (HHC) sucks. They don't do g-tubes (we were set up with them for C-Pap supplies initially). She looked up a good HHC in our area and is setting us up with the new company. She is also going to get us a pump and formula to start overnight feeds.

She also said we can ditch the dietitian, who was frankly the opposite of helpful.

We talked about bolus feeding (giving the Pediasure via tube in three doses), but since Nolan bloats with that amount of volume, I really would prefer to try overnight feeds. We would really like to keep him eating "regular" food, even if it only constitutes 1/2-2/3 of his diet.

I showed the nurse pictures of his bloating. She asked if he had had a gastric emptying scan (GES) recently, and I said that he had one at the age of 2, but hadn't had one since. We know there is some dysmotility going on - his esophageal bolus transit time is slow and the test in 2009 showed delayed emptying, plus he has the bloating and frequent bouts of uncontrollable diarrhea. The fantastic, amazing, wonderful nurse J suggested we might think about doing another GES. I am so glad someone is thinking about why his tummy is bloating/he won't eat instead of just trying to patch the problem.

If his emptying is normal, then maybe we can push the feeds a little more and help his tummy expand to accommodate the extra food. If his emptying is abnormal, there are other things we can do.

She changed out his Foley to a Mic g-tube. This was rather traumatic for Nolan, so we were glad to be past it and on our way out the door. Nolan was really unhappy for a while, poor kiddo. He was still upset over having to go through another tube change, and was also upset he didn't get a "button." We taped the tube to his skin really well, and that seemed to help him (he doesn't like the sensation of the long tube rubbing against his shirt or skin).

The g-tube is a standard PEG tube - the grandfather of the modern buttons. These are much cheaper than the button style (the hospital pays about $12 for them - we'd pay about $35 if we bought one on-line). The buttons are over $150 to buy online (and our former HHC was trying to charge us over $300 for the same item). Our insurance will cover the buttons now that we are feeding with them, so we should get a button in the mail soon.

We went to Panera Bread for lunch and Nolan was feeling much better.

We managed to really get the tube secured with tape. The life-saving Nurse J gave us an entire roll of tape before we left (really, I might send her flowers).

We ate lunch and then headed home. We made it home by 3:30pm, which is good because we have a birthday party tomorrow.

My house isn't clean. I don't have much planned or organized. Such is the life in a week of crazy - but hopefully our friends love us and won't care that we aren't having a "fancy" birthday party. Sometimes, it is enough to get together and simply enjoy each other's company on a happy day.

Emergency Foley When a G-Tube Falls Out

Oh my, it has been a week. Dennis and I managed to change out the ruined Mic-Key button with the emergency Foley catheter we had on hand. We learned a few things during the process.

1. People will give you weird looks if you go to a store and buy ace bandages and KY Jelly.
2. The resident on-call will tell you to change the Foley catheter, but omit vital steps that should be contemplated BEFORE the said change takes place.

The Mic-Key button was easy to remove - I tried to pull water out of the balloon and the syringe only returned gastric fluid. We pulled out the Mic-Key and saw why - it wasn't a slow leak, but the entire balloon had ruptured.

The balloon is on the end of the stem above, and you can see how it is split wide open. I think there was an intrinsic weakness to the balloon since I only added the recommended 5ml and it obviously had a catastrophic failure.

Anyhow, here are the important things the resident failed to mention:

1. The Foley has no clamp. Once you insert it, the tube is open and gastric contents are able to flow out. BEFORE you insert the Foley, cut a clamp off one of your extension sets and slide it onto the Foley. We didn't do this ahead of time, but managed to crimp the line with one of our extension-set clamps anyway - it isn't as secure as if it were on the catheter, but it will do for a short period of time.
2. Tape the Foley catheter up the belly. This allows gravity to help keep stomach contents where they belong.
3. Tape the Foley catheter well, so that it can't slide back into the belly. If it isn't taped well, it can slide back into the belly and the balloon can block the pylorus. If this happens, the child may start vomiting.

I found these problems (numbers 1 and 2) as we were doing the change. Fortunately, Dennis was able to take care of Nolan while I ran to the world's best medical advisers: other parents of complex kids. Within seconds, these amazing Parents of the Internet told me how to clamp the Foley and to make sure it was taped up. 

The third bit of critical information came from the nurse this morning. I called the clinic this morning and the nurse called back. We're set for an upper GI study at 8:45am in Rochester on Friday, so we'll go ahead with that study, then head up to the clinic where the nurse can change out the Foley catheter for a Mic-Key button.

In the meantime, we have a Kindergarten and First Grade open house to attend. Nolan is happy and feeling just fine, despite being taped and ace-bandaged to the hilt. His birthday party is on Saturday. On Sunday, we may collapse from exhaustion. 

I am mightily relieved that by this time tomorrow we should have a boy with a nice, secure Mic-key button in place and knowledge that his fundoplication is (hopefully) intact!

Because We Really Needed More Drama

Nolan's mic-key g-tube was three months old, and the balloon that holds it in place sprung a leak. Since the tube was falling out, I replaced it this morning with a new one.

I called the Home Healthcare Company (HHC) that takes care of Nolan's respiratory equipment (and has the prescription for the g-tube replacements) to order another new mic-key to have on hand as back-up. The HHC stated they are no longer doing mic-key buttons and referred us down to Hamot medical in Erie, Pennsylvania. I called Hamot, and they stated they are not taking new referrals, but to have the prescription sent to them and they would send it to Pittsburgh.

I called the surgeon's nurse (who must be rather sick of hearing from me) and told her the situation. She said she'd send in the prescription. She also asked if we had heard from radiology (we hadn't). She said she'd follow up on that again (they still haven't called).

In any case, I went to Nolan's kindergarten parent meeting tonight. Since Matt was in kindergarten last year, none of the information was new - but it was good to see his new teacher.

I got home and Dennis jetted off to hockey. I put Nolan in his pajamas and noticed that his new tube was hanging half-way out of his belly. Not good. I checked the fluid level and pulled out stomach fluid. The balloon has burst. Since I didn't have another back-up on hand, this was not a good situation.

I taped it in place and called the surgeon's emergency line. The resident eventually called back and instructed me to remove the mic-key button, put the emergency foley in, and tape everything in place. I'm to call the clinic tomorrow and try to get him in for a button change in Rochester.

I have a feeling I'll be making a three hour drive tomorrow - unless it can wait until Friday (which was when we were supposed to have his upper GI done anyway, if radiology can manage to call and schedule it).

Dennis is now at the store buying some KY jelly (lubricant to get the foley in) and an ace bandage to hold everything in place.

My blood pressure is through the roof.

In Which I Nearly Lose My Mind

With the bloating from the Mighty Milk causing Nolan pain, bloating, and diarrhea, I called the dietitian's office and left a message. I also sent a picture of his bloated belly to our surgeon, as this plan simply didn't seem to be working.

Besides the bloating, Nolan has stopped eating solid food with the Mighty Milk. He will eat breakfast, but lunch and/or dinner are not on the menu - he's simply too full and bloated to eat. Call me crazy, but chocolate milk is not a nutritionally complete meal option for a five year old child.

Our surgeon wrote me back and was concerned. The dietitian called me back yesterday morning. My concerns, and her responses, are below:

1. He isn't eating food with the mighty milk. Her response: keep at it and make him drink it. His stomach will grow with time.
2. He is bloating and uncomfortable. I am stressed because he isn't eating and he is in pain. Her response: keep at it, don't get stressed. If you get stressed, he will sense it and use food to control you.
3. We don't have the script for DuoCal. Her response: I decided not to give the script to the surgeon. I sent it to his pediatrician instead. His pediatrician knows him better.
4. He starts school in one week. I don't want him to miss instructional time due to leaving class for extra meals during the day. Her response: I'll write a letter to let him leave the classroom as much as he needs to, so that he can get food in the nurse's office.

I was so upset once I hung up the phone. She wasn't listening to the concerns at all - she isn't the one watching him bloat and have horrid diarrhea. She isn't watching him leave his lunch and dinner untouched due to the milk. She doesn't seem to care that he'll miss time in the classroom to accomplish her plan. 

Before meeting with the dietitian, Nolan didn't have any food issues. Sure, he didn't eat quite enough of it, but he likes a lot of different types of food. He ate salmon the other night, for goodness sake! With her plan, he is learning to drink only milk, and is getting sick off it. Instead of supplementing his meals, the mighty milk is replacing his meals. 

In fact, we can't even get 2 cups of mighty milk into him during a day. For the past two days, he has only had one cup. Yesterday, he refused to drink more than a quarter of a cup. It makes him feel bad, and he isn't stupid. He isn't going to drink something that makes him feel sick. The mighty milk is just a bad idea for him.

It isn't working. Plain and simple.

My intuition flickered at her note that she was now sending his prescriptions to our pediatrician. I had told her (in our initial meeting) that his pediatric group rotates doctors, so he often never sees the same one twice. In fact, he hasn't seen his "official" primary care doctor in approximately three years, as a nurse practitioner has been the one to see him for at least the past two well-child visits. Her comment that his "pediatrician knows him better" tipped me off that the surgeon might not agree with her assessment. She was purposefully avoiding talking to the doctor who had seen Nolan the most frequently over the past six months. Something wasn't right.

I decided to call the surgeon's office and schedule a follow-up appointment for the end of September, since that is when Nolan's "four week oral trial" will be finished. The office staff could tell I was a bit stressed, so I told her (in a slightly higher pitch than normal) that "Nolan-is-bloating-and-has-diarrhea-and-the-mighty-milk-makes-him-sick-and-I-don't-know-what-to-do-and-he-threw-up-in-California-and-I-think-he-might-have-reflux-again-and-I-am-really-stressed-out!"

I feel badly that she ended up with the call from the crazy, stressed out mommy. She was wonderful, though. Instead of telling me that I was silly, or overreacting, she took care of it. She told me that she would put him in for September, but also that she was going to page the nurse. The nurse would call me back.

I still felt a bit silly, as it wasn't really an emergency, but something just wasn't sitting right. The dietitian had insinuated that Nolan's intake was a behavioral issue. Having lived with the full brunt of Nolan's digestive tract for the past five years, I heartily disagree. 

I was walking out to the car to go to Nolan's sleep neurologist appointment when the phone rang. It was J, the surgeon's nurse. She was a great calming force.

"What's going on, Mom?"

I gave her the lowdown, from the issues the mighty milk was causing to the vomiting attack in California. 

By the tense tone in her voice, I knew she wasn't happy with the dietitian. Apparently, the dietitian had been told to order a pump, and refused to do what the doctor ordered. I told her,

"I might be overreacting, but I'm worried that the delayed gastric emptying is causing a big problem. And I'm worried that the reflux is back, with the vomiting being so severe."

She simply said, "This is why we wanted to do overnight feeds. Some children cannot physically, medically take in the right amount of food to grow. This isn't a behavioral issue, this is a child with a known history of severe GI tract issues who had a fundoplication and needs nutritional support."

As a side note, the dietitian also lied to me. She told me that overnight feeds were not possible with the C-Pap. After conferring with other parents who have children who require both, I found that this was patently untrue. Children CAN receive overnight feeds and use C-Pap (or BiPap) at the same time - as long as a nasal mask is used in case they vomit. His sleep neurologist confirmed this at our appointment later that day.

I especially loved the nurse because she had a plan. I didn't have to continually fret over something that wasn't working. Her plan is:

1. Do an upper GI barium to ensure the fundoplication is intact and functioning. If it isn't, this is the cause of his vomits and feeding problems. If it is, then we can relax about that portion and focus on step #2.
2. Get a pump and do overnight feeds. This will allow him to eat normally during the day, won't cause him to miss classroom time, and will allow him to grow with a nutritionally complete formula (as opposed to chocolate milk).

The upper GI will be done this Friday. I am waiting for the hospital to call with the time. They can put the barium through his g-tube, so the procedure will be extremely simple for him. In the meantime, he is eating regular food and is happy to stay away from the horrid mighty milk.