A rock and a (regulatory) hard place.*

Watching the state of science over the past 4 years has been simultaneously hope inspiring and heart breaking. Two years ago, I reported that autologous stem cells were being used to cure human corneal blindness. Since then, hundreds of people in India and pockets around the world have benefited from the technique to use a patient's own adult stem cells to successfully cure corneal blindness without risk of rejection! But, this surgery is not available in the United States. It won't even be in clinical trial for a number of years.

Dr. Graziella Pellegrini (interviewed above) developed the stem cell transplantation technique as reported in the New England Journal of Medicine.  
You can probably hear the gnashing of my teeth from wherever you are reading this.

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*This is a previously unpublished post from May 2012.  At that time, two ophthalmologists recommended that Bertrand undergo surgery to help with corneal scarring.  This surgery, tarsorrhaphy, is disfiguring.  The eyelids are partially sewn together to narrow the eye opening, thus reducing corneal exposure.

Dear Ryan was among the first google results for tarsorrhaphy.

I was heartbroken. The state of medical science left me in despair.  Bertrand deserved better and I knew it existed, but it was not yet approved in this country.

Due to corneal scarring, Bertrand has reduced corneal sensation and doesn't blink.  If his corneal sensation were restored, we are confident he would be able to blink and retain sufficient moisture on his own.

Unfortunately, a corneal transplant isn't a realistic option until after he reaches adulthood, as children have a ridiculously high rate of corneal transplant rejection.

Yes, we considered taking him to India for the autologous stem cell surgery.

But, short of that, we begged Bertrand's doctors to give us a shot at fighting the corneal erosion.


They did.  ...and it worked.

Today, August 19, 2013, at Bertrand's ophthalmology appointment, the scar on his left eye is no longer visible, and the scar in his right eye is significantly reduced.

Bertrand no longer has to see the doctor every 3 months--just every 6 months.

This miracle of sight is thanks to lotemax (steroid) ointment 3 times a week, systane ointment or refresh drops every 2 hours (minimum), humidifiers, and last, but not least, julbo sunglasses, which reduce ocular surface evaporation and look awesome at the same time.

It's long past time I should publish this, and celebrate.  :)

Tonsillectomy and More

In an effort to ameliorate his sleep apnea, Bertrand underwent surgery to remove his tonsils and adenoids today.  He also received dental and eye exams while under the general anesthesia.

(I am quite proud of this feat of medical scheduling!)

Bertrand is still sleeping off the anesthesia, but initial reports indicate that everything went well.  He will be monitored inpatient overnight as a precaution after the surgery.

Discussions with all 3 doctors were interesting.  Bertrand's teeth looked really good and his molars were sealed, as we expected/desired. His eyes were another story.  While we've been aggressive with lubrication, the corneal scarring is creeping up over the pupil.  Bertrand could go blind.

We will commence a steroid protocol for his eyes to help reduce the inflammation and (hopefully) the scarring.  We will also redouble our eye lubrication efforts.

Moisture Chamber Goggles

Bertrand will model these bad boys tomorrow. Won't he look cool? :)
Bertrand's new ophthalmologist recommended moisture chamber goggles to help with his dry eyes. Moisture chamber goggles tend not to come in pediatric sizes and the ones that do run upward of $100. This is too much money for something that might not work for Bertrand. (The Tranquileyes were a dismal failure, by the way.) So, we decided to make some moisture chamber goggles at home.

We wanted the goggles to be comfortable. Swim goggles formed a good seal but would leave marks & didn't look comfortable. Snow goggles had comfortable padding but air vents. The vents are there to prevent fogging (moisture build-up), but for Bertrand that is what we want! So, we bought kid's snow goggles & cut black electrical tape to block the air vents. If the goggles work well, we'll buy a few extra pairs in the after ski season sales to modify as well.

Open vents.

Taped vents. Classy.

No steps backward!

With Bertrand's medical care, I often feel that for every step forward, there is at least one (or more) steps backward. This week was a good week because there were no steps backward!

Orthopedics:

Bertrand saw the chief orthopedic doctor at Shriners hospital yesterday. We got good news:

• Bertrand's tone is a bit low but good.
• Bertrand's subluxated hip has no tightness and full range of motion, so he doesn't anticipate any kind of intervention (surgical or injection) being necessary!
• Bertrand's spine can still straighten when laying down. There is only a 30 degree curve when sitting slumped--which anyone could have if they slumped.
• Bertrand should only wear his back brace if he'd otherwise be sitting slumped for a prolonged time. Strengthening his back and abdomen muscles is the best prevention.

Ophthalmology:

Bertrand saw the young, insightful doctor again, this morning. She'd been thinking about him:

• Bertrand failed the corneal sensitivity test. THREE times.
• Bertrand continues to require a LOT of lubrication.
• Bertrand should get a pair of moisture chamber goggles for daytime use.
• Bertrand should try tranquileyes for nighttime use. (Testing this tonight!)

Neurology:

After another round of phone calls, I FINALLY got someone to schedule Bertrand's EEG. The soonest available was February 24 - 26, which avoids missing school, so I took it.

The Happy Mystery

Bertrand is the medical mystery that keeps on giving. Here are two of his most recent puzzles.

The Case of the Disappeared Blink.

At a recent ophthalmology appointment, a doctor noted that Bertrand doesn't blink. His lack of blinking is new. This appears to be the new cause of his corneal erosion. While Bertrand produces tears and can cry now, his corneal erosion has persisted. I immediately flashed to this post by my friend, Carrie, about her daughter Hannah's loss of blink reflex. Lack of blinking is a symptom of Parkinson's disease, with which Bertrand's condition shares some similarities. Blink rate has a direct correlation with dopamine levels. In low dopamine conditions such as Parkinson's, individuals may barely blink. In high dopamine conditions such as schizophrenia, individuals may have a very high blink rate. Certain medications have as a side-effect dopamine reduction and resulting blink reflex loss. The ophthomologist, citing possible drug interaction, decided to write a note to inform Bertrand's neurology team of the finding.

With the neurologists both M.I.A. (yup, the new one is equally unresponsive and Bertrand's EEG has yet to be scheduled), I called my dad. He played the reasonable Watson to my flighty Sherlock. Bertrand's CSF dopamine has tested normal. His movement disorder doesn't present like a low dopamine one. However, corneal sensitivity is what triggers the blink. Both Bertrand's corneas have scarred. Scar tissue is not sensitive. Perhaps it is that simple? We like simple and non-invasive. Bertrand will undergo a non-invasive corneal sensitivity test at his next ophthalmology appointment.

(Regardless, the course of action is lubrication, lubrication, lubrication. Drops don't cut it. Big B is a gel and ointment man. Good times.)

The Happy Mystery

Since Monday, Bertrand has been happy. REALLY happy. Like, perhaps the-happiest-he-has-ever-been-in-his-entire-life happy. Obviously, this is a good thing. And, alert--he stopped taking naps during the day. That is HUGE. However, we don't know what triggered it. And, it bothers me like you wouldn't believe! I lay awake at night trying to figure it out. With Bertrand, we take nothing for granted. If I don't find the root, then I'll keep waiting for the other shoe to drop. We may accidentally mess it up. Or, we could miss the opportunity to make him even happier by doing more of whatever we did right. Neither is acceptable to me. There are a lot of variables, but here are some candidates:

• Stopped administering ursodiol (Friday afternoon)
• Switched to a more complete multivitamin
• Resumed application of the B12 patch
• Changed brand of l-carnitine supplement
• Restarted dairy after 8 weeks since he's not allergic (Sunday night)
• Added whey protein smoothies for lunch
• Started riding school bus (Just kidding! That was Tuesday)

Despite our beloved gastroenterologist's claim that ursodiol is a fairly benign bile salt, it is my primary suspect. This case remains open.

Nystagmus

At Bertrand's ophthalmology appointment he was diagnosed with nystagmus.

Corneal Erosion: Genetic Condition or Side-Effect?

Victoria "styling" Bertrand's hair this morning.

This is just a quick update (read: vent) on what I've been up to regarding Bertrand. Since his keppra wean, he has been having the least number of seizures since ACTH! As a result, he is also more vocal and interactive. Unfortunately, the seizures that he IS having are sleep-related and disturbing to watch. More on that later.

All summer Bertrand's corneal erosion has not improved despite eye drops or ointment every 2 hours. In case you are wondering, that is $50 worth of eye goop every week. It is also a very upsetting process for Bertrand and time-consuming for us. And yet, I am plagued by the feeling that I am losing the battle to save his eyes. If he is this bad now, in the summer, with a humidifier in his room, how bad will it get in the dry Utah winters?!

I've been feeling defeated. It's not a feeling I am comfortable with, so I got to thinking...

It was not always this way. While Bertrand didn't cry tears (alacrima), he wasn't battling constant eye infections and corneal erosion. This all started back in January, before depakote, but a month AFTER ADDING LAMICTAL. A quick google search confirmed that dry eyes are a common enough side-effect of lamictal.

After leaving 2 messages with neurology and 2 emails to her, I finally heard back from Bertrand's neurologist last night. I feel like she blew me off. Bertrand's eyes and seizures could wait until she could see him at his September 20th appointment.

NO. WAY.

My baby boy has suffered long enough. Corneal erosion is extremely painful. As per my last discussion with his ophthalmologist, Bertrand is facing surgery to sew his eyes partially shut to reduce the amount of surface area and thereby the moisture he loses by them. As it is, his corneal scar is occluding his pupil and damaging his vision.

This is unacceptable.

Yes, seizures suck, but Bertrand needs to be seen as a whole. It is possible that depakote may be enough to control his seizures. Or maybe lamictal isn't to blame and he does need the surgery. Either way, we need to test and see because Bertrand deserves this chance.

I've spent the morning fighting for my boy, calling in the "big guns". Wish me luck.

UPDATE:

This afternoon, I spoke with Bertrand's Pharmacist (the one who once opened the pharmacy on a Sunday just for us, after we forgot to pick up his medication). According to him, Lamictal can cause dry mouth and other ocular issues, but "dry eyes" as a symptom were not in his literature. He recommended some eye ointments/drops that were new to the market. He also recommended a prescription about which we should speak to Bertrand's ophthalmologist.

From my own research, I learned that Lamictal is a (modest) inhibitor of the enzyme dihydrofolate reductase, which completes the two-step activation of dietary folate into the bioactive form, tetrahydrofolate. A B-12 deficiency would increase the adverse effect potential of the Lamictal. Dry eyes can be a symptom of B-12 deficiency...

So, TONIGHT, Bertrand starts some new sublingual vitamin B supplementation (THANKS, AMY!) and new eye drops. ;) Bertrand will see his pediatrician about all of this on Thursday. His neurology appointment was moved up a little earlier to September 1st. Grr.

Corneal Erosion

As you can guess from the title, what Bertrand has been diagnosed with? Yup, corneal erosion. Due to his alacrima (lack of tears) his own eyelids are acting as sandpaper across his corneas, wearing them away and exposing the corneal nerves. This is an extremely painful condition.

Typically, symptoms include recurring attacks of severe acute ocular pain, foreign-body sensation, photophobia (i.e. sensitivity to bright lights), and tearing often at the time of awakening or during sleep when the eyelids are rubbed or opened. Obviously, Bertrand couldn't tell us about the pain, have the tell-tale watering eyes, or rub his eyes, hence delaying the diagnosis.

The erosions on both eyes were finally found by his ophthalmologist using the magnification of an ophthalmoscope, along with a fluorescein stain and a blue-light. Mis-diagnosis of a scratched cornea is fairly common, especially in younger patients.

Given that episodes tend to occur on awakening and are managed by use of good 'wetting agents', approaches to be taken to help prevent episodes include:

Environmental

• ensuring that the air is humidified rather than dry, not overheated and without excessive airflow over the face. Also avoiding irritants such as cigarette smoke.
• use of protective glasses especially when gardening or playing with children.

General personal measures

• maintaining general hydration levels with adequate fluid intake.
• not sleeping-in late as the cornea tends to dry out the longer the eyelids are closed.

Pre-bed routine

• routine use of long-lasting eye ointments (e.g. lacrilube/Polyvisc) applied before going to bed.
• occasional use of the anti-inflammatory eyedrop FML (prescribed by an opthamologist) before going to bed if the affected eye feels inflamed, dry or gritty

Waking options

• learn to wake with eyes closed and still and keeping artificial tear drops within reach so that they may be squirted under the inner corner of the eyelids if the eyes feel uncomfortable upon waking.

Follow Through.

Bertrand shows-off his new haircut!

Bertrand had another ophthalmology follow-up appointment today. His eye infection is finally cleared-up! Both eyes look great, with the small exception of the scar on the cornea, occluding part of his pupil, left from the infection. We hope that the scar fades in the next 6 months. Bertrand will follow-up with the ophthalmologist in September, and we'll discuss options for remedying the corneal scarring then, if the situation merits it.

His doctor was exceedingly complimentary about how well Bertrand's eye actually looked. Apparently, he had expected a worse result? I always feel confused and uncomfortable when doctors, or people in general for that matter, compliment us on doing what we're supposed to do for our child. Did he really expect me to NOT put the eye drops in his eye?! Even if it was a fight every single time, every 2 hours, for about 3 weeks?

Bertrand is MY SON. I'd do anything for him, even if it is hard on the both of us. From wrestling antibiotic drops into his eyes, to driving him somewhere (school, doctors' appointments, or therapies) every single day of the week, to flying him across the globe for experimental procedures, to holding him down while someone injects a toxin into his muscle to treat spasticity, IF it is in Bertrand's best long-term interest.

Things that have long been in Bertrand's best interest are weight loss and weight bearing. Sure, plenty of things (steroids, broken bones, travel, etc.) got in the way, but the time for excuses has run out. There will always be excuses. We need to JUST DO IT. Visitors to the blog will see little boxes on the righthand side entitled "Weight Challenge" and "Stander Challenge". Weight will be logged on Mondays, and stander time will be logged daily.

Please wish us strength, perseverance and some luck!

Just because.

I took this video last week. B knew I needed cheering-up. This helped a lot.

Bertrand had ophthalmology and neurology appointments this week.

Ophthalmology:

Bertrand's right eye is still inflamed. There still appears to be some infection. Since it is most likely viral, he was finally taken off the antibiotics and we're hoping his body can fight the rest off on it's own. He has another follow-up in a week.

Neurology:

Bertrand's neurologist was filled-in on our trip to Cleveland, Bertrand's most recent MRI, pending genetic testing, his EGD, dental, ortho, seizures and more. Because of Bertrand's increased seizures, we've agreed to start Bertrand on Depakote sprinkles in a week (in order to lower his Lamictal first since there is interaction between both medications) and then draw medication & liver levels during his sedated EGD procedure. Bertrand's follow-up is in May.

Dance Sensation! And More Sedation...

I just HAD to share photos of Bertrand at his dance class today. He had such a blast! His wonderful aide, Ms. E, rigged up a special carpeted rolling platform just for him! He LOVED it. Bertrand was relaxed & compliant (allowing Ms. E to help him reach for the sky, touch his toes, clap his hands, etc.) for most of the class, and toward the end he really enjoyed shaking his bumble bee shaker. Look at his grin while he "buzzed"! Precious! :)

Bertrand also had a dental check-up today. His teeth aren't looking good. His bottom front teeth in particular are so ground down that there is big concern for the nerves. He may need caps added to those teeth to preserve them. Bertrand will have to undergo a more thorough dental exam, cleaning & x-rays UNDER SEDATION. Yes, most people go under general anesthesia maybe 4 times in their entire lives, but Bertrand? Four times in a little over 2 months?! Not cool. I put all my special needs mommy ninja skills to work this afternoon and managed to arrange his EGD & dental exam together.

This means I am wiped out! 9PM bedtime, here I come.

PS - Bertrand's eye is still improving. He needs another week's worth of antibiotics and has ANOTHER follow-up with the ophthalmologist next week. We'll both be happy if we never see a bottle of eye drops ever again.

February won't cut us slack.

Bertrand coming out of anesthesia in post-op.

He'll be going under AGAIN later this month for his endoscopy.

That's general anesthesia 3 times in little over a month, but who's counting?

After the medical triathlon we'd been running the past several months, we expected a break in February--a chance to settle into a routine with Bertrand's new preschool and therapies. No such luck. Here's a quick recap of Bertrand's week.

Ophthalmology

After being diagnosed with a corneal infection on Monday and going through Same Day Surgery for a biopsy and diagnostics, Bertrand was placed on a full spectrum antibiotic. At his follow-up appointment on Wednesday his eye was pink rather than red and the Doctor pronounced him improved but "not out of the woods". Since then, Bertrand's eye has improved both in color and the white puss patch covering his pupil has shrunken! He has a follow-up on Monday morning where, after a weekend of continued recovery, we hope he will receive the all-clear to resume school, therapies and other outings.

Neurology

We received the medical reports from Bertrand's visit to Cleveland Clinic. (I'll try to condense these in a separate blog post.) Bertrand uneventfully completed his Zonegran wean! He also unintentionally completed a wean from the Ketogenic diet without incident, but we are still holding our breaths. We plan to keep steady over the next 1-2 weeks to give his body time to find its balance after the weans, infection and whatnot. We're waiting to hear back from Bertrand's neurologist at Primary Childrens' Medical Center in regard to initiating a Keppra wean or an increase in Lamictal, but I'll probably have to ping her again within a few weeks. We also have a follow-up with her in early April.

Gastroenterology

Bertrand's gastroenterology appointment on Thursday was the first time he's been congratulated on his weight! He is down to 85 percentile! The GI doctor was also pleased with Bertrand's continued reduction in liver function values. He tentatively approved valproic acid (Depakote) treatment for seizures contingent on continued carnatine supplementation. Given Bertrand's vomiting black chunks (most likely blood clots) during his sickness last week, the doctor would like to conduct an endoscopy to check for stomach ulcers and check for pancreatitis. Both these conditions are very common in "neurologically complicated children" like Bertrand given the number and quantity of medications. New labs will be drawn for liver function, etc. during the endoscopy, and I am waiting to hear back on the scheduling of this proceedure. Assuming--fingers crossed--that the endoscopy is unremarkable, we will follow-up with GI again in June/July.

Genetics

We should be hearing the results of Bertrand's genomic sequencing at Duke in early March.

Bertrand looking a bit shellshocked but grateful to be out of surgery.

Corneal Infection

The cloudy patch forming over Bertrand's pupil.

Bertrand at the ophthalmologist's office.

Bertrand spent the weekend nursing a very red eye inspite of being on antibiotic drops. In fact, a cloudy patch started forming over the eye. Since I have a black belt in medical google search, this caused me a great deal of concern. I made a point to get Bertrand seen by his ophthalmologist first thing this morning.

Upon examination, Bertrand's ophthalmologist was grave. There is a severe infection in Bertrand's cornea. He couldn't tell the nature of the infection (bacterial or viral) or if it had progressed to the point of corneal perforation. He did however emphasize the seriousness of the condition (in 3rd world countries people lose the eye and even in 1st world countries there can be permanent vision loss) and immediately scheduled Bertrand for same day surgery.

At around 5pm today, Bertrand will undergo an anesthetized examination, biopsy (for a culture) and other possible intervention--like removing a particle if there is one. Bertrand was started on Zymar, a full spectrum 7-day antibiotic. He is not allowed to attend school or therapies until he is recovered. And, we DO expect him to recover. We think we caught the infection just in time.

Bottomline, we'll keep everyone posted. Bertrand will be very angry about the withholding of food & water until 5pm (for anesthesia), but other than that he should come out of everything okay. Oh and, Bertrand's fine motor skills have improved to the point of giving himself corneal infections. ;)