Parent Education Night: Seizure Medications

Pediatric Neurology Parent Education Night: Seizure Medications

Friday, Februay 24th at 6:00 pm

Primary Children's Medical Center Auditorium - 3rd Floor

Parents are invited to participate in a question-and-answer format presentation about seizures. Topics may include diagnosis, disorders, prevalence, medication and others. This is a chance to ask any questions you may have and to meet other parents who have children with seizures.

Discussion Lead by a Panel of Experts:

• Colin Van Orman, MD
• Jeffrey Ekstrand, MD, PhD
• Denise Nielsen, MD
• Shari Combe, PA-C
• Parent Advocate Marin Bywater, LCSW

Sponsered by the University of Utah Pediatric Neurology Division and Medical Home Demonstration Project as part of a quarterly education night series.

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Bertrand has a 2-day video EEG scheduled that weekend.

Conveniently, he'll be inpatient at PCMC, which means we'll be in attendance!

30 Days 'Til World Rare Disease Day

Our Bertrand photo from last year. The edema was an effect from ACTH injections.

30 days from today is World Rare Disease Day.

Why is the number 30 significant?

30% of children with RARE disease will die by their 5th birthday.

Here are more statistics:

• An estimated 350 million people are affected by rare disease worldwide.
• 1 in 10 Americans is affected by rare disease.
• That’s over 30 million Americans. To put it in perspective, 30 million Americans is more than the total number of people living worldwide with cancer (28 million according to the Livestrong Foundation).
• There are more than 7,000 rare diseases with some affecting less than 100 people.
• 75% of rare diseases affect children.
• Almost 80% of rare disease are genetic in origin.
• These rare conditions are chronic, life threatening and FATAL. There are NO cures for any rare disease, and only 5% of the diseases have any type of treatment.
• Over 50% of Rare Diseases have no foundations, advocacy group or community support.

Bertrand is one of the 50%.

Get involved, and care for rare! Hope is in our genes!

Power Wheelchair?

I love this image from Ottobock. Can't you just imagine Bertrand staring up at the fishes like that? :)

Bertrand had his regular 6-month wheelchair fitting today. He had grown a lot, but the adjustments were made quickly. His chair will get another tune-up in July.

While his chair is in great condition, I broached the subject of a power wheelchair with the technician. And, he put Bertrand on a list for a power wheelchair evaluation! The eval will likely be sometime in March at the soonest.

There are 2 routes to getting a power wheelchair--assuming he qualifies. We can request a donated chair or we can find a chair ourselves. (If we can find or buy a power wheelchair ourselves, then they will fit it for him regardless.)

Bertrand has been working with a mobility specialist at his preschool, and his home OT and PT will add to his training. Hopefully that combination will give him enough of an edge when he gets evaluated. (Cue "Eye of the Tiger" and montage!)

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.

Victoria Walking

Not her best, but you get the idea. :)

What is normal?

Normal for V and Normal for B.

At playgroup, a fellow mom gestures to Victoria and remarks with amazement, “She’s standing!” Yes, she takes a few steps too. (Victoria obliges with a small demonstration.) “How old is she again? Only 9 months? That’s advanced!”

At the bus stop while we're waiting for Bertrand, a neighbor with a boy Victoria’s age asks, “has she started soft solids yet.” What do you mean? She says, “like mashed bananas.” She eats her own kid’s meals. She loves bacon! “That's advanced!”

These examples are just within the past 24 hours. Since she was a couple weeks old, perfect strangers have come up to remark to us how “advanced” Victoria was, from head control, alertness & expression, to now walking, self-feeding & signing.

This was new to us. For a while we figured that telling parents that their child was “advanced” was the new “cute”. Then it started happening frequently enough, that I started to get a bit paranoid & typically self-recriminating. “What if I am accidentally giving her physical therapy instead of playing like a *normal* parent?!” And, then, at some point, I finally stopped caring.

She’ll be okay.

Before Victoria, we didn’t say that Bertrand had delays, special needs, or special powers. Other kids were just “normies”. Depending on the context, I could use the term matter-of-factly or spit the epithet like a slur. Now, even in light of her 9 month-old “accomplishments”, Victoria classifies as a “normie” to us.

Even though we, her loving parents, mean no harm by it, words have power. Perhaps we shouldn’t be using the word “normie” in front of Victoria or to refer to her? Much like other loaded words, I’d rather postpone the discussion as long as possible. But in order to communicate effectively, we need accurate words. How do we describe her brother? Other children ask all the time. Should we just learn to accept the “special needs”, “developmentally delayed” or “disabled” labels, even though they all fit like an itchy burlap sack? They fail at being accurate. They don’t capture all that Bertrand is. They just capture what he is not. How is “normie” any different?

We can all agree, Bertrand isn’t the poster child for normal. But, apparently, neither is Victoria. I wouldn’t call Matthew or myself normal either. (Although perhaps the man with a Star Trek table in his office would beg to differ?)

What is normal anyway?

Working with Miss A.

Here Bertrand is working with Miss A. He loves her! (Sorry for the poor audio. Someone--ahem, Victoria--chewed on & damaged my phone.)

Team Bertrand's Newest Members

More Bertrand-schoolbus awesomeness--just because.

Bertrand had a big week! At his pediatric and naturopathic follow-ups, both doctors commented on how great he looked. In particular, his pediatrician was impressed with Bertrand's muscle tone. Yes, I was beaming. :)

To help maintain (dare I say improve?) that great tone, we hired two new members to Team Bertrand: Miss A and Miss V! Both A & V are graduate students up at the University of Utah, pursuing doctoral degrees in physical therapy and occupational therapy, respectively.

Miss V started yesterday morning and Bertrand had a blast! You could hear him giggle & sweet talk her (he's such a flirt) all through the house. She did a marvelous job getting to know our B, working him through his Now I Can exercises, as well as incorporating OT and school lessons.

What a big step toward better balance for all of us!

Victoria's 9 Month Photos

Victoria celebrated her 9 month birthday last Saturday with a photo-shoot by our darling and talented friend Staci (now at Sweet Envy Photography)! She perfectly caught Victoria's personality, and as you can tell, we're in trouble. ;)

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.

Bertrand had a banner day!

Below is a note from school. We are so proud of our big, school-bus-riding, smiling, funny boy!

"WhAt aN AmaZiNg DaY BeRtRaND hAd ToDaY!!! During worktime we observed that he seemed to be laughing appropriately at the kids and following what they were doing. Then during my language group (large group time) he was laughing at the animal sounds that I was making. When I made my elephant noise he laughed 3 times in a row. (I was pausing and testing to see if it was in response to my noise, or just laughter and he would wait for me to make it before laughing!) Then later in the book he laughed four more times after my monkey noise! (The first two times Heather and I thought he was trying to imitate it, rather than laugh at it. The next two times he was definitely laughing!!!) Later we tried it again and he did it again for Christina. We tried it one more time (with the video camera on) and he would not do it to save my life! (Apparently I'm just not that funny ;o) But what a day!!! We'll try to get it to happen again tomorrow."

School Bus!

Waiting for the school bus.

Getting buckled up on the bus.

Peaking in at the big boy.

Ready to go.

And they're off!

Getting off at school. The light is bright!

(photo credit: Miss Heather)

Rollin' into school like a boss! ;)

(photo credit: Miss Heather)

I want to extend our sincerest thanks to everyone who made this possible. The look of wonder on Bertrand's little face as he was lifted on to the bus was priceless. :)

Social Media Detox

Some cute moments I caught on my phone's camera today, including proof that my kids wear clothes... sometimes.

For months now, I've barely sat in front of my computer. I've written blog posts, checked emails, updated twitter, read facebook almost exclusively from my phone. More than just a convenience or an easily dismissed bad habit, after reading this NY Times article on "decision fatigue", I've realized that the constant connectedness has played a role in draining me. In an effort to bolster my internal resources, I deleted (GASP!) my Facebook and Twitter apps. And, I wager that locking my web browser and email client won't be far behind. If you see me looking a little lost and jittery, now you know why. I know it won't be easy at first, but it's for my own good. Please wish me luck! I'll need it.

PS - I'll still be checking email, but primarily on my computer maybe once or twice a day. As much as it pains me to say this, if you want to get in touch with me quickly, send a text message or even (groan!) call me.

Sleeping Beauty

Subtitle: Starting to live again.

Bertrand laughs at Victoria. "You don't play the piano upside down, silly sister!"

The past 4 years of our family have drawn a parallel to the story of Sleeping Beauty. In our case, the handsome prince Bertrand was our sleeping beauty. And, the unexpected hero has been the fearless little queen Victoria.

Of course, Bertrand is a hero. He is the protagonist of this blog and is always in the spotlight. But in this story, we discover that a tiny imp of a sister can be a hero too. :)

You see, when we moved to Utah we learned that Bertrand had medical issues, the extent of which were unknown at the time. Our lives in many ways became frozen. In a state of suspended animation, we focused solely on Bertrand's condition, diagnosis, treatments, quality of life.

With the exception of Bertrand's room, our house was frozen in the state it was unpacked in. Our hobbies were squelched and our habits became entrenched, in spite of concerted efforts to kick start life again. It was Groundhog Day. We were living in the moment... to a fault.

The birth of Victoria has changed all that. The thawing started with baby-proofing, but has extended much deeper. We're living each day to the fullest, but like we have a future too. Bertrand's special needs trust bank account was opened. Matthew lost 40 pounds and got in shape--to be able to care for Bertrand and walk Victoria down the aisle. (Which will be difficult as I may never allow her to date.) I've started to rediscover my hobbies and work on my own health--again for Bertrand as much as Victoria.

The biggest eye opener for me was the holidays. For the first time in 3 years, I didn't burst into tears at every catalog and commercial depicting happy, able-bodied children opening presents, decorating gingerbread houses, or engaging in snowball fights. I was able to smile as I witnessed Victoria enjoying those things and Bertrand enjoying them in his own way! The joy I found in his accomplishment wasn't forced. She managed to take the unintentional burden off of Bertrand to conform, and for that alone I am grateful.

Bertrand's life has gotten infinitely richer because of his little sister. Before Victoria, we paid lip-service to the concept of childhood, but our world revolved around therapy. Post Victoria, we play for playing's sake! We laugh together--a LOT! Bertrand's sense of humor has really come into focus, and I've come to know him even better than I did when he had my unwavering attention.

As with anything, there are ups and downs. Victoria's progress has opened a lot of old wounds and grief. But, the experience, I think, is a healing one. The pain has been akin to breaking a bone to set it correctly rather than just rubbing salt in a wound for no reason. It frees us.

All that to say, we are extremely grateful for both our wonderful children! We know that "happily ever after" isn't guaranteed, but at least it's possible. :)

Happy 9-month birthday, Victoria!

Inflammatory Bowel?

Bertrand looking enthusiastic.

"You poke my belly and now you want to do WHAT to my butt?!"

At Bertrand's GI appointment today, the doctor told us to stop his medication ursodiol/actigall because his liver enzymes have normalized. (Bertrand was on 180mg 3 times a day for over a year and a half.) At the follow-up appointment in 6 months, if Bertrand's liver enzymes have risen again, he will reinstate the ursodiol. But for now, that's one less medication! Yippee!

Also, Bertrand's faecal calprotectin test came back elevated. This usually calls for a colonoscopy. But, because this test has some false positives and the colonoscopy is a sedated procedure, the doctor ordered a repeat of the test, which is just a fecal sample. The reason this test was ordered in the first place was to check for inflammatory bowel (not to be confused with irritable bowel). The bowel is where many vitamins are absorbed, and chronic inflammation interferes with vitamin absorption. Causes could be anything from Crohn's disease (not likely) to metabolic disorder (duh), so now that's on the table. Fingers crossed for a normal result!

P.S. - Bertrand's weight is much better but the doctor still wants him to lose more. :(

Pinocchio

"I've got no strings. To hold me down. To make me fret, or make me frown. I had strings. But now I'm free. There are no strings on me!"

Above: Bertrand's teachers at school put strings on his shoes to help prompt him to move his legs. Aren't they creative?! And, isn't he cute? :)

Tomorrow: Bertrand has a GI appointment and I will email the 2 PT aide candidates we selected! Going through all the resumes, references and schedules was time consuming but worth it. I am amazed at all the extremely qualified individuals who want to work with B!

Next Week: Bertrand starts riding the bus to school on Tuesday! His AM driver will be Ernie and his PM driver will be George. I am sure Bertrand will LOVE them and the bus. He's such a big boy. :)

Wordless Wednesday

(Received these canvases today! Now, where to put them?)

Going to the 2012 Abilities Expo!

Bertrand received a surprise Christmas gift: a trip to the 2012 Abilities Expo in Atlanta, Georgia!

The Abilities Expo takes place February 17-19, 2012 at the Georgia World Congress Center and admission is FREE!

We're excited to see and try out items for Bertrand!

School Parking Spot

Remember our parking issues last year?

There are two new wheelchair accessible parking spots at Bertrand's school.

Please note the sign. :)

Run to Walk 2012

It's time to gear-up for the 4th annual Run to Walk! Run to Walk is a charity run helping children with disabilities pay for physical therapy so they can reach their physical goals and greater independence!

(Basically, it benefits the Now I Can Foundation which has worked wonders for Bertrand.)

Bring the whole family for lots of fun!

There will be a 5K race and a 1 Mile fun run/walk.

In the 5k race there will be cash prizes for the top 3 men and women overall ($75/$50/$25) and a prize for each M/F age group winner.

Join us after the run for carnival games for kids, food, and a raffle for great prizes!

Cost is $15 for the 5K and $10 for the 1 mile walk/run until May 11th (price increases to $20/$15 after May 11, and race day price is $25/$20). Groups of 5 can register for $65 until May 11th (price increases to $90 after May 11, and race day group rate does not apply).

Online registration will close Friday May 18th at Noon.

Race-day registration will be from 6:30-7:30 am.

Register now to ensure availability of the right t-shirt size! See you at the race!

Getting Back on Track

Getting back on track blog-wise after the holidays has proven challenging. I'm hoping that posting something--no matter how long or short--will renew the posting habit. :)

The past month has been difficult since Bertrand's girlfriend Hannah passed away. The emotions involved have been hard and confusing.

Also emotionally complex has been Victoria's total eclipse of every milestone Bertrand ever accomplished. She has consistently stayed ahead of every development guide. Crawling at 5 months-old. Cruising at 7 months-old. And now at 8 months-old, she can crawl up stairs and just began using the sign for "milk". Of course, it's relieving in that we don't have to question her health. But, it's tough in that we've entered uncharted territory--we're essentially first time parents!

With that have come realizations about our limitations and desires as parents. While I've been acting as Bertrand's at-home therapist for 4 years, that is not the role I want. I want to be his mother--and Victoria's. With the ways things currently are, I feel as though I am failing at both roles. As hard as it is to say, I need help.

To clarify, I need help that doesn't come with strings attached.

So, put the word out, we're looking for a physical therapy student interested in working with Bertrand in the mornings before school, 5 days per week. The student would follow the program set forth by a licensed physical therapist at Now I Can.

Ideally I will put those hours to work on physical therapy for myself (to slow the disintegration of my knees), to dedicate more time for Victoria, or to improve my general sanity.

I'm terrified. Please wish us luck!

Nystagmus

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

Things to think about...

Today, Bertrand had his first appointment with an epileptologist in Utah. We're waiting to hear back from scheduling for a 2 day overnight EEG. The doctor also left us with two new treatments to research and think about:

• Banzel (Rufinamide)
• High-Dose Valium Protocol

Next steps will be taken based on the EEG findings.