Rare Disease Day 2011

Bertrand says that we should all spread awareness about the impact of rare disease!

Today, our family wore jeans and denim pins in support of Rare Disease Day. Bertrand made a big splash at preschool wearing his "jeans for genes" proudly! Across the globe there were fantastic events spreading awareness about the 250 million people affected by a rare disease.

There are currently just over 7,000 rare diseases identified, affecting 30 million people in the US alone. Although these numbers are staggering, what is of even greater concern is that approximately 75% of those affected are children, making this disease category one of the most deadly and debilitating for our country’s children--like Bertrand.

Next year, I would love to hold an event at Bertrand's school much like the inspiring one at Vanderburg Elementary! Anyone crazy enough to help me? :)

6 Month Post-Infusion Report

Bertrand thinks he's pretty cool in his sunglasses!

Hi Dr. K,

Bertrand is still doing really well. He can play with sensory bins, track objects perfectly, find/recognize faces, and keeps making progress on bearing weight and using his fingers. The most important change for us is that he is finally happy! He laughs and smiles every day!

Worth noting, in January Bertrand's liver function levels had drastically decreased. They are still elevated (AST 83 and ALT 98), but that's a long way down from being in the 600s! We're not sure if that's thanks to medication (actigall) or possibly stem cells but, whatever the case, we are pleased.

Thank you!

Depakote Begins

Today, Bertrand had a seizure-y day at school and at home. He was still in high spirits, smiley, and very awake, however, a particularly long cluster of myoclonus was the last straw. Rather than wait until tomorrow, I started his 125mg of depakote this evening. We'll be monitoring him closely over the next several weeks and his blood levels will be drawn in a week. Our fingers & toes are crossed.

Yo-yo

Bertrand displays his preference for music over toys.

PAST WEEK

The last few weeks have been tough as we've dealt with Bertrand's medication changes in an attempt to achieve further seizure control.

After a 25mg increase in Lamictal, Bertrand's seizures increased. Reducing the dose--in preparation for the addition of Depakote--brought seizure numbers down a bit. (Paradoxical seizures perhaps?)

This Thursday, we will be starting Depakote (valproic acid) in the hopes that it will nix some of Bertrand's nasty remaining seizures. We won't see it's full effects until late March.

Through it all, Bertrand's continued smiles and laughter have powered us and pushed us. We don't want to lose our happy, sweet, little trickster to the fog of seizures again.

TODAY

In this morning's occupational therapy session, Bertrand successfully played with switches, sensory bins, and other toys. He demonstrated his improved reach (gross motor) and finger usage (fine motor), along with developing memory and the comprehension of cause and effect!

Nana took Bertrand to his afternoon dance class. Apparently, he protested his new aide and demanded his Ms. E back! --attempting to lure her with eye contact and indignant squeals. Hopefully, his demands were noted and he'll have her back next week. :)

Bertrand's final coup for the day was reaching up and pulling off his Nana's glasses! We were all overjoyed and so proud of Bertrand's reaching & grabbing! We can only hope to lose earrings, break necklaces, and have lots of hair pulled soon! :)

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.

Bertrand's Thank You Cards

Classic Scarlet 5x7 folded card

Shutterfly custom Valentines Day and Mother's Day cards.

View the entire collection of cards.

I LOVE this picture of Bertrand, and I had a shutterfly certificate expiring at the end of this month, so Bertrand got new thank you note cards! I can't wait to make cards for myself with pictures of both Bertrand and Victoria together. :)

Vehicle lift on order!

Today the vehicle/wheelchair lift for the back of our car was fitted and ordered. We're going with a Bruno Curb-Sider. I can't wait for it to get here! Bertrand's wheelchair weighs an awkward 50 pounds, Bertrand himself weighs about 40 pounds, and the 8-month pregnant belly I am hauling weighs 30+ pounds. I've been lucky to stay out of traction so far, but only by declaring surrender and resorting to using Bertrand's Maclaren Techno XLR (stroller) rather than his Zippie IRIS (wheelchair). However, his wheelchair is by far the better seating system, so I am eager to get him back in it! We're aiming for an early March delivery and install. Keeping fingers crossed that all goes smoothly!

Plan for Better Bones

Bertrand tearing into his Valentine's haul from school.

Bertrand had a fabulous physical therapy session at Shriners and afterward we had an appointment to discuss Bertrand's bone health with his pediatrician. Not only are broken bones painful for Bertrand, but they set him back developmentally--he has yet to recover fully from his broken leg in October. Bertrand broke both his humerus (upper arm) and his femur (upper leg) in 2010, so we want to plan to prevent additional breaks.

The discussion with his pediatrician went fantastically well. We covered topics including: water therapy, weight bearing, vibration therapy, vitamin D, calcium & phosphorous supplementation, bisphosphinate injections, medication interaction (prevacid, depakote), & more.

His pediatrician believes that Bertrand does have low bone density (just like any other child with a neurological disorder would have), so a dexascan wouldn't reveal anything new. However, his breaks have occurred in very typical locations for a child his age and his last bone break may have been due to a growth spurt. Therefore, she is not convinced that his bones are that bad.

Furthermore, Bertrand is still young, he is doing way better than expected (yay!) and there is a lot we can do to build his bones naturally--which would be less brittle than bone created through something like bisphosphinate injections.

Bertrand's Plan for Better Bones:

• Supplementation: We'll do a 3 day food diary to estimate his current calcium, vitamin d, and phosphorus intake. We don't want to overdo the calcium because Bertrand is prone to kidney stones, but we do want to optimize the calcium while bombing his system with vitamin D. We'll adjust his diet accordingly.
• Medication: Along with monitoring levels of vitamin D, calcium, etc., we'll also keep an eye on medication levels and limit those with negative interactions whenever possible. Bertrand will have a Ph test done during his EGD in early March to see if staying on prevacid is necessary now that he is older.
• Sunshine: While sunburns are a big no no, Bertrand will be encouraged to spend lots more time outside with minimal sunscreen to improve vitamin D absorption.
• Water Therapy: To encourage weight bearing with minimal resistance, Bertrand will begin water therapy. This task is being gratefully delegated to Bertrand's Nana, who is a swimmer & enjoys the water. (I detest pools, the beach, and even bathtubs.)
• Stander Time: Bertrand will have his stander re-adjusted at Shriners and we'll become religious about building up his tolerance back up to 2 hours in the stander daily.

PS - Bertrand's pediatrician will take Victoria (Bertrand's sister due in April) on as a new patient even though her office says that she is not taking any more! :) It is such a relief that any early warning signs will be caught!

PPS - Bertrand is back to having horrible drop seizures and myoclonus. We're hoping that he's either sick, or it's the increase in Lamictal, or the drop of the Zonegran, and not his pharmacoresistance rearing its ugly head again. He'll be seeing his neurologist tomorrow. We'll be talking depakote.

Just Call Him Mr. Noodle!

After 2 years of struggling to get Bertrand to interact with a sensory bin, Bertrand goes to town on a sensory bin full of dry noodles!

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.

Lily Elizabeth Hayes

Little Lily Pie

October 17, 2010 ~ February 06, 2011

Lily Elizabeth Hayes left this world for a better one on the morning of Sunday February 6th 2011. Born October 17th 2010 to Zar and Erin Hayes, who knew her life would be brief, but worth it. Despite many hardships due to partial trisomy 16 and partial monosomy 9, Lily was strong in both body and spirit. She was opinionated and tenacious—refusing to do things by the book, follow the same path her sister took, or be confined by her parent’s expectations.

She had radiant blue eyes that expressed a willingness to endure all things, from medical procedures, physical therapy and the nickname “Fatty face.” Lily was loved desperately and shared her love through contented snuggles and quick smiles. In her short 3 and a half months on earth she experienced kisses from delighted big sisters, a NICU Halloween in a bumble bee costume, a joyful Christmas season, taking part in the Temple sealing of her sister Ava to our family, and staying in a luxury hotel room in Vegas. Lily, what we will miss the most are the small moments—morning coconut oil baths, sleeping with you between us, cradling you in our arms and brushing your hair into a faux hawk. We’ll always have a spot reserved for you in our hearts.

Survived by parents Zar and Erin Hayes, big sisters Ella and Ava Hayes, grandparents Michael and Kathryn Hayes and Kyle and Julie Enslin and the many aunts, uncles, and cousins who adored her. Proceeded in death by big sister Charlotte. Special thanks to the doctors and nurses at St. Marks Hospital and PCMC, and IHC hospice. Lily’s story can be found at www.booferd.blogspot.com.

A viewing will be held Thursday February 10 2011 at Larkin Mortuary at 260 East South Temple in Salt Lake City from 12:30 to 2:30 followed by a graveside service at the Salt Lake City Cemetery.

Well done Lily Pie! May you bloom ever brighter until we meet 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.