September 28, 2012

RARE Patient Advocacy Summit Simulcast

We'll be tuning in to watch this year's RARE Patient Advocacy Summit with the hope we can attend next year! Below is a message from the Global Genes Project.
In conjunction with the first annual RARE Tribute to Champions of Hope Gala, Global Genes | R.A.R.E Project will hold a Patient Advocacy Summit on September 28, 2012, from 9 a.m. to 3 p.m. at the Balboa Bay Club & Resort in Newport Beach. Patient advocates will engage, learn, and discuss a variety of topics that directly affect them leading to collaborations that will benefit the entire rare community.

Although this event is currently full, you may register to watch the summit simulcast live via the web or later at your convenience. If you would like to join us, please register at in order to receive the simulcast link.

Thank you and we hope you can join us and watch the simulcast!

The RARE Team

Streaming video by Ustream

September 27, 2012

Preschool Twilight Zone

Victoria loves Titi Karen and R!  R is one of her best friends.
Today we went to visit a preschool for Victoria.  Oddly enough, this is the preschool I'd looked at for Bertrand aaages ago when we first moved to Utah.

The school is still fantastic.  (Victoria is now on the waiting list.)  But, the experience was surreal.

Victoria didn't hesitate to start playing with the teacher and other kids.  Despite some uncharacteristic shyness, she loved it.

Bertrand could barely sit on his own the first time he was there.  Even now he can barely sit on his own.

It was weird to feel time fast forwarding for one child, but frozen for the other.


Later at lunch with friends, Victoria had the time of her life playing with her best friend, R.

R is a little boy Bertrand's age, and I am constantly amazed by how sweet, kind and nurturing he is with Victoria.

It's a little bittersweet at times, since I wish Bertrand could play with her like that.  I can see how much his attention means to Victoria.

I am grateful that we have good friends like R to fill Victoria's desire for friendship AND to take the intense little sister heat off Bertrand.  :)

We're recovering from our colds.

Next week once Bertrand is stabilized, we will adjust his medication as per discussion with his (new) neurologist.  We'll be tweaking his lamictal and depakote dosage and timing.  Our aim is to increase seizure control while minimizing cognitive impact.

Nothing ventured, nothing gained.

September 24, 2012

Oktoberfest 2012

Daddy titled this photo "Gandalf the Pink".
The subtitle of this post is: we all get sick.

We went to Oktoberfest yesterday knowing that Victoria was sick with a runny nose. We came home with Bertrand and me feeling sick. And, this morning Daddy woke up with it too. So we're all sick.

What can I say? Victoria is a little trendsetter.

However, we managed to have fun.  Bertrand got a brand new, bright red, alpine gangsta hat.  (Because his head is too big for his old one!!!  Take that microcephaly.)  And Daddy gleefully bought Victoria somehow scammed her way into a new glowing light saber/staff (see the geekiness above).

So with that, I'll call this Oktoberfest a wrap and declare cold and flu season autumn officially begun.

Victoria, for the record, is just as energetic and playful as ever.  (So not fair.)  Today, Bertrand is staying home from school, and we're going to stay in our pajamas as long as possible.  Sounds like a plan, right?  :)

September 22, 2012

N-glycanase may play a role in pain transmission.

N-Glycosylation Determines Ionic Permeability and Desensitization of the TRPV1 Capsaicin Receptor*

The Journal of Biological Chemistry, 287, 21765-21772.
  1. Peter McIntyre,1
+Author Affiliations
  1. From the Departments of Pharmacology, and
  2. §Anatomy and Neuroscience, University of Melbourne, Parkville, Victoria, 3010, Australia,
  3. the School of Medicine and Dentistry, James Cook University, Cairns, QLD 4870, Australia,
  4. the Department of Anesthesia and Perioperative Care, University of California, San Francisco, California 94143, and
  5. the **Monash Institute of Pharmaceutical Sciences, Melbourne, Parkville, VIC 3052, Australia
  1. 1 To whom correspondence should be addressed: Department of Pharmacology, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Grattan Street, Parkville, Victoria, Australia. Tel.: (+61)-3-8344-5745; Fax: (+61)-3-8344-5743; E-mail:


Background: We studied effects of N-linked sugar residues on the sensory ion channel, TRPV1.
Results: Glycosylation of TRPV1 did not alter cell surface expression but was necessary for sustained cell calcium responses to allow uptake of YO-PRO-1 dye.
Conclusion: N-Glycosylation regulated inactivation and ion selectivity but not expression of TRPV1.
Significance: N-Glycosylation is a basic regulatory mechanism of TRPV1.


The balance of glycosylation and deglycosylation of ion channels can markedly influence their function and regulation. However, the functional importance of glycosylation of the TRPV1 receptor, a key sensor of pain-sensing nerves, is not well understood, and whether TRPV1 is glycosylated in neurons is unclear. We report that TRPV1 is N-glycosylated and that N-glycosylation is a major determinant of capsaicin-evoked desensitization and ionic permeability. Both N-glycosylated and unglycosylated TRPV1 was detected in extracts of peripheral sensory nerves by Western blotting. TRPV1 expressed in HEK-293 cells exhibited various degrees of glycosylation. A mutant of asparagine 604 (N604T) was not glycosylated but did not alter plasma membrane expression of TRPV1. Capsaicin-evoked increases in intracellular calcium ([Ca2+]i) were sustained in wild-type TRPV1 HEK-293 cells but were rapidly desensitized in N604T TRPV1 cells. There was marked cell-to-cell variability in capsaicin responses and desensitization between individual cells expressing wild-type TRPV1 but highly uniform responses in cells expressing N604T TRPV1, consistent with variable levels of glycosylation of the wild-type channel. These differences were also apparent when wild-type or N604T TRPV1-GFP fusion proteins were expressed in neurons from trpv1−/−mice. Capsaicin evoked a marked, concentration-dependent increase in uptake of the large cationic dye YO-PRO-1 in cells expressing wild-type TRPV1, indicative of loss of ion selectivity, that was completely absent in cells expressing N604T TRPV1. Thus, TRPV1 is variably N-glycosylated and glycosylation is a key determinant of capsaicin regulation of TRPV1 desensitization and permeability. Our findings suggest that physiological or pathological alterations in TRPV1 glycosylation would affect TRPV1 function and pain transmission.

September 21, 2012

An Awesome Day

Bertrand with his new friends Brian (left) and Seth (right) at the Utah Museum of Natural History.
Today was an awesome day!  This morning started off with a family trip to the Utah Museum of Natural History with our friend, Seth.  We were met there by Seth's friend, Brian, who happens to be a paleontologist!  Brian gave us a personal tour of the museum!  I was over the moon.  My inner dino-fangirl was squealing.  :)

When we got home, the kids went down for naps, while we had a chat with Bertrand's (and my) beloved Ms. Connie.

After that, Bertrand's therapist Miss A arrived to work with him.  She also brought by a 1st year PT student for me to interview as her replacement for next year.

Then Nana and Papa came over!  They just got into town a few days ago.   They showered both kids with souvenirs and played with them while we chatted and caught up.

In the meanwhile, our friends Kimmie and Angus swung by to harvest some of our grapes.  They also  brought us lavender and homemade apricot preserves!

(We feel really lucky and spoiled today!)

To top off the evening, Bertrand had his very first U-FIT session.  His volunteer, Mark, is a second year medical student at the University.  Both guys did fantastic!  It took Bertrand a while to get warmed up, but once he was engaged, he really enjoyed himself!

We're fortunate to have so many good, generous, and downright fabulous people in our lives!

September 19, 2012

Dine at IHOP for the Epilepsy Association of Utah

You know, some days, eating is just eating. Then there are the meals spent at IHOP. On those special days devouring at IHOP, why not help The Epilepsy Association of Utah (EAU)?

From 5:00 pm to 9:00 pm on September 26th, particpating IHOPs along the Wasatch Front will donate 20% of their qualifiying sales to help the 100,000 people in Utah living with Epilepsy.

Just bring in a copy of the flyer (Download it here)
to one of the following IHOP Restaurants and the EAU will get 20% of the total cost of your meal! Now that's a meal with a purpose.

This September 26th from 5:00pm - 9:00pm IHOP will donate 20% of their sales to The Epilepsy Association of Utah. All you have to do is print out the flyer to the right, take it in to one of the Participating Restaurants, present it to your server when you order your meal with a beverage and IHOP will send us a check for 20% or your total bill. How cool is that? Help us, while enjoying a meal with family and friends!

September 26th, 2012
5:00pm to 9:00pm


IHOP Ogden
189 12th Street
(801) 621-7000

IHOP Layton
920 North Main Street
(801) 593-0433

IHOP Riverdale
947 West Riverdale Road
(801) 392-4467

IHOP Centerville
388 North Market Place Drive
(801) 296-8000

IHOP Sandy
10815 South State Street
(801) 523-8613

September 18, 2012

4th time's a charm?

Today, Bertrand officially switched neurologists for the fourth time at the University of Utah.  Ironically, this doctor is the one we were originally recommended back in 2008/2009, but he wasn't taking on new patients (despite strenuously pleading Bertrand's case to his administrative assistant).  Actually, I think he still doesn't take new patients, except in special cases.  I guess I Bertrand finally qualifies as difficult special.  ;)

After refusing to feed himself, with the help of his therapist, Bertrand enjoys feeding his sister.  Go figure.

September 17, 2012

SWAN USA: Exome Sequencing Give Away

For our undiagnosed friends, here is an interesting opportunity courtesy of SWAN USA: an exome sequencing give away.  Exome sequencing coupled with excellent analysis by researchers at Duke University was the means by which Bertrand was finally diagnosed.  We hope exome sequencing will provide answers and peace to other families as well.

Exome Sequencing Give Away

SWAN USA is excited to announce this opportunity to Families.

Ambry Genetics has offered to our community the generous donation of Exome Sequencing. We will be accepting applications from now until October 17th. If you would like the chance to see if exome sequencing can find the answers for you, enter today. We know that many families have gone through years of testing. As testing technology and understanding grows, we hope that fewer families have to face the uncertainty of not knowing what is affecting their loved ones. With each advancement we hold on to that Hope.


Read the Requirments and Terms

September 14, 2012

Victoria's (belated) Birth Story

I had a good laugh sharing details of Victoria's birth story with a friend the other day.  So, in honor of her 17 month birthday today, here is Victoria's birth story.  Feel free to giggle as well.  :)

Newborn Victoria. Tiny but tough.
Victoria was born after just over 2 hours of labor. Over an hour of that was all pushing.

Matthew didn't understand my urgency in leaving the house. (Let me pack my power cord.  Where is the camera? I want to shower first...) Labor with Bertrand was 15.5 hours, so Matt thought he would have time to kill.

But, within 30 minutes of arriving at the hospital I was past 10cm and Victoria was on her way.
(My water exploded on the admitting nurse as she was taking my vitals, and she was soaked from the waist down.)
What we didn't discover until almost an hour later at delivery, was that she was in the posterior position (hence the back labor pains and my subsequent fractured coccyx) and her umbilical cord was wrapped twice around her neck. The shortened cord was acting as a bungee, sucking her back after every push.

Regardless, Victoria made it out. She was born a little "unicorn", her skull shaped into a massive spike. She was also born with 3 skin tags on her right ear.

Within hours, her skull was reforming before our eyes. The skin tags, however, were very much there.

When Matthew took Victoria back with the nurse and pediatrician for her first bath, I immediately started googling "ear skin tags" on my phone. Search results returned possible hearing loss, kidney malformations, and mental retardation. I kid you not.

I mentally checked each off:
  • Hearing loss - Not a problem. I know some sign language and already have a connection with Utah School for the deaf and blind. 
  • Kidney malformations - Not a problem. I know a great renal specialist here, a good surgeon, and plenty of moms of kids with renal issues.
  • Mental retardation - Not a problem. I have some experience with cognitive and physical delays. ;)
Phew! I was totally relieved! I knew we could handle these things. 
Matthew walks back in with Victoria--sporting a little black string tied around one of her ear tags. He cheerfully informs me that the pediatrician gave Victoria a clean bill of health. Ear tags (and even extra fingers) are totally common. She just needs a simple plastic surgery when she is 6 months-old to remove 2 of the tags. The 3rd tied skin tag will fall off on it's own.

And then Matthew's mom walks in and, upon seeing Victoria, the proud grandma tells us, "I had the same skin tags on the same ear!"

Now that's when I started to freak out. My daughter could actually be normal?! I have NO IDEA what to do! 
Haha!  As it turns out, we're figuring things out just fine. ;)  

6 month-old baby Victoria.  Perfection in pumpkin form.
We took Victoria to see the plastic surgeon when she was a few weeks old. We scheduled a date for surgery shortly after her 6-month birthday.  
But then a few weeks before her 6 month birthday, we cancelled it.

Later in life, when she's old enough to make the choice herself, we'll support her if she choses to undergo the surgery.

But right now, whenever we look at Victoria, all we see is perfection.

September 11, 2012

2012 Conference on Rare Diseases and Orphan Products

U.S. Conference on Rare Diseases and Orphan Products

Register By October 1 For Early Bird Rate!

Join patient advocates, drug and device industry leaders, researchers, government partners and investors at this major conference to address together "Shaping the Future Now" for rare diseases and orphan products.  Sponsored by NORD and DIA, with major input from FDA and NIH, this event will include general and breakout sessions with three themes:  policy, research and regulation, and special challenges.
The 2nd annual U.S. Conference on Rare Diseases and Orphan Products will take place October 22-24 in Washington DC. Everyone is welcome, and the program should be of particular interest to:
  • Researchers from academia and drug and device companies
  • Patient organizations and those interested in creating one
  • Senior managers from drug and device companies interested in rare diseases
  • Investors focused on the future of orphan product development
  • Policy experts who are concerned about federal or state policies that affect patients with rare diseases
  • Providers of services to the rare disease community, including insurance providers and healthcare professionals
  • Government officials responsible for rare disease research and orphan product oversight

Online Registration Is Open Now!

A full description of the conference and online registration are available now.  Register by October 1 for the Early Bird rate.  Topics and speakers will include:
  • Impact of FDASIA on Orphan Product Development (Andrew J. Emmett, MPH, Managing Director, Science and Regulatory Affairs, BIO; Cassie A. Scherer, JD, Policy Advisor, Office of the Center Director, CDRH, FDA)
  • Investing in Orphan Products: Is the Environment Getting Better or Worse? (session chaired by Thomas M. Burton, JD, Staff Reporter, The Wall Street Journal)
  • Special Challenges in Rare Diseases (John J. Castellani, President & CEO, PhRMA)
  • Well-Designed & Well-Conducted Clinical Trials (session chaired by Gayatri Rao, JD, MD, Director, FDA Office of Orphan Products Development)
  • The New Relationship With the Patient Community (session chaired by Jayne C. Gershkowitz, Senior Director, Patient Advocacy & Public Policy, Amicus Therapeutics)
  • TRND and Translational Development (Christopher P. Austin, MD, Scientific Director, NIH Center for Translational Therapeutics, National Center for Advancing Translational Sciences)
  • Endpoint Development (session chaired by Anne R. Pariser, MD, Associate Director for Rare Diseases, Office of New Drugs, CDER, FDA)
  • Facing the Crisis in Biomedical Innovation: A Venture Investor's Perspective (Jonathan S. Leff, MBA, Managing Director, Warburg Pincus)
  • Research and Regulation (Robert M. Califf, MD, MACC, Vice Chancellor for Clinical and Tanslational Medicine; Director, Duke Translational Medicine Institute; Duke University School of Medicine)

At a Critical Moment in Time: Bringing All Stakeholders Together

With a major new law (the FDA Safety and Innovative Act) soon to be implemented, this forward-looking conference brings together all stakeholders to "Shape the Future Now" for rare diseases and orphan products.
The conference is co-sponsored by the National Organization for Rare Disorders (NORD), the voice of 30 million Americans with rare diseases, and the Drug Information Association (DIA), a neutral, nonprofit, global professional association for those working in discovery, development and management of pharmaceuticals, medical devices and related products.
Collaborators include Duke University School of Medicine, EURORDIS (Rare Diseases Europe), the Food and Drug Administration (FDA) and the National Institutes of Health (NIH).

September 10, 2012

A very different 16 months

The last few weeks, Victoria has been obsessed with a video of Bertrand's first hippotherapy session.

Almost every morning, she will scale out of her crib like a ninja (Yes, the crib is on the lowest setting and there are no bumpers, she's just ridiculous. I promise we've tried everything.), she'll run over to Bertrand's bed, climb into bed with him, snatch his iPad from the charger on the bookshelf, and we'll wake up to the sounds of this video--on repeat.

(It's cute, but trust me, the music gets old.)

We'll walk in to find both kids watching together.  You can ask Victoria where Buddy is in the video and she'll point to him on the horse.  Sometimes she'll clarify, making the baby sign, that it is baby Buddy.

It occurred to me, based on the amount of hair Bertrand had in the video (not much, like his sister), that he was about 16 months-old at the time it was taken--the same age as Victoria right now.

Wow.  What completely different 16 month experiences for each child--AND for us as parents.

I went back and read the blog posts for that month of April 2009 and cried.  It was heartrending.

There were many "firsts" that month.  Yes, it was a first for hippotherapy.  It was also the first time we took Bertrand to Duke University, and the first time we directly heard from a doctor that Bertrand's case was basically hopeless.

And here we are 3.5 years later.  In some sense not much has changed--Bertrand's condition was recently reconfirmed as untreatable and fatal.  And yet things are totally different.

For one, I'm a lot more tired and older.  :)  But now clearly words like "brain damage", "surgery", and "fatal" don't phase me as much, if at all. Heck, more than words--broken bones, hospital stays, travel across the country to see specialists, attempting to do the impossible--it's just what we do.

We deal.  Maybe it's still denial  ;)  but I prefer to think we've finally reached a kind of peace.  We're comfortable with doing what we can rather than obsessing about what we can't.

Maybe it's finally having a diagnosis?  Certainly Bertrand's fighting spirit can be credited.  I also credit a certain spunky little sister.

Often I feel like Victoria (perhaps like many 2nd kids?) is given the short shrift.  She certainly doesn't get to ride horses, go to musikgarten, get a dozen one-on-one therapy sessions a month, or even get the same one-on-one time with her parents that Bertrand did.

But somehow Victoria, the tiny force of nature, is doing just fine.  And, Bertrand?  He's doing fine too.  Both kids are making their mark on the world in their own way.  And, this mama is proud of them both, now and always. :)

September 9, 2012

Utah State Fair 2012

Future 4H member.


Uncle Steve is the coolest.

Turkey leg.  Mmm...  Are we sisters or what? (And yes, there was funnel cake.)

Dancing baby was part of the motorcycle exhibition.

Bertrand's wheelchair had two flat tires (?!?!) when we got to the fair.  
Fortunately, we had a stroller in the car, and a great time was had by all.  :)

September 4, 2012

First Day of School Year 2012-2013

Today was Bertrand's first day of school.  He got super excited when he saw the bus!  I'm kicking myself that my phone ran out of space to take photos and promptly crashed.  We'll have to stage a retake so I can take his "official" first day photo on the porch.  :)  

Despite a few hiccups, (none of Bertrand's pants fitting, the bus picking-up and dropping-off at the wrong spots, overbooking myself, and Victoria drenching herself twice) we had a great day.  I'm so proud of my BIG school boy!  

(And we'll be off to buy Bertrand new school clothes this weekend--size 7.  Yikes!  He needs to share some pounds and inches with Victoria!)

September 2, 2012

Parent Education Night: Alternative Medical Treatments for Seizures

Pediatric Neurology Parent Education Night: 
Alternative Medical Treatments for Seizures

Thursday, October 11th 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:
  • Matthew Sweney, MD
  • Francis Filloux, MD
  • Paula Peterson, RN, MS, PNP
  • Eliza Hamilton, RD, CD
  • Kim Orton, RN
  • 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.

September 1, 2012

Swiss Days 2012

We took a quick trip to Midway, Utah this morning to experience "Swiss Days".  We enjoyed the excursion, but especially Matt because he got a teeny, working, wooden catapult for his office.

Next year we will be better prepared for the parking situation and the weather.  And then maybe Matt will get some of those wooden swords.... for the "kids" of course.  :-P