Purplelicious Pageant

Did I really just enter Bertrand and Victoria in a pageant?!  Yes, yes, I did.  (Eep!)  But this is not your typical pageant!  The "Purpleliciuos Pageant" is both an event for epilepsy awareness and a fundraiser for epilepsy research.  Tickets are $5 in advance and $7 at the door.  Come watch Victoria destroy the stage and Bertrand win the "Best Hair" category.  ;)

It's one thing to wear purple, it's quite another to be Purplelicious! Do you have what it takes to strut your stuff and show the world your fashionista? Maybe the Purplelicious Epilepsy Awareness Pageant is for you! Application deadline moved to August 3rd. 

What:   Purplelicious Epilepsy Awareness Pageant 

When:   September 15, 2012 (DATE CHANGED!) 

Where: Best Western Cotton Tree Inn in Sandy, UT 

Time:   9:00am - Registration, 10:00am - Pageant 

The Purplelicious Pageant is the brain child of Patty Gannon and her Granddaughter, Courtnie Bartholomeusz. Patty and Courtney are working to get the word out that Epilepsy is nothing to be feared, it is something you have, not something that has you. Be prepared, not only should you be lovely, you have to be lovely IN PURPLE. That's right, it's Purplelicious! 

Visit Purplelicious Pageant Application to download your application today!

Now I Can Session: May 2012

The folks at Now I Can just sent us the video of Bertrand's session last May.  It was exactly what we needed today. Our boy is amazing. Watch and see. :)

Rare Patient Advocacy Summit!

SEPTEMBER 28, 2012

9am to 3pm
Balboa Bay Club, Newport Beach CA

Join us September 28th as Global Genes | RARE Project will host the first annual Patient Advocacy Summit, where patient community participants can hear directly from and engage in dialogue on various topics to educate and inform.  A major challenge facing the RARE Disease community is the lack of significant, open and regular communication on common issues of broad interest.  While each rare disease is unique from a scientific standpoint there are common social issues which span the entire community. 

The event will be highly interactive. Panels and discussion will be prioritized over formal lectures and presentations. The outcome is not pre-set, it will be a collective effort based on the interactions of the participants. This annual summit is open to all in the rare disease community that wish to participate and is FREE.

Tentative Agenda

Friday, Sept 28, 2012 | 9am – 3:00pm

9:00 Introductions – Sharing our Common Ground

10:00 RARE Advocacy – You Have the Power

10:50 Break

11:00 Innovative Technologies & Platforms

12:00 Working Lunch – Table-Topic Focused Networking

1:00 Building Healthy RARE Disease Communities

2:00 Break

2:15 Communicating with the Public

2:45 Collaborations, Re-cap, Next Steps, Wrap Up

3:00 Closing Remarks

Finding, aligning, and acting on this common ground will further empower the rare community to establish a powerful shared, vibrant, and global voice that will lead to increased awareness, support, actions and response.

For more information click HERE.

*************
Yes, our family (Matthew, Cristina & Bertrand) is hoping/planning to attend! So excited!

Home At Last!

Dr. Dravet to visit Salt Lake City

Salt Lake City, UT June 21, 2012 – At the invitation of the Epilepsy Association of Utah, world renowned French Epileptologist, Dr. Charlotte Dravet, will visit Salt Lake City on August 15-18, 2012. Dr. Dravet has agreed to meet patients affected by Dravet Syndrome, a rare form of Epilepsy named after her research efforts. Patients are invited to meet one on one with the doctor on Monday, August 13. Dr. Dravet will also be presenting an “Introduction to Dravet Syndrome” on August 14 from 9 – 11am for all medical professionals wanting to attend. Please RSVP to this event by visiting www.epilepsyut.org/dravet_registration.html.

“The opportunity presented to the people and medical community within Utah is unparalleled”, said Kris Hansen, President of The Epilepsy Association, “Never before has the Epilepsy Community in Utah had the occasion to meet someone of her caliber. We are honored that she agreed to spend so much time here. It’s a once in a lifetime chance”.

Schedule of Meetings/Events

Monday, August 13:
9:00am – 4:00pm     Patient Visits at University of Utah

Tuesday, August 14:
9:00am -11:00am     Introduction to Dravet Syndrome
                               Dr. Dravet presenting along with doctors from UofU and Primary Children’s
12:00pm                  Lunch – By Invitation Only
2:00pm                    University of Utah Research Lab Tour
7:00pm                    Dinner with Dr. Dravet - A minimum donation of $75.00 a plate is suggested

Wednesday, August 15:
10:00am                   Grand Rounds at University of Utah

If you would like to participate in any of these events or have any questions, please contact:

Jenn Whiting
jenn@epilepsyut.org
or
Kris Hansen
kris@epilepsyut.org
(801) 566-5949

ABOUT DR. DRAVET
Dr. Charlotte Dravet was mentored by Dr. Henri Gastaut (Lennox-Gestaut Syndrome) at the Centre St. Paul in Marseilles. Her interests were focused towards the explanationof syndromes in childhood Epilepsy, the psychological consequences of Epilepsy, the progressive Myoclonus Epilepsies and their genetics, the congenital malformations of the offspring of Epileptic women and related studies. Her main contribution was in Myoclonia Epilepsy; with emphasis on benign and severe Myoclonic Epilepsies in infancy. Dravet Syndrome, is now recognized as one of the most malignant syndromes at this age and is widely studied by other authors and clinicians as well as geneticists.

According to Davet.org, “Dr. Charlotte Dravet first described Dravet syndrome in 1978 as Severe Myoclonic Epilepsy of Infancy (SMEI). The first seizures usually happen before one year of age, with no known cause other than fever or illness. Seizures progress to be frequent and do not respond well to treatment. They also tend to be prolonged, lasting more than 5 minutes. Other types of seizures, which are common in Dravet Syndrome, appear in early childhood, including myoclonic seizures, atypical absence, complex partial seizures and nocturnal seizures. Estimates of the prevalence of this rare disorder range from 1:20,000 to 1:40,000 births.”

Dr. Charlotte Dravet has been President of the French League Against Epilepsy and a member of the Commission on Classification of Epilepsies of the ILAE. She has participated in numerous congresses, lectures and is the author of a number of published works. Now retired, she continues to work in France and Italy to improve the care of people with Epilepsy.

ABOUT THE EPILEPSY ASSOCIATION OF UTAH
Founded in 1973, The Epilepsy Association of Utah is a 501(c)(3) charity dedicated to enhancing the quality of life for all individuals living with Epilepsy and seizure disorders. 1 in 26 people will develop Epilepsy at some time in their lives leading to over 150,000 people in Utah alone. Epilepsy is the 4th most common neurological disorder in the US after migraine, stroke and Alzheimer’s. The Epilepsy Association of Utah offers a public education program, statewide support groups, personal and professional advocacy, college scholarships, art exhibits, educational conferences, summer camp, and more. Visit http://www.epilepsyut.org for additional information.

Press Contact:     Lindsey Palmer
Email:                lindsey@epilepsyut.org
Website:             www.epilepsyut.org
                          www.dravet.org

Keeping things interesting - Take 2

Remember that post yesterday where I said, "Matthew and I are increasingly optimistic that he could be discharged tomorrow"?

HA. HA. HA.

Bertrand's discomfort and heart rate skyrocketed this morning.  His heart rate broached the 180s and stayed in the 170s for a large portion of the day.  He was transferred to Peds and then the NICU team got involved.

After lots of oxycodone, epinephrine breathing treatment, intravenous methylprednisilone (a.k.a. SoluMedrol), intravenous morphine, intravenous antibiotic, 3 boluses of fluid on top of his regular maintenance fluids, (and more steroids on the way)... Bertrand's heart rate is down to the 140s and he is much more himself.

We still don't know what went/is wrong.  Many of his labs, including the blood culture looking for signs of infection, are still pending.  However, we do know that his white blood cell count is high but his cortisol is low, which isn't helping any if he is trying to fight an infection (hence the additional steroids on the way).

So, yes, Bertrand is still keeping things interesting.  ;)  Fortunately, he is in good hands and we expect he'll be feeling better soon eventually.

PS - Happy birthday, Titi Saby! We wish we could be celebrating with you with all our hearts.  We love you!

Keeping things interesting

Bertrand had a rough night, but (*knock on wood*) it seems like he's in the clear.

Last night, his heart rate was in the 160s, his oxygen saturation was in the 80s with 8L of O2 blasting away, he wasn't eating or drinking, and he was vomiting blood.

Within the past hour, he has eaten yogurt, rolled around, started playing with his toys, watching his iPad, and torn off his O2 mask while keeping his saturation in the low 90s.

Matthew and I are increasingly optimistic that he could be discharged tomorrow--he *just* needs to start drinking and keeping his oxygen high enough.

A Bumpy Month

As I sit in Bertrand's hospital room, barely a month since we were last here, I have to admit that the past month has been a challenging one.  Bertrand's health has been touch-and-go more times than I care to count.  And, the same violent virus that wrought havoc on Bertrand has left Victoria, Matthew and myself low on physical reserves.  Our emotional reserves have been drained as well.

After Matthew's blogpost about Bertrand's medical journey, I made the mistake of reading comments on the internet about our family.  Never again.  While 99.9% of the people in the world are amazingly good (and I know that these are the ones I should focus on), that remaining 0.1% is of questionable humanity.  They hurt me more than I care to admit.

More critically, the path to a treatment for Bertrand is proving to be every bit as complicated or more-so than we anticipated.  Some of the earliest possible clinical trials start in 2013.  But the feeling that we are working against a clock increases with every hospitalization and additional symptom.  More often than not this past month, I've felt like we won't make it in time.

All that said, I am grateful for the friends and family who haven't given up on us.  Those of you who've offered love, support, and let us take the time necessary to lick our wounds--thank you.  As an introvert, I am notoriously quiet when wrapping my head around big issues.  Until I can chart a path out of this hole, talking is difficult.  I promise I am not ignoring anyone.  I'm just utterly focused and, if honest, exhausted.  Love, C

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.