Silent Auction for "Beating Epilepsy"!

A little friend of Bertrand's named Cole and his family are fundraising to get potentially life-saving brain surgery at the Cleveland Clinic. Please stop by their silent auction this Saturday, April 30th from 10:00am to 3:30pm!

Announcement of the Relocation of the Program for Neurodevelopmental Function in Rare Disorders

I am pleased to announce that the Program for Neurodevelopmental Function in Rare Disorders (NFRD) will be moving from the University of North Carolina at Chapel Hill (UNC) to the Children's Hospital of Pittsburgh of UPMC (University of Pittsburgh Medical Center). The Program will be receiving additional support for the infrastructure and clinical effort that will better serve our patients and their families. The NFRD will continue to collaborate with Duke University and the Gene Therapy Center at UNC. I will be maintaining a faculty appointment with UNC to continue our work towards developing alternative treatments for rare pediatric neurodegenerative diseases.

This move will be in concert with Dr. Paul Szabolcs acceptance to be Chief of the Division of Pediatric Bone Marrow Transplantation at Children's Hospital of Pittsburgh of UPMC. Dr. Szabolcs will be working closely with the NFRD clinic to continue the level of care that our patients have come to expect.

Unfortunately this move will require the NFRD to abstain from making clinical appointments for the months of July and August. However, please continue to contact us for any issues regarding patient care. We will start taking appointments for September during the month of May.

I apologize for any inconvenience this may cause our families, however, the closure is necessary in order to relocate to our new facilities. As always our hopes and best wishes are with all of our families.

Please watch for further announcements from the NFRD, which will provide details about our new facilities, as well as our new contact information.

Sincerely,

Dr. Maria L. Escolar

Bertrand's First Video: 12 months-old

This is the first video taken of Bertrand. It is January 1, 2009 and he is just 12 months-old. I'll admit to crying just now upon rediscovering it, because he could do so much more then than he can now. But, he is still every bit as adorable!

Victoria's Newborn Photoshoot

You can see some others of Victoria's newborn photos HERE.

These photos were taken last Saturday at 2 days-old.

It's amazing how much she has already changed!

Introducing Victoria!

Bertrand's little sister, Victoria Elizabeth, was born a week ago on April 14th at 12:56AM. She weighed 6 lbs. 7 oz. and measured 18.5 inches long.

At her first well baby check-up yesterday, she already weighed 6 lbs. 11 oz. and measured 19.2 inches long! Proving that her nickname of "Piranha Baby" is well deserved. ;)

She also goes by the name "Little Miss Sunshine". Just hours after being born, she was smiling and hasn't stopped since. :) She is calm, alert, and cheerful.

Her last and most embarrassing nickname is "Princess Poopy Pants". This one is pretty self-explanatory. :)

We feel so fortunate to have TWO beautiful, wonderful children in our lives!

Welcome, Victoria! We love you!

A Family's Perspective

Our family at this time last year, with Bertrand in the midst of his ACTH treatment.

Our family is participating in a research study being conducted by Duke University scientists: "Genomic Study of Developmental Delay and Congenital Anomalies of Unknown Etiology".

This is a landmark study that's using the full genomic sequencing of our family to determine the genetic nature, if any, of Bertrand's condition.

We were asked to provide a family perspective, on why we chose to participate in the study and what we hope to get out of it. This was our response:

Uncertainty inflicts a crippling emotional tax on parents as they watch their child suffer from an undiagnosed disease.

Can you imagine the unyielding second-guessing over whether your child's agony was your own fault or an act of chance?

Can you imagine wanting more children, yet never knowing whether it would be safe or responsible to have them?

Can you imagine being ashamed at your own jealousy over parents whose children have a terminal yet *named* disorder?

Can you imagine feeling that you can't do the right thing for your child because the information you need seems hopelessly beyond your grasp?

We haven't had to imagine. This is our reality.


We had taken our son Bertrand to dozens of hospitals and dozens of specialists.

His blood has been drawn so many times for so many tests that the scarred and needle-worn veins in his arms now offer no more than droplets.

We had given up hope of ever finding a diagnosis for our son.

The hypothesis has been that he was a de novo mutation, and likely the only one of his kind--firmly beyond the reach of modern medical diagnostics.


When Duke contacted us about the chance to participate in this study, we realized that this was the cutting edge science necessary to push modern medicine out to our son.

We know that the outcome of this study will not cure our child.

But, there is good reason to believe that it is our best and only chance at getting the information we need--the information to bring closure, peace of mind and the knowledge that we as parents are pursuing the best possible treatment for our child.

New Superstand Stander!

Bertrand received and was fitted for his new Superstand stander today. It is so cool! It's manufactured by Prime Engineering, the same company which developed his awesome KidWalk gait trainer. Superstand works as a prone, supine or upright stander without the need to purchase additional parts. Changing positions is as simple as changing from the headrest to the chin support and simply reversing the tray. We were all excited by how good Bertrand looked in it. See for yourself: