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:

Extended School Year Services

Bertrand qualified for Extended School Year (ESY) Services! Hurray!

For those who are curious, the following is now part of his IEP document:

Medication Update (& Baby Watch)

Bertrand & Mama cuddling on the couch.

The lap space may be getting tight but there will always be room for Bertrand!

Medication Update:

• While Bertrand's depakote levels were barely in effective range at their trough, his lamictal level was 9 at trough with an effective range of 3-14. This means we can't raise his lamictal.
• Bertrand's depakote was raised to 375mg (125mg AM, 250mg PM) and resulted in a night owl! The medication is supposed to make him sleepy, but fewer seizures make him more conscious and interactive. Once the level evens-out in his blood, this should resolve.
• Bertrand will get his all of his blood levels (including medications, liver, vitamin D, carnatine and others) drawn in another 1-2 weeks. There is concern for his increasing liver values.
• He will then have another blood draw on May 17th after seeing his neurologist. She says that depending on his seizure & liver activity, we will consider raising Bertrand's keppra next.

Baby Watch:

Regular readers of this blog know that Bertrand's little sister is due today! Plenty of signs indicate that she will be joining us soon. We will keep you all posted. :)

Hallelujah! Finally!

The response from Bertrand's neurologist:

I asked our nurse to help with ordering labs: lamictal, trough depakote (1-2 hours before his dose of depakote ideally), CBC, CMP, and GGT (to make sure his liver function abnormalities are liver related). If these are fine, I will ask to increase his depakote further to 1 pill in am and 2 pills in pm or 375mg/day. If labs are not good, will have to discuss with you how to help with the myoclonus--these can be tricky to treat.

As for the carnitor, I agree with keeping him on it while on depakote. A multivitamin with good vitamin D source would also be good.

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Bertrand was sent home from school today for "wheezing". His oxygen saturation is fine. And, of course, he has been happy and playful since he got home. The little faker. ;) Better safe than sorry, though!

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UPDATE: So, Bertrand wasn't faking the cold. According to the blood work from this afternoon, he is definitely sick if cheerful. Because of that, I'm not putting much stock in his CBC numbers.

Disappointingly, Bertrand's liver enzymes were all elevated. ALT 82 (normal range: 5-45), AST 79 (normal range: 20-60) & GGT was 64 (normal range: 4-15). Granted, this is the lowest his GGT has ever been, but it breaks my heart to see his ALT & AST values creep up again.

Bertrand's trough depakote level was 57.7. Effective range is 50.0-125.0, so it is just barely in the effective range and definitely needs to be increased. This could lead to even more elevated liver values. Only time will tell, but all the more reason to keep monitoring him!

Uncle Steve's Visit

Bertrand's awesome Uncle Steve, Titi Saby's fiancé, visited this past week! In spite of some bad luck (a car accident & parking ticket), we had a great time! We can't wait for him to move out here later this year. :)

Uncle Steve and Bertrand reading books together.

Matthew, Steve & Bertrand play Wii Lego Batman, while Titi Saby takes a nap.

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This weekend, we were fortunate to discover our new, favorite, Puerto Rican restaurant: Adobos Caribbean Grill! We'll probably eat there once a week from now on!

Museum of Ancient Life

A rant on medication...

Bertrand's seizure medication levels are as follows:

• Lamictal level is 10.6 (effective range: 3.0-14.0) @75mg.
• I would like the Lamictal held steady.
• Depakote level is 28.3 (effective range: 50.0-125.0) @125mg. Now @250mg.
• I would like an additional 125mg before bed to decrease sleep-related clusters.
• Keppra level is 26.9 (effective range: 5.0-45.0) @800mg.
• I would like to eventually wean Keppra to decrease sleepiness and rage.

Bertrand's neurologist made a BIG DEAL about the caution needed with medications such as lamictal and depokote, which are metabolized in the liver. In fact for close 2 years, Bertrand wasn't put on these first-line epilepsy drugs because of this overwhelming concern for his liver.

His doctor emphasized the need for frequent lab draws and supplementation with carnitine (protects the liver) and vitamin D (because it binds with depakote/valproic acid) as a HUGE must, if we insisted on taking the risk of putting Bertrand on these medications!

So basically it is MY fault if anything goes wrong. Okay, fine. I'm risking my child. I am confident enough in my research and second opinion from Cleveland to take this risk. BUT, as far as the required precautions go, I CAN'T ORDER LABS OR WRITE PRESCRIPTIONS!!!

The past month has been nothing but radio silence from his neurologist. She is not responding to calls or emails.

Bertrand's labs need to be checked SOON! (It's been a month!) And he needs his depakote prescription increased! (He's having myoclonic clusters!) And his carnitine prescription is about to run out! (His liver! Remember!?)

Sure, Bertrand's liver has shown improvement as of late, but given that his neurologist hasn't even looked at his lab results SHE DOESN'T KNOW THAT! (Also, strong precautions, such as checking LFTs, CBCs, medication levels, carnatine & vitamin D levels, etc., are taken with patients whose livers are completely NORMAL!)

Hormones aside, I feel I am justified in being furious. My calls & emails go into a void when my child's life is at risk! And, every seizure he has could be exacerbating his brain damage.

I've been escalating my communication efforts, and trying different channels to reach her. If I don't hear anything on Monday, I may very well show up in person next week!