First successful orthotic fitting!

Bertrand was fitted for his first set of ankle-foot orthoses (AFOs) at Fit-Well Prosthetic & Orthotic Center today. Also known as braces, AFOs are usually plastic, encompassing the ankle joint and all or part of the foot. AFOs are externally applied, and are intended to control position and motion of the ankle. They can also be designed to control the knee joint indirectly.

Both of Bertrand's legs were fitted because of tightness in the ankles--his left ankle was getting particularly bad which was affecting his knees and spine. We chose the Cascade DAFO brand in part because they were highly recommended and also because, thanks to their thinner plastic, they would work well for daytime and nighttime use. He may grow out of them sooner, but we think they're worth it.

Bertrand looked a bit worried before the fitting started.

With all the scissors, saws, gloves and electrical tape?! being amassed on the table, I was a bit worried too!

But once the fitting started, Bertrand was all smiles. I guess the socks tickled?

The double layer of "socks" protecting Bertrand's leg.

Mama stabilizing Bertrand's knee and Bertrand surprisingly letting her.

The cast material being set on the leg.

Bertrand was very intrigued by the entire process.

Cutting the finish mold off with a cast saw. Yikes!

An almost finished mold!

A few more snips before the mold can be removed, packed and shipped.

And this is how Bertrand got through the second leg being cast: a powerful combination of Elmo and iPad. Together they could rule the world--according to Bertrand.

And this is the design Bertrand chose for his new AFOs!

ACTH here we come!

If our insurance approves it, Bertrand will be starting ACTH injections this week! This is exciting because if the injections work, they will work quickly. However, there is no telling how long the results would last (3-6 months? if at all?) or if he'll need oral steroids as a follow up. And, there are side effects. Bertrand will have irritability ('roid rage), gastrointestinal upset, cardiac/blood pressure concerns, elevated glucose, a suppressed immune system, and that's just in the short term. In the long term, there are bone density concerns as well. For the 4 week course of ACTH, Bertrand needs his blood pressure taken twice a day and he cannot go to daycare, preschool or be exposed to crowds. (Sadly, this includes his once a week "preschool" time at The Carmen B. Pingree Center.) The shots will, at least initially, be administered by a home nurse twice a day, and then Matthew and I will be trained. But if the ACTH works, all the effort will be worth it! I don't even want to think too much about it or get my hopes too high in case it doesn't work, but there is a small chance I may get to meet my son for the first time! What mother couldn't get excited about that?

Other major topics touched upon at the neurology appointment today included the results of Bertrand's SCN1A testing: negative. This was a genetic test for Dravet's syndrome--a devastating genetic epilepsy disorder. Unfortunately, I couldn't finish taking a sigh of relief before the neurologist brought up Unverricht-Lundborg Disease and Lafora Disease, two new potential diagnoses for Bertrand. ULD is chronic, debilitating and can cause death while Lafora is absolutely fatal. Both start as myoclonic epilepsy and both would explain Bertrand's elevated liver enzymes--and that's why a liver biopsy is back on the table. If they find inclusions in his liver, *bing bing bing* they may have a winner. While a diagnosis would help family planning, I really hope it is not either one. We'll revisit Lafora and ULD after ACTH.

A grab bag of other issues were discussed: the new rapid DNA sequencing facility (more on that later), Bertrand's last EEG (it was improved! there were periods with no spikes!), IVIG (another potential treatment which the neuro doesn't think would work in Bertrand's case), leukodystrophy (very heartening: his neuro thinks his epilepsy may be causing the white matter damage, not the other way around!), stem cells (she didn't laugh at us, which is a plus, but said there are several less expensive, insurance-covered options we can try first), medication (she wants to possibly add zonegran after the ACTH), orthotics (Bertrand needs braces/AFOs because his ankles are starting to lose flexibility), and the DSPD waiting list rejection (it is preposterous and she is writing a letter of diagnosis. The diagnosis? Doose Syndrome).

For now, Bertrand's next EEG has been scheduled for May 17th and we're waiting to hear back from the nurse within the next 2-3 days. In the interim, I will email a few parties "in the know" in regard to ACTH and the ketogenic diet. I am not fully comfortable with the information available to our group here about that. Fingers crossed, everyone!

Just a note on the iPad and DSPD

The least blurry of the "Bertrand using iPad" photos. Look at him tap away!

The past few days have been busy with all the yard and house work that spring time always seems to bring. The list of questions for Bertrand's neurologist is set for tomorrow's appointment, which is sandwiched between preschool and hippotherapy.

But what was Bertrand up to this weekend? Playing with his new iPad, of course! Bertrand watched Elmo videos, listened to music, played baby piano, drew pictures, flipped baby flashcards, read ebooks, and played videogames (the last two with help from Mama and Dada).

The device is so sensitive that Bertrand gets instant feedback from the slightest glance of his fingers--this ensures that he is fascinated by it! The iPad seems to have given Bertrand a new awareness of what his hands are capable of, and he has since been caught touching his own feet and playing with his Mama's hair!

We're looking into a picture communication program (either purchased or custom programed) for the iPad as well.

One sour note this weekend was receiving notice that Bertrand had been denied a spot on the waiting list for services by the Utah Division of Services for People with Disabilities (DSPD). Mind you, this waiting list is 4 to 7 years long, but for Bertrand to be denied a spot on the list was the ultimate in stupidity. I plan on appealing the decision and, if that doesn't work, seeking assistance from the Disability Law Center, the Protection and Advocacy agency for the state of Utah.

Stem Cells: Response from Duke University

I received your emails about Bertrand and also had his MRI reviewed by the neuroradiologists at Duke. Unfortunately when they reviewed Bertrand's MRI, they didn't see any areas consistent with hypoxic injury. They also thought that the scan was a little worse as compared to the scan that Bertrand had at Duke. They were specifically concerned about the area in the Post Centrum Semiovale. They did comment that the quality of the scan was suboptimal. With this information, I don't see a reason to think that infusing Bertand's cord blood cells would help him. On the other hand, they wouldn't hurt him so we'd be willing to do it if you would like. Just let me know.

Matthew and I have some thinking to do.

Hippotherapy 2010 Begins!

Yesterday, Bertrand had his first hippotherapy session since last summer!

This session was mostly an evaluation, and he'll start in earnest next Monday.

Bertrand rode backward, forward, sideways and blindfolded!

And, as usual, he felt asleep on the horse.

And this morning, his therapist sent us this beautiful note:

"Bertrand has been on my mind since we saw you three yesterday. I feel a deep and amazing connection with him. (You must hear that all the time!) But when he looked me in the eyes and smiled over and over I feel that he was letting me know that he's ready to move forward....as if he is not in "thriver" mode anymore but instead "survivor" mode now as I can relate to. He is such a wise old soul and I'm so excited to be able to play a small part in his upcoming progress! :)"

Bertrand's First (Mama) Hair Cut

This morning I woke up with the desire to hack Bertrand's hair off. Don't get me wrong, his unruly mop of curls was adorable but it was getting difficult to manage and a little too feminine.
So like countless Mamas before me, I wielded clippers and scissors in an attempt to tame my son's unruly mane. To avoid cutting off too much, I did the first pass dry.
While it was easier to gauge the finished length, it was more difficult to get the cut even while dry. (So, there was a little, rebel, "devil horn" sticking off to the side of his head all day.)
After his bath tonight, Bertrand received a second pass on wet hair. I am pretty pleased with the result, which I am terming a "modified crew cut". I think he looks adorable, if a little more mature... and he still has both eyes and ears. No small miracle.
I feel like I earned a long-overdue mommy merit badge today! Yay!

Bertrand Speaks Out!

At today's Parents' Epilepsy Support Group Meeting, Bertrand showed off by smiling and speaking to everyone at the table! He thinks that the next meeting on May 8th should be at 11:30 AM at our house, and so it shall be! We're so proud of our little activist!

Second gene associated with sudden death in epilepsy found in brain, not heart

HOUSTON -- (April 13, 2010) -- Sometimes, the brain and the heart are connected in devastating ways.

A protein switch in the brain linked to one of the most common forms of epilepsy or seizure disorder may also cause heart rhythm disturbances and even sudden unexplained death in epilepsy, said researchers from Baylor College of Medicine in a report that appears in the current issue of the Journal of Neuroscience.

Looking for ways to reduce risk

"This switch, which is an ion channel called Kv1.1, is actually the second gene we have found to be associated with sudden death in epilepsy," said Dr. Jeffrey Noebels, the study's senior author and director of the Blue Bird Circle Developmental Neurogenetics Laboratory, where the study was done. Noebels is also a Cullen Trust Endowed professor of neurology, neuroscience and molecular and human genetics at BCM.

"Now that we are starting to grasp the genes and proteins underlying sudden death in epilepsy, we can begin to predict and find ways to reduce the risk of death in patients with epilepsy," he said.

Most people with epilepsy have a normal lifespan. However, as many as 18 percent of deaths in epilepsy come suddenly without warning. These deaths are called sudden unexplained death in epilepsy because, apart from seizures, those who die are healthy. There is no obvious reason for their deaths.

Previously, Noebel's laboratory had identified an ion channel gene associated with a heart problem called long QT syndrome that could also trigger seizures and life-threatening heart rhythm problems.

Heart rhythm problems

Now this protein, associated with the Kcna1 gene, may be responsible for heart rhythm problems, although it is present in barely detectable levels in the heart.

The protein acts as a brake that regulates signaling in brain cells by allowing the flow of potassium ions across the cell membrane. In the nervous system, Kv1.1 channels have been studied extensively for their role in preventing abnormal generation of nerve impulses. When Kv1.1 protein is missing, individuals can have spontaneous seizures (epilepsy), motor coordination problems (ataxia), and involuntary muscle movements (myokymia).

Kv1.1 channels

Studies in mice in Noebel's laboratory found for the first time that Kv1.1 channels are required, not only for normal brain function, but for proper heart function as well. When mice lacked Kv1.1 channels, their hearts began to skip beats intermittently. These skipped heart beats became more pronounced during seizures, suggesting a functional link between the heart and brain.

The researchers found that the Kv1.1 channels are normally present in the vagus nerve, which physically connects the brain and heart and helps regulate proper neurocardiac interactions. The vagus nerve provides nerve fibers to the throat, voice box, windpipe, lungs, heart, esophagus, and the intestinal tract. It also brings sensory information to the brain from the ear, tongue, throat and voice box.

"In mice without Kv1.1 channels, we think the vagus nerve loses control, sending extra nerve impulses to the heart telling it to slow down and even stop beating when it shouldn't," said Dr. Edward Glasscock, a research associate in the department of neurology at BCM.

Most of the mice who lacked this protein switch died prematurely. Researchers observed seizures in a mouse who lacked the Kv1.1 protein. These seizures caused the heart to stop repeatedly until the animal died. The events closely resemble those reported in a few witnessed instances of human sudden unexplained death in epilepsy.

Other researchers who took part in this work include Jong Yoo, Tim Chen, and Tara Klassen, all of BCM.

Funding for the study came from the the National Institutes of Health, the American Heart Association, and the Blue Bird Circle Foundation of Houston.

Hippotherapy Restarts This Monday!

Bertrand was accepted back into the National Ability Center's hippotherapy program! YAY! Hippotherapy (hippo is Greek for horse) is a horse-riding-based form of occupational therapy. Bertrand likes it. The NAC is located in Park City, UT--where Bertrand's grandparents are buying a home! He starts this coming Monday, April 19th at 6:00PM. This is a pretty late slot (the earliest of the remaining 3 slots), but this means Daddy can come! Bertrand's therapist will be a new one named Lisa rather than Kim, who we loved, but everyone at the NAC is great so I am sure we'll love Lisa too. These Spring Session II classes will run through May 24 and then he may get better time slots for Summer Session I (June 7 - July 7), Summer Session II (July 19 - August 18) and the Fall Sessions.

In honor of restarting hippotherapy, here is a "classic" video of Bertrand riding a horse at a hippotherapy session. Enjoy!

Today's EEG - Not so good?

Some days I resent my MD from wikipedia. Today is one of them. I wish I were one of those parents who could blithely go along with doctors and accept what they're told... Not really. That would be a heck of a lot easier than the hell I am putting myself through today, but someone needs to be awake at the switch for Bertrand's sake. Apparently that person is me.

Okay, enough preamble. What did Dr. Mom get from Bertrand's EEG today?

First of all, and this should be obvious, sleep deprivation for a child with epilepsy is a BAD idea. This is the first EEG Bertrand has been sleep deprived for and it sucked. I guess for most kids it helps them fall asleep and not move as much, but let's be honest with ourselves here: Bertrand has a movement disorder. His last sleep study confirmed that he moves almost as much asleep as he does awake--which is saying something. Furthermore, rather than seeing the new, improved Bertrand we got the old, seize-y, exhausted Bertrand. His new EEG looked like this:




Could this be slightly better than his older one? You be the judge.

Secondly, this EEG confirmed that Bertrand has photosensitive epilepsy, which we suspected. During the intermittent photic stimulation Bertrand's EEG looked like this:



Now, what had me really upset about this EEG wasn't the brain portion as much as Bertrand's electrocardiography (ECG or EKG) line, which is an interpretation of the electrical activity of the heart, during this EEG. Whenever Bertrand moved or sighed really big the EKG would hitch a little (which is normal) but during this period Bertrand was completely STILL. Here is the series of images of that over a period greater than a minute--look at the red EKG line on the bottom.







At first I thought that there was something wrong with the contact on B's chest, but as you saw, the EKG returned to normal on it's own. Since there was no video recording of this EEG, the technicians were under the impression that Bertrand had simply been moving or fussy during this period--which wasn't the case! Bertrand hadn't moved at all! So now I am faced with the decision of whether I should bring this up to B's neurologist. I happen to know that Bertrand's echocardiogram done at Duke was perfect. Will his neurologist think I am crazy? a pest? Or even worse, could this serve as a red herring, causing her to take even longer to adjust Bertrand's treatment? I really don't know if I should say anything. I'll have to consult with my favorite neurologist first.

Based on this EEG, I think that Bertrand may still be on track for trying ACTH treatment for his seizures (which would require coming off the ketogenic diet first). Furthermore, whether or not there were any changes in the EEG doesn't matter because, as my daddy always says, "you must treat the patient, not the EEG." Bertrand HAS improved over the last few months: he is more stable, he is smiling, he is laughing, he is more verbal, and overall his quality of life has improved significantly. And, that's what matters.

UPDATE: Whew! Spoke with my Dad in regard to Bertrand's EEG. The EEG is still highly abnormal (duh) but he thinks the one bad EKG episode may have been due to electrical interference from another electrode, since Bertrand was having a particularly bad subclinical seizure. Part of what suggests this is that the red line went from resembling an EKG line to resembling an EEG line, the other part is that Bertrand is still alive. Lovely.

Real Bertrand vs. Fantasy Bertrand vs. Super Fantasy Bertrand

Every once in a while, I'll have a conversation that shocks me. I had one such conversation yesterday but it has taken me until now to wrap my head around how the other person may have reached that view point. As any parent in my situation quickly learns, no one (no matter how close a family member or friend, no matter what kinds of other loses they may have faced, no matter how well intentioned), no one understands what I am going through like another parent in a similar situation. (I love you, Carrie!) Still, sometimes I make the mistake of assuming that friends and family understand more than they actually do--which results in shocking conversations like the one I just had.

I have a tendency, whether genetic or out of necessity, toward optimism. This blog is slathered thickly with my optimism. Well, what happens when someone takes my optimistic vision and layers it with their own (medically-uninformed) optimism? You get Super Fantasy Bertrand! This Bertrand is a pretty amazing guy. He'll be a mischievous older sibling, cook, read, attend normal school and then college. Heck, he even has a shot at winning a Nobel Prize like his namesake. I was shocked by how specific and unrealistic (at least if you've ever attended one of Bertrand's doctors' visits) this Super Fantasy Bertrand was!

Contrast this Super Fantasy Bertrand to what would be my Fantasy Bertrand. My Fantasy Bertrand would be lucky enough to live to his mid to late twenties. He'd use a walker eventually but likely need a wheel chair. He'd wear diapers and probably still need me to feed him. He'd really enjoy his special education! My Fantasy Bertrand would learn how to use a communication device and someday call me Mama! He'd stay my beautiful, happy baby no matter what and would die a hopefully painless death due to his leukodystrophy (white matter loss) and organ failure. This would be my Fantasy Bertrand--if I should be so lucky.

But Real Bertrand doesn't need to be like Super Fantasy Bertrand or Fantasy Bertrand to be a pretty amazing guy. To me, he already is. I couldn't ask for a braver little warrior. That's why I don't waste time thinking about a Fantasy Bertrand (much less Super Fantasy Bertrand). I love my REAL baby boy each and every day for the person he is. And, I hope everyone else will learn to do the same.

A Grateful Morning

I've been hesitating to make a post about the following out of an irrational fear that I may somehow jinx it: Bertrand has been doing really well! He seems to be back to his physical capability before the arm break in February, but that's not all. Bertrand is more verbal and expressive toward people. He is smiling and laughing more than ever before. When alone in his room it sounds like he occasionally sings songs to himself--not babbling or cooing--music is the only accurate term for it. Another odd positive is that he is louder! Since he was an infant Bertrand's volume has always been muted, but as of this week he sounds as loud as a normal toddler! He's been having clumps of what we call "seizure free" days (days free of myoclonic, astatic/atonic and tonic seizures), but also a lot less of the seizures we can't easily count, such as the absence or complex partial seizures. He is so much more "here".
Here is a story from this morning to illustrate. At 6:30 am Bertrand woke up for his bottle. I fed him and afterward tried to put him in his bed because he usually takes a short nap until about 8am. Well, today he wasn't having it. He started yelling--not crying--yelling immediately. So, I turned back to him (I could tell he was still tired even though it sounded like he was cursing me out) and asked him, "Bertrand, would you like to sleep with Daddy?" He immediately quieted and put his hands together as he does when he is very interested in something. Then he arched his little back to tell me to pick him up. I did and put him in bed with Matthew. Bertrand gave me the biggest grin, cooed (a thank you, as I would like to believe), smiled a sleepy smile again and closed his eyes. And, that was it! How wonderful is that?! I took a moment to stare in awe at my two amazing, beautiful, sleeping guys, basking in the feelings of joy and gratitude. As I went downstairs to make muffins, I couldn't help but feel that life couldn't get any better. :)

Such saggy muffins are what you get when you forget to adjust baking recipes for high altitude. They tasted great though!

We Won! A Utah Family Portrait Session!

I've been searching for a new family photographer for a long time. As cute as an 11 month-old Bertrand is, he is now almost 28 months-old, so the blog banner needs an update! Well, we've serendipitously found one! Our friend over at Bookscoops, Cari, recommended the talented and generous, professional photographer, Jessie Lynne (who took Cari's daughter's photos). It just so happened that on her own blog Jessie Lynne was hosting a family portrait session giveaway. We entered and won! The session includes a 1-1.5 hour photography session, digital negatives on cd, 1 designer design, 5 4x6's to give away, 5 4x6's to keep, 1) 5x7, and 1) 8x10. To say we're excited would be an understatement! Thank you, Jessie Lynne!

NEW Parent's Epilepsy Support Group!

From left to right: Me & Matt with Bertrand, Sarah & Adam with Cole,
John & Ashley with John Jr., Niki & Brian with Cole.

Last weekend, four families and one representative from the Epilepsy Association of Utah held the very first Utah Parent's Epilepsy Support Group meeting! I can confidently say that everyone got a great deal out of the meeting, except possibly the "dieters" themselves (as you can tell from the picture above), who were all under the age of two. :)

The meeting was put together and hosted by Ashley and John, parents to John Jr., who, while Utah natives, currently live in California. Also in attendance were Niki and Brian, parents to Cole, and Sarah and Adam, parents to Cole. All four boys are either on, or will be on, the ketogenic diet.

While the group was originally established as a way to connect families with children facing the ketogenic diet, it's being opened up to families of children with forms intractable epilepsy, such as Dravet's Syndrome and Doose Syndrome (MAE) who may or may not be on the ketogenic diet.

The meetings will be held monthly at a member family's home so that all children (including siblings) will be welcomed. And, no one will judge or seem even remotely surprised if a child has a seizure, needs a diaper change, cries, or sleeps the full time. It was such a relief to be in a room where no one gave us odd looks for Bertrand's behavior!

An asset worth mentioning of this group is Niki who, as noted above, is mom to Cole and has also battled epilepsy herself since childhood. Furthermore, she has a background as a service provider for the Utah Division of Services for People with Disabilities (DSPD). Given my ongoing struggle with the DSPD, I am looking forward to learning more from Niki! Maybe I can even convince her to grant our first blog "interview"? ;)

Breaking News!

Perez Hilton is reporting that Bertrand T. Might and Shiloh Jolie-Pitt have ended their year-long romance. The stunning break-up of "Shitrand" brings a discouraging end to the U.N.'s secretive "Beautiful People Breeding Program" (BP2) in only its second generation of trials. Representatives for both parties have declined comment, citing the painful split and a need for privacy.

Ladies, he is single.