Physical Therapy: Session 9/28/09

24-Hour EEG Results

Oh yeah, I forgot to mention that Bertrand's 24-hour EEG was read yesterday by four neurologists, including Dr. Colin Van Orman, an epileptologist. Bertrand's EEG was highly abnormal. There was lots of noise, focal seizures and generalized seizures. Bottom line: they all agreed with the April 2009 Duke University finding of multi-focal epilepsy.

Let me take a moment here to explain something that until a few months ago was not clear even to me. Conditions like epilepsy and autism, both of which Bertrand has, are really symptoms, not stand alone diagnoses. Like a runny nose can be caused by viruses, bacterias, allergies, genetics, etc., so too can epilepsy have a variety of root causes. The same goes with autism. In Bertrand's case the root cause of both is believed to be an undiagnosed genetic disorder.

The Full Truth

In Bertrand's new room on a wall there is a quote from Ralph Waldo Emerson:

"When it is darkest, men see the stars."

Over the years it has grown in significance for me. It is about how we often see the greatest side of human nature (charity, heroism, love) only when it is evoked by human nature is at it's darkest (poverty, war, hate). It's about having to face challenges in order to finally realize how precious something truly is. And, at its core, it is about optimism and always holding onto hope.

Well, sometimes I may be a bit too optimistic and don't always convey the most accurate picture of what life with Bertrand is really like. For many, yesterday's emergency room visit came out of no where, when for us an emergency room visit wasn't a matter of if. It was a matter of when.

For maybe the second time in his life, Bertrand had a fever this week. On Tuesday, after coming home from his EEG, Bertrand was very sedate--very quiet and still. He went to sleep early. On Wednesday he "woke up" with a fever (ranged from 99 - 101 degrees), so I gave him Motrin.

I say "woke-up" because he was barely there. :( I have never been so scared in my life. He wasn't moving at all! He would just stare with no blinks. You could snap in his face, shake him, pinch him, touch his hands, hair, eyes... no one was home. It was like holding a baby doll. He spent about 80% of his eyes-open-time like this and then he took three very long naps (he takes one nap normally).

The Motrin worked at controlling his temperature, but he was clearly having severe, prolonged absence seizures. Unfortunately, Valium rarely works on absence seizures, and such was the case with Bertrand. I left (somewhat hysterical) messages with our neurologist's office. Thursday came and Bertrand was improved. I got some eye contact and a few smiles, but he was still not himself--no babbling, no interest in toys, and even more telling, no interest in spinning. I left another message at B's neurologist's office and sent an email.

By Friday I was a wreck because, while Bertrand's fever was gone, he was still not my baby--he was a Bertrand shell. Not the Bertrand I know and love. He had an appointment with his fabulous rehabilitation doctor, Judy Gooch. She took one look at Bertrand and paged the neurologist on call (Dr. Denise Morita) to report his "near constant seizures" and "severe functional impairment". Dr. Morita recommended we take Bertrand to the emergency room.

So we did, and the rest is history. I'll admit, a small (okay, a BIG) part of me was hoping that the Keppra would be a miracle drug. Bertrand would take it and suddenly I'd have a near normal, if delayed, baby. Well, so far, all it has done is get Bertrand back to his version of normal. He has all of his tiny seizures, movements, and irritability back. But, he also has his babbling, smiles and giggles back, and I feel like the luckiest woman alive. My baby is home. :)

Bertrand passed out, seizing on the exam table at the emergency room.

Bertrand receiving his Keppra transfusion while being comforted by his worried Daddy.

Bertrand at home with his doggies, feeling much better!

Home

We decided to take Bertrand home rather than have him stay in the ER overnight. (We live 4 minutes from the hospital, so we can rush him back if there's a problem.)

He's received the full dose of his medication, and we're just watching to see if the seizures subside now.

He had an extended seizure in front of three neurologists in the ER, and one of them remarked, "If that's not a seizure, I'm not a neurologist."

We're seeing more smiles out of Bertrand right now, and it seems that the seizures have diminished in frequency. We're hoping they'll be gone tomorrow.

We'll try to post more frequent updates.

Bertrand in emergency room

We're in the emergency room.

When Bertrand saw Dr. Gooch this morning, she was disturbed by the frequency and intensity of his seizures. She said he needed to begin antiseizure medication immediately and sent him to the emergency room.

Bertrand is midway through a megadose of Keppra by IV, and we'll be monitoring him closely for 24 hours for side effects and any signs of improvement.

As of this moment, we're still seeing seizures, but it can take a while for the medication to take effect.

The New KidWalk!

After months of waiting (we initiated the search last April), Bertrand finally has his fire engine red KidWalk! The KidWalk is a fancy schmancy gait trainer that was developed at Stanford University. It is easy for me to adjust and transport while for Bertrand it is easy to walk and move his hips laterally (which other gait trainers don't really allow). Isn't he adorable in it? :)

Bertrand looking proud and satisfied in his new KidWalk!

Bertrand Loves the Angels!

Bertrand looking like he ran a few innings after his EEG, but happy to get wonderful presents!

Bertrand finally has a favorite baseball team: the Los Angeles Angels of Anaheim! You can imagine how surprised we were to come home from the exhausting over-night EEG to find a box of goodies from the Angels sitting on our front porch! Enclosed was an amazingly kind note from Carole Moreno, wife of Artie Moreno, the owner of the Angels.

Bertrand falling asleep while cuddling with his Angel's Monkey (now hanging from his bed).

A follow-up call to my mother-in-law revealed that while Bertrand was staying with her in Arizona last week (while our house and his room were being painted), Bertrand actually met Mrs. Moreno. She was captivated by his adorableness and, in turn, Bertrand was enthralled by her! I am still floored by Mrs. M's graciousness, while Bertrand is on the floor playing with his monkey with its red and white tissue paper. The Angels have a new fan in me too. :)

Early Intervention's Annual Review

Today, Bertrand and I met with all his Early Intervention service providers (Kirsten, Meghan and Linda) to go over the results of his yearly testing and set new goals. You can see big improvements, particularly in the self-help and social domains, from the testing he had 6 months ago! Yay Bertrand!

NEW Results (August 2009)

• Gross Motor: 8 months
• Fine Motor: 4 months
• Visual Reception: 6 months
• Receptive Language: 10 months
• Expressive Language: 6 months
• Self-Help: 8-10 months
• Social/Emotional: 12-15 months

OLD Results (March 2009)

• Gross Motor: 7 months
• Fine Motor: 4 months
• Cognitive: 6 months
• Language: 5 months
• Self-Help: 0 months
• Social/Emotional: 6 months

Summary of the 24-Hour EEG

Not surprisingly, based on my reading of his EEG, Bertrand still appears to have what the Duke folks termed "multifocal epilepsy". Unfortunately, according to Bertrand's neurologist, we won't be getting the results on Bertrand's EEG back for another one to two weeks. It may be even longer until we can work with an epilepsy specialist to get him treated. :(

Bertrand calmed his nerves by playing the Wii with his Daddy minutes before leaving for the hospital.

Bertrand put his game face on right away and was the perfect patient!

Bertrand slept soundly in his baby jail. Unfortunately, his mommy on the couch did not--the nurses coming in every hour would wake her up. Luckily, Bertrand slept through it all.

The following is a series of stills taken of the EEG monitor during Bertrand's sleep. Just about any 15-second interval during the 24-hours had at least one "XL Spike" and/or "XL Event" in it. I was not surprised by the impressive looking Spikes and Events during his waking hours (accompanied by staring, eye flutters, mouthing, teeth grinding, and startles), but these images were taken when he was completely still.

To put things in perspective, here is an image of what a normal EEG looks like:

Bertrand in hospital

Bertrand will be in the hospital until tomorrow afternoon getting a 24-hour EEG. His seizures have increased in frequency and duration, and we're trying to figure out why.

In the mean time, enjoy some pics of our adorable little marshmellow head.

Bertrand jacks into The Matrix.

Bertrand finds Agent Smith.

Bertrand wonders why he didn't take the blue pill.

Done saving the world, for now.

Facing Bankruptcy

...email bankruptcy, that is. Matthew was able to pull back from the brink with a miraculous 48-hour push to go from 370 emails to now only 60-some emails. That was a Herculean effort on his part, but I, unfortunately, am too far gone. There are currently 8,967 emails in my inbox. (Now 8,968.) It would take me 2 months to clear it all out if I worked at Matthew's rate, but with Bertrand, that's just not going to happen. So, it's time to face reality, declare email bankruptcy and start fresh. I would've never believed, even a year ago, that the woman who obsessively kept her inbox to under 10 for a decade, would have to resort to this.

24-Hour EEG

Woo hoo! After two months of hounding people, Bertrand finally has his EEG scheduled!!! The following is from Bertrand's pre-admission paperwork.

Bertrand Might has been scheduled for a long-term [24-hour], video monitored EEG (CCTV) on Monday, September 21, 2009. Plan to arrive at Primary Children's Medical Center at 2:30PM. [The test should end by around 3:00PM on September 22.] Due to the nature of the test, your child will be limited almost entirely to the bed. There is room for one parent to remain overnight although both parents are welcome to stay with the child during the day. Because this is a medical procedure, no visitors will be allowed during your child's visit. [...] We need your child to have CLEAN, DRY HAIR with no conditioner or other additives in the hair.

UNC/Duke Report

Last week was an informative one! The experts in Neurodevelopmental Function in Rare Disorders at UNC and Medical Genetics at Duke are top notch. One leaves their clinics with so much new information (so much of it actionable) that it is a little bit overwhelming. That said, I'll do my best to summarize what we learned.

From UNC:

Dawn, physical therapist

• She said Bertrand is very close to being able to get to sitting on his own.
• She said he needs to practice getting off his y-axis: trunk rotation, balance, coordination.
• She said he needs to stand while weight bearing on his arms.
• She said he needs to reduce his back arching.
  

Sheryl, speech therapist

• Sheryl is a new therapist with the NFRD group with little to no experience adjusting cognitive and linguistic tests for kids with physical limitations.
  
• She tested Bertrand differently from the prior speech therapist at NFRD and found cognitive and linguistic regression (now 6 month-old level) in him.
• Both Dr. Escolar and I are focusing on findings from the parent questionnaire, which shows he has developed significantly in these areas since last time.
  

Dr. Holly Martin

• She would like to see Bertrand closer to 25 percentile weight.
  
• She suggested working with a nutritionist to attain weight and nutritional goals.
  
• She provided thickening medium to add to fluids to encourage drinking from a cup.
  
• She would like an EEG as Bertrand's absence (petit mal) seizures are worsening.
  

Dr. Maria Escolar

• She does not trust the negative oliggosaccharide (a.k.a., GAGs) screen as it returns high false negatives and would like it retested at the UAB lab.
• If the Glycosaminoglycans (GAGs) return elevated, she recommends working with a biochemist to back solve for which enzyme Bertrand is missing.
  
• Due to concerns about Bertrand's basal ganglia, she would like to see an MRI in October, 6 months after his last MRI.
  
• She would like to see Bertrand tested for Pelizaeus-Merzbacher disease (PMD).
• She mentioned that if Bertrand's condition is one of the metabolic ones then standard anticonvulsants (seizure medicaitons) won't work well if at all.
• She sees Bertrand's inability to self-soothe as the biggest immediate concern and one we should work feverishly on.
  

From Duke:

Dr. Vandana Shashi

• She said that Bertrand does not have microcephaly. Both measurements taken at Duke placed him between the 10th and 25th percentile. (Yay!!!)
  
• She thought that Allgrove syndrome was not out of the question and ordered genetic testing for it.
  
• She requested and drew additional DNA from Bertrand to use if she comes up with additional tests she'd like done.
  
• She said that Bertrand seemed very improved and would venture that his condition may not be neurodegenerative. (Yay x2!!!)
  
• She noted that his seizures were worse and attempted to get an STAT EEG at Duke, but unfortunately the hospital was full.
• She believes that a trial of anticonvulsant, with little to no liver involvement and liver monitoring, is called for.
  

Dr. Joanne Kurtzberg

• She candidly said that can't help him.

This post is not perfect. I will try to add more items as I remember them. I also can't forget to mention that, while there, we had a fantastic time with our North Carolina family! Kelly, Rob, Julie, Ben and Luke--Thank you!

Photo Firsts From Last Week

Bertrand playing on his piano during his first trip to Lake Nottley. (Georgia)


Bertrand eating (the sugar off of) his very first Dunkin Doughnut! (North Carolina)


Bertrand's first attempt at mutiny: taking over the Captain's cabin. (Maryland)

Bertrand's First Sail

Bertrand loves sailing!

Bertrand learning from his Nana.

Bertrand cuddled up watching the sails & gulls.

Bertrand taking a quick nap aboard "Between the Sheets".

Bertrand reading with his Aunt Jess.

Bertrand at the helm with his Uncle Dan. (It was windy!)

Bertrand was having a great time plastered against the lee cloth in his bunk while the railing was in the water. :)

FINALLY! MECP2 Gene Test Results!

"Rett Syndrome: Negative. No mutations detected in the MECP2 gene."

While I'll admit I did a 5 second happy dance, unfortunately, this is not as straightforward as it seems. (A) While MECP2 mutations count for something like 95% of all Rett syndrome cases, there are two additional genes it could be. (B) The fact that Bertrand is MALE and ALIVE and NORMAL 46XY means that if he did have Rett, he has a form of somatic mosaicism: part of his body has the mutated gene while the other part of his body does not. His blood, the part of his body on which the gene was tested, could simply be part of the portion of his body with the unmutated MECP2 gene.

A Crazy Week Ahead

Tomorrow afternoon, Bertrand, Matthew and I are flying out to Atlanta, Georgia. We'll be spending Labor day weekend with friends and family there--especially Bertrand's Second Lieutenant Uncle Boojie. Then Matthew will be flying back to Salt Lake City on Monday while Bertrand, Nana and I will be road tripping up the east coast!

From Atlanta, Georgia our next stop will be Chapel Hill, North Carolina to see Bertrand's medical team for 3 days of follow-up appointments at Duke and UNC. Then, Friday we'll be driving up to Annapolis, Maryland for Bertrand's first sailing trip! Aboard the "Sheets" (Nana and Papa's boat) we'll be meeting up with Papa Tom and Uncle Dan and Aunt Jess. What a fantastic way to end the summer!

From there on Sunday September 13th, I'll be flying back to Salt Lake City sans Bertrand (to finish painting the house) while Bertrand enjoys a week with his Nana and Papa and Great Grandma H in Arizona. Bertrand will be driving up with them on September 18th to be greeted by his freshly painted, brand new, big boy, bedroom! Yay!

September will fly!