Bertrand had his evaluation at the Carmen B. Pingree Center for Children with Autism today. Dr. Peterson, their psychiatrist, confirmed that Bertrand has some autistic behavior. This led to an interesting discussion about the role CBP could play in Bertrand's development. Bertrand is not a typical toddler or even typical developmentally delayed toddler. In fact, Bertrand has much more in common with a newborn. He needs to attain more basic skills such as trunk control and fine motor development before the established CBP pre-k program could fully benefit Bertrand. "Our staff would feel too guilty to take your money." (You don't hear that often in this day and age!) But, while we were receiving this news from Dr. Peterson, Bertrand was busy working his magic on the staff of CBP. His unruly mop of curls, piercing gaze, cherub cheeks, and love of reading proved too much for them to resist. While their traditional ABA program wasn't a fit for Bertrand, the staff could see a lot of potential in him and felt that if they could work with Bertrand's current physical, occupational and speech therapists, a difference for Bertrand could be made. They put their heads together to come up with a radical departure from their current program, custom tailored to Bertrand. His will be the very first one day per week program and the focus will be on communication, sensory integration and, of course, socialization. At the end of each semester, Bertrand's goals and progress will be evaluated to see how his program needs to be adjusted.
Today was a triumphant day. :)
Thursday, January 7, 2010
Wednesday, January 6, 2010
Quickie Update
First of all, yes, we are alive. The past week has been extremely challenging for our family, and in my typical fashion, rather than talk (or blog) about it, I was buckling down and trying to problem solve. Well, the problems are not solved. Gasp! I am not perfect! ;) But, I feel we have recovered significantly--at least I have a moment to sit at my computer. Here is the rundown:
Thursday 12/31
Bertrand had his first tonic seizure. Mama desperately hopes this is a one time occurance due to the holiday excitement.
Friday 01/01
Bertrand has two more tonic seizures. After some panicked email correspondence, his keppra is near doubled to 375ml.
Saturday 01/02
Bertrand is hyper, jittery, nasty, and has increased myoclonus. No tonic or atonic seizures though. He begins to nap only ONE hour all day and loses ability (maybe refuses?) to sit or spin. He earns the nickname "demon baby".
Sunday 01/03
The demon baby rampage continues. Bertrand is super jittery, vicious, and has even FURTHER increased myoclonic seizures, but no tonic or atonic seizures. He is still missing the ability to sit, play with toys and smile.
Monday 01/04
Demon baby is given a dose of B6 which, according to Elizabeth (my keto guru from N'awlins), helps with "keppra rage". Bertrand takes TWO one hour naps and has one less myoclonic seizure from the day before, sits aided and has a brief 10 second spin session!
Tuesday 01/05
Phew! With lots of B6, sweet Bertrand makes a come back! Only 3 myoclonic seizures! He smiles again, spins freely, and can sit better. His therapist notes that Bertrand's aim is like a drunk's. He takes 5 hours worth of naps. Mama is MUCH relieved.
Wednesday 01/06
Bertrand is sweet and flirtatious at therapy. His actions are still drunk-like. He is back to sitting and playing with toys. He is back to taking naps. Myoclonus are down to 2. Mama is excited to be getting a trial of the KetoVolve formula in the mail soon!
Thursday 01/07
Bertrand will have an intensive 4-hour evaluation at the Carmen B. Pingree Center for Autism. This will determine his eligibility for their 3 hour, 3 times a week autism clinic. Mama would attend the pre-k with him! If there were ever a grade I would like to repeat--pre-k is it. ;)
Friday 01/08
Bertrand has an appointment with rehabilitation doctors Judy Gooch and Allison Oki. They are bound to be impressed by his 2 hours per day in the stander, and his correspondingly improved hips and feet!
Next Week
Bertrand has a dentist appointment, visual therapy, physical therapy, occupational therapy and musik garten class.
Thursday 12/31
Bertrand had his first tonic seizure. Mama desperately hopes this is a one time occurance due to the holiday excitement.
Friday 01/01
Bertrand has two more tonic seizures. After some panicked email correspondence, his keppra is near doubled to 375ml.
Saturday 01/02
Bertrand is hyper, jittery, nasty, and has increased myoclonus. No tonic or atonic seizures though. He begins to nap only ONE hour all day and loses ability (maybe refuses?) to sit or spin. He earns the nickname "demon baby".
Sunday 01/03
The demon baby rampage continues. Bertrand is super jittery, vicious, and has even FURTHER increased myoclonic seizures, but no tonic or atonic seizures. He is still missing the ability to sit, play with toys and smile.
Monday 01/04
Demon baby is given a dose of B6 which, according to Elizabeth (my keto guru from N'awlins), helps with "keppra rage". Bertrand takes TWO one hour naps and has one less myoclonic seizure from the day before, sits aided and has a brief 10 second spin session!
Tuesday 01/05
Phew! With lots of B6, sweet Bertrand makes a come back! Only 3 myoclonic seizures! He smiles again, spins freely, and can sit better. His therapist notes that Bertrand's aim is like a drunk's. He takes 5 hours worth of naps. Mama is MUCH relieved.
Wednesday 01/06
Bertrand is sweet and flirtatious at therapy. His actions are still drunk-like. He is back to sitting and playing with toys. He is back to taking naps. Myoclonus are down to 2. Mama is excited to be getting a trial of the KetoVolve formula in the mail soon!
Thursday 01/07
Bertrand will have an intensive 4-hour evaluation at the Carmen B. Pingree Center for Autism. This will determine his eligibility for their 3 hour, 3 times a week autism clinic. Mama would attend the pre-k with him! If there were ever a grade I would like to repeat--pre-k is it. ;)
Friday 01/08
Bertrand has an appointment with rehabilitation doctors Judy Gooch and Allison Oki. They are bound to be impressed by his 2 hours per day in the stander, and his correspondingly improved hips and feet!
Next Week
Bertrand has a dentist appointment, visual therapy, physical therapy, occupational therapy and musik garten class.
Saturday, January 2, 2010
A talk with our favorite neurologist
Bertrand is not worried about his MRI. He has more important things to do.Today I had a talk about Bertrand's most recent MRI with our favorite neurologist, my dad. I think it broke his heart to tell me that he agreed with the radiologist's opinion. Compared to Bertrand's first MRI, he saw white matter loss and an enlargement of the ventricles (in likely compensation). In his opinion this was consistent with an inborn error of cellular metabolism--a remote ischemic insult seems unlikely.
This is by no means new news. We learned about Bertrand's brain damage almost 8 months ago and we've known for over a year that Bertrand's condition has some kind of genetic basis. I just wish that after all poor little B has been through (with the scars on his arms, hands and feet to show for all the blood draws) we had a lead!
If we could only put a name to his condition, then maybe we could find a corresponding enzyme treatment (which has done wonders for children like Bertrand's friend Hannah with Gaucher's disease). If we had a name, then maybe we could do more.
Now, all we can do is keep doing what we're doing--loving and doing the best we can for B--and leave on the blinders which allow us to live day by day. If I kept the prognosis for individuals with errors of cellular metabolism at the forefront of my mind, I would never get out of bed. I would never be able to be the mother Bertrand needs me to be. So we'll keep living each day of 2010 to the fullest, and hope you all do the same.
Friday, January 1, 2010
Tonic Seizures: Next Step
Bertrand's neurologist has been very supportive and quick to respond in regards to Bertrand's tonic seizures. Given that today is a holiday, she is not at work, and we are seeing her later this month on January 21st, her concern is even more meaningful to us.
Because he is on the 250mg sugar free keppra tablets and tablets are harder to titrate, we have to go up by 125mg each dose. That would be 375mg twice a day which is around 60mg/kg/day. That's a fairly high dose of keppra which will hopefully help, but we'll be in contact with Bertrand's neurologist should any problems arise, such as sleepiness or other toxicity symptoms.
(Just in case, I will be heading over to Jolley's Compounding Pharmacy as soon as it opens, to get a special sugar free version of liquid keppra made for Bertrand. This would make his Keppra dose easier to titrate.)
Bertrand's myoclonic jerks and atonic episodes are still down around 0 to 4 each, everyday, which I feel is still an improvement from the 100 some each daily he'd have back in October. I don't have to worry about him falling as much and he can play with hard toys now, instead of only soft ones in case of a head butt.
His myoclonics, atonics and now the tonic seizures only happen in the early morning (before, during, or just after breakfast) or early evening (just before bed when he is tired). For most of the day, Bertrand is lovely. :)
Given this morning and evening pattern, however, we're back to discussing an evening ratio shift with his keto team, to see if that will alleviate some of the early morning seizures.
Because he is on the 250mg sugar free keppra tablets and tablets are harder to titrate, we have to go up by 125mg each dose. That would be 375mg twice a day which is around 60mg/kg/day. That's a fairly high dose of keppra which will hopefully help, but we'll be in contact with Bertrand's neurologist should any problems arise, such as sleepiness or other toxicity symptoms.
(Just in case, I will be heading over to Jolley's Compounding Pharmacy as soon as it opens, to get a special sugar free version of liquid keppra made for Bertrand. This would make his Keppra dose easier to titrate.)
Bertrand's myoclonic jerks and atonic episodes are still down around 0 to 4 each, everyday, which I feel is still an improvement from the 100 some each daily he'd have back in October. I don't have to worry about him falling as much and he can play with hard toys now, instead of only soft ones in case of a head butt.
His myoclonics, atonics and now the tonic seizures only happen in the early morning (before, during, or just after breakfast) or early evening (just before bed when he is tired). For most of the day, Bertrand is lovely. :)
Given this morning and evening pattern, however, we're back to discussing an evening ratio shift with his keto team, to see if that will alleviate some of the early morning seizures.
Tonic Seizures
We were really hoping that 2010 would be different. We should've been more specific--better than 2009, not worse. After all, wouldn't it be hard to get any worse than 2009 for us? We were wrong. Here is the email I sent to Bertrand's doctors this morning.
Yesterday afternoon, Bertrand had a tonic seizure. He had another one this morning. They are about 5 seconds long. His eyes cross slightly, both his arms are stuck out in a rigid pseudo hug (wrists and hands turned in). After them, he is inconsolably upset.
Happy new year,
Cristina
Thursday, December 31, 2009
MRI and MR Spec Results
MRI: BILATERAL ABNORMAL SIGNAL INTENSITY THROUGHOUT THE PERIATRIAL WHITE MATTER. IMAGING FINDINGS ARE SYMMETRIC IN APPEARANCE. FINDINGS ARE SUGGESTIVE OF A TOXIC/METABOLIC WHITE MATTER INJURY PROCESS. ADDITIONAL CONSIDERATIONS WOULD INCLUDE REMOTE ISCHEMIC INSULT. IMAGING FINDINGS ARE NEWLY CONSPICUOUS COMPARED TO THE PREVIOUS STUDY.
MR Spec: NONSPECIFIC SPECTROSCOPY WITH ELEVATION OF THE CHOLINE PEAK SUGGESTIVE OF CELL MEMBRANE TURNOVER. THERE IS QUESTIONABLE PRESENCE OF A LACTATE PEAK BURIED WITHIN THE BASELINE NOISE.
Lab Results: AFP: 102.5 (normal range: 0-15); ALT: 312 (normal range: 5-45); AST: 263 (normal range: 20-60)
Doctor's Take: "There are no changes since the evaluation done at Duke University [April 2009, age 16 months], but there are changes compared to the initial MRI done at PCMC [August 2008, age 8 months]." And, "This pattern is totally nonspecific and does not guide us further. I looked for abnormal peaks on the MR spec and there are none."
Our Take: Breaking down the medical jargon, what does "remote ischemic insult" mean? Remote means it happened long time ago. Ischemic means due to circulation (or lack thereof) and insult means brain injury (stroke and embolism are in this family). And my best guess for "periatrial white matter" is the that they meant "periventricular white matter" or the part of the brain with myelinated axons surrounding the ventricles (which contain the CSF) in the brain. Someone please correct me if I am wrong!
(Or, as Prof. Might likes to put it: grey matter is the CPU and white matter is the networking cable. Bertrand appears to have a networking problem.)
Since there has been no change in the MRI since April 2009, even though these findings are suggestive of a metabolic injury process, this also opens up the possibility of ischemic insult (for which Bertrand's cord blood could be used as a therapy) as a possible cause of Bertrand's issues. Unfortunately, this means the field has been widened instead of narrowed, and time may be the only determinant.
MR Spec: NONSPECIFIC SPECTROSCOPY WITH ELEVATION OF THE CHOLINE PEAK SUGGESTIVE OF CELL MEMBRANE TURNOVER. THERE IS QUESTIONABLE PRESENCE OF A LACTATE PEAK BURIED WITHIN THE BASELINE NOISE.
Lab Results: AFP: 102.5 (normal range: 0-15); ALT: 312 (normal range: 5-45); AST: 263 (normal range: 20-60)
Doctor's Take: "There are no changes since the evaluation done at Duke University [April 2009, age 16 months], but there are changes compared to the initial MRI done at PCMC [August 2008, age 8 months]." And, "This pattern is totally nonspecific and does not guide us further. I looked for abnormal peaks on the MR spec and there are none."
Our Take: Breaking down the medical jargon, what does "remote ischemic insult" mean? Remote means it happened long time ago. Ischemic means due to circulation (or lack thereof) and insult means brain injury (stroke and embolism are in this family). And my best guess for "periatrial white matter" is the that they meant "periventricular white matter" or the part of the brain with myelinated axons surrounding the ventricles (which contain the CSF) in the brain. Someone please correct me if I am wrong!
(Or, as Prof. Might likes to put it: grey matter is the CPU and white matter is the networking cable. Bertrand appears to have a networking problem.)
Since there has been no change in the MRI since April 2009, even though these findings are suggestive of a metabolic injury process, this also opens up the possibility of ischemic insult (for which Bertrand's cord blood could be used as a therapy) as a possible cause of Bertrand's issues. Unfortunately, this means the field has been widened instead of narrowed, and time may be the only determinant.
Tuesday, December 29, 2009
Holiday Photos
We had a fantastic time hosting the Might family for the holidays at our house this year! We can't wait until we get together next Thanksgiving! Below are some belated photos. More images can be found HERE.
While the obligatory Bertrand shot is at the very bottom, today my baby #2 (the house) leads the line up. It has been over a year of hard work but the house is starting to come together. She barely looks her age! We'll celebrate her centennial birthday with a party in 3 years. By then, I hope my To-Do list with the old gal will be shorter! :)
While the obligatory Bertrand shot is at the very bottom, today my baby #2 (the house) leads the line up. It has been over a year of hard work but the house is starting to come together. She barely looks her age! We'll celebrate her centennial birthday with a party in 3 years. By then, I hope my To-Do list with the old gal will be shorter! :)
Monday, December 28, 2009
Limbo
I was desperately hoping to get at least the results for Bertrand's MRI and MR Spec today, but my phone messages have gone unanswered. I will try again, in person, tomorrow when I take Bertrand in for his blood work. I was supposed to take Bertrand in today, but he took an almost 4 hour nap after his lunch, which made it impossible. In a way I was glad he got one more day of rest, since his hands, feet and arms are all still bruised from the seven failed blood draws last week. :'(
I hope we get some results back this week--good news--to start the new year off with! Please wish us luck tomorrow.
I hope we get some results back this week--good news--to start the new year off with! Please wish us luck tomorrow.
Friday, December 25, 2009
Thursday, December 24, 2009
End of Year Medical Marathon
Tuesday and Wednesday of this week became an end of year medical marathon for Bertrand. For a variety of reasons, not the least of which because our insurance deductible is met through December 31st, several of Bertrand's procedures were shoehorned into last minute holiday cancellations. Things went about as smoothly as one could hope for, and the preliminary results are very good!
Sleep Study
Results in 2-3 weeks.
EEG
Results in 1-2 weeks.
MRI & MR Spec
Results next week.
VER & ERG
Results same day: normal! Rules out Batten's disease (CLN3) and the other CLNs.
Donnell Creel, Ph.D, was the doctor who administered Bertrand's VER and ERG, and all I can say is that both Matthew and I are in love with Dr. Creel! Having a Ph.D rather than an M.D. was refreshing. Dr. C has a great sense of humor and he even gave us a mini-tutorial on electrophysiology! It was awesome! I wish more doctors would encourage such learning in their patients and patient's parents.
Labs
Unfortunately, in spite of being stuck SEVEN times, Bertrand's blood draws were unsuccessful. We will have to go next week to deliver a urine sample and draw blood samples for Dr. Longo.
Sleep Study
Results in 2-3 weeks.
EEG
Results in 1-2 weeks.
MRI & MR Spec
Results next week.
VER & ERG
Results same day: normal! Rules out Batten's disease (CLN3) and the other CLNs.
Donnell Creel, Ph.D, was the doctor who administered Bertrand's VER and ERG, and all I can say is that both Matthew and I are in love with Dr. Creel! Having a Ph.D rather than an M.D. was refreshing. Dr. C has a great sense of humor and he even gave us a mini-tutorial on electrophysiology! It was awesome! I wish more doctors would encourage such learning in their patients and patient's parents.
Labs
Unfortunately, in spite of being stuck SEVEN times, Bertrand's blood draws were unsuccessful. We will have to go next week to deliver a urine sample and draw blood samples for Dr. Longo.
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