May 30, 2010

Question: So how *does* Cristina get so much done?

Answer: Multitasking.

Feeding, exercising and emailing at the same time.

And, yes, that is her gardening hat.


It's been another grueling week on ACTH.

We'll have more to report when we can catch our breath.

May 25, 2010

State of the Pookie Report: May 2010

I've been feeling ground to a pulp (this may have to do with being completely black and blue from a few days ago when my knee gave out at the top of a flight of concrete steps causing me to tumble all the way down them--ouch), but I owe you all a long overdue State of the Pookie Report. Without further ado, here it is.

May 17th
Bertrand's EEG was "much improved". As you can see from the photo below, there were still plenty of (smaller) spikes but most of the underlying wave pattern disappeared. This is great news! However, most kids on ACTH have normalized EEGs after two weeks of treatment, so Bertrand's neurologist believes that a normal EEG may not be in Bertrand's future. We'll see.

May 24th
Bertrand's ACTH wean began. He went from two shots a day of 45 units (90 units total), to just one 45 unit shot of the ACTHar gel in the mornings. He literally got back in the saddle, as his 'roid rage was sufficiently lowered to attend hippotherapy for the first time since starting ACTH. It was his best session ever--with him complaining whenever the horse would stop. :)

May 25th
Bertrand's ophthalmology appointment was attended by his representative/therapist from Utah Schools for the Deaf and Blind. Bertrand has cortical visual impairment (CVI) and is legally blind. This was documented for the school district so it can be addressed at his IEP meeting on July 7th. Later that day, Bertrand picked up his totally rad AFOs, and he now needs larger shoes to fit over them. Time for new shoe shopping! Yay! (I LOVE shopping for baby shoes. They're so darn cute!)

A portrait of Bertrand taken by Jessie Lynne.

May 26th
Bertrand had a great occupational therapy session. He has become much more willing to bear weight on his arms and let things touch his hands. We're finally being able to fully enjoy many of his touch-and-feel books. This is a huge, new plus. Unfortunately, we're seeing myoclonus and tonic seizures in his sleep. Hopefully, these will go away with continued ACTH, as we have not seen a seizure during his waking hours since... MAY 5TH! In equally awesome news, Bertrand's 'roid rage is toning down and he is finally starting to eat less. Whew!

June 2nd
Even though his immune system will still be technically suppressed, Bertrand will be re-starting his preschool. He will be attending Mondays AND Wednesdays from 8-11 to make up for the month he missed in May. This will be a good test for his tolerance of increased school time and of the changes/progress he has made since ACTH treatment.

Another portrait of Bertrand taken by Jessie Lynne.

June 5th
Matthew will leave on a marathon of conferences and family activities through the end of June. In an effort to save my sanity, Bertrand's Abuelito (my dad) and his Auntie Aury (my sister) are coming to visit and arriving the day Matthew leaves. Abuelito will be staying for a week but Auntie A will be staying through July 5th! I am so excited! While she's here, Aury will be attending the University of Utah's School of Computing Entertainment Arts and Engineering Summer Program! I wish I could attend the program--it sounds awesome! :)

June 7th
Bertrand's follow-up EEG and neurology appointment should be interesting. At this point he'll be two weeks into the ACTH wean. Bertrand's Abuelito, who is a neurologist, will be attending the appointments with us. (Hey, Daddy? FYI, you're attending the EEG and neurology appointment with us. Love you! Thanks!) At the neurology follow-up we'll be discussing the ACTH wean, the prednisone/prednisilone titer and the possible addition of Zonegran.

May 23, 2010

Family Portraits: Part 1

Last Thursday we went to Murray Park to have family portraits taken by the talented Jessie Lynne. Jessie was such a good sport and managed to get beautiful shots in spite of ACTH-powered Bertrand being only interested in screaming and eating. Here are first three photos from the shoot.

May 22, 2010

An App For That

Since the precise cause of Bertrand's problems is still unknown, we have to take a scientific view on Bertrand's treatment.

To put it a little too dispassionately, Bertrand, to us, is a laboratory experiment.

We track all of his activities, all of his inputs and all of his outputs.

And, we look for patterns and correlations. Mostly, we look at the effects of things like changes in diet, medication levels and sleeping patterns to see if they have an effect on his seizure levels. It's important to log everything so that we don't succumb to personal impressions.

Until very recently, we did all of this with pencil and paper logs and an occasional mass transcription into a spreadsheet.

This approach got to be tedious. We were always wondering where we'd last had the logbook. And typing up all that data was a real pain.

So, I created an iPhone/iPad/iPod Touch/web application for Bertrand's medical log. Now, whenever we're within reach of a cell phone, Bertrand's iPad or a computer, we have access to his medical log. The result has been a major quality of life improvement for us, and for Bertrand.

We now have all of his log data in an easily queried form, and we have it with us at all times.

Here's a screen shot of the app on the iPhone:

It's pretty simple. It's just a series of "events" by day. Each event has a time, a type and an amount associated with it. One feature I added during his ACTH treatment was a running calorie/fluid intake counter at the bottom of each day:

We discovered from this that Bertrand was drinking over 2 liters in fluids each day--twice his recommended level.

To speed data entry, when you click on the type of event, it gives you the option of any type of event that's happened within the last 3 days:

Since there's a small set of activities we track, we almost never have to do any typing on our iPhones, which makes it quick and easy to make log entries. By selecting an entry, we can change its time, and we can choose to duplicate it for right now, or delete it:

Finally, it looks great on the iPad, where we can see almost a day's worth of info at a time:

Last week, when I was in Washington, D.C., I found myself repeatedly checking the app on my phone to see how Bertrand was doing.

So, yeah, there's now an app for that.

[I wrote a post on my blog about how to create native-looking iPhone apps in HTML, CSS and JavaScript if anyone is interested in the technical details; the source code is available there as well.]

May 18, 2010

Hoping for Hannah

Hannah and Bertrand hanging out together at the NIH last year.

Hannah is Bertrand's friend from Texas with Gaucher's Disease type 2/3 (a lysosomal storage disorder). Hannah is currently in the pediatric intensive care unit (PICU), seizing from a bronchial virus, pneumonia and possibly other complications. Her temperature is coming down and she may be improving but her situation is still not completely clear.

I am devastated. I feel so impotent. All I can do from here is hope--and hope that hope is enough. Everything in me wants to fly down to Texas to help with Hannah's siblings and do anything I can for her parents so they can be there with her and not worry. If only Bertrand weren't on ACTH! :( I know crying doesn't help anything but that seems to be all I can do.

For close to 2 years, Hannah's mom Carrie has been my lifeline. When I felt most alone in my life, Carrie was the one who stood with me and understood what I was going through. Hannah is almost a daughter to me, I love her so much! She is just shy of 22 months old and has had to endure more difficulty than any child ever should. She is beautiful, joyful and wonderful. And what she's facing--it's just not fair.

Hannah, I love you. Get well.

May 17, 2010

How many does it take...?

How many hands, paws and wings does it take to redo the sprinklers on the South side of our house for my new raised garden beds? 4 hands (Matthew and me), 8 paws (Penny and Mr. Wang), 60,000 sets of wings (the bees), and 1 tyrant taskmaster (Bertrand "the bossman" Might). Though, if you ask Bertrand, he'll say he did it all himself. :)

The bees refused to give up the strawberry patch, so we let them keep it. Sigh. I guess that's going to be another year of more delicious strawberries than we can eat. Oh well. :)
The bee hive reigning over the strawberries.
Mr. Wang, assistant to the regional taskmaster.
Penny, the hardworking polo-german (pomeranian-miniature pincher).
Penny and Matthew redoing one of the sprinklers while Mama, Bertrand and Mr. Wang make sure they don't mess it up.
Penny and Matthew sharing a moment to commiserate over the three too many bossy managers on site.
Penny asking to get back to work. (In her opinion, this was the best day ever.)
Matthew and Penny installing yet another sprinkler. Four in total were installed.
Bertrand and Mama decided to harvest some carrots while everything was muddy.
The workers hosing off. (Or more accurately, Penny attacking the water.)

For once Bertrand didn't make it in a single shot! But, I managed to capture Matthew, Penny and Mr. Wang, all three of who have been a bit neglected (photographically and otherwise) since Bertrand came along. I wonder why that is? Oh yeah, Bertrand is way cuter! ;)

May 14, 2010

Sideswiped by an ice cream truck.

This morning, a sign of spring arrived: the ice cream truck. (The Dad's Ice Cream truck to be exact, a Salt Lake City institution.) I LOVED ice cream trucks as a kid! I got so excited, I turned to tell Bertrand. That's when I got "sideswiped" by the ice cream truck. First off, Bertrand can't even have ice cream because he is on the ketogenic diet--a high fat, low carb dietary regimen for intractable epilepsy. Secondly, even if he could have ice cream, he wouldn't because it is not between 98 and 103 degrees (the temperature range he demands because of his sensory issues), he can't hold the cone or feed himself (because he has almost no fine motor control and very little gross motor), he can't understand the concept of the ice cream truck (because he has almost no expressive or receptive language), and he can't even really see the truck (because he has cortical visual impairment).

Part of why this was hard is because Bertrand has been doing much better seizure-wise thanks to the ACTH injections. Bertrand has had no myoclonic, atonic or tonic seizures in 9 days. When I put my finger in his hand, his fingers don't twitch as much. The past 2-3 days he's been sleeping more, but he sleeps more every time his regimen has a big change. Bertrand's weight is down to a healthy 31.4 lbs., so the thickened water is working. He is still having absence seizures and clearly spikes based on the mild twitching, but we expect that we'll see some fairly big changes on his EEG this coming Monday.

I know Bertrand is working as hard as he can while dealing with a difficult ketogenic diet, high doses of meds, hormones/steroids, twice daily shots, scarred veins, invasive testing and more than any kid his age should be dealing with. He is my hero. And he deserves a break. I'd been hoping that if we could stop the seizures he'd be able to regain some of the skills he lost, if not gain new ones. Now it looks like I am finally and clearly seeing the effects of his brain damage. Regaining his lost skills will be an uphill slog. But we'll do it--just like we do everything else--a day at a time.

The second time the ice cream truck drove by this afternoon, Bertrand heard the music ("It's a small world") and smiled. Turns out, he likes ice cream trucks too, just in a different way from his Mama. He's an amazing boy, my son!

May 12, 2010


Last night, Matthew sent me this web comic saying, "this reminds me of you." In turn it reminded me of so many of you special needs moms out there. I had to share. I love you all and what you do everyday for your kids and others.

May 11, 2010

"The Boy Who Discovered His Lungs"

There once was a boy named Bertrand
With no fine motor or tears from his tear gland
Then along came steroids
And peace was destroyed
Tears and yells came hand in hand
Yes people, I am finally losing my mind. I want to believe (and so I will) that there are finally some positive changes coming from Bertrand's ACTH treatment. We haven't seen a myoclonic, tonic, or atonic seizure in 4 days--this tops his 3 day "seizure free" record on the ketogenic diet. And as for the seizures we don't count, his eye myoclonus and absence seizures seem greatly reduced. That said, apparently Tarzan is Bertrand's real father. This is the only explanation I can come up with for the unnatural sounds and volume coming out of my once soft-spoken little boy. Oh, and a wolverine is apparently Bertrand's real mother, but more on that some other day. :)

May 9, 2010

A Mothers' Day Video Message

Dear Mothers,

Before Bertrand, I always assumed that it was thanks to mothers that there were children. Now I know that it is really thanks to children that there are mothers. To me, that distinction is an important one. Motherhood is not about being the center of a child's world, but rather about having a child at the center of yours.

It is safe to say that Bertrand is at the center of more than just my world. As grandmothers, great-aunts and aunts, I know you share in the pain of Bertrand's continued suffering and the uncertainty of his situation. So, our mothers' day gift to you (and myself) this year is particularly meaningful: a $1000.00 donation to the Bertrand Might Fund for the University of Utah Rapid DNA Sequencing Center. We hope this gift is the first step in obtaining answers for mothers everywhere and, someday, cures for their children.

The University of Utah Rapid DNA Sequencing Center is the first of it's kind in the world. Imagine if Bertrand had been able to avoid the scarring of his veins from getting 4 pints of blood (the equivalent blood in 16 newborn babies) drawn over the past two years. Imagine if Bertrand could've avoided the over $50,000.00 in genetic tests he's had with just one $5,000 rapid DNA sequencing test. This is the opportunity the center providing to other children in Bertrand's situation, one of suspected genetic disease. And as for Bertrand? We hope that with additional contributions to his fund, he will be one of the first "test" cases for the Rapid DNA Sequencing Center when it opens in September 2010.

Combined with the testing of Matthew and myself, geneticists may be able to determine where Bertrand's genome differs from ours or how it fits within existing genetic disease frameworks. We may finally receive answers: answers that could help us plan for Bertrand's future as well as our own.

That I may be finally able to plan for the future of my precious child (and that he may even have a future!) would be a priceless gift--one we would all enjoy and one that Bertrand certainly deserves.

Happy mothers' day!

May 6, 2010

The Blood Pressure Saga Continues...

Bertrand on a walk with his great-aunt Shirley today!

Bertrand's pediatrician appointment was interesting yesterday. His blood pressure kept reading as very high in the office. To give you an idea, Bertrand's blood pressure was 152/82 and the high range for his age, height and weight is 105/65-75. Yeeeaaah.

This blood pressure was taken while he was sleeping, but having a lot of jerky movements, which can distort the reading. So we were given two days to get sleeping blood pressures for Bertrand before putting him on blood pressure medication and/or reducing the ACTH.

Guess what we got last night?

113/87! We were pretty excited by how low this was! This was taken on his ankle, and any leg blood pressure measurement is about 10 points higher than that from the inner elbow. Correcting for this would put the values at 103/77. Not bad, huh? :)

All in all, Bertrand is still very irritable and hungry, but his great-aunt Shirley and aunt Jess helped to distract him by going on walks... in the snow. Yes, it was snowing in May! (But fortunately it didn't accumulate.)

Jess and Shirley are driving across the country so Jess can start her nursing program at Johns Hopkins! We are all so proud of her! She unpacked her stethoscope just to take Bertrand's blood pressure. :) And, Shirley gave Bertrand multiple walks and single handedly finished curtains for our bedroom while B was napping! The energy of these two ladies is amazing! They need to drive through Utah more often. :)

May 4, 2010

ACTH Day Four

This is Bertrand's weary Mama reporting from the front lines.

Bertrand is doing better tonight! He had his first NORMAL BLOOD PRESSURE and PULSE! YAY! We thought he was going to have to go on blood pressure medication starting tomorrow, but he may have beat that. We increased his water and decreased his salt. Also, while he was a little monster today, I would say he didn't seem possessed, which is progress, right? :)

What else? His ketones are down to moderate. We saw tears again today--I always consider tears a good sign. :) And he's had only one or two seizures today, which isn't good but isn't bad. He's still acting alternately fussy and exhausted, but hey, his body is working hard. We'll see what his pediatrician says about all these things tomorrow.

Overall, I am not as frantically worried today as I was the past few days. (Mind you, still very worried, just not as much.) I think we'll be able to stay the course for the next 2 to 3 weeks. Also, looking at kids on ACTH with non-infantile spasms, the treatment can take weeks to see results, so that I was happy to hear that too. ACTH still has time to work on Bertrand.

Look at what I found today! Bertrand's baby announcement!
Look at that adorable baby chub!

May 3, 2010

Update: Irritable

It's a daddy post tonight because Bertrand defeated Cristina today.

ACTH-powered Bertrand is not something we were really prepared for.

He's almost constantly wimpering or crying. Holding him no longer comforts him completely, but it clearly helps him. He breaks into what would be tears if you try to put him down. The usual remedies like his favorite books and toys have little effect. I could only get him to sleep tonight by leaving his iPanda playing low-volume music.

I feel like I'm constantly searching for something else to comfort him, knowing that it's probably not going to make him happy either. I think Cristina feels the same way. Parents like to be able to comfort their child, but we can't ever seem to provide him much relief. This ineffectualness gnaws away at us.

He's hungry and thirsty all the time, but he refuses to drink water. (He's never liked it; I think it's a texture issue.)

So, to keep him from ballooning up, we've started mixing his Ketovolve with "thickened" water (which looks and feels like snot) and we're feeding him as frequently as he wants. It's about the only thing that's bringing him any peace right now.

The injections themselves are tough on all parties.

The needle is really tiny, but I guess that's because if we used a big needle, he'd have holes all over his legs. The problem is that we're injecting a cold gel, and it takes what feels like an eternity to inject it all. Meanwhile, we have to hold down an extremely pissed off Bertrand and keep him still.

I've already hit bone, bent the needle and had it knocked out twice.

But, I do think I'm getting better at it.

Tomorrow is ACTH Day 4.

Bertrand's seizure count today was pretty low compared to yesterday. Apparently, half of all ACTH patients go seizure free by day 4.

Our fingers our crossed.

May 2, 2010

24 hours of ACTH and a bit discouraged

The happiest day in my life. I didn't know then that it would lead to some of the saddest days in my life.

At 3:30PM yesterday, Bertrand began a course of ACTH gel injections. He has received three injections so far. He has had lot of seizures today--more than all of last week's seizures combined. It is a bit discouraging. We know that because he is still producing large ketones and his glucose still reads as low (consistent with a 4:1 ketogenic diet), perhaps we are not seeing the full effect of the 90 units of daily ACTHar gel. I can only hope that over the next few weeks (preferably days) we'll see the improvements that ACTH is famous for and not so much of the side effects that it is infamous for. Fingers crossed.