October 31, 2010

A moment of happiness

October has been a long month.

I (B's daddy) have been traveling a lot (since the middle of September). At the same time, Bertrand has been recovering from his broken leg and readjusting fully to the ketogenic diet.

It's been rough for him and for his mom.

She's been a saint and a superhero. That's all I can say.

Cristina and I were worried that October was going to be the first month without a single smile from Bertrand.

But, then, on Halloween, we heard giggles coming from his room.

We ran in and caught this:

As parents, we have never needed this more.

October 21, 2010

A Message from Cole's Mom: Paws To Help

We just wanted to remind everyone that our walk, "Paws To Help" is this Saturday at Liberty Park in Salt Lake City at 11:00 am. We have chosen to make this walk free, with no registration fee. It will be short, with a balloon release at the end. We will also have people from the Epilepsy Association of Utah there to answer any questions you might have. Come and support Cole and raise awareness for Dravet Syndrome and epilepsy. We are not sure that he can even come because the weather is predicting to be cold and he can not regulate his body temperature. Bring your sunglasses, and if you want, your dogs! If you want to donate, you can click on the link on our sidebar. It will take you to Cole's
fundraising page. This money will go directly to 4 Paws For Ability and is tax deductible. We are raising this money in their behalf to support their mission to provide service dogs to those with disabilities.

The other $2,000 that we are hoping to raise separately, is to go towards travel costs for the two weeks we will need to spend in Ohio for training. We are about half-way to our goal and want to thank all of you that have donated so far! It means so much to us, and to Cole. To learn more about why we want a service dog for Cole, you can go

October 1, 2010

Falling down

Bertrand took a tumble out of his high-chair and landed in the ER.

This lead to the world's strangest conversation:

Physician: "The CAT scan shows significantly enlarged ventricles, indicating brain damage."

Us: "OK, but what about his bones? Are there any breaks?"

Physician: "Um, his bones are fine."

In 30 years of emergency medicine, the ER doc had never seen a calmer response to the announcement of brain damage.

In more detail, the fall didn't cause the enlarged ventricles.

Actually, beyond bumps and bruises and panicked parents, the fall didn't do anything.

His ventricles (empty space in the brain) began enlarging as his white matter started disappearing about two years ago.

Unfortunately, they appear to be significantly enlarged from his last MRI in December.

Hopefully, with this new data point, we can start to measure life expectancy.

There are a few wildcards in the mix--like the stem cells and the steroids and the ACTH--but it appears we're not winning the war.

We'd been getting optimistic as of late.

We recently turned the tide on his liver damage. The ACTH stopped his seizures for almost two months, giving us a brief and unforgettable snapshot of a happy, loving baby boy.

But, it seems he's still losing white matter.

Clinically, this is consistent with our current hypothesis: male Rett syndrome from somatic mosaicism caused by a de novo mutation. (Somatic mosaicism means part of him is normal, part of him is a mutant; de novo means neither Cristina nor I are a carrier--it's a mutation unique to him.)

His next MRI will be more conclusive about the effects of our efforts, but today was a sober reminder that the clock is ticking.