August 30, 2009

Carmen B. Pingree Center for Children with Autism

The Carmen B. Pingree Center is less than a mile away from our house!

A few days ago at dinner with my father and Dr. Janet Lainhart I learned about a resource for autistic children in the state of Utah: the Carmen B. Pingree Center for Children with Autism. Janet is the Medical Director for the University of Utah Autism Clinic and works closely with the Pingree Center. She believes that Bertrand would benefit from their preschool. Fortunately, the preschool program is funded publicly through the State Division of Mental Health.

Unfortunately, the The Elementary/Secondary Program is a private pay organization. Families are assessed fees based on IRS tax information. The fees are augmented by an endowment fund where interest from the endowment is used as a tuition stipend based on the families ability to pay. Tuition for one year is $28,500. That's a bridge we'll cross when we get to it.

I am still wrapping my head around the possibility that Bertrand may be alive to go to a preschool! And it is one with a 2:1 student to teacher ratio with the resources to cope with him if he stays nonverbal and nonambulatory! This is a very good thing.

There is a waiting list for the school. The entire school has only 70 spots (50 of which are for the preschool). Bertrand is getting on the list first thing tomorrow!

August 29, 2009

Autism Comes Home

It would be accurate, if highly misleading, to say that I grew up with autism. I spent my childhood working and playing in my father's lab--my father being a neuropathologist who researches the condition. I also met a great many autistic individuals through both my father and my time at Georgia Tech.

This all said, while I realized that Bertrand exhibits autistic behavior, I did not consider him autistic. A week with my dad changed that and stripped away my last hope for normalcy. Even if no genetic condition (such as Rett syndrome) is identified, Bertrand is still autistic and pretty severely at that.

August 27, 2009

Cortical Modularity and Autism

Presented by Manuel F. Casanova, M.D., Gottfried and Gisela Kolb Endowed Chair in Psychiatry and Associate Chair for Research, University of Louisville

The cortex is a complex system made up of hierarchically arranged modules called minicolumns. Connectivity between these modules provide for the emergence of higher cognitive properties. Autopsy and neuroimaging data suggest an abnormality of these modular arrangements in autism. More specifically, the inhibitory surround of minicolumns appears impaired thus resulting in a hyperexcitable cortex and a bias in the signal to noise ratio accrued to information processing. Therapeutic interventions aimed at increasing the inhibitory tone of minicolumns by using Transcranial Magnetic Stimulation (TMS) have yielded promising results.

Date: Friday, August 28, 2009
Time: 3 p.m. - 4 p.m.
Contact: Amy Davis
Location: 3760 Warnock Engineering Building

The Joys of Home Ownership

In the midst of trying not to tear all my hair out because of Bertrand's situation, I've been dealing with the "joys" of home ownership. Back in July we discovered a leak in our dining room. We thought that caulking around an upstairs window fixed it. We were wrong. It turns out that water was streaming in past the rotted out Tudor boards on our home's south side. On top of having to replace the completely rotted exterior boards, we may have to deal with repairing damaged structural timbers. Fun. :-P

By the way, the results still aren't back for Bertrand's MECP2 (Rett Syndrome) test, and his 24-hour EEG (the one ordered by the NIH and the chief of the UofU medical genetics program) is being held up for lack of approval by neurology. Grrr! But speaking of neurology, my father will be giving a talk on autism at the University of Utah's Warnok engineering building at 3pm tomorrow! It's a fantastic talk on his theory of the circuitry of autism. Bertrand approves. ;)

August 20, 2009

A bad time to get bad news

There's never a good time to get bad news about Bertrand. But, there are worse times than others.

I got Cristina's text message about the microcephaly right before I had to give my talk today at the faculty retreat. It knocked me right out of my "pre-talk zone," but I held it together.

Anyway, when I got home, I had a "talk" with Bertrand. He explained to me that he's not microcephalic. He claims he's just "megasomatic."

Microcephaly. It's Official.

At today's neurology appointment Bertrand's head measured (and remeasured) in the 2nd percentile while his height and weight are still in the 50th percentile. His head hasn't shrunken. It just hasn't grown in several months. This means he has microcephaly--a small head. Below is a very helpful explanation of microcephaly from an email exchange with Bertrand's genetic counselor, Rena.

"In medical terms, we use 'microcephaly' to describe a head that is below the 3rd percentile. However, "relative microcephaly" would mean smaller relative to the other measures. Because B's height and weight are around 50th %, we would say he has relative microcephaly. Usually, though, in conditions such as chromosomal breakage conditions, we are looking for true microcephaly. [...]

And, especially in the case of "relative microcephaly" we always look at the family trends. [...] What is often most important, though, is a child's trend over time. For instance, are all measures normal at birth and then does ONLY the head size become smaller? (This, of course, doesn't mean that the head is actually shrinking, just that it isn't growing along with the rest of the body). This is termed 'acquired microcephaly' which can be a type of 'relative microcephaly'. In fact, acquired microcephaly is what we generally see in individuals with a MeCP2 mutation. [...]

This would mean he has relative microcephaly, and, if the OFC dips below 3rd %, acquired microcephaly."

August 14, 2009

Moving Forward: Blood Work & 24-hour EEG

We are regaining momentum on the search for Bertrand's condition.

Yesterday, Bertrand's blood was drawn for hepatic (liver) function tests and the MeCP2 gene sequencing for Rett syndrome. Bertrand's liver function came back as still elevated: albumin 4.0, ALT 324 and AST 188.

The results for the MeCP2 will be back in about 21 days. If that comes back normal, we'll test the CDKL5 gene; one responsible for atypical Rett syndrome. Then, if that is normal, we will order testing for the final atypical Rett gene.

Frustratingly enough, in digging through my email for this post, I found an email from Dr. Vandana Shashi of Duke University to Dr. Longo from April 2009 recommending, "MECP2 sequencing if microarray is normal." Argh. She recommended testing for it almost 5 months ago and I missed it. :( I am going to walk back through her additional recommendations to make sure I haven't missed anything else.

Bertrand's 24-hour EEG should be scheduled for or by the middle of next week when Dr. Longo is back in town. This will shed a lot more light on what his brain activity looks like and what medications we should consider.

August 11, 2009

NIH tests lost

The tests and labs the NIH ran on Bertrand have been lost. It's not clear how or why or when this happened, but at any rate, they are lost. We're working locally to see if we can get the labs re-run.

August 4, 2009

Therapy is tough

I had to do Bertrand's therapy session today with Linda from the Utah School for the Deaf and Blind.

Wow, it's really hard coaxing Bertrand to do what he's supposed to do during therapy sessions.

At any one moment, Bertrand wants to do exactly one thing, and if you make him deviate from his one thing, he gets cranky.

I have even more respect for what Cristina goes through on a daily basis.

August 2, 2009

Bertrand Walks and Return of the Wang

I'm back from my long trip to Oregon. I came home to find a happier, less-medicated baby learning to take a few steps in a walker!

Look at that grin!

All smiles!

A little scoot!

Wang is also back from is extended vacation in Kentucky! (Caged for his own protection.)

At the moment, Bertrand has about as much choice in where he goes as a jellyfish. But, every journey in life begins with the first step, and Bertrand has finally taken his.