Tuesday, February 01, 2011


I wasn't dreaming things, we were on the right path. He has an incomplete form of lissencephaly called pachygyria.

This definition is taken from the government's rare disease website:

Pachygyria is a rare developmental disorder which results from abnormal migration of neurons in the developing brain and nervous system. In pachygyria, the gyri are relatively few and are unusually broad and flat. The condition does not affect the entire brain, and is also known as ‘incomplete lissencephaly'.Symptoms are variable, but may include seizures, developmental delay, growth failure, small head size, feeding issues and poor muscle control. Most cases are isolated, although autosomal dominant and recessive forms have been described. Treatment is symptomatic and supportive.

It's not a good diagnosis. With a feeding tube there is no threat to his life. His life expectancy is normal as long as seizures are managed. His muscle spasticity will increase and there is usually not much development. Our neurologist did say his function is better than one would expect from looking at the picture (MRI).

We are scheduled for a 24 hour EEG. One symptom of these disorders is infantile spasms which is severe seizures. She showed us a video of it and we were surprised, it was what we see Calvin do all the time. The EEG will give an answer to whether or not he really is having them.

In my research I had found that the world expert on lissencephaly and pachygyria is Dr. Dobyns who works at the University of Chicago. I asked Dr. Chadehumbe (our neurologist here in GR) if she'd heard of him. She knew him and agreed that it would be good to refer Calvin to see him. Since it's so rare, it's hard for someone to give us more information about where Calvin falls on the level of severity of the disorder. Dr. Dobyns sees only kids like Calvin so obviouisly he'd have a feel for where Calvin is at. We are hoping that he will accept the referral. 

The future is overwhelming. Please pray for us.


Kate said...

Wow. I'm sure you feel strangely overwhelmed simply by being able to really know all of this...we love you guys and will be praying for you as you process all of it.

Anonymous said...

Even though you now have a "diagnosis" for Calvin, I am sure it does not make the situation any easier for you.Praying for strength for you,Daryl and all the family.It is comforting to know there is not only an earthly Dr. but also a Great Physican who cares for all your needs.God Bless.

Christy said...

Oh my goodness. So overwhelming. I'm praying.

Anonymous said...

Dear Kara,
oh my, so much for you to process right now...I feel a kinship with you too:)You can count us in with the many others upholding your family in prayer. I just read your post "Are you my mother". Thank you so much for sharing this with us. I too long for these good things to come about in my children's lives. It was a good reminder to me - when right now it seems that the cost is too great.
We are in Good Hands,
Kendra Funk (Rachel's mom)
ps - I love LOVE the video of Calvin laughing. These kids of ours are so beautiful..:)

Brea said...

Praying for you.