Baker's journey started when he was born 5 weeks early on September 24th, 2007. He weighed 5 lb 3 oz. He stayed in the hospital for 2 weeks because of feeding and body temperature issues.
Although Baker started out very fussy and difficult to console, we didn’t really become too concerned about him until he was a few months old and not meeting his developmental milestones. The first thing we noticed was his delay with smiling and eye contact. As time went on he started doing both (and now he is wonderful at both) but we continue to notice that he struggles with many things - he does not put weight on his legs or arms, is unable to sit, his head is wobbly and he is unable to speak. He has a hard time connecting with things when he reaches for them but he has improved with connecting with his left hand although he rarely tries with his right. He of course also has the traditional kinky hair and not much of it.
His joints are extremely hypermobile and Baker wears glasses to help correct his esotropia (inward eye rotation).
When he was 3 ½ months old he had surgery on 2 inguinal hernias and after the he started to kick his legs like crazy as if to say, hey, finally this doesn't hurt.
When he was 7 months old he had 5 episodes in one day of what the Dr's think were Infantile Spasms, which is a type of seizure. He has not had any more seizures since but he is of course at a risk of having more.
When he was 9 months old he had an MRI and it showed delayed myelination of the white brain matter. Meanwhile we were meeting lots of different Dr’s and they are doing many tests to try and figure out what exactly is going on with him.
All his life he has struggled with feedings (lack of interest and very difficult to feed) but it wasn’t until he was 18 months (after learning that his aspiration had worsened) that he had surgery to have a G tube. Now he is strictly fed by tube, no oral feeds at all. During the surgery they took DNA to test him for the Copper Transporting Disorders.
6 weeks after his surgery we finally got the results back saying he does have a Copper Transporting Disorder. We finally have some answers, although they are scary ones! He was 18 months old and he has been tested for so many things and now they know. The hard thing is that he is the only reported case with this exact disease. He is diagnosed with Menkes but it is a little different because he is mosaic, which means he has some good cells as well (they think possibly around 20%).
We have also learned he has Sleep Apnea. He had surgery in August of 2009 to have his tonsils and adenoids removed. If that does not help his sleep apnea, he will need a CPAP machine.
We also learned that Baker has bladder diverticulum and Osteopenia (weak bones), both things we are currently working with Specialists to see what can be done to help him. In June of 2009 we started working with Dr. Kaler at the NIH and we are doing Copper Injections every other night.
Daddy Jeromy & Mommy Amy
We are truly blessed to have Baker in our lives, he is such a gift. If you ever meet him all you have to do is look at him and smile and he will give you the world’s brightest smile in return. He truly is an angel!
This is one of our favorite quotes:
I thought I would have to teach my son about the world. Turns out I need to teach the world about my son, they see a boy who doesn’t speak; I see a miracle who doesn’t need words. (Author unknown)
And brothers Talan, Deegan and Madden
Posted: August, 2009