How we found out.

One of the most frequent questions we get asked, other than, what does it mean for Sadie, is "How did you find out?" Here's the story, in a nutshell...

It all started with Sadie's right eye. Shortly after Sadie was born, we noticed that her right eye was not opening as well as her left. We mentioned this to the pediatrician who attributed it to a clogged tear duct, which are common in newborns. A week later, when her eye still was not opening very well, we were referred to an opthomologist who diagnosed Sadie with micropthalmia and sent us to Children's Memorial Hospital for an eye exam under anesthesia. The journey began...

The photos above show what the eye exam revealed. The top photo is her right retina. The bottom is her left, which is more normal-looking. As you can see, Sadie has peculiar scars (lacunae) on her right retina. The opthalmolgist was not sure how the scars came to be, so we were referred to a retina specialist as well as a pediatric eye infectious disease specialist (yes, they exist). At the time, we were experiencing what we thought was our worst nightmare, that our daughter may not have vision in her eye and may need to wear a prosthetic.

It was around this same time that Sadie started tensing her body in a strange way. Her legs would come up and her arms would curve inwards. The pediatrician initially thought it was due to acid reflux. A few days later, she was still making these strange movements, and we started to notice that the movements came in clusters. After doing some research online, I found a link about a type of seizure called "infantile spasms." Anyone who deals with a sick child knows that the internet can be your worst enemy. After watching a few online videos, I knew that this was the same movement that Sadie was having. The online definition of infantile spasms is "catastrophic childhood epilepsy." My heart broke.

We were sent in for an EEG and then an MRI. The EEG showed abnormal brain activity. The MRI showed fluid-filled pockets in the brain as well as a missing corpus callosum. I remember getting ready the morning of our first neurologist appointment. I had a feeling that we wouldn't be getting good news. That was the morning of June 18th, the date Sadie was diagnosed with Aicardi Syndrome. The day our lives changed forever.

It all came together. Everything that Sadie had been experiencing - the retina scars, the spasms, cysts, missing corpus callosum - were symptoms of the syndrome. Looking back, how silly and vain I was to be so concerned about a lack of vision and a smaller eye. How I wish now that these were the only problems Sadie would have to deal with.

A week of firsts. Good days and bad days.

It's been a whirlwind past couple weeks. Many firsts have happened since our last post.

We spent the first night in our new home. After a lot of stress with coordinating move logistics and closing paperwork, we have officially moved in to our new house. I can't tell you how excited we are to finally be settled.

Sadie spent her first full night in her crib. Up until now, she had just been taking naps there. Call me a paranoid parent, but I had her sleeping overnight next to us in her pack and play for the first five months of her life. With all the changes in seizure meds, etc., I wanted her next to me should anything happen overnight.

Developmentally, Sadie has seen some very good progress. She is reaching for toys with both hands. She had previously only been using her right hand, as her left side of her body is weaker due to the more extensive damage on the right side of her brain. Sadie transferred a toy from her left hand to her right - a task her therapists said may be difficult given her missing corpus callosum (the part of the brain that connects the left and right hemispheres). She is also grasping her bottle with both hands!

Sadie also discovered that she loves to play peek-a-boo, and on rare occasions, she will giggle, which makes her mommy extremely happy. Although, every time I try to capture it on video, she becomes decidedly quiet.

We had our first meeting the neurosurgeon this week to discuss Sadie's MRI results. Overall, he said there is nothing to be concerned about at this point. She will have another MRI in January to continue to monitor the brain tumor, called a choroid plexus papilloma.

Later this month, Sadie will go in for another overnight EEG to monitor her brain activity. We are hopeful that this EEG will show some improvement in the seizure activity in her brain. Sometimes, seizures can occur in the brain, but show very little in terms of outward characteristics.

Sadie will also have her first ERG (Electroretinogram), a test designed to test the visual function of the eye. We hope that we will finally get a definitive answer on whether or not she has any vision in her right eye. The test will also give us information about her peripheral vision, as peripheral vision loss is a potential side effect of one her seizure medications.

There are also a number of "firsts" that we're anxiously awaiting.

Sadie is still working on her head and neck control. We, along with her therapists, continue to give her a lot of tummy time to help strengthen her neck and back muscles. We look forward to the day when she can hold her head up independently.

Personally, we are working on how to respond to questions we get about Sadie, something we've struggled with since Sadie's diagnosis. How do you respond to innocent comments from strangers like...."Is she sleeping thru the night?" "Is she sitting upright?" or "Just wait until she's running around." While I'd rather not lie, the truthful answers or responses seem too heavy for this light conversation. The honest answer would be..."No, she doesn't sleep well because her seizures wake her up every 3 hours." So, in the meantime, we put a fake smile on our face and give our generic reply - "She has good days and bad days."

Overall, the "first" we most look forward to is Sadie's first seizure-free day.