Mommy always knows!!!

First I am too excited to keep it in...as most of you know by now, we finally have a answer to all this weird behavior that Maddie has exhibited in the last year...She had her exam today under anesthesia and low and behold, Maddie has Thygeson's Disease. This is the rare eye disease that I found a few weeks ago in all my research that I wrote about early on. This is EXTREMELY rare...so rare that they don't even know how many people actually have it. Either way, they found it...both her eyes. She has a pretty bad case of it and we were given some steroids for her eyes. We were told it could be a matter of days before this treatment kicks in and we will have a new child on our hands....a happy, pain free child!!!!!

This is info from an up to date site about the disease...

Thygeson's Disease is a Disease of the Cornea...the Superficial Layer of the Cornea. It is also called Thygeson Superficial Punctate Keratitis or TSPK. "In 1950, Phillips Thygeson published case reports on a superficial punctate keratitis that he described as a transient, bilateral disease, having coarse corneal epithelial opacities and no associated stromal involvement. Today, this condition, now known as Thygeson superficial punctate keratitis (TSPK), is a chronic one, lasting years to decades. Multiple, whitish gray, intraepithelial corneal lesions, are trademark characteristics of the disease. "

Although TSPK has a genetic association with HLA-DR3, controversy exists regarding its exact cause.
Artificial tears, topical corticosteroids, topical cyclosporine, and soft contact lenses are the typical treatment methods for the disease, and the success of these treatments varies according to the severity of the disease.
Although vision may be mildly decreased during the active disease, the long-term visual prognosis is excellent.
Symptoms can include: Burning in eyes, photophobia, gritty feeling in eyes, tearing, and blurred vision.
Here is another site that talks more about it in length...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1312196/?page=1
Ok- so now that you know about the disease, imagine what these symptoms could look like in a 1 year old toddler...this is why I am convinced her behaviors are from this disease along with the Cortical Dysplasia and Heterotopias.
I said it all along...I knew it was her eyes...I just knew it. They said it was neurological because of the stuff in her brain...I knew it wasn't. A Mommy always knows :)
I am so exhausted but wanted to put in this update tonight as this is the biggest news we have had since The MRI at 11 months...Maddie will have to be treated for this for a long time and the treatments are risky for glaucoma and Cataracts...but this is something we can handle. I am hopeful that Maddie's pain will be managed soon and I thank God and all of our friends and family who have been praying for our Maddie...Oh and thanks to my Aunt Patty and the Monks in Missouri who have been praying too:) We heard about those guys :)


I feel like we are now going to be staring our new life together as a family who can focus on the future...Something that has been impossible to do in the last year and a half. I am more proud of Maddie today than I have ever been in her life. She has been going through this pain for over 7 months now and with it continued to make incredible developmental progress.
I will write more soon. We are so exhausted as all this emotion is finally able to be released and we are all breathing again in our home. We finally have answers...finally