Wednesday, August 12, 2009

Diagnosis at 3 Months Old

Well, yesterday Kate turned 3 months old. My sister-n-law helped me take her 3 month pictures in a sweet little dress (given to her by my other sister-n-law) and wearing a cute matching barrette (made by my sweet friend). She looked so adorable and we finally got a picture of her little smile.

Today, we finally received a diagnosis for Kate's condition. The Neurologist told us this morning that her DNA test for Myotonic Dystrophy came back "abnormal" and she has Myotonic Dystrophy (DM 1). The emotional stress we have endured today has not been easy, but we are trying to keep in mind the comforting words the Geneticist told us a couple of weeks ago before the results were back....treating the patient and not the disease. He told us to look at the progress she has been making over the past month and not to focus on all of the negative things about the disease that may or may not affect her. Dave has done a lot of reading today (I'm not quite ready for all the scary facts). Since this is a hereditary disease, we will have to see the geneticist for family genetic counseling.

I know it will take some time for us to process all of this, but we wanted to go ahead and share her diagnosis with all of you that have been praying for and thinking about Kate and our family over the past three months. We know that God has a special plan for Kate and I feel blessed to spend each day with her. The road ahead may not be predictable, but we will do the best we can to continue our family life as normally as possible. Thank you all for your continued prayers, love and support!

Dave, Elizabeth, Charlie and "Baby Kakes"

PS- Dave sent the message below to his family this morning:
As you all know by now we got the diagnosis we have been searching for since Katherine's birth. While it wasn't the one we wanted, it is what it is and we will deal with it. With that said I get a lot of questions as to what is DM1 ( Myotonic Dystrophy type 1) ? Well, I have found 2 links (from the same site) that explain what it is globally and more specifically what hers is. She has what is called congenital DM1. So when you are reading you can sort through what to read and so forth by only reading about the congenital. While there are some disturbing things you will read we are hopeful she will be better than all those. Unfortunately we are left with watching her as time goes and handling the issues that arise one at a time. Enjoy!!!

Friday, August 7, 2009

Making Progress

Our little Kate is making progress and we are so thrilled to watch it all happen. Her muscle tone has been improving some and she is trying to put her hands in her mouth quite often. Her feeding has improved some and at times, she can suck on her bottle with very little help from mommy. So watch out daddy, it is going to be your turn to feed her soon! The feeding/speech therapist told us today that she won't need to see us again until next month...hooray! Lifting her head is still a big struggle for her, but her physical therapist is teaching us new exercises every week to help her strengthen these muscles.

We met with the Geneticist last week, and had a great 1 1/2 hour conversation with him. He was very positive with us, which helped us walk away feeling positive. He basically told us that even if she ends up being diagnosed with something down the road, that it is not a "sentence," but rather some insight to help her. He told us that we need to focus on the progress she is making and gave us many examples of patients who have exceeded the dignosis' expectations. So, with that said, we are still a little nervous about our appointment with the Neurologist this coming Wednesday, where we should find out the results of the Myotonic Dystrophy DNA test, but are hopeful that she continues to improve.

The orthopedic doctor had us try some special shoes attached by a metal bar to help correct her positional club foot, but they gave her a bad blister. So, at our visit last Thursday to Nemours, the doctor casted her left leg/foot. She will wear this cast for the next three weeks. We are hopeful this will do the job!

Grandma (my mom) and Glamma (Dave's mom) have been helping out SO MUCH with Charlie during all of these appointments for Kate, and we are so grateful that they live near and have flexible schedules. Last Thursday, we all got to go to Chik-fil-A together.

Thank you all for your love, support and prayers!