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!!!


H. Alvarado said...

Hey Elizabeth,
Glad to hear that your wait for a dianosis is over! She will triumph in more ways that you can even imagine!! If you ever want a family picture taken, I would be more than happy to (on site, like at the beach or a park or at my house in our "mock photo studio." Talk to ya soon! Kate seems to be looking more and more like Charlie, I think!

Mrs. Lauren Skipper said...

Our prayers are with you and "Baby Kakes." She is a blessing to all who know her and will live a full and blessed life because of her wonderful family. Know that you have the support of friends as well. Love and hugs!!!!!!

Laurel said...

Your family has and will continue to be in my thoughts and prayers.

Kayla's Mom said...
This comment has been removed by a blog administrator.
Mrs. Jennifer Zawis said...

Elizabeth and family:
Our thoughts and prayers are with you. With the support of her incredible family, Kate is going to do wonderfully. She is certain to become a famous model or actress with those movie star lips:) I have to agree with Haley though- she is really starting to look a lot like Charlie these days- how cute!

Dave, Elizabeth, Charlie and Jack said...

Kayla's Mom has left a new comment on your post "Diagnosis at 3 Months Old":

Dave and Elizabeth,

You don't know me but I found your message today on the web. I was in your shoes 4 years ago when our sweet baby Kayla got the same diagnosis. I know your heart is probably breaking right now but I want you to know that there is hope on the horizon for our kids. I run a foundation,, for myotonic dystrophy and if you look at our homepage under latest news you will see an article titled "Genetic Source of Myotonic Dystrophy Successfully Neutralize". This is a huge breakthrough for this disorder and I wanted you to see that article so you can have some good news on what I would imagine is the hardest day of your lives so far. Please know that you aren't alone. If you ever want to talk, please send me an email to: or give me a call ###-###-####

I'll keep your family in my prayers. If you want to see how Kayla is doing, feel free to go to my blog that I've kept since Kayla was 3 days old:

Lisa Vittek

Anonymous said...

We love you and your amazingly beautiful family soooo much! We can't wait to hold "Baby Kakes" in our arms and love, love, love on her. We know that our Lord has a wonderful plan for her and we look forward to watching her and the Conte's triumph! I am so proud of you Bissy, YOU ARE MY HERO! God could not have chosen a mama more perfect for little Kate!
P.S. Kallyn Lily sends her hugs and kisses and is looking forward to a play date soon!
Randi and the Timmons family

Debbie Harbour said...

Elizabeth and Dave,
As hard as it is to hear the diagnosis, I am sure it will help in your process of taking the next steps. Now that you know the problem, you'll know how to help her even more. She is such a beautiful little girl and a blessing. Kate is fortunate that she has such loving parents that will give her all the love and support she will need. It is apparent how much Charlie loves her as well. You all will stay in our prayers.

Lori said...


Know that you guys are in my prayers, as you walk through this with Kate. I miss all y'all in sunny Florida, and you are never far from my thoughts.

See ya cuz,