Saturday, April 11, 2015

New Diagnoses

Dear Savannah,

Everyday, I fall more in love with you. You seriously have the best personality, always so happy and smiley. Lately, my description for you is delightful. You are just so delightful. You love when j sing to you, and you love to dance. You have always been musical, and I love this so much.

In March, we received some new diagnoses for you, and for your dad. This past September, we decided to run our final genetic test. You were having a procedure under anesthesia, so I knew a blood draw would not hurt. Daddy and I gave samples of our blood, too. We had a whole exome sequencing test done with only a 30% chance of getting any diagnosis. Well, we received three.

You are currently one of six females in the WORLD with Ogden syndrome. We really don't know enough about this diagnosis because it is so extremely rare, however, I have faith that we will know more in time. I have already connected with two families in the United Srates and I feel thankful to compare all of our precious gems. I am also thankful for the Y chromosome because this same syndrome has been much different for the boys.

We now know you carry a titin gene, a gene that causes cardio myopathy. From my understanding, this can present at any point in your life. It affects the largest protein in the human body and causes weakening of the heart that eventually leads to heart failure. The only real cure  is a heart transplant.  I am extremely nervous. You have a cardio work up later this month so hopefully we will get some more answers. With that said, Daddy has been having heart issues for more than three months. It has been ruled viral but now that we have more information, and the gene comes from Daddy, he is seeing more specialists. I am strongly encouraging him to get another opinion. I pray everyday, that his heart will get back up to normal strength. I pray that it will never become an active gene in your body. I'm overwhelmed to say the least. You and Daddy are my family!

Let's talk about the positives!! You are using a sippy cup more and more. You are still costing us a small fortune in nipples for you Playtex bottle. I am trying my hardest to figure out the next step for a cup, but given your visual impairment, I don't follow the rules here. I would love for you to learn to drink for a straw, but at this point, you don't quite undertand.

Last Sunday was Easter. We spent Easter with good friends this year. It was fun. Easter morning, I woke up to your picture of us in the Boston Globe. My sweet Savannah, this is totally rock star status!! The photo was taken at Perkins School for the Blind at their 5th annual Beeping Egg Hunt. I will have it framed soon:)
 
Everyone you meet, you inspire. You touch the lives of so many. You are amazing and I am a very proud mommy. I love you so much Sweet Savannah Mae.

Love, Mommy