The Answer...

...to all of the questions. Miss Reagan has taken us on quite the little journey since joining our family just 6 months ago. We've been to a lot of doctors and we've been slowly but surely finding the answers we have been looking for.

Reagan has a very special cardiologist who went completely out of his way to get us into the geneticist (who is booked out until May 2011), he got us on a waiting list for an opening. And about a month ago, they called. I was especially nervous about this appointment, knowing in my heart that he was going to confirm what had already been suspected. But as soon as we met him I knew 2 things. 1 - Why people wait so long to see him, he is just a neat person. There was something very calming about him. And 2 - That everything was going to be ok!

After a couple of minutes with Reagan, he made a clinical diagnosis of Rubinstein-Taybi Syndrome or RTS or Broad Thumb Syndrome. Very generally speaking, it's similar to Downs Syndrome. They are smaller in stature, they have similar facial features to others with the syndrome. (Although, he did point out that her features were not as dominant as they could be.) And yes, she will also have special needs. Her fingers, high pallet, toe and feet, trachea, and even her beautiful hair are all symptoms. It is very rare, about 1 in 300,000. There are a lot of associated health problems: heart, lungs, digestion, feeding, sight, skeletal deformities, etc. - ranging in severity. Most of which she has had no sign of. The fact that she came home with us like any normal healthy baby is truly a miracle! And she has stayed that way! We have been SO blessed! And we see it every day!

I have always marveled at what a miracle babies are. Especially my own! How they somehow manage to be born with all their working parts! And then they grow, and learn, and change, and everything just keeps up! It really is a miracle! ...When I look at her, I understand it differently, more deeply, it's somehow magnified. That that one chromosome, one microscopic defect, changes everything. And yet, for everything that it changes, she is somehow as perfect as she is! Beautiful and sweet and healthy and perfect!

(Her cute hair for the 4th of July.)

I'm not going to lie and say this has all been easy. There have been tears, lots of tears. For LOTS of reasons! Fear, gratitude, heart break, love, sadness and joy! And prayers, for just as many reasons. We have spent a lot of time on our knees. And we have been especially grateful for all of the love and support and prayers! It hasn't been the easiest road, the past 3 months have felt like a lifetime! But we're here now, at a second beginning, with an answer and a direction.

(The 3 of them, watchin' a movie. I love this picture.)

We continue to learn and grow and be forever changed by her presence in our family. She's made a special and unique mark. Just like her brothers. They each have their role, their personalities, their challenges, their strengths. They teach and love each other so much! It's what makes us great as a family. And we want the same things for all of them, to be happy and to be loved!

Where we go from here? We will be following up at the geneticist with blood work. RTS is not always provable with testing, which is why its a "clinical" diagnosis, but we still need to get it done. However, that does not mean that there is a chance she doesn't have it. She has been diagnosed. We are going to the eye doctor next week to check things out. And she will also have her 6 month check-up next week. She is now the owner of a duel foot brace, we call it her snowboard. It's meant to hopefully correct her feet and help us avoid surgery. She will be in it 20 hours a day for 3 months. So keep your fingers crossed! :) If you would like to learn more about RTS you can visit http://www.rubinstein-taybi.org/ .

She is our daughter, and we love her more than she may ever know! We have no doubt she is exactly the way she is supposed to be! She will be our sweet, innocent little girl for her whole life! And we couldn't be more humbled or grateful to have her!