Going With My Gut...

Ella and Jason just after she was born.
Love at first sight!

Since the day Ella was born, Jason and I have vowed to give her everything she needs to have the best life. It was actually a promise we made to each other long before we had children. I think we have done pretty well so far...especially given the many issues we have dealt with over the past few years. Ella is growing and thriving. It is a wonderful thing to experience. It's not enough for us though. I have had this gut feeling for a while now (call it mother's instinct, I guess). I feel like there is still a missing piece of the puzzle or something more that we could be doing for Ella to make sure she reaches her full potential. She sees her doctors regularly and we seem to have her medications sorted out. It bothers me that I have to feed her five different doses of drugs every day though. I constantly wonder if we are doing the right thing. The specialists we see here in Albany are good, but they are not the best. I am not always confident they can handle the complexity of Ella's situation. When it comes to your child and medical care, confidence is very important.

 We want a second opinion and that is exactly what we are going to get! The process is underway now (insurance approvals, referral letters, etc) to get Ella into Boston's Children's hospital. I have done some research and found a specialist at children's. Dr. Joel Hirschhorn is a pediatric endocrinologist specializing in genetics. He works with a team of doctors in Children's endocrinology department which treats children with some of the rarest conditions. It seems like it would be a good fit considering Ella's genetic diagnosis and her hypopituitarism. Dr. Pelnik, our phenomenal pediatrician supports us 100% We have had many conversations over the past year about pursuing this opportunity. I had a long conversation with her yesterday and she assured me that this is the BEST thing that we could do for Ella. While she knows the doctors here in Albany are very qualified, they do not have the experience or resources that the doctors in Boston have.

Hopefully we will have all the necessary paperwork and appointments set up within the next week. I am anxious and nervous about the entire process. It opens us up to another round of difficult visits, but Ella will have the best doctors following her. I know in my heart we are making the right decision!

The Ride Of Our Lives...

When you have a child, you know your life is going to change! I never expected I would be where I am today...and I wouldn't trade it for anything. I am entering the blogosphere at the encouragement of my sister. She says "our story" may be good for other families navigating the world my husband Jason and I were thrown into two years ago. I know, I know...I'm burying the lead...the opposite of all my journalistic instincts, but this story is different than the news that drags me into work at 3:30 am every morning. This is my life.

On June 15, 2009, Ella made her dramatic entrance into this world. We should have known right away that Ella was going to do things her way...and Jason and I were along for the ride of our lives. Our little Pnut was a few weeks early and tipped the scales at just 5 lbs. She had thick black hair and a tiny, tiny cry. It was love at first sight. She was sent up to the NICU for a closer check and a little help eating. Stressful: yes, but a minor bump in the road. When Ella was one week old, that bump became what seemed like a mountain (at the time).

Ella was diagnosed with a chromosome 18 abnormality. The genetics report lists it as mosaicism for monosomy 18p and monosomy for the short arm of 18 as well as trisomy for the long arm of chromosome 18. I remember the day the genetic councilor coldly came into the room and told us the many grim and hopeless statistics. She also said this was very,very rare...in fact, the doctors couldn't find any other cases containing this type of genetic makeup. I googled chromosome 18 issues (scary stuff). I cried and wondered what the future held. Then I put that report aside, buried it in the mounds of hospital paperwork and focused on my baby and doing everything I could for her. Ella went through every test, scan and screening a newborn could go through, brain ultrasounds, spine X-rays, eco-cardigrams, a check of her kidneys, eyes, ears...the list goes on forever. Everything checked out great!

Today Ella is a precocious two year old who continues to amaze us every day. We have learned so much since her birth. Now my hope is that sharing our experiences will help other families facing similar situations. It hasn't always been easy, but through persistence, we have gotten answers. The grim outlook we were given that day in the NICU is NOT the little girl who makes us laugh every day. Ella does not resemble any of the characteristics of chromosome 18. She is happy, healthy and thriving. We have found what we feel is the best situation for Ella's growth and development. We have a great team of doctors and therapists, and the amazing support of family and friends. Now I want to record our journey....for the love of Pnut!