4p Noses

 When we first received Ellie's diagnosis of trisomy 4p we had so many questions and very few answers. Just as I was resigning to the fact that Ellie's life was going to be full of unanswered questions, I found a facebook group for families of children with trisomy 4p. There are 81 people in the group that represent 43 people with trisomy 4p ranging in age from Ellie to a 28-year-old. I was so excited. I had read every article I could find and knew about a lot of possible problems Ellie might face, but to be able to see pictures and talk with other parents who were dealing with it first hand was more than I had ever hoped for. When I checked out the group for the first time I was secretly hoping to see children who were leading perfectly "normal" lives, but as I started reading some of the conversations going on, my high hopes were shattered as I read about seizures, severe scoliosis, IEPs, medical tests and procedures, and assistive devices that fill these children's lives. I stopped reading. It was too much. I started just looking at the pictures instead. I was overcome with emotion as I realized that Ellie has the 4p nose. Some of these kids look more like Ellie than her own siblings do. After 3 months of feeling so alone and scared I was finally surrounded by a group of people who knew exactly what I was going through. I have grown to care so much for all of these people who I have never even met. I find my heart aching for their setbacks and celebrating their accomplishments right along side them. There is one little girl, Natalie, who I feel especially close to because she has had a lot of the same issues as Ellie and also required a trach.

 She was successfully decannulated almost a year ago when she was 2 1/2. She just started preschool and her mom reports that she is doing great. When I saw this picture of her walking down the hall on her first day of preschool with her older brother I wanted to print it out and hang it on my wall because I loved it so much. Can't you imagine this same scene playing out three years from now with Miles and Ellie? I can only hope for as much. Watching this sweet girl gives me hope for Ellie's future.

A lot of you have asked what Ellie's 4p means for the rest of her life. While all the children with 4p have different challenges and capabilites, there is a lot of overlap in their presentation. I've learned that some of the more common problems include feeding difficulties from an early age sometimes resulting in feeding tubes, difficulty walking with most kids not walking until they are 3-4 years old and requiring assistive devices and braces, speech delays with children ranging from non-verbal or non-conversational to being able to eventually talk, seizures that occur multiple times a day and are very difficult to get under control even with multiple medications, small size and stature, many orthopedic issues including severe scoliosis, prone to frequent respiratory infections, eye and vision problems, unexplained sleep issues, and dental issues like extra or missing teeth.
Reading that list of problems can definitely feel a little depressing and hopeless. But I want you to look up at every single one of those kids and notice that no matter what their development levels or medical conditions are they all have one thing in common. Every single one of them has a smile on their face. These children bring so much happiness and love to everyone around them.
Ellie is extremely interactive with us. She makes eye contact, smiles at us, tracks us around the room, and definitely knows and responds to our voices. She's a mama's girl and when she looks at me there isn't an ounce of doubt that she knows who I am and loves me.

That's all I need. Any other milestones she reaches along the way will just be a bonus. 

I am so grateful for all of our new friends and the help and support they provide as we try to figure out 4p.