Monday, July 14, 2014

Diagnosis and Feelings

When I was about 20 years old I was working at Young Singers Club. We had a small children’s ensemble that rehearsed at the Labero Theater practice rooms. One day during practice one of the little boys had an episode of some kind… he couldn’t breathe. He was a small and frail boy. He had some sort of handicap, but he was so sweet and he loved to sing. During his emergency the other kids started to panic, which only made his problem worse. The only adults in the room were the program director and me, and she asked me to help him while she stayed with the other kids. I quickly and calmly took him into the bathroom and shut the door. I sat down on the dirty floor and held him on my lap. I talked to him soothingly and told him that he would be fine. I told him to breathe with me, in and out, in and out. I heard his sister crying outside of the door calling her mom on the phone and asking if he was going to die. I just held him and smiled at him and kept breathing with him, in and out. His breathing got slower and better. He was fine. And I remember the thought coming to me very clearly: I think I’m going to have a special needs child some day.

I forgot about this event until recently.    

Ezra has been diagnosed with a rare genetic disorder called 13q deletion. The specific part of the chromosome that is deleted is 33.1. There are only hundreds of cases that have ever been recorded and every case seems different, but there are several common traits: small head, wide-set eyes, wide nose bridge, hand and feet anomalies, skull issues, low muscle tone, and lung problems. Those are the common traits that Ezra has. There are several more that are on the list that he does not have, and we are grateful. For instance, every case I have read involves feeding problems and/or failure to thrive. Ezra has always eaten well (thanks to lots of trying and non-traditional positioning) and has grown beautifully. 

Rocking the helmet. I kinda like it white. 


It also seems that almost every child with this disorder has learning delays and physical delays. Who knows how it will affect Ezra. There is a case of a child with 13q deletion running at two years old, and others of children who cannot walk at four. His physical therapy seems to be helping him, so I’m hopeful in that department. Most cases report that children have a hard time learning to read, write, and speak. They also report a shortened life span, but I don’t know what this means for our boy. We have some answers, but we still have many questions. Some of those questions can only be answered with time. 


When I first got the news I took it well, but I cried anyway. I was shocked and overwhelmed. I mourned for the future that I had unconciously imagined for him. I was scared about what this diagnosis meant. How severely will it manifest? How will it affect Ezra? How will it affect our family? I still have those questions, but they don’t make me as anxious as they once did. Dan did not cry. He is a man who takes things a step at a time, and not much can shock him. The only time he teared up was when we sat our older kids down and told them about Ezra’s special circumstances. He told them that he knew they would be wonderful older siblings to Ezra because of their goodness and the love that they have for him. They really do show such love and devotion to their baby brother. 

Bath time boy, no helmet. 

 I have thought a lot about this situation, and I really have come to view it as a blessing. Ezra is the happiest and sweetest baby, and I get to interact with him every day. I get to serve him. I get to be his mother. He gets to teach our family about empathy and compassion and patience. If it turns out that he can’t speak well, we will all get to learn sign language or another way to communicate. Ezra's name means "help"-- he will need help and he will be a tremendous help to others. We are the lucky ones who get to be with him the most. There was a 1 in several million chance that I would have a baby with 13q deletion, and I won the lottery. I would not trade Ezra for the world. 

(PS I need to say that many people have prayed and fasted for Ezra and for our family, and we are so grateful. We are humbled and we love you all.)   



9 comments:

Rachel said...

I love this post and I live sweet Ezra.

Joanne Lubeck said...

I have the chills, Jamie. Being a newer mama myself, I just feel for you so much. Ezra truly is the luckiest boy in the world, and as are you to have him bless your lives. Always sending love and light and ease your way.

Jennifer Kimberly Kruse Hanrahan said...

I am totally thrown and crying still. I know it took a while for you to be able to write this. Every is saying and will say how strong you are, but I know it is always going to be one step at a time.

Lori said...

Thank you for sharing your thoughts with me Jamie. You have a beautiful and healthy mindset and the best family for Ezra to grow up in! I love you.

Kristy said...

I ditto Lori. You have a wonderful perspective on your situation.

Tracy Mills said...

Also ditto my sisters. You are the perfect mom for Ezra. What a sweet boy with the cutest smile. So glad he is a part of our family. Love you all.

Brian said...

Awesome.

Lynette Mills said...

It was great to spend a few days with your sweet family. You have a gift with writing Jamie! You also have a gift in Ezra. I'm excited for the adventure of being his grandma.

Meichelle said...

Hi Sweet girl,
Just had lunch with Sue M. and she mentioned your blog. I did not know about your little Ezra and his special dg. Just wanted you to know I adore you and am certain that you are the particular mom needed for Ezra.
You are in my thoughts and prayers as you travel this road. Hope to see you next time you are in SB.
Lot of Love,
Meichelle