Receiving the diagnosis

“Seeing this picture of my son hitting a piñata at a birthday party honestly made me teary-eyed! I wish I could go back in time and tell the terrified me when he was born (and quite a while after), how despite all the hardship there will be even more joy. Gosh, our kids are so amazing!”

For some of you, receiving the diagnosis of Emanuel Syndrome did not come immediately. Sometimes, children with ES are identified as having something else first, such as having a cleft palate, experiencing feeding or breathing issues, or finding a heart defect; things that lead to further investigations and the underlying diagnosis of ES.

Any parent will tell you it feels like the world stops for a bit. We all know how you feel. Here are a few comments from the book, Raising the Goddess of Spring from other parents:

“When my son was diagnosed, I wanted to know everything I could and no doctor knew about this. The information there is available at the c22c.org web page was very useful. I printed the whole list of what is mostly seen in our kids and marked the things my boy had, so whenever I go to a new doctor (that used to be quite often) I was the one who knew most of the information on ES and I carried a copy of the list to show. I also carry a copy of the 2009 study on the natural history of ES. I made a written follow-up of all the medical issues my son has faced because there are so many that you can sometimes forget.”

“It is important to take the time for yourselves and your baby. Not all parents will react the same way, but take time to understand what the diagnosis will mean for your family. Give yourself time. Time to cry, time to grieve. You were expecting a healthy child, and learning that this child will face challenges is incredibly overwhelming and emotional. You may need to grieve the healthy child you were expecting. It is not something you can just get over in a day.”

“There is no denying that anytime a baby is brought into a family, things change. It is at best, a stressful and exhausting time. When your child is born and given a rare diagnosis and may possibly have serious medical problems to deal with, this only adds to that stress. You will need to be prepared for possible medical procedures, the time required to take your child to therapies, and sometimes needing to learn a new skill that other parents do not need to know, to be able to take the best care of your child. You will need to be prepared to discuss the diagnosis with other members of your family, friends, and sometimes strangers. This can be a difficult thing to do about something that you don’t always understand immediately yourself. It was not just you expecting to have a healthy child, but anxious grandparents, uncles and aunts, young cousins and family friends.”

After receiving the diagnosis – What do we do first?

Catch your breath. Take some time to accept the news you have been given. Learn everything you can about this condition as you will become your child’s advocate. The process of learning about ES may help you feel better. You will see that many others are on the same journey as you.

“We have always been ‘go-getters’, achievers and just folks who know what they want and work hard to get it. With our daughter, we were quick to realize that ‘fixing’ ES is not going to happen. So the feeling of helplessness of trying to change this for your baby was really tough … but instead of focusing on ‘fixing’ her, we fixed ourselves and how we view the situation … it makes having her around a true blast!”

As ES is so rare, the people who will surround your child will likely have never heard of Emanuel syndrome. Tell them about this website. You can also download the free guidebook (LINK) available on our site to share this with others.

When you are ready, connect with our families. We are easily accessible to talk on the phone, on the Internet, or communicate by email or on Facebook.

Remember, there is no timeline to process this. There are a lot of us here to help you.

“I couldn’t live without the friends that I have made online. I appreciate the support, prayers, and love. Finding out our daughter had ES was the worst day, the day she was born was the best!”

“The most important thing you can do is to get connected with other families. We all have different stories and our kids present in a uniquely different way, but when you are told by every medical professional you come in contact with that they have never seen a child with your child’s diagnosis it becomes a very lonely, scary, discouraging road and having someone who truly understands the isolation is a powerful thing.”

“This journey can be a hard one but you don’t have to walk it alone. This child who has been entrusted to you will also put you in the path of those who you may have never met. Our life is much richer because of it.”

What you can do right now:

Feel what you will. Accept that this is a confusing and difficult time for the moment.
Take the time you need, but don’t isolate yourself for too long.
Maintain a sense of normalcy. Keep routines that are important. Lots of things will change, but not everything has to.
Don’t place limits for the future or think too far ahead. There are children with ES who do far more than was thought possible when the disorder was first identified.
Take one step at a time. You don’t need to figure everything out right away.
Request information – from us, from your doctors.
Learn all you can.
Write down your questions.
Reach out to family, friends, our group members. There are so many of us here to help you when you are ready.
Realize that things you read on paper – even on this website and in medical reports, don’t give the true story of what your child’s life will be like. On paper, many of our children seem to have so many challenges! But they are far more than you can imagine! You are going to be celebrating holidays, achievements, milestones and family time just like a typical child. There is going to be laughter, joy, fun, and you will love them immeasurably.

In 2021, Stephanie, founder of C22C, wrote a book along with Dr. Melissa Carter and C22C President Murney Rinholm, about her journey with Maia, from the time she was born in 1995 until she became an adult. It is called, Raising the Goddess of Spring: A guide for parents raising children with rare chromosome disorders. The book includes stories and comments from 65 other families who are part of this group. It may help you to read it when you are ready. Learn more about it here.

If you continue to struggle, you can join our Facebook Support Group

Also of interest: Medical Issues, Life Stages, Emanuel Syndrome Awareness