Newly Diagnosed

For children newly diagnosed

The diagnosis is the part that, for most parents, is hard to swallow (unless you have been begging for answers for a while and are relieved when you find out your instincts were correct). Receiving the proper information and counselling is important because it will help you understand several things. Ideally, you should receive information on what to expect in general for your child, and what you can do to help manage the challenges that your child may present both medically and developmentally. If the chromosome disorder arises due to a chromosome difference in the parent, it will help you understand the recurrence risk for yourself and other family members, and what alternatives are available to manage that risk. It will also, hopefully, offer some insight on how to adjust to the disorder 

I know for myself, receiving the diagnosis is a day you do not forget. It is a life-changing event, and it is not unexpected for you to shut down, get angry, cry, feel guilty—I did all these things. I recall feeling so overwhelmed with the fact that Maia’s disorder was so rare that I had wished she had Down syndrome. At least I had heard about that. I know from talking to other parents that there were certain things they wanted to hear when they received the diagnosis. There is a collective experience of being offered scientific articles on their child’s condition that sound pessimistic, which are often very outdated. That is, if there is even anything on your child’s disorder to be found. There will be nothing to offer if the disorder is ultra-rare or unique. Parents are often given very little at the time of diagnosis beyond a genetics report (often they have to ask for a copy of this!) and told that the predicted outcome for development is unclear. In cases of very rare or unique conditions, there may be very little information to be found or worse, nothing at all. But typically, you are not given that diagnosis along with some of the joys that come with raising a unique child and all the good things you will experience because of them. When Maia was born, I became a mother. You are a parent! You can still absolutely celebrate this.

Most parents just really want to hear that it isn’t the end of the world. It is more so the end of the world that you expected, though. When we plan and hope for so long for that perfect child, we fill our minds with all kinds of beautiful expectations. We imagine how proud that child will make us when they take that first step, say their first words, graduate college, and get married—all the emotional investments you make while you are expecting your baby. These expectations are real and powerful. My daughter didn’t get to experience any of those things but that doesn’t mean that she hasn’t had amazing experience and a major impact on the world! You need time to let some of those ideas change. It is okay to let yourself grieve for the child you expected. It is normal and part of the process. 

-Stephanie, excerpt from Raising the Goddess of Spring

For some of you, receiving a diagnosis for your child did not come immediately. Sometimes, children 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. Any parent will tell you it feels like the world stops for a bit.

Stop and catch your breath. Take some time to accept the news you have been given. Eventually, you will learn everything you can about their condition as you will become your child’s advocate. The process of learning about your child’s condition may help you feel better and give you some sense of control and understanding. You will also come to see that many others are on the same journey as you.

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. 
• Take one step at a time. You don’t need to figure everything out right away. 
• Request information from the people involved with your children. 
• 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. You are going to be celebrating holidays, achievements, milestones and family time just like a typical child. There is so much to look forward to!

In 2021, Stephanie Rese, 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 can help prepare you for what you might expect, and includes stories and guidance from many other families who are part of this group. It may help you to read it when you are ready.

Also please connect with us – we are looking forward to welcoming you to our online family!