by Jessica Dronen, MS, CGC, Genetic Diseases Research and Information Specialist
Today is Rare Chromosome Disorder Awareness Day! In honor of that we have a special edition of ThinkGenetic’s book spotlight series focusing on Stephanie Rese’s “Raising the Goddess of Spring: A Guide for Parents Raising Children with Rare Chromosome Disorders.” This book was also written with Dr. Melissa Carter and Murney Runholm with foreword by Dr. Beverly Searle, the CEO of Unique, The Rare Chromosome and Gene Disorder Support Group.
What are chromosome disorders?
Most of our DNA, or the instructions our bodies use to make the things we need, are packaged into structures called chromosomes. An individual typically has 23 pairs of chromosomes in most cells of the body, one coming from the egg and one coming from the sperm. Chromosomal disorders can occur when someone has an entire extra chromosome, an entire missing chromosome, missing or extra pieces of a chromosome, or when the parts of a chromosome aren’t arranged in the typical fashion. The expected health consequences of chromosomal disorders depend on if there is missing or extra genetic material, what genes are included in the missing or extra sections, and sometimes if the chromosomal change is inherited from the egg or sperm. Chromosome disorders can present differently between individuals, even in the same family. There are many known chromosomal disorders. Some of these are “common,” or occur frequently and have been well studied. Others have only been reported in a single individual or a small number of people.
About “Raising the Goddess of Spring”
Among her many roles, Stephanie Rese is the mother of three children. One of her daughters, Maia, has a rare chromosomal disorder called Emanuel syndrome. Stephanie recently published “Raising the Goddess of Spring: A Guide for Parents Raising Children with Rare Chromosome Disorders.” This book aims to provide guidance and support for others raising children with chromosomal disorders by combining insight from her own experiences raising Maia, insights from other parents, and medical information from Dr. Melissa Carter, a clinical geneticist and specialist in developmental disabilities.
“Raising the Goddess of Spring” is in no way meant to be a comprehensive handbook on how to raise a child with a genetic condition. However, it provides helpful information and practical tips on a wide variety of topics ranging from the science behind a chromosomal condition, how someone may feel after receiving a diagnosis for their child, connecting with individuals going through similar situations, and facing medical procedures. Receiving a genetic diagnosis can be very isolating, and there may be a lack of information or support depending on the specific diagnosis and where someone is located. This book aims to give parents support in ways that are useful to them. Stephanie makes it very clear that there is no “right” way to react to a particular situation, and will see that parent contributors can even provide totally opposite advice based on what worked for them.
One of the things I appreciate most about this book is Stephanie’s willingness to be open about when things get tough. She shares her own struggles and touches on difficult topics. The book also contains disclaimers when approaching potentially triggering or controversial topics, giving readers the chance to put aside certain sections until they are ready, or skip them altogether. Above all, I think this book lets other parents know that they are not alone, even though their experiences can be very isolating. Others are having the same or similar thoughts; others are navigating the same challenges. I found myself relating to several topics from my own medical journey, even though I do not have a child with a chromosomal condition. I wish that this book had been around when I was practicing in the clinic, as it has the potential to help so many families even if their experiences are not exactly the same.
Interview with the author, Stephanie Rese
I recently had the pleasure to speak with Stephanie about her new book as well as the support group she founded, Chromosome 22 Central. She graciously agreed to give us some insight into her writing process and the work Chromosome 22 Central is doing.
This book was a long time in the making. Can you describe what inspired you to write a book in the first place and what drove you to finish?
The idea for the book wasn’t actually mine – it was Dr. Melissa Carter’s. She came to me with the idea around the year 2010. We talked about it and realized there wasn’t such a book out there. We got together one weekend and set out all of the table of contents that we wanted to include. We both started our parts right away, and then due to various reasons we slowly worked on things over the years. When I first started it I am not sure I was ready to do it emotionally. I cried a lot in the beginning trying to write Maia’s story. The book was always in my mind and I continued to work on it over the years, even when I returned to university for social work in 2015. It took having me finally settled into a career, school off my plate and Maia well settled in her new life in supported living to feel I could finish it. I felt she had reached adulthood and I now had a background in mental health that helped me shape the final product. It also didn’t hurt that the pandemic kept me home a lot more than usual and I had the time to write.
Can you tell us a little about the cover art on the book?
I’m glad you asked about this. It was chosen very specifically. The lotus flower is very symbolic in Buddhism. It symbolizes growth out of adversity. The lotus flower has its roots in muddy water but blooms into something beautiful. I feel that was true for what Maia has had to overcome in her life, and true in my life as well. I used to feel her disabilities overshadowed everything, and it took me years to realize how important those lessons were and embrace the gift she is to me. The colour blue is representative of her birthstone colour. I wanted the cover to represent growth and hope and I put a lot of thought into the design.
You provide disclaimers in your book before sections that you think may be triggering for individuals. Can you give us an example of when someone may not be ready to read certain sections of the book and talk about why it may never be the right time for someone to read certain sections?
The disclaimers were important to include and this was also feedback I got from people I trusted to review the book in advance. Some of the things that I talk about, miscarriage, child loss, planning funerals, thinking about the future, may be too much for new parents who are barely coping with the diagnosis and possible other life threatening challenges. While I absolutely feel I needed to include all of these chapters, not everyone may need to read them right away. One parent with a young child who wrote a review of the book chose to not read the chapters, “Looking to the Future” and “Facing the Unthinkable.” Sometimes it will be important to guard your hearts and minds and focus on today and tomorrow and not take on those things until you need to. Some people may be going through very challenging fertility issues and may find some of the personal stories shared by other parents very hard to read. The book has a lot of real experiences and these may add to your own burdens. I just want people to be aware and if they do read some of these things, have a means of accessing support. As I said, I cried writing parts of the book, even years after things happened to me. Emotions are raw and fragile at different stages and the intention is not to make people feel worse, but validate their experiences and normalize their feelings when they are ready.
You shared that you were somewhat nervous when the book came out that some people would be put off by your use of dark humor. Can you tell us a little bit about how you’ve come to accept this as a healthy coping mechanism for yourself?
Dark humour is certainly something that I feel is quite taboo but far more prevalent that people will admit in some of our circles. I used it far more when Maia was younger and often I was supporting her through the worst times of her life, especially medically (she’s had about 13 surgeries) or if she was acting inappropriately in public. It was something that I witnessed used among other parents and the chapter included has one parent’s story and her way of coping. It made me very curious to research this because I had become very protective of what I said about Maia unless it was with other parents like myself, as not everyone understood. I did a bit of research on the use of dark humour and found that it’s a very common phenomenon, especially for people who work in the medical field, as a way to cope with sometimes unbearable experiences. This is not unlike parents who are supporting children through some very intense situations. When I tested the book with several people, it was actually a chapter people commented on the most, as their favourite. I wanted to include this topic as I felt it highlights just how intense some of our situations can be and how common it is. I hoped that a parent who may feel they are awful for saying something off the cuff in a moment of stress won’t beat themselves up about it. We are human and have very human emotions and this was one way of coping that I certainly witnessed within our community. It doesn’t detract from the deep level of love and respect we have for our children, but sometimes will give us a mental moment of escape when we just don’t know any other way to process what is happening. As one mother I quote in the book states, “My husband and I often make jokes, so we do not drown in self-pity.”
This fall marks the 25th anniversary of the beginning of Chromosome 22 Central. Congratulations! You give some background in the book but can you tell us a little bit about how your organization came about, the work your organization is doing and what you have planned for the fall?
Yes, thank you – I can’t believe it has been 25 years! When Maia was born, I was given a couple of horrific journal articles on her condition, and told not to expect her to live past five years of age. I didn’t want to accept that was all I could know about her. I felt this desperate need to find others like her, as we were told there were none in Canada. After contacting a number of different organizations (most importantly, the Unique Rare Chromosome Disorder support group in the UK) I found a handful of parents who had children with Maia’s same condition. At the time, it was unnamed, and we set out to understand everything we could about it, and I started a basic website to look for more people. Soon enough I realized that there was not just a need for information on Maia’s condition, but with other chromosome 22 disorders as well. I credit my husband with the name of the group, as after yet another phone call he said, “It’s like chromosome 22 central around here!” and the name stuck. We eventually went on to advocate for Maia’s condition to be named after Dr. Beverly Emanuel for all of her efforts and have an entry put in OMIM and we have done a lot of other work, including the largest study on children with ES to date. While our group’s foundation began with Emanuel syndrome, we represent and support other chromosome 22 disorders and sometimes fund events from other groups that benefit our members. We have had a number of family conferences over the years including being one of 6 co-hosts for the World Congress on Chromosome Abnormalities held in Texas in 2004. We were planning another conference before the pandemic hit. We plan to pick this up once things improve.
In celebration of our 25th anniversary, we will be launching a new logo in the next few months, and working towards an updated website. We will also be holding an online speakers series from September through December on topics relevant to our members. We recently had an intern work with us over the winter, who is a pediatrician and was completing a Master’s in Public Health. She helped with a family engagement survey and we will be implementing a number of new features based on the recommendations from our members. We have a number of new supports planned for the website, including a section on mental health, as this is the area I work in professionally and feel is greatly needed. I have a lot of work to do in the next several weeks!
We’d like to thank Stephanie for sharing her time with us as well as the work she has done to advocate for and educate people about rare chromosomal disorders. As always, talk to your doctor about any information presented in this article, in any listed books or websites, and with any questions you may have about your family’s care.
- Rese, S., Carter, M., Rinholm, M., & Searle, B. (2021). Raising the Goddess of Spring: A Guide for Parents Raising Children with Rare Chromosome Disorders. Independently published.
- CHROMOSOME 22 CENTRAL – Support for disorders of chromosome 22
- Unique | Understanding Rare Chromosome and Gene Disorders