We are so excited to highlight an extremely important group of people in our Rett family, our Rett BOYS. Rett Syndrome is well known as a disease that affects mainly girls, but we have some strong fighters among us and we think they and their family deserve to be heard. For the next several months we’ll be highlighting these one in a million Rett Boys, sharing their stories and how we are all working hard to come together on behalf of all of our kiddos across our communities.
Jen Ballard is mom to son AJ and is the newest member of our GP2C Power Team! Jen shares with us a bit about their journey with Rett Syndrome and their strong fighter AJ.
What is one piece of advice you would give to a Rett mom who is struggling?
Don't give up. It's not going to be easy, but whatever you do, don't give up. At times, it seems impossible, and lonely, but your child knows what’s happening and I believe they know you are trying and doing the best that you can. Try not to compare your situation with another. Every child will have similarities, however, there are many that have differences too.
What would you tell a newly diagnosed family?
Don't jump on the internet and start researching right away. I did that, and it was the worst thing I could of ever done. Start local and then branch out. Look for support groups but be cautious. Most of the times, they are very helpful, however, I feel that sometimes, they can be depressing too. And the big thing, don't change your expectations for your child. Treat them and get them involved in organizations and programs just as you would a child without Rett.
How is Rett Syndrome different in boys than girls?
This is a hard question to answer because all the boys I have met along the way are so diverse. Some similarities are that the boys have seizures and breathing issues. Some differences are that I have seen is that the boys don't always have the hand wringing that the girls have. They also seem to regress a lot faster. My son started showing signs that something was wrong around 3-4 months and at a year we almost lost him. He had a tracheostomy and a feeding tube inserted, and I truly believe that this intervention saved him. However, we didn't start seeing seizure activity until he was about a year and half. That's when we had the epileptic genetic panel done and found out about the MeCP2 male deletion. The biggest difference between boys and girls with Rett Syndrome that I have seen is that most boys do not have a deletion of the X chromosome (like my son has) ... they usually have a duplication, triplication or even a quadruplication which means that there are extra sections added on to the MeCP2 part of the chromosome. And according to research, most boys who have this don't make it out of utero, or they pass within 18 months-2 years ... so every boy that is older is a miracle.
What is your Rett Boys favorite activity? AJ loves music! Music therapy is his favorite thing to do. We are working with him with switches because he has some mobility in his right arm and we have some switch adapted toys we work with as well. He also loves the water.
What has been your biggest struggle so far?
Finding support. It’s been very challenging to find others that "get" us. We have found some other families in the same boat, but we are spread out around the country and the world. Trying to get involved with medical trials Is difficult as well. The life expectancy of boys is short and sometimes I feel like we are just treating the symptoms and just passing time until the inevitable day. We need to bring more awareness in general about Rett Syndrome and help others understand that our incredible boys are impacted as well.
What has brought you the most joy?
AJ’s smile and the way his sister interacts and cares for him. It is truly a bond that is so beautiful to experience. The love they have for each other is incredible.
How do you continue to make time for yourself?
This is a tough question to answer. The last time I took time for myself was when I went for a massage and pedicure back in June. And before that, it was about a year ago. I took a day got out. Between appointments, work, taking care of AJ and his sister, there has not been a lot of me time.
What do your Rett Boys goals look like?
For doctors to test for this sooner and make this test a part of the newborn screening for boys and girls and to bring boys out of the shadows and give them a fighting chance and a stronger voice.
Special thanks to Jen and her family for sharing your insight and perspective. If you are the parent of a Rett Boy, we want you to know that you are NOT alone. We see you and we want to hear from you. Contact Kristin at Kristin@gp2c.org to learn more about the family support available for you and your family at GP2C. Together, we are making impact for our kiddos both for today and tomorrow.