Updated: Sep 14, 2019
By: Melissa Slick
September marks one year with the EBF3-HADDS diagnosis. I will never forget the day we finally received a diagnosis, and one that actually made sense! In the 2.5 years prior, we were in and out of specialist's offices trying to get answers; but with every test, (and let me tell you Evie has been through it all) we would always get the “normal female” result. So up to the point of finding out about her gene mutation we were at a loss. My husband and I decided we were done with testing and had agreed that we were going to take a break and just let her develop as we couldn’t do this to ourselves, our family or Evie anymore. It was so emotionally draining and not fair to her as our life revolved around doctor appointments.
As great as it is to get an answer, it is never easy to hear that there is actually something wrong with your child. The appointment with her geneticist seems like it was just yesterday. I’ll never forget sitting in the clinic room hearing her doctor say that something did come up on her test. It’s a feeling I have never felt before, both a sense of relief but yet complete uncertainty for my daughter’s future. As she went on to talk about the EBF3 mutation she explained how rare it was and that there is not much information on it at this time. That made my heart sink. So we now have a diagnosis but yet there are no answers. We went home with a packet of paper that had the very limited information that they could find on EBF3 gene mutation. And what little information that we were given was like a foreign language that we would soon have to learn. The geneticist also told us about a Facebook group and Dr. Chao in Houston, TX who helped discover the mutation. We had a two hour drive home so I immediately joined the Facebook group and emailed Dr. Chao.
In the last year after receiving the HADDS diagnosis, we immediately scheduled new appointments with a Cardiologist and Urologist to get an evaluation and further testing as those are some of the issues that are present with other HADDS patients. We flew our family out to Texas Children’s Hospital and met Dr. Chao and Dr. Wangler who are now Evie’s Neurologist and Geneticist. Evie is now a part of an ongoing research study and we are so thankful for this team that is so passionate about taking on the challenge of understanding the EBF3 gene and how it is affecting Evie and other children and adults around the world. Going to this appointment opened our eyes to see how big this whole thing is that we are a part of. We were able to meet many of the other families that are going through the same challenges as we are.
As the year continued, Evie started at Loma Vista, a local Special Ed pre-school that is integrated into a classroom with typically developing children her age. She also has continued with her amazing physical and speech therapists and developmental specialists. We are also forever thankful for all the support from our family and friends; we know we couldn't get through this with out them. Evie has an incredible team behind her that continues to amaze me with the love and support that they show her. She has continued to develop on “Evie time” and has progressed so much this past year it is truly amazing to look back and see how far she has come. Don’t get me wrong, there have been a few setbacks, but we learn from these and she overcomes them with grace and determination. We face these challenges together as a family head on and Evie’s resilience is like no other. In the community, we have been able to watch our HADDS family grow and now have this amazing Foundation and conferences that we cannot wait to be more involved with in the future.
Now looking back receiving the diagnosis was a true blessing as scary as those first couple months were. We have been able to meet people we would never had the opportunity to meet and together we get to watch our children grow up knowing we are not alone on this journey. I love our little HADDS family and look forward to the future we can create for our children.
Below is a list of tips I stumbled upon during one of the many sleepless nights that helped me get through the uncertainty of receiving a special needs diagnosis. I hope it can help someone as much as it helped us.
Take a deep breath. Your child is the same beautiful individual he/she was before receiving the diagnosis.
Take care of yourself so that you can take care of your child.
Avoid playing the "blame game." Your child’s disability is not your fault.
Early intervention can make a tremendous difference, so be proactive
Educate yourself so you can better advocate for your child. Other parents, medical professionals, libraries and the internet offer a wealth of information.
Join a support group or talk with other parents of children with special needs.
Ask for help from friends and family. The sooner you surround yourself with a support system, the stronger you will be.
Don't let your child’s diagnosis frighten you. Sometimes labels are necessary in order to obtain necessary funding from the school district/county/state.
Don't be intimidated by medical jargon. If professionals are using terminology that is unfamiliar to you, ask them to explain. Get the spelling of terms that you want to research on your own.
Have confidence in your opinions and rely on your instincts. You know what’s best for your child.
Recognize both the positives and negatives. Parents of typical children also experience difficulties and obstacles. Appreciate the good moments and gather strength from them so you are better able to cope with difficult times.