About Us
Welcoming Ruby
Grace was three years old when she started asking, almost daily, for a little sister. We finally decided it was the right time for our family and we were confirmed as pregnant in May 2015. At 12 weeks pregnant, we were told our baby did not have a a heart beat and had actually stopped growing around 7 weeks along. After a very emotionally painful DNC in August, I healed physically, and decided to trust that what was meant to be,would be. We continued to try to get pregnant and got a confirmed pregnancy in December 2015! It was the PERFECT Christmas present for Grace.
Our sweet Ruby was born on August 4th, 2016. My pregnancy had been tougher than the average, with fatigue and hyperemesis gravidarum. Other than that, Ruby was reported to be growing as expected and was healthy on all exams and tests. My labor was uneventful and as expected. My delivery with Ruby was a little questionable (read our birth story). She came a week early and was born at about 2 lbs less than her sister. She was petite but seemed healthy at first. After exams by a pediatrician the day after she was born, we were told she had a heart murmur and high respirations.
At the time, a longer than normal stay in the hospital despite a typical delivery, seemed like nothing more than an inconvenience and added exhaustion. This was a window into our future and I was completey unaware of what the world had planned for my sweet Ruby. After a cardiologist confirmed a small VSD that shouldn't be a problem for Ruby, and the high respirations stabilized, we were reaeased! Having Ruby home to love on was a welcome change for our family!
The Diagnosis
When Ruby was 11 weeks old, we were at Disneyland, and we were standing by the Mark Twain River Boat. I remember seeing a mother with a very young baby who was reaching for a toy, smiling, and cooing. I looked at Ruby in her stroller. I knew something was wrong. Ruby never seemed to be interested in toys and she was much more quiet than the "normal" baby. She didn't cry when she was hungry or tired. I had just learned her physical cues without even noticing she wasn't crying. I kept this thought to myself but my mom asked me about an hour later if Ruby ever tries to reach for toys. We both noticed something was not quite right with Ruby's development, so now I had to face it.
Despite multiple attempts to discuss things like Ruby's eye straying to the side, or her lack of crying and lack of muscle tone with her pediatrician, we were told she was fine and that all kids "develop at their own pace". At 6 months old, Ruby was not able to hold her head up on her own and had a significant strabismus. Finally, the doctor gave in and referred us to a pediatric neurologist, and to physical therapy. I was still in denial. I thought Ruby was just a little behind and would be fine with some therapy.
Neurology, a physical rehab doctor, and genetics, were all completely confused by Ruby. I thought this meant that she would be okay because she didn't fit in any of these boxes. I never let myself consider Ruby might just have something so rare that nobody had seen it before.
After a neurologist said we could diagnose her with Cerebral Palsy, in order to continue getting help for her, a geneticist asked to test for Angelman Syndrome (a 6 week wait that came out negative), then a clinical exome test (another 6 week wait that came out negative). At this point I thought Ruby had no genetic issues, maybe it was CP! CP would mean she would have a chance at some independence in life. I could handle this and accept this as what my baby girl would endure. Then the geneticist offered a whole exome sequencing test. This test would check for mutations on ALL of Ruby's genes.
The 6 week wait for this test was not as painful because I had myself convinced Ruby had CP and she would have a fruitful life! That is why the phone call on March 23rd, 2018 hit me like a semi truck. When the doctor called, I pulled over to the side of the road and cheerfully answered.
She told me that they found a mutation on Ruby's DHX 30 Gene. She then told me that Ruby was only the 13th child in the WORLD, so information was limited. She was able to tell me that the other 12 children were not able to walk, talk, and had severe cognitive disabilities. My world stopped turning on the side of the road that day. It was on March 23rd, 2018 that I lost my child and all of the dreams I had for her. It was the start of a greiving process that I had no idea how to tackle.
Our Journey Ahead
After the diagnosis, I went to the internet. I only found what I was already emailed by the doctor. One very grim and depressing study that had no room for hope for Ruby.
I felt like I was standing alone and everyone was just living their lives around me. It didn't seem fair that the world kept spinning, that people kept living.
2 days in, I went to Facebook and googled DHX30. Thank God for this because I found a site with parents of other children with this diagnosis! I can still remember getting an email back from my now friend/sister in life, Heidi. I cried before I even read what she wrote because all of a sudden, I wasn't alone. Ruby wasn't alone.
Since then, I have learned a lot. I have learned a lot about genetics, science, biology, chemistry, medicine, funding, and what being a parent of a special needs child with a rare genetic disorder is like.
What stands out for me now as a turning point as I look back to March through August, is the education that a diagnosis like this is truly similar to processing the loss of your child. The grieving process is similar. You have to let go and accept a new reality. As soon as I let myself feel those emotions and start accepting the new reality of the role that Ruby would play in this world and in our family, the world became a little brighter than I thought it would ever be again.
Since March, there have been a good handful of children diagnosed with Ruby's disorder. Each child is so different but also so similar. The more we meet, the wider the range of abilities we see in these kiddos. This means that nobody knows what Ruby is capable of. As her parent, I will fight, every single day of my life, to ensure she is given every opportunity to thrive in this world and that she is as happy and fulfilled as she can be.