Zelda | March 10, 2018

When we found out we were having a baby, we were so, so excited. I prayed for a little girl. I had always dreamed about having a little girl with all the cute clothes and hair bows; playing dress up, doing each other's nails, and just having fun together. I got my little girl, but the universe had other plans.

I had a fairly normal pregnancy with well managed Type 1 diabetes. They decided they wanted to induce early due to low amniotic fluid and Zelda was born at 36 weeks. The delivery was rough. They ended up using a vacuum to help me deliver and she suffered skull fractures and brain bleeds due to this. She was in the NICU for two weeks. We were informed that due to her delivery complications she may be delayed. They said that most NICU babies are delayed. We went home and enjoyed having our little bundle of joy in our arms.

We noticed around the time of her 2 month doctor check up that she was missing milestones. She was not attempting to hold her head up, her hands were always slightly contracted, and she showed no interest in any toys, lights, or anything. I expressed my concerns to her pediatrician and they attributed it to her NICU stay. The same thing happened at her 3 month appointment. The same at her 4 month appointment. I finally expressed to the doctor that I would like to see a specialist to have her evaluated. They referred us to Early Intervention and Zelda started physical therapy that month.

Due to her skull fractures, her head was flat on one side. Around the same time we started physical therapy, she was evaluated for a cranial helmet to correct her head shape and she was also diagnosed with torticollis. She had a very tight muscle in her neck that kept her head turned to one side. She continued to wear the helmet until her first birthday.

We received a phone call not long after from a genetics team at the hospital where she was born. Due to the circumstances of her birth, they had conducted genetic testing. They ran one test that had taken 6 months to get the first set of results. They decided they wanted to try another, more in depth, test.

We continued on our therapy journey and around 9 months old, Zelda started occupational therapy. We had no idea what was going on with her sweet little body, but we were determined to make the best of our situation. We continued to treat her symptoms with no idea what the ultimate outcome would be.

Her genetics team contacted us again and told us that they wanted to try a third type of genetic testing since the first two tests were inconclusive. They sent us a kit and told us they were going to do a Whole Exome Sequencing test. This would hopefully give us some answers.

A few days before her second birthday, we got a phone call from her genetics team. They had a diagnosis for us! She was officially diagnosed with Baker-Gordon Syndrome and they wanted to set up an in person appointment immediately. We went to her appointment excited to hopefully get some answers. The appointment did not go as we had hoped.

We found out that very few people in the world have been diagnosed officially with this specific condition. There has not been much research done and we had a short list of symptoms that fit Zelda to a T. Since there was not much research done at that time, her genetics team did not have much information for us. They were not sure what would happen as far as her milestones as they were still severely delayed. They said there was a possibility she may never walk or talk. They advised us to continue to treat her symptoms and if we had any concerns we could reach back out to them.

Not long after this, Covid happened. The world shut down and we transitioned to virtual therapy appointments. Let’s just say that we now have huge respect for her therapists and everything they do. We were doing all of her therapy on telehealth, which meant dad and I were doing all the work.

Throughout all of this we were constantly looking for people in similar situations and trying to find some form of support. We had other families that we were in contact with, but none quite understood our circumstances due to the rarity of her condition. I decided to post a video on TikTok and use her diagnosis as a hashtag. Not long after the video was posted someone commented on it. Her boy had the same condition! I was ecstatic! Finally someone who understood! She invited us to the Facebook group and we have still been in contact to this day 3 years later! I'm so thankful for the support of that group! It’s nice to not be alone anymore.

Fast forward to now, Zelda now attends a school for special kids just like her. She loves going to school and has blossomed so much since she started. She still gets therapy at school and home. We recently got a Tobii Dynavox communication device and she is finding her “voice.” She uses a walker to assist her with walking, but she walks everyday. Us, her care team, and teachers are always impressed by how far she can walk every day. The progress she makes each day is incredible. Every “inch stone” is important to us. I love to tell people when the doctors told us she may never be able to walk, talk, or do certain things, she said “Watch this!”

I couldn’t ask for a better or happier little girl. She has the most beautiful smile. She is full of personality. Her face gives away exactly what she’s thinking. Our journey is not what we expected, but I wouldn’t trade it for the world.