“When my daughter Emma was born, she weighed four pounds and fourteen ounces. It felt like a very normal, easy pregnancy. I had absolutely zero morning sickness and hardly craved anything at all. Shortly after Emma was born, we were informed she had a heart murmur, but were told not to worry. It would ‘dissipate on its own’ and she would be just fine. Her low birth weight was also dismissed. Little did we know, low birth weight and heart complications are the very first signs. She was kept in the NICU for five long days. We were so excited to bring our baby girl home once her doctor gave the okay!
Seven months later, what was supposed to be a normal check up for a mild cough, turned into a diagnosis that would change our lives forever. Our pediatrician mentioned she did hear a very loud heart murmur and she wanted it to be looked at further by specialists at Valley Children’s Hospital. In that moment, my mama heart knew something was just not right. The heart murmur that was going to dissipate on its own, did not. I trusted her initial medical team to make the right decision in deciding if further testing was needed, and they failed us.
Our referral checkup approached quickly and as much as I wanted to convince myself that nothing would be wrong, I had a gut-wrenching feeling. We weren’t leaving this place without a diagnosis.
On October 31st, 2017, an echocardiogram was performed on Emma, where it was discovered she has supravalvar aortic stenosis and stenosis of left and right pulmonary arteries. The cardiologist explained that this is a very common factor of a genetic disorder ‘Williams Syndrome,’ along with her abnormal starry blue eyes. We were informed to not jump to any conclusions until it was one hundred percent confirmed by a blood test.
Even though I was told not to jump to any conclusions, I immediately started researching what this Williams Syndrome was. I started comparing photos of babies with confirmed Williams Syndrome to my baby and it didn’t quite match, but there were still medical factors in the way that could confirm this diagnosis. I researched about this syndrome all night long. I read diagnosis stories. I read about the tight-knit community that has been formed around this and advice from mothers whose children did in fact have Williams Syndrome. In that moment, I knew I was ready for what was to come.
Whether she had this genetic disorder or not, we were still going to love her more and more every single day.
Diagnosis day came and I was ready for everything they could possibly tell me. We were notified that Emma did in fact have Williams syndrome; she is missing half of chromosome 7. These missing genes included the gene that codes for protein elastin. This helps our bodies grow and stretch. In that moment I began to cry, not in fear, but in a sign of relief that we had an answer. Doctors predicted that Emma would need open heart surgery by the time she was two years old to correct the narrowing areas in her heart. However, her cardiologist was comfortable enough with giving her a little more time to grow. By the grace of our lord, she has continued to grow in all the right directions and her open heart surgery has been put on hold. We have regular EKGs and echo-cardiograms every few weeks to continue monitoring her heart.
Williams Syndrome (WS) effects every 1 in 10,000 individuals per year, about twenty to thirty thousand people in the United States. This deletion is very spontaneous. Children who are diagnosed with WS are the only ones to have this condition in their entire extended family and have a fifty percent chance of passing it down to their own children. Most young children with Williams syndrome are described as having similar facial features. Most people with Williams syndrome will have mild to severe learning differences and cognitive challenges. Young children with Williams syndrome often experience developmental delays. Milestones such as walking, talking, and toilet training are often achieved somewhat later than is considered normal. Distractibility is a common problem in mid-childhood, which can improve as the children get older.
Emma is now two and a half years old; she is so beautiful, spunky, and loving. She has a tremendous love for all things Mickey Mouse and music. Disneyland is her absolute favorite place! I catch myself staring at her every single chance I get. She is simply so amazing and we are so lucky to have her in our lives. I cannot imagine life any different. We have met so many families through our diagnosis and have been given the chance to create so many new friendships. We are in this, together.”
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This story was submitted to Love What Matters by Makayla Gonzalez of Fresno, California. You can follow her journey on Instagram. Submit your story here, and be sure to subscribe to our free email newsletter for our best stories.
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