My beautiful son was diagnosed days before his first birthday with a rare genetic condition called Williams Syndrome. Most parents would have been devastated by the diagnosis, but I have to admit I was relieved and if truth be told my husband was too…
We knew from day one that our little guy was different for lack of better words. We struggled from the beginning with feeding and were constantly dismissed or his issues were always explained by what they call the NORMAL of the abnormal, even after we were hospitalized three days after I went home from giving birth. What should have been a joyous time of bonding as a family was a nightmare. Trying to explain the constant crying and struggling to nurse to his 16 month old sister was no easy feat.
The day of his 3 month check-up I was determined to get some answers. As a parent I think you just know something is off… Little did I know before I could even ask a question the doc had a funny look on her face while performing her routine check of listening to his heart. She furrowed her brow and said “I think I hear a heart murmur, but don’t be worried! I am sure it is NORMAL because a lot of kids have murmurs. But, just to be safe we will set up an echo at the local hospital.” I think at that point the wind had been sucked out of me and I had forgotten anything I wanted to ask.
During his exam it was determined that is was “NORMAL” and all should continue to develop properly over time. There was that word again…. NORMAL. Really????? What about any of this is NORMAL? The pediatrician assured us the results would also be read by a pediatric cardiologist at Riley Hospital for Children. If follow-up were needed we would know over the next week.
Then we got the call… The echo needed to be repeated because there were areas of the heart the tech didn’t cover. So of course, we were scheduled again and again the test was NORMAL. Again we were dismissed and told not to worry he would eventually catch up in size, figure out how to eat, and the murmur would dissipate.
We struggled through the next few months trying to convince ourselves everything was NORMAL. The eve of his 6 month well-check I remember lying on the floor staring at him and knowing in my heart that we needed help. As my husband sat next to me, I expressed the concern out loud. He agreed and the words he spoke after that will stay with me forever… He said, “yes, I agree something is different and I feel we need to push the doc harder. But at the end of the day he is our son and if he has to live with us forever, he lives with us forever and I will love him more because of it.” I honestly fell in love with my husband a little more that evening for his sincere words.
During his appointment the next day the heart murmur was still there, louder than the last time, and we also found out the echo tech did the same exam as the last and changed nothing even after the Riley Cardiologist had asked to see different views. Of course… we were sent into a tail spin again. We were referred directly to Riley at that point, but were triaged because we were considered non-urgent and it took another 5 1/2 months to get an appointment.
Stayed tuned for diagnosis day which I refer to as “D-Day”….
Painting Butterflies 