My name is Angela and I am married with two children ages 2-1/2 and 6 months. Our journey through serious medical uncertainty started when I got pregnant with my 2-1/2 year old son, Azariah.

From the onset of my pregnancy things became complicated. At my antimony scan they found that my son, Azariah was on the small side. He had extra nuchal fluid in the back of his neck which suggested he may have some form of Trisomy. That is when we were told many would abort the “fetus” at this point. We were advised to seriously consider that. We did genetic blood work but refused an amniocentesis because it wouldn’t change anything. We were keeping our precious baby no matter what. Blood work did come back with an extremely high chance that our son would be born with Trisomy or other chromosome abnormalities.

Our lives were shattered but we held onto hope. From then on I was followed by Material Fetal Medicine. Throughout my pregnancy there were many scares of premature delivery, but Azariah was born at 35 weeks. He was alive!

Shortly after he was born they noticed his heart rate was abnormal. Several hours after being born he would not eat, could not regulate his temperature, and his heart rate continued to be abnormal. He started turning blue around his mouth and this is when they suspected Asphyxia and took him to the NICU. And so began our journey of uncertainty, chaos, and confusion.

Azariah was placed on oxygen and a feeding tube. They found on an EKG that his QT interval was extremely prolonged. Genetic testing was already sent off but in the mean time they immediately started him on two medications, Mexiletine and Propranolol. They went through our family history trying to pin point if anyone in our families could have had Long QT Syndrome. Nothing in our family suggested it. Both I and my husbands EKG came back normal (and later on so did our genetic testing). While we awaited the results of genetic testing we were told that Azariah had Microcephaly (a small undeveloped brain), Hydroneprosis, and that he was deaf. They also found he had a PDA & PFO.

When all his test results came back we had a family meeting with all the doctors and specialists following Azariah. Azariah has several very rare chromosome deletions which are 7q34-q36.3 , 8q21.3, 8q24.2-q24.23. They went on to explain what these missing chromosomes meant for Azariah’s health and development: Moderate to severe mental retardation, epilepsy, feeding issues, hearing loss, kidney issues, eye abnormalities, brain abnormalities, and Long QT Syndrome, to name a few.

After a month in the NICU, Azariah finally came home with a feeding tube and a heart monitor. One of the things that always worried me the most was his Long QT Syndrome. Azariah was born with type 2 LQTS which he did not inherit from anyone in either mine or my husbands family. It was solely caused by his missing 7th chromosome in which his KCNH2 gene was affected. We were told upon being discharged from the NICU that until we see how his prolonged qt will affect him, we should be extra careful to not startle Azariah with sudden sounds like an alarm or a phone ringing because that could trigger a deadly arrhythmia. With Azariah being born with profound hearing loss this wasn’t as hard of a task as we thought it would be but to know that a loud sound could potentially take our baby’s life was terrifying! Azariah’s LQTS has affected our family in so many ways. It started out as living with so much uncertainty as if we were waiting for “the other shoe to drop” watching him carefully and frankly just being scared we will loose our precious boy from this condition. We have committed our lives to doing all we can to keep Azariah healthy and give him every opportunity to thrive. This meant putting our fears aside, continue research on his many medical conditions, as well as provide every resource to help him develop the best he could.

Fast forward to today. It has been hard having a child who has a heart condition and several other health issues along with severe developmental delays. Azariah has been through a lot but at almost 3 years old he has thankfully not had any serious cardiac events related to his LQTS. He is developing so much more than the doctors ever expected him to and he is just pure love! Going forward Azariah’s EP said that he will likely place a pacemaker in Azariah when he is a bit older. However, currently he is stable on his beta blocker.

Our precious son will LIVE with Long QT Syndrome the rest of his life so we must always be cautious and know possible triggers but we also want Azariah to be able to walk, run and experience life to the fullest. So we take nothing for granted and we tread ahead in this LQTS and Rare Chromosome journey.