Hall was born in San Francisco in 2011 at full term as a healthy baby boy. His Apgar score was 8 and everything was seemingly normal with Hall- he nursed well and was very sweet. As our first child, we proudly attempted to do all the things we had done as a couple with Hall in tow. We traveled with him, took him to restaurants and were very much enamored with him. We had nothing to compare our experience to so everything about Hall seemed “normal” and perfect to us.
The first indication that something was different with Hall occurred when he went in for his 6-month checkup and his pediatrician advised us that he was not achieving his milestones according to the normal schedule. While his height and weight were progressing normally, his core strength was weak and he could not sit up on his own at 6 months old. We just figured he would develop on his own schedule and that more tummy time would strengthen his muscles.
At 7-months old, things took a sharp turn south for Hall. One night when we brought Hall home from daycare, he vomited his dinner and spit up his breakfast the next morning, too. The doctor told us he probably had a stomach bug. After several visits to the doctor and reaching the point of feeding him small amounts of milk via a syringe, we took him to Emergency Room where the doctors told us that Hall had a textbook case of intussusception and that they were surprised he was not screaming for the 9-day period as the condition is supposed to be incredibly painful. Intussusception is a rare and fatal condition where the small and large intestine “telescope” into each other and cause a blockage preventing any food from passing through the digestive system. Hall’s subdued response was another clue that he was especially different from other babies. By the grace of God and the unbelievable skill of the medical team and surgeon, Hall’s surgery was a success and he slowly began to regain his appetite and strength over the next few weeks. The whole experience was horrifying, but we were elated that he survived.
Given the significance of Hall’s ordeal with intussusception, he was regularly seen by the surgeon and his pediatrician to check on his progress. The doctors continued to express concern about his lack of progress in achieving developmental milestones. We attributed his continued delays to the invasive nature of the surgery to his abdomen and believed that his core strength would strengthen over time. Hall was often sick with colds during this time and had a persistent cough and ear infections that wouldn’t go away.
Just before Hall’s first birthday, he had ear tube surgery and a week later he stopped breathing and seemed to choke 45 minutes after an early morning bottle feeding. His face marbled and his lips turned blue before his body went rigid. We had no idea what was happening. A hysterical 911 call was placed and Hall was rushed to the emergency room in an ambulance. He was admitted, evaluated and discharged after about 6 hours. Later that night, the same situation occurred and a second 911 call and ambulance ride to the ER occurred. This time Hall was admitted to the hospital for observation during which a third incident occurred for almost 9 minutes and we realized these were seizures. Hall started Keppra which seemed to control any more seizures from happening, but he was still significantly behind in his gross motor development and exhibited significant Hypotonia, which prevented him from sitting upright without assistance. He would often lose his balance after a few seconds of sitting up and tip over, bumping his head on the floor. He started walking late at about 18 months and was extremely clumsy and would often fall into things and bump his head. We kept hoping that he was just slow to develop and would eventually catch up. We naively thought that the seizures could be an anomaly given his recent medical history and fragile age.
Hall continued to fall further and further behind over time and we visited different specialists in an attempt to get to the root cause of his developmental delays and therapists to help him gain skills. Hall made slow progress in his development, but it lagged significantly behind his peers in early-intervention programs.
It wasn’t until we returned to the geneticist, for a subsequent visit and test that Hall’s condition was finally determined after he turned 2-years old. The geneticist suggested that we get a full genetic sequence map of Hall’s genome to identify any variants. When the results came back, they revealed that Hall had a KCNB1 mutation. Hall’s diagnostic odyssey took 2.5 years and we were so grateful to know the cause of his developmental delays and finally pinpoint what was going on.
Over his past six years, Hall has continued to make progress developmentally, but remains significantly behind children of a similar age. We’ve been advised to be prepared that Hall may never be able to speak, a very difficult thing for a parent to hear about their child. Some days he is able to run and jump. Other days, he can barely walk. Hall’s seizures were well controlled up until his last birthday.
Hall now has a sister Rowe, who was born when he was four-and-a-half. Their interactions are adorable to watch and warm our hearts. We hope that they will be positive influences to one another throughout their lives.
Despite Hall’s challenges and inability to communicate verbally, there are no words to describe our love for this sweet boy. He is pure innocence and is very gentle and kind. We have empathy for others in a way that we didn’t learn before becoming parents and we see the world through a completely different lens. He has taught us more about life, love and what is truly important- love and relationships with family, friends and strangers. We will continue to pray for Hall’s ability to gain skills, maintain a good quality of life and stay happy with the support of all those around our family. Hall and his sister are gifts and we feel privileged to be their parents.
The first indication that something was different with Hall occurred when he went in for his 6-month checkup and his pediatrician advised us that he was not achieving his milestones according to the normal schedule. While his height and weight were progressing normally, his core strength was weak and he could not sit up on his own at 6 months old. We just figured he would develop on his own schedule and that more tummy time would strengthen his muscles.
At 7-months old, things took a sharp turn south for Hall. One night when we brought Hall home from daycare, he vomited his dinner and spit up his breakfast the next morning, too. The doctor told us he probably had a stomach bug. After several visits to the doctor and reaching the point of feeding him small amounts of milk via a syringe, we took him to Emergency Room where the doctors told us that Hall had a textbook case of intussusception and that they were surprised he was not screaming for the 9-day period as the condition is supposed to be incredibly painful. Intussusception is a rare and fatal condition where the small and large intestine “telescope” into each other and cause a blockage preventing any food from passing through the digestive system. Hall’s subdued response was another clue that he was especially different from other babies. By the grace of God and the unbelievable skill of the medical team and surgeon, Hall’s surgery was a success and he slowly began to regain his appetite and strength over the next few weeks. The whole experience was horrifying, but we were elated that he survived.
Given the significance of Hall’s ordeal with intussusception, he was regularly seen by the surgeon and his pediatrician to check on his progress. The doctors continued to express concern about his lack of progress in achieving developmental milestones. We attributed his continued delays to the invasive nature of the surgery to his abdomen and believed that his core strength would strengthen over time. Hall was often sick with colds during this time and had a persistent cough and ear infections that wouldn’t go away.
Just before Hall’s first birthday, he had ear tube surgery and a week later he stopped breathing and seemed to choke 45 minutes after an early morning bottle feeding. His face marbled and his lips turned blue before his body went rigid. We had no idea what was happening. A hysterical 911 call was placed and Hall was rushed to the emergency room in an ambulance. He was admitted, evaluated and discharged after about 6 hours. Later that night, the same situation occurred and a second 911 call and ambulance ride to the ER occurred. This time Hall was admitted to the hospital for observation during which a third incident occurred for almost 9 minutes and we realized these were seizures. Hall started Keppra which seemed to control any more seizures from happening, but he was still significantly behind in his gross motor development and exhibited significant Hypotonia, which prevented him from sitting upright without assistance. He would often lose his balance after a few seconds of sitting up and tip over, bumping his head on the floor. He started walking late at about 18 months and was extremely clumsy and would often fall into things and bump his head. We kept hoping that he was just slow to develop and would eventually catch up. We naively thought that the seizures could be an anomaly given his recent medical history and fragile age.
Hall continued to fall further and further behind over time and we visited different specialists in an attempt to get to the root cause of his developmental delays and therapists to help him gain skills. Hall made slow progress in his development, but it lagged significantly behind his peers in early-intervention programs.
It wasn’t until we returned to the geneticist, for a subsequent visit and test that Hall’s condition was finally determined after he turned 2-years old. The geneticist suggested that we get a full genetic sequence map of Hall’s genome to identify any variants. When the results came back, they revealed that Hall had a KCNB1 mutation. Hall’s diagnostic odyssey took 2.5 years and we were so grateful to know the cause of his developmental delays and finally pinpoint what was going on.
Over his past six years, Hall has continued to make progress developmentally, but remains significantly behind children of a similar age. We’ve been advised to be prepared that Hall may never be able to speak, a very difficult thing for a parent to hear about their child. Some days he is able to run and jump. Other days, he can barely walk. Hall’s seizures were well controlled up until his last birthday.
Hall now has a sister Rowe, who was born when he was four-and-a-half. Their interactions are adorable to watch and warm our hearts. We hope that they will be positive influences to one another throughout their lives.
Despite Hall’s challenges and inability to communicate verbally, there are no words to describe our love for this sweet boy. He is pure innocence and is very gentle and kind. We have empathy for others in a way that we didn’t learn before becoming parents and we see the world through a completely different lens. He has taught us more about life, love and what is truly important- love and relationships with family, friends and strangers. We will continue to pray for Hall’s ability to gain skills, maintain a good quality of life and stay happy with the support of all those around our family. Hall and his sister are gifts and we feel privileged to be their parents.