The Medical Journey of Rare Disease

On October 30th 2016, after a full term, healthy pregnancy, we welcomed our precious Baby Boy Braxton into this world!  Our excitement over the birth of our newborn baby would quickly diminish, being replaced with constant worry and fear, as immediately after birth Braxton began showing adverse neurological signs and with many other health complications.

We would soon learn that the first few months with our newborn would be spent in Nationwide Children’s NICU. We watched Nationwide’s NICU nurses become miracle workers as they provided compassionate care to our newborn baby.

Shortly after we celebrated our NICU discharge Braxton began showing signs and symptoms that continued to worsen in severity, leading to many hospitalizations at Nationwide. Braxton required a permanent feeding tube and we would quickly witness our first seizure.

We began working closely with the Neurology Department, and we were able to receive care at a level-four epilepsy program where we have always received the highest of epilepsy care. Braxton is still followed in the Neurology Clinic and has participated in one of their research initiatives to improve treatment options for hard to treat seizure disorders.

As parents, we will forever be grateful for Nationwide’s urgency to compete high end genetic testing. With the help of NCH’s genetic department, our Whole Exome Sequencing results revealed that both dad and I passed our son a non working UBA5 gene, leading to very rare, progressive genetic condition that has caused him to develop Early Infantile Epileptic Encephalopathy Type 44.

His genetic condition is degenerative and expected to progress in time. In Braxton’s short two years of life, he has faced many health battles as we continue to work effortlessly to manage underlying diagnosis and symptoms that are in result of his genetic condition.

As a two year old little boy, Braxton has faced many challenges with unbelievable odds and continues to beat them all.  Despite the difficult and often trying journey, we strive to always enjoy the son God blessed us with while keeping our Faith in the future. We simply would be unable to do so without Nationwide Children’s dedication and expertise. Our family would like to thank the doctors, nurses, and other medical professionals that have collectively made our experience successful so we can continue to fight the daily battle of rare disease.

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https://flutter.nationwidechildrens.org/wp-content/uploads/2018/10/41863491_10155666662920423_2000491583455100928_n.jpg

On October 30th 2016, after a full term, healthy pregnancy, we welcomed our precious Baby Boy Braxton into this world!  Our excitement over the birth of our newborn baby would quickly diminish, being replaced with constant worry and fear, as immediately after birth Braxton began showing adverse neurological signs and with many other health complications.

We would soon learn that the first few months with our newborn would be spent in Nationwide Children’s NICU. We watched Nationwide’s NICU nurses become miracle workers as they provided compassionate care to our newborn baby.

Shortly after we celebrated our NICU discharge Braxton began showing signs and symptoms that continued to worsen in severity, leading to many hospitalizations at Nationwide. Braxton required a permanent feeding tube and we would quickly witness our first seizure.

We began working closely with the Neurology Department, and we were able to receive care at a level-four epilepsy program where we have always received the highest of epilepsy care. Braxton is still followed in the Neurology Clinic and has participated in one of their research initiatives to improve treatment options for hard to treat seizure disorders.

As parents, we will forever be grateful for Nationwide’s urgency to compete high end genetic testing. With the help of NCH’s genetic department, our Whole Exome Sequencing results revealed that both dad and I passed our son a non working UBA5 gene, leading to very rare, progressive genetic condition that has caused him to develop Early Infantile Epileptic Encephalopathy Type 44.

His genetic condition is degenerative and expected to progress in time. In Braxton’s short two years of life, he has faced many health battles as we continue to work effortlessly to manage underlying diagnosis and symptoms that are in result of his genetic condition.

As a two year old little boy, Braxton has faced many challenges with unbelievable odds and continues to beat them all.  Despite the difficult and often trying journey, we strive to always enjoy the son God blessed us with while keeping our Faith in the future. We simply would be unable to do so without Nationwide Children’s dedication and expertise. Our family would like to thank the doctors, nurses, and other medical professionals that have collectively made our experience successful so we can continue to fight the daily battle of rare disease.

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