A Rare Disease Leads a Mom and Dad to Find Answers for Their Son's Complex Care

Jordan's arrival in July 2015 was a moment of pure joy for our family. His birth was eagerly anticipated, however, our initial happiness was quickly tempered when he required a stay in the NICU to clear fluid from his lungs. Despite this challenging start, Jordan showed incredible strength and resilience. Little did we know, this was just the beginning of a long and arduous journey.

Early Milestones and Growing Concerns

Jordan's first year was filled with the typical joys of infancy – giggles, milestones, and the excitement of watching him grow. While he experienced a few respiratory infections, he appeared to be thriving. However, after his first birthday, we noticed his developmental milestones slowed, and we found ourselves celebrating smaller achievements. Despite reassurances that children develop at their own pace, our parental instincts told us something was amiss.

Searching for Answers and Navigating the Medical Maze

Driven by our concerns, we pursued early intervention services, including physical, occupational, speech, and developmental therapy. While Jordan made progress, it wasn't the same effortless advancement we had seen with our older daughter. As Jordan approached his second birthday, we knew we needed to seek further answers.

Our journey to uncover the truth led us through a maze of medical appointments and tests. We consulted with pediatricians, neurologists, and endocrinologists, undergoing MRIs, EEGs, microarray analysis, metabolic workups, and genetic testing. Each test came back relatively normal, leaving us with more questions than answers. The phrase "normal male chromosome" should have been reassuring, but it only amplified our fear that something was being overlooked.

The Breakthrough: DNA Test and TECPR2 Diagnosis

Desperate for answers, we sought the expertise of a neurogeneticist, who recommended whole exome sequencing. This in-depth analysis of Jordan's DNA finally revealed the truth. In September 2019, at the age of four, Jordan was diagnosed with TECPR2, a rare and fatal neurodegenerative disease.

While the diagnosis was heartbreaking, we knew we couldn't give up. Jordan needed expert medical care and a team to support him. This led us to Joe DiMaggio Children's Hospital and, most importantly, Amanda Porro, MD, and the Complex Care team.

Caring for a Child with Complex Medical Needs

Jordan's condition affects nearly every aspect of his health, including:

• weak muscle tone (hypotonia),
• developmental and intellectual disabilities,
• autism,
• impaired speech and swallowing,
• gastrointestinal pain,
• motor impairments,
• weak or absent muscle reflexes (hyporeflexia),
• and severe central and obstructive apnea.

He requires constant monitoring, medical testing, and specialized care. Dr. Porro serves as our "quarterback," leading a team of specialists and ensuring that Jordan's care is both comprehensive and compassionate. Our journey with Jordan has been filled with challenges, but it has also been a testament to love, resilience, and the power of expert care. We are grateful for the support of Joe DiMaggio Children's Hospital.

While we face an uncertain future, we remain committed to providing Jordan with the best possible quality of life. Through our foundation, Saving Jordan, we advocate for research, support other families facing similar diagnoses, and work toward a future with better outcomes for children like Jordan.

Learn more about how the Complex Care Program at Joe DiMaggio Children's Hospital can support your child.