Siblings born with rare, life-threatening disorder offer hope for others
The moment your child is diagnosed with a rare syndrome, your world changes.
You’re forced to reimagine their life. You adjust and adapt. Develop a new vocabulary of medical terminology. You might have to learn how to operate equipment and never leave home without it again. You advocate. You put on a brave face while holding back tears. You schedule countless appointments with specialists. You lose sleep. You research. You hope.
You do the best you can.
My son Robbie and daughter Josie were both born with congenital central hypoventilation syndrome (CCHS), a rare life-threatening disorder that affects the body’s ability to perform automatic functions like breathing. CCHS is incredibly rare – there are an estimated 1,200 diagnoses worldwide. Most cases are caused by a spontaneous gene mutation, but in some cases, it can be inherited. Left untreated, CCHS can be fatal.
Josie was diagnosed with CCHS at 3 months old, and through her diagnosis, we discovered Robbie also has CCHS. He was almost 3. We fully believe their pulmonologist, Dr. Shimoni Dharia, saved their lives.
Josie was born five weeks premature. At birth, she experienced periods of respiratory distress and spent six weeks in the NICU. Her issues were thought to be caused by central apnea due to prematurity. We brought her home on supplemental oxygen and were told she would outgrow the apnea episodes.
After two weeks at home, Josie’s health took an alarming nose dive. She was admitted to the pediatric intensive care unit and intubated due to dangerous CO2 levels. The root issue was still unknown.
Thankfully, Dr. Dharia assessed Josie and suspected CCHS. Test results confirmed her diagnosis, and she immediately underwent a tracheostomy so she could be ventilated around the clock. She needed to be sedated seven days post operatively, so a g-tube was also placed for feeding. Her long road of relying on machines for her body to perform basic needs began.
We spent three months in the PICU followed by seven weeks at a transition facility. My husband and I took turns sleeping at the hospital while the other was home with Robbie. When we were finally all under one roof, it was such a blessing and one that we knew we would never take for granted.
Our family underwent genetic testing to get data about Josie’s mutation. The mutation was detected in my husband and in Robbie. Further testing showed my husband is an asymptomatic carrier of the gene, but Robbie was symptomatic and officially diagnosed with CCHS. He immediately began sleeping with a bi-pap machine. A person with CCHS needs lifelong medical ventilation while sleeping.
Not many adults can say that a 6 and 8 year old are their heroes, but watching how strong and resilient they are gives me an immeasurable sense of pride. CCHS does not hold them back, even if the road is a little bumpy. We are determined to give our children the best lives possible and never let CCHS define or limit them. Robbie plays four sports, and Josie is a competitive dancer. She learned to crawl and walk while attached to a ventilator and needed years of physical, occupational, speech and feeding therapy but has no developmental delays.
When you first hear the words, “your child has ____,” it feels like you were pushed into the deep end of the pool and don’t know how to swim. After the diagnosis sinks in, you realize there are people who can and will support you. They are your floaties. Your life raft. Cling to them. Until you learn how to tread water and eventually swim, you can’t do it alone – and you don’t have to.
We have so many people in our lives we consider part of our extended family, from nurses to therapists to other people on the medical team. We don’t know what we would have done without Dr. Dharia and her staff, Dr. Sherman and his staff, Josie’s therapists, the PICU and NICU nurses who went so far above the call of duty to give Josie the best care.
Josie has made huge strides since her diagnosis. She went from being ventilated 24 hours a day to only needing it while sleeping. Because she was reliant on tube feeds, she had to work hard to learn to eat and drink by mouth.
Both Robbie and Josie see specialists every year, as people with CCHS are predisposed to other medical conditions like neuroblastoma, vision problems and heart arrhythmia. We try to take things one appointment at a time.
So many people have never heard of CCHS. We do our part to raise awareness and funding. Every year, I run the Chicago Marathon and fundraise for an organization called CCHS Network. Their main mission is to fund critically needed research. In 2020, when the Chicago Marathon was cancelled due to the pandemic, I made a 26.2 mile course through my hometown. We have raised nearly $50,000 through these efforts.
My kids have taught me more than I will ever be able to teach them. Together we navigate a road that at first seemed terrifying. We’ve learned to never take anything for granted. Children with medical conditions need special care because they are just that – special.
Laura Brown is the mother of Robbie and Josie, Advocate Children’s Hospital patients.
