With bright eyes and an infectious smile, the Martines welcomed a new addition into the family with little knowledge of the journey on which they were about to embark.
A seven-month pregnant and joyful psych and mental health nurse, Becky Martine was asked at a nursing conference seminar in 2012 to turn to the person next to her and share the hardest thing that happened in her life, not ever knowing the mother of two healthy boys, Cole and Alec, along with her husband, Chris, would soon lose the life they had once known in just a few more months.
“I had to turn to this woman and share the hardest thing that has ever happened in my life. I was pregnant with Luke, perfect pregnancy, and I was like … I have had a pretty easy life, I really don’t know. So now looking back, if someone at that point would have said in a couple months you’re going to have this child with this chronic genetic syndrome and have nurses in your house 16 hours a day and he is going to have a trach, I would have said that there was no way I could have handled that,” Becky said.
The Martines anticipated the arrival of a baby boy in the spring of 2012, and when the day finally came, Becky was rushed to Virtua hospital to give birth to a blue-eyed baby boy named Luke. With bright eyes and an infectious smile, the Martines welcomed a new addition into the family with little knowledge of the journey on which they were about to embark.
Despite the excitement of the new birth, it wasn’t long before nurses and doctors noticed something alarming. Medical professionals noted that his oxygen levels were low and his coloring was mildly grey, which prompted them to intubate him.
The Martines also observed that Luke’s oxygen levels would drop when he would fall asleep; however, the medical staff were unable to figure out the cause of the fluctuating oxygen levels, according to Becky.
After five days of monitoring Luke’s vitals, Virtua transferred Luke to Children’s Hospital of Philadelphia for further testing. After three agonizing weeks of medical testing, both Chris and Becky were given the shocking news that their son would forever be living with a life-threatening and rare disease, Congenital Central Hypoventilation Syndrome, a disorder that affects respiratory control and autonomic nervous system regulation, primarily during sleep.
“It was like a puncturing of the bubble that we lived in, that was our world of normalcy,” Chris explained.
CCHS is caused by a gene mutation that may be inherited from a parent but is unlikley and not the case in Luke’s situation. In fact, more than 90 percent of cases are caused by a new mutation, according to the U.S Department of Health and Human Services. Affecting an estimated 1,000 to 1,200 individuals worldwide, CCHS is not only rare but comes in varied degrees of severity, with Luke being on the mild end of the spectrum, according to Becky.
Luke spent 10 weeks at CHOP. At 1-month-old, Luke received a tracheostomy, a procedure where a tube is inserted through a small hole in the front of the neck to the trachea that would allow him to breath more easily.
Left in a state of confusion and heartbreak, the Martine family relied on an unexpected friend to help navigate them through this experience.
Dr. Patrick McMahon, who at the time was a pediatric dermatologist fellow at CHOP, offered to help support the family emotionally and served as a life vest in what felt like a sinking ship at the time. Having only met the Martines twice before through Chris’ brother, when notified of Luke’s arrival to CHOP, McMahon was the first one in the waiting room of the NICU.
“Becky was crying immediately, and I was like, ‘it’s going to be OK,’ even though I didn’t know for sure if that was true,” McMahon said.
Now a next-door neighbor to the Martines, McMahon helped the family cope with Luke’s condition by visiting daily and being an emotional support for the family throughout the duration of Luke’s stay at CHOP and every day since.
“So we would tell stories as if we were around a campfire but we were actually just kind of getting through it together. For me, it was also so eye-opening to be on the patient’s side,” McMahon recalled.
Since Luke’s admission to CHOP, McMahon has never left their side and remains a close friend today. Luke refers to him as “Uncle Pat.”
Today, when 5-year-old Luke is not playing baseball and swimming, he can be found with his two best friends — his cousin Johnny and McMahon’s son Collin, with Luke referring to them as the “three amigos.” Although he still has his trache, he anticipates exchanging it for a ventilation mask in the spring, according to the family.
“I don’t think he realizes that he has a trach and no one else does,” Becky joked.
As Luke gets older, he will be able to enjoy life as anyone else would, with the exception of making sure he is hooked up to his ventilator before going to bed to ensure his safety.
“We are just fighting for him to have a normal life, which means him going off to college … but the day he walks out of the door is the day that I am most scared because right now I can control it,” Becky said.
Becky wears various hats, including being a co-chair of the CCHS foundation, a national foundation geared toward spreading awareness and raising funds. The organization’s annual goal is $150,000. The Martines host annual fundraisers on national CCHS day, the second Saturday of November, with unique themes to help meet their fundraising objectives.
The 2016 CCHS fundraiser was a comedy show featuring Joe Matarese, an “America’s Got Talent” star, which raised more than $38,000. This year’s fundraiser was “Making Magic” for CCHS, which raised even more money, $47,700. On next year’s agenda, a fundraiser will be held on Nov. 24.
Seventy percent of proceeds go to research, 20 percent goes to educational initiatives and support of the CCHS Family Network, and 10 percent is allocated to CCHS family support through the Ellen Whisman Fund.
Those interested in learning more about CCHS can go to cchsnetwork.org or donate at cchsnetwork.org/get-involved/donate/ and help individuals such as Luke share their story and possibly provide medical advancements for CCHS.
