Age 4 | Chicago, IL
Within days of Emi’s birth, his parents, Sergio and Patti were forced to make tough realizations. He was born premature, at less than 30 weeks, and had ended up in the NICU, under constant supervision by a team of nurses and doctors. They were using the term “floppy” to describe the newborn, which was frightening and disconcerting.
“He was like a rag doll,” says Sergio. “You could hold him, and he had no muscle tone whatsoever.” The days in the NICU dragged on, and the stress was building. Myriads of possible conditions were being tossed around at the two unsuspecting parents. “You want to get out of there,” recalls Sergio. “But then we started thinking, okay we need those answers.” Eventually, it seemed that a muscle biopsy would be necessary to determine what was going on with Emi and what his chances were of survival.
The biopsy came back with conclusive results: Emi had been born with X-linked Myotubular Myopathy, or XLMTM, a severe neuromuscular condition that meant Emi might never leave the NICU. “I stopped breathing,” says Patti. “I don’t know how long. It seemed like forever… I felt like how did this happen to my son?” The feelings of shock and grief were soon complicated when Patti found out that she was not a carrier of the gene that caused the XLMTM. Emi’s genetics had underwent a mutation in utero.
Weathered and determined, Patti and Sergio decided that they were going to do everything they could to help their newborn son survive, and provide a good life for him. One of the toughest decisions was whether to give Emi a tracheostomy, a procedure that was being recommended by the doctors to help stabilize him, yet presented itself as invasive and all-too permanent. The family had been living in and out of the NICU for six months now, and Emi’s condition was not improving. He often would wake up in the morning energetic and full of life, but by the time the afternoon came around, he would need intensive medical assistance. He was being intubated and extubated constantly.
“I think it was at that point that we called [our doctor] and told him that we were ready to have him trached,” remembers Sergio. They held their breath again, but the next day, upon visiting Emi post-op, his parents were surprised to find him as vivacious as ever. “He was just full of energy,” says Sergio. “Swollen and what not, but happy.” With the tracheostomy completed, the family looked forward to the next milestone: taking Emi home. Perhaps he was ready for this transition, but Sergio and Patti had much to learn. A team of nurses scrupulously trained the couple on the various machines and processes that now defined their caretaking strategy as parents. And they weren’t being let off easily.
The couple struggled to learn all of the necessary methods, but slowly built the reserves that still bind them together today. “These situations can either bring you close or separate you,” reflects Sergio. He remembers telling Patti, “It is an ugly thing, this disease, but we cannot hate it so much, we have to work with it.”
Finally, eight months after his birth, Emi settled into life at his family’s Chicago home. Despite the relief of finally bringing their baby home, his parents found themselves consumed by the constant medical assistance Emi required, along with the task of trying to explain to the extended family what was going on at home. “I’m not exaggerating,” says Patti. “It was such an extreme…Someone sitting next to him every minute, every minute and a half. He wasn’t keeping food down. He would vomit a lot.” The couple seeked helped through nurses, who continue to give the family much needed support on a daily basis. “We are so thankful to them,” says Patti. “I mean, we wouldn’t be able to sleep, work, or shower even.”
Yet, even in this challenging milieu, the couple began to find meaning, love, and resolve which continues to this day. “Aside of all of the complexity that comes along with Emi, he has brought us joy,” says Patti. “He has really opened our eyes to life, not that we were living life so quickly, but he has really shown us how precious it is.”
With every unrestricted breath Emi takes, he has given Sergio and Patti more strength than they could’ve ever imagined, and he too is building a personality as a reflection of the love he has received. “He loves life, because he is so happy,” says Sergio. “He is a morning person too. He wakes up very happy. He has his routine down pat—he knows, he loves his environment, he loves coming back home too, he loves his bedroom—he has a lot of likes.”
“I think also he loves his space. He loves quiet,” says Patti. Emi can get overwhelmed easily by the presence of well-meaning family members like his nephew and niece. Visitors are stressful for his parents too, as they bring outside germs into the house. “Kids just aren’t really clean,” says Patti. “You can’t expect them to be tidy. You just hope for the best.” Overall, she sees Emi interacting with other kids as paramount to his development, despite the fears of a parent whose child has a severely compromised immune system.
Sergio places a huge importance on taking Emi outside despite the risks, which sometimes include difficult or negative experiences. “We try and give those experiences even though he can not get them right. If there are local carnivals, we take him to the carnival. He loves lights—he loves going to the planetarium; the museums—I think he enjoys it.” If things don’t work out and Emi succumbs to one of the many debilitating symptoms of XLMTM, his parents are well-equipped to handle the situation.
“That is why they are here, that is why there are in this world, to teach us, because we are focused on so many other things,” says Patti. Being a parent of a child with a rare genetic illness has come to define her and her husband’s place in the world. “There is definitely a lot of joy on top of all of the complexity and fear and the sadness that we hide.” As Emi grows, more questions and challenges are sure to arise for this new family, but they intend to take a deep breath, and hit them at full stride.