From diagnosis to hope: Becoming Emma
The birth of a first child can be one of the most joyous moments in a person’s life. This was the case for Rebekah and Adam Lara, who live in Illinois. The introduction into parenthood was much like the stories portrayed in family comedies: delightful, with a hint of chaos. The birth of their daughter Emmalene, or “Emma,” was quite ordinary. By the time Emma was 2 years old, however, their lives would be anything but routine.
When Emma was a toddler, she began experiencing pain and fatigue in her legs. She was also growing at a slow pace, appeared to have digestive issues, and fell behind her peers when it came to gross motor skills. Her parents took her to physical therapy, but it did not help her leg pain and fatigue. It was clear to the Laras that their daughter had an underlying medical condition yet to be discovered by health care professionals.
The family sought out answers and visited neurologists, who found Emma developed tethered spinal cord syndrome, a neurological disorder that occurs when tissue attaches itself to the spine. At just 5 years old, Emma went for her first surgery.
“Surgery was weird and scary,” Emma admits. “I felt frightened, but after my recovery, I felt better.” The recovery took longer than expected. The family had been told that surgery may not rid Emma of her symptoms, but it would not make them worse. That prognosis, however, was proven wrong in the weeks that followed the procedure.
“Emma got worse after surgery,” Rebekah shares. “She had bowel issues and even lost all bladder control at one point. We found a neurosurgeon who treated individuals with complex conditions and tethered cord.” Emma had a second tethered cord surgery, which proved more successful than the first.
A six-year search
The Lara family next sought out the expertise of three different gastroenterologists to address Emma’s digestive and growing issues. It was during one appointment in Wisconsin that a specialist mentioned Emma’s symptoms appeared to mirror a connective tissue disorder.
“The doctor said that Emma’s symptoms sounded like another patient of theirs who has Ehlers-Danlos syndrome, hypermobility type, or EDS,” Rebekah recalls. “That’s when we dug deeper and found a geneticist who helped us determine a diagnosis. After six years of searching for answers, we finally had a name, a reason, for our daughter’s daily symptoms: EDS.”
Giving pain a name
Adam says the diagnosis gave the family hope. “It was a relief to have a diagnosis for her,” he explains. “With this new information, we felt confident we could create a more targeted medical plan to address her symptoms.”
Emma’s parents researched the rare condition to understand what had been riddling their daughter’s body most of her life. Ehlers-Danlos syndrome is classified into 13 subtypes. Children and adults with EDS have unstable joints, are more flexible due to faulty collagen, bruise easily, and endure musculoskeletal pain. In addition to EDS, Emma has also been diagnosed with mast cell activation syndrome.
For Rebekah, this newfound information led to an EDS diagnosis of her own. “I’ve had similar, but not severe symptoms all my life,” Rebekah admits. “I thought it was normal to have painful knees or joints that crack.”
Rebekah’s diagnosis inspired the mother of three to play a more active role in developing her own treatment plan. It may also explain why Emma’s two sisters, ages 6 and 5, are experiencing pain; they too are suspected of having EDS. Over the last few years since Emma’s diagnosis, Rebekah says she’s found value in the support from like-minded parents, caregivers and organizations.
“When I have questions about Emma’s symptoms, I rely on online support groups, the Ehlers-Danlos Society website, and books,” Rebekah says. Adam’s takeaway from Emma’s diagnosis has been more enlightening, finding positivity through the experience: “This chapter of our lives has opened my eyes to the challenges Emma faces,” Adam explains. “I have so much more sympathy and patience because of my courageous girl.”
Fighting to survive
On days when Emma wasn’t experiencing severe burning, aching, or soreness, she would spend time outside or with friends. March 4 of this year was one such low pain day, when Emma had a friend over to play. Unbeknownst to her, Emma would find her health hanging by a thread that day.
“Her symptoms came out of nowhere,” Rebekah remembers. “She was violently ill, and the sickness wouldn’t go away.” Emma was rushed to the hospital a couple days later, where she underwent testing. Common causes were ruled out and results of genetic testing are pending.
Doctors eventually determined that Emma experienced acute liver failure, but its origin was unknown. The sudden illness led to Emma’s gastrointestinal system shutting down, kidney failure, respiratory failure, pneumonia and sepsis; she had to be intubated. Her parents felt defenseless against the multi-organ failure episode.
“Emma spent four weeks in the pediatric intensive care unit, fighting for her life,” Rebekah explains. The young girl was hospitalized a total of 11 weeks. Her parents took turns being in the hospital while also caring for their two other children. Family and friends rallied together and took turns caring for the girls, so Rebekah and Adam could be by Emma’s side. After one month of being in a physical rehabilitation hospital to regain muscle strength, Emma was finally able to go home. Doctors are still unclear what caused the unusual health incident.
Bravery through illness
Once home from the hospital, the family made changes to support Emma’s health needs. “We hired a nanny to help with the younger children while I took Emma to her rehabilitation program and weekly appointments,” Rebekah says. “Although a financial strain, we knew it was the right decision to help our family through Emma’s recovery.”
Nurses were also hired for overnight medical support to monitor Emma’s feeding tube and oxygen tank, and assist with toileting needs. Doctors suspect that before her hospitalization, Emma suffered a stroke while at home, resulting in additional health setbacks.
Now 9 years old, Emma focuses not on the hardships, but on the love she’s surrounded by. “Hugging my mom makes me feel better,” Emma points out. “She helps me with all of my medicines and feeding tubes. My dad is cuddly and likes to help me around the house.”
Despite the latest health challenges, Emma’s kindheartedness and spirit have remained intact. More recently, Emma has started attending birthday parties and playdates. Rebekah and Adam say they’re mindful of balancing Emma’s health with childhood experiences. Although not always easy, the couple try to modify plans that best fit their daughter’s needs and encourage time for her to spend with friends.
“I like to play with my friends,” Emma says. “I want other kids with EDS to know that some people are different and that’s OK. You can still all play together.”
Continuing down the road towards recovery, Emma attends physical therapy and uses a wheelchair when necessary. “Emma has come to depend on her wheelchair to make her days easier,” Rebekah says. “It allows her to enjoy the world around her.” Whether at the zoo or arboretum, Emma almost always has her favorite stuffed animal, “Lamby,” by her side; it also provides comfort during the difficult moments.
Looking to the future
In preparation for the new school year, the Laras are expecting Emma’s 504 plan to transition to an individualized education program, or IEP, to offer additional support and instructional services. “
“I hope her classmates see past her medical challenges and can appreciate Emma for the amazing, strong young lady that she is,” Rebekah shares. Both Adam and Rebekah wish their daughter may find times of joy now and in the future. “My hopes for Emma are to be more comfortable and healthier in general to allow her to do things she wants to do in life,” Adam remarks, noting Emma has recently undergone genetic testing, which may result in new answers.
“My current mantra is ‘day by day,’” says Rebekah, when asked about Emma’s potential new diagnosis. “I try to live in the moment and take each day as it comes.”
Living outside of her diagnosed conditions, Emma recognizes and embraces her uniqueness. “Even though I have EDS, I am still a beautiful person,” Emma says. The young pediatric pain warrior wants to teach swimming when she’s older, as it’s an activity she’s been able to enjoy throughout her pain journey.
Ehlers-Danlos Society: ehlers-danlos.com