For Sebastien and Annett Cotte, no two days are the same when it comes to caring for their son, Jagger.

A typical routine for the Stone Mountain, GA, couple begins when Jagger wakes up between 10:00am and noon. From there, the couple must spring into action to ensure that Jagger’s needs are taken care of.

“He starts coughing right away so he has to be suctioned, and then we have to give him a breathing treatment,” Sebastien said. The treatment can take between 30 and 40 minutes. While he or Annett assists Jagger with the breathing treatment, the other prepares the more than 30 doses of medication Jagger takes each day. Each dose will need to be given through his feeding tube every hour.

“If he’s calm, we let him be until mid-afternoon,” Sebastien added. “Sometimes we try to do things with him. Sometimes he will fall asleep. In between, there are more breathing treatments, sponge baths and lots of coughing. We also have other things to do, like work and laundry.” They care for Jagger without a nurse or any outside help.

“I always tell people I am lucky enough to have a husband who cooks, because I eat well,” Annett jokes.

If everything goes well with what the couple calls “Jagger’s continuum of care,” the family may settle into bed at 3:00am. More often than not, bedtime is closer to 5:00am.

In 2011, with little understanding about what was wrong with their son, Sebastien and Annett had doctors perform a muscle biopsy on Jagger after several hospital visits where Jagger’s muscles were stiffening, and he was writhing in pain. During one visit, Jagger was revived after he coded – an incident that has repeated several times since the first visit.

The biopsy results showed Jagger had a mitochondrial disease. A follow-up MRI revealed a bisymmetrical lesion on his brain. Between the MRI, blood tests and the muscle biopsy, the Cottes received a clinical diagnosis for Jagger: Leigh syndrome. They were told that Jagger would not live to see his fourth birthday. Jagger is now nine years old.

The Cottes left the hospital with a priority of rearranging their lives to make sure Jagger would have a wonderful quality of life and to keep his suffering at a minimum.

“I know he knows he’s loved,” Annett said, through tears.

As any parent who cares for a child with mitochondrial disease knows, personal sacrifices are many and often go unnoticed. While honoring their promise to provide Jagger with quality of life, they still have full time jobs and other responsibilities. Sebastien has worked in sales for a Japanese based company for 15 years. His main office is in Chicago, but Sebastien works from the family home outside of Atlanta. His employer allows him flexibility in his schedule.

“As long as I have an airport near, and I have a computer, I can work from anywhere,” he said.

Since his company’s headquarters is based in Tokyo, Sebastien has the opportunity to do most of his work while Jagger is sleeping as most of his colleagues are in the office during that time. He also credits his supervisors for offering him flexibility and understanding.

For the past 14 years, Annett has worked for the Centers for Disease Control (CDC) in Atlanta. Her schedule allows her to work from home three to four days a week.

“I work on Malaria control in sub-Sahara and Africa. I do work late at night, which is beneficial because my colleagues are usually up when I email or call them so we can communicate in real-time,” she said.

For both, juggling their careers and travel schedules can be tricky. They use a shared calendar to track meetings, travel, and Jagger’s medical appointments. Coordination is critical.

For example, Jagger has an IV port that requires cleaning and sterilization every seven days. It’s a job that requires two people.

“Sebastien is my assistant on this, so I try not to be gone more than eight days in a row,” Annett explained. “Besides, I miss cuddling with Jagger, so eight days to be away is plenty.”

Because of the difficulty in transporting Jagger, the Georgia heat in the summer and complications that could arise, the Cotte family is usually homebound when they are not working or traveling for business.

“Before Jagger was born, we were very active and traveled a lot,” Annett remembers. Taking care of Jagger was an adjustment for the couple, who say they were definitely not couch potatoes. “You kind of go stir crazy a little bit after being stuck in the house for several days missing the sunlight,” she added.

To maintain their own mental health, the couple concluded they needed to get out and do things, even if they have to do them individually to maintain Jagger’s care at home. Annett likes to kayak and paddleboard, and Sebastien, who she credits with being more outgoing, likes to go to concerts. They also find support and comfort talking with parents whose children are also affected by mitochondrial disease.

While the Cottes point out that they are realistic about Jagger’s future, it doesn’t stop them from working to help other patients and families who are on a journey with mitochondrial disease. Sebastien is a longtime advocate for the use of medical cannabis an option for patients. He continues to educate lawmakers and patients about medical cannabis therapy and how it enabled them to eliminate the opioids they gave Jagger for pain.

In March of 2019, Annett served as a panelist for the Patient Focused Drug Development Meeting with the U.S. Food & Drug Administration (FDA). The meeting was hosted by the UMDF in partnership with Mito Action and the Muscular Dystrophy Association. The patient-led meeting provided affected adults, parents and caregivers a platform to detail their own personal experiences with mitochondrial disease. The testimony was published in a “Voice of the Patient” report outlining the need for therapeutic development towards treatments and cures.

“It was very emotional,” Annett said about her experience. “I felt as if the other panelists were being Jagger’s voice, because he is non-verbal. They put a voice to his pain and discomfort. And yet, it was comforting for me to hear the panelists speak because, as devastating as our stories are, I was able to relate after hearing patients talking about their experiences.”

The Cottes track their involvement with UMDF back to shortly after Jagger was born. They remember being new parents who knew nothing about mitochondrial disease. They aren’t sure if they found UMDF in an online search or if it was through the recommendation of another parent, but they do remember the desperation they felt.

Sebastien and Annett were invited to an Atlanta patient family meeting by UMDF’s Education Support Associate, Margaret Moore. It was there Sebastien met other patient families and learned about Mitochondrial Medicine, UMDF’s one of a kind annual symposium that brings together patients, scientists and clinicians.

“When I went to my first symposium, it was a really big deal, because I realized we were not alone,” Sebastien remembers. “I also realized there were a lot of people who were caring about our kid and really wanted to help. They are dedicating their lives to finding a cure and making our kid’s life better, and that was a huge boost of hope.”

The Zilber Family makes many efforts to honor the child they never got to know.

Sophia Zilber doesn’t know where her volunteer assignment with the UMDF will take her, but she hopes her work will make a difference in the lives of mitochondrial disease patients.

Sophia, and her husband, Ross, know all too well the devastation this disease can bring. The Zilbers, from Newton, MA, are the parents of three young boys and were ecstatic when their only daughter, Miriam, was born in February of 2017. As soon as they brought her home, Sophia felt something wasn’t right.

“She was not breast feeding, and she wouldn’t sleep,” Sophia remembers. After being told by their pediatrician that ‘Miriam would figure it out on her own,’ the Zilbers switched the baby to bottle feeding; but, Miriam wasn’t interested in that either.

The worried parents were unwilling to go another weekend without Miriam eating. Sophia took her to the doctor and asked if taking her to the hospital now would be recommended but was sent back home.

Two days later, Miriam had a puffy hand that looked unusual, and the Zilbers took her back to the doctor’s office. Upon arrival, the pediatrician called 911. Miriam’s vital signs were very concerning.

Doctors thought the baby was battling an infection. It would be a few days later when physicians would tell the Zilbers that an MRI showed Miriam had mitochondrial disease with a very rapid progression. She would pass away a month later.

Doctors later told the Zilbers that Miriam had Leigh syndrome.

To honor the child they didn’t get to know, the Zilbers became very active volunteers for the UMDF.

Ross, who works in financial services, uses his time to spread awareness about a disease he thinks needs more recognition. He facilitates an awareness event each year at City Hall where facts about mitochondrial disease are displayed and questions are answered.

In 2019, Sophia and Ross invited Rep. Joseph Kennedy (D-MA-04) and Amel Karaa, MD, of Massachusetts General Hospital to the event.

“The Congressman’s office offered to share information about mitochondrial disease on his social media channels because of the strong following he has,” Ross said.

As part of Awareness Week 2019, Sophia shared an interview she and Ross gave for the American Academy of Pediatrics newsletter with actress Mayim Bialik. Bialik, who starred on the television program, The Big Bang Theory, is also a trained neuroscientist. Sophia asked the actress if she would help spread the word about mitochondrial disease. Bialik was moved by the story and wanted to help. She created a video for us to share across social media during awareness week. Sophia and Ross are grateful for Bialik’s kind gesture of support.

The Zilbers recognize the importance of funding the promising research that moves the community fast towards treatments and cures. That is why they were excited to be inaugural members of the accelerators program in 2019.

Despite having a full-time job as a statistical programmer at a large pharmaceutical company in Boston and raising three sons, Sophia devotes herself to helping patients and families by bringing her expertise to the Mitochondrial Disease Community Patient Registry (MDCR). Working alongside UMDF Science & Alliance Officer, Philip Yeske, PhD, Sophia is gathering information from the registry that she hopes will help others. She knows putting her mind and skills to work for this project helps her in living with her loss.

In working with the anonymous survey responses, Sophia says patients, families and caregivers want physicians to understand about the challenges they face in their daily lives.  “All comments are very sincere and honest, and it is clear that people put their hearts into these hoping someone will read them. I want them to know that somebody heard them,” Sophia said.  She and Dr. Yeske turned those patient comments into a recently published paper they believe will help all doctors who are treating mitochondrial disease patients understand their physical and emotional needs.  The paper, “Mitochondrial Disease Community Registry: First look at the data, perspectives from patients and families”  published in the Journal of Mitochondrial and Metabolic Medicine. The paper was published in March 2020. Sophia hopes it will make a difference for those on their journey.

We count on supporters like the Zilbers to volunteer their expertise for important projects that not only provide a voice for patient families but help our community move faster towards treatments and cures.