Fighting the odds: Aunika's story
Adam Ward and Katherine Ward, CTV Barrie
Published Tuesday, November 21, 2017 3:42PM EST
Last Updated Thursday, November 23, 2017 12:27PM EST
Celebrating a first birthday is something every parent treasures. It’s a point of growth, a moment that marks the end of a chapter and the beginning of a new one. Aunika Kerr celebrated her first birthday on Sept. 23 with her parents’ harmonic version of “Happy Birthday.” The room was lit by the dim candles on her birthday cake. Her brother wore a surgical mask.
This was a day her parents thought would never come because Aunika has a very rare condition. She has no thymus and therefore no immune system. Doctors said she might not make it to see her candles.
“She loves reading stories. She loves to giggle and laugh. She’s very alert and watching what you’re doing to learn what she can. She’s generally a happy little girl,” says Jason Kerr, Aunika’s father.
Aunika loves cuddles and exploring. She craves interaction and yearns for a social life. It’s something she has only been able to experience by looking out a window in her Orillia home or through videos her mother, Maggie Shaw, shows her of other babies.
It’s not easy or perfect. Their lives involve a lot of hand sanitizer and laundry. But it’s more than the family thought they would ever have.
“There definitely is a paranoia. I mean if I touch something, I now mentally keep track of what I am touching and that I have touched it so I can disinfect it.”
Shaw’s pregnancy with Aunika was easy going. When it came time to give birth, Shaw expected to be out the hospital, with Aunika in her arms, in a couple of days. But doctors knew right away that something was wrong.
She had respiratory problems and a small right ear, a condition known as microtia. Aunika was rushed to Sick Kids Hospital in Toronto, where they conducted newborn screening. It’s an early detection test done across the province to find treatable diseases that often show no symptoms.
The test found that Aunika was immune deficient. But they didn’t know why. Doctors ordered an exo-genetic sequencing to dig deeper into why her body wasn’t producing T cells. T cells are a type of white blood cell that float around your veins to help fight off infections. The tests came back negative.
“[The doctors] said, ‘We’re so sorry. We don’t know why she doesn’t have an immune system. It’s either a bone marrow issue or a thymus issue. You don’t want it to be a thymus issue,’” Shaw explained.
“Because of her condition and because she’s a complete medical mystery to them, they would be very surprised if she made it to her first birthday and warned us that we should really be enjoying our time with her while we could.”
Finding out that some of the best doctors in Ontario couldn’t figure out what was going on with their daughter was hard to take in. What was worse was being told their daughter could die from a common cold.
Not having a thymus is a fatal condition. If something isn’t done, most children die by the age of two.
“You’re really certain you’re doing everything you can to protect your child, to try and reach out in every way, and they’re coming back with not a whole lot of answers for a long time. It was really hard to deal with,” says Kerr.
The search for help
Shaw was told by the doctors at Sick Kids that there was only one place in North America currently treating this type of thymus issue. It’s an experimental program done out of Duke University in North Carolina.
Shaw started doing her own research. Digging deeper online, she found the medical papers of Dr. M. Louise Markert, the lead doctor of the program at Duke. She found a phone number, and with nothing to lose, gave her a call.
“I said look, I think my daughter is one of your very rare patients. Can I please talk to you about her and have her medical information sent to you.”
Markert agreed and ordered a few more tests from the doctors in Ontario. After reviewing the results, Markert took on Aunika’s case.
In May, Aunika and her family drove to North Carolina. They were given their own apartment through the Ronald McDonald House.
“We felt safe. We felt taken care of and we felt that we were in the right place from the moment we decided to go,” says Kerr.
Markert and her team determined definitively that Aunika had no thymus. There are many different reasons a patient may not have a thymus.
Markert states that 40 per cent of the children she sees have CHARGE Syndrome. Thirty per cent have a chromosome problem called 22q11, which is also known as DiGeorge Syndrome. Twenty per cent are children of diabetic mothers.
Little Aunika had no genetic defect. Her situation is so rare, it only equates to about 10 per cent of the children that go to Duke for this treatment.
The thymus transplant
The thymus sits right above the heart. Markert compares it to a school house.
“The students arrive at the beginning. For the thymus these are stem cells from the bone marrow and then they have to study for a semester. This will be four or five months to learn those lessons or protecting the child against infection and not attacking the child.”
The team decided that Aunika needed a thymus transplant. It’s an experimental procedure that is still under review by an institutional review board and the United States Food and Drug Administration.
The procedure comes with no guarantees. The transplant is only possible through a donation from another sick kid.
“During heart surgery on children under the age of nine months, sometimes the surgeon has to operate. The thymus can be bigger than the heart. It covers up that area. So they may take out a portion of the thymus in order to do that operation to save the baby’s life,” says Markert.
That little piece of the thymus is often thrown away. But with a small piece, Markert’s team can save a life.
“When we approach families where their children are going to have heart surgery the next day and ask them if any thymus or part of the thymus comes out, can we use it to help somebody else, they almost always say yes.”
On July 7, Aunika underwent her transplant surgery. Slices of thymus tissue were inserted into her leg. She became the first child in Ontario to undergo this procedure and only the eighth in Canada. Since the procedure’s creation in 1993, only 92 children have been treated at Duke.
But this doesn’t mean the thymus will work and it’s still too early to tell. To go back to Markert’s school analogy, they’re looking for cells with graduation caps.
“These are the T cells that have come out of the thymus recently and that’s what we’re looking for. Normally we can see these cells come out at around six months.”
Life in a bubble
After eight weeks at Duke, the family returned home. Their lives were forever changed. The isolation continues. When they leave the house, they have to constantly be aware of what’s going on around them, who they’re interacting with, and what they’re touching.
If they go grocery shopping, they often wear masks and gloves to protect themselves from any potential infection. Until Aunika is able to produce T cells, she is at risk.
“It’s constant handwashing. The moment we come back home, we have to shower and change and disinfect. We can’t go places together, very rarely, because one of us has to be here with her,” says Shaw.
In 1976, John Travolta played the part of Tod Lubitch in the film, “The Boy in the Plastic Bubble.” At home he lived in a literal bubble and when he left his home, he used a protective outfit. It was one of the first times immune deficiency was thrown into the spotlight.
Aunika’s parents have taken a less-than-Hollywood approach to transporting her. When she has to leave the house for medical appointments, she is concealed behind a rain cover. Every room they enter, they disinfect themselves.
“Even if they assure us they’ve done it, it doesn’t matter to us. I put my gloves on and I start to use hospital-grade wipes to wipe every surface down and every door knob and anything she may accidentally touch or come in contact with.”
For context, a child in daycare is generally exposed to numerous viruses. They normally have five to 10 viral infections in a season. If Aunika had just one of those infections, it would likely be enough to kill her.
Local medical support
On Oct. 19, Aunika was rushed to Sick Kids with a rash all over her body. It was scary, especially considering the steps the family takes to protect her.
A blood test came back with an interesting find. It found T cells, but these ones had gone rogue. They started to attack Aunika. It was good news/bad news for the family.
“They discovered that she had several hundred [T cells]. To go from zero to several hundred is a huge jump and they came in really quickly. The transplant is working, but we have to manage it now,” says Kerr.
The family is in constant communication with Dr. Markert, the immunology department at Sick Kids and Dr. Ryan Smith, a pediatrician at Orillia’s Soldiers’ Memorial Hospital.
Smith helps administer Aunika’s IVIG treatment once a month. It’s a treatment that introduces immunoglobulin to her body. It helps Aunika ward off infections. Immunoglobulin is normally created by the body on its own, but because of Aunika’s condition, that doesn’t happen.
“It’s helping replace something that her body may not be making on its own. So in case there is a bacterial infection in her body, that will help fight it,” he says.
The family also has a night-time nurse. They watch over Aunika so mom and dad can have time to sleep.
After petitioning Ontario’s Ministry of Health for help, the province agreed to support the family. They covered all medical expenses while at Duke, up to US$600,000.
A journey of hope
While Aunika has shown signs that her new thymus is responding to her body, it’s still too early to tell what will happen. In January, the family will likely know if the thymus is producing T cells with the all-important graduation cap.
“Parents send me photos all the time of their children trick-or-treating, that’s a big one. The first day of school is huge. Going fishing, going on a baseball team, girl scouts. That’s what I would hope for her,” says Markert. “To participate fully in school and have friends. That’s what we would like.”
It’s been a long journey. It has tested the resolve of Aunika’s parents. It has forced them down paths with no clear direction. It’s taken risk and sacrifice. But in the end there has always been a glimmer: their daughter.
“There’s still a long road to go, but she’s going to make it. She has a good team behind her,” Shaw said, tears running down her cheeks.