Emily Cook

Child Health, News | one year ago

The Reality of Living with a Rare Disease: Emily’s Ongoing Battle

Rare Disease Day is an opportunity to raise awareness about the impact these diseases can have on the lives of those who are living with these illnesses. But for Julie Cook and her daughter Emily, every day is Rare Disease Day.

Each year, the last day of February marks Rare Disease Day, a time to raise awareness about the impact these illnesses make on the lives of parents and guardians. But for the Cook family, every day is Rare Disease Day. 

Caregiving hits home

Julie Cook, RN, has worked as a clinical nurse at Atrium Health Sanger Heart & Vascular Institute in Shelby, North Carolina for 15 years. But her experience with caregiving extends beyond her patients and into her own home.

Julie’s 18-year-old daughter, Emily, has a disease known as KIF1A Associated Neurological Disorder (KAND), a rare neurodegenerative disorder caused by changes in the KIF1A gene. Though the disease can vary greatly between affected individuals, known effects of this condition include intellectual disability, developmental delays, optic nerve atrophy and tremors among other things.

When Emily was diagnosed in 2017, she was one of just 66 individuals in the world who had the disease. Today, there are about 400 known cases of KAND in the world. Within the disease itself, KIF1A also has subsets of mutations.

“Even though Emily is now one of 400 who have KAND, there are only about 20 people who have the mutation she has,” Julie says.

KAND is considered a spectrum-type disorder, meaning the effects can vary from mild to severe symptoms, with the potential for life-threatening complications.

Seeking answers

Emily was Julie and her husband’s third child – their sons were nine and 12 when Emily was born. Although Emily was born with this rare disease, Julie says there was no initial cause for concern.

“This wasn’t my first go-around with babies,” Julie says. “I knew what to expect from my first two kids and Emily was acting 100% typical when she was born,” Julie says.

But as the months passed, Julie began to notice that Emily wasn’t meeting age-appropriate milestones.

“She was well over a year old before she could sit unassisted and she still hadn’t walked by the time she turned two,” Julie recalls.

Julie had been talking with Emily’s pediatrician and looking into reasons for Emily’s developmental delays. Just before Emily turned two, an MRI showed she had cerebellar hypoplasia – a neurological condition in which the cerebellum is not completely developed or is smaller than it should be.

Although this diagnosis gave Julie the ability to get Emily a referral for physical therapy, Julie says the diagnosis didn’t feel quite right. So she dug deeper. 

“We had visits with specialists, including neurologists and geneticists,” Julie says. “They were all great to work with, but they just didn’t have all the answers. I knew this had to be something more.”

At nine years old, Emily’s genetic testing showed a KIF1A mutation with an unknown significance. The results also showed that Emily’s parents didn’t have the mutation, and it wasn’t something they passed on to her. For Julie, the results raised more questions. 

Even though Emily was responding well to physical therapy and, with a lot of hard work, was now able to walk unassisted, Julie knew there was still more information to be uncovered. She celebrated each of Emily’s milestones with the persistence to find more answers for her daughter.

An unexpected diagnosis

By Emily’s twelfth birthday, she began to decline.

“Her walking was getting worse,” Julie says. “So we started making the rounds again. We saw the neurologists and checked her MRIs, CT scans and blood work.”

As they continued on their journey to seek a diagnosis, one of the genetic counselors they met asked if they could share Emily’s genetic test results with a contact at the National Institute of Health (NIH) who had experience and knowledge with KAND. That NIH contact ended up reclassifying Emily’s genetic testing, resulting in Emily’s diagnosis of the rare neurodegenerative disease.

Although it was a relief to have an explanation for Emily’s symptoms, it wasn’t a diagnosis they were prepared to hear.

“We are much better off having a diagnosis, but we thought there would be a treatment to go with it,” Julie says. “The answer we received came without a cure.” 

Emily has been involved in several research studies to help further the knowledge of KAND. Julie says the research programs also discovered Emily has several optic nerve issues, which would not have been detected as early if she hadn’t been involved in the voluntary studies.

A village of support

Emily turned 18 this year and is a senior in high school. After having a surgery in 2020 for scoliosis, Emily has been medically homebound for her studies. But thanks to virtual classes and in-home visits from her teachers, Emily is on track to complete her high school education in June.

Despite her challenging medical journey, Emily finds comfort in hobbies such as reading and therapeutic horseback riding. 

Another comfort in Emily’s life has been the consistency of physical therapy. Julie says Amy Horton, pediatric clinical specialist and physical therapist at Atrium Health Carolinas Rehabilitation Huntersville, has worked with Emily since she was 13 months old.

“Amy has been so good with Emily. She has helped Emily grow and mature over the years,” Julie says. “Emily thinks of all her therapists as her friends and she gives her all in each of her sessions.”

For Julie, support comes in the form of fellow parents of KIF1A children, and specialists who are devoted to researching a cure for the disease her daughter continues to fight each day.

Living with a rare disease

As Emily continues to get older, there is potential for other symptoms and conditions to develop. So far, Emily has not experienced seizures or blindness, which can be prevalent with the disease. But Julie says there are a lot of “what if’s” that go along with being one of the first in the world to be diagnosed with KAND.

“We’re kind of pioneers in this area,” Julie says. “Emily has to go through tests every year to make sure something new isn’t developing. We don’t always know what will pop up next.”

For those living with a rare disease, symptoms that may be innocuous for some people – such as nausea and dizziness – are compounded since it could be related to the disease.

“It’s never straightforward,” Julie says. “At each hospital visit, the doctors have to look at what may have triggered the symptoms and whether it’s a sign that the disease is taking a new turn.”

One of the newest challenges for Julie and her husband has been learning how to navigate care for a young adult who still needs medical guardianship.

“We have always gone to Atrium Health Levine Children’s Hospital for Emily’s care,” Julie says. “The first time we went to the hospital after she turned 18, I cried when I realized we’re on the ‘adult’ side of the hospital now. It’s still excellent care, it’s just a shift in mindset now that Emily is 18.”

To a parent who may be preparing for this transition from pediatric to young adult guardianship, Julie says a social worker or patient navigator can be a great resource.

“We met Annie, a social worker, through Levine Children’s and she has helped us think through everything from legal documents to finding adult specialists for Emily.” 

Aside from working tirelessly to manage appointments, file insurance claims and support fellow KIF1A parents, Julie says helping Emily stay healthy is her main focus.

“We don’t have a cure yet, but we’re doing everything we can do to keep her as strong as possible so she will be ready if a treatment is available,” Julie says.

Advocating relentlessly

Julie encourages parents who are seeking a diagnosis to continue to advocate on their child’s behalf.

“Finding a diagnosis and getting treatment for rare diseases are typically parent-motivated, “Julie says. “Emily’s doctors and therapists have all gone to bat for her and have been great about helping us find resources, but you as a parent have to be relentless and keep fighting for answers. It’s tiresome, but you have to follow your gut and not give up.”

Although Julie is passionate about Rare Disease Day, raising awareness about KIF1A is understandably close to her heart. She suggests learning more through KIF1A.org and spreading the word to those who may notice similar signs in their own children.

“As with many rare diseases, awareness is an important part of furthering research,” Julie says. “The more people who are seeking treatment, the more time and funding can be allocated to learning about the disease.”