Anne Johnson and her 4-year-old son, Mitchell.
As a medical writer for CSL Behring, Anne Johnson works for a company that develops and delivers products and programs for rare diseases. As the mother of a 4-year-old boy with STXBP1 Encephalopathy, a rare genetic epilepsy, she is also very familiar with the challenges faced by families affected by these types of conditions.
“When Mitchell was first diagnosed, we were told that he would not likely be capable of very much,” Anne recalls. “People with this diagnosis often can’t communicate and there is substantial cognitive impairment. For a time his head control and neck muscles were so affected that he aspirated his own saliva and has to be fed through a tube in his stomach. I was told that he would likely never walk, talk, communicate or do anything meaningful. I remember looking at my son and telling him that we were not going to accept this.”
Years later, Anne says that her child, who was once not able to stretch his hands to reach for a toy, is now rolling around, almost crawling and taking steps, nodding for yes and no, vocalizing simple words, and can take 200 steps using a gait trainer (similar to a walker, except it has wheels and is used primarily to teach people with disabilities how to walk). “My son and I continue to beat the odds and push the medical community outside its comfort zone for the betterment of people with complex medical needs, rare diseases, epilepsy and disabilities,” she says.
Years with CSL Behring:
6
I’m proud of:
In addition to raising the most amazing 4-year-old on the planet, I laid the groundwork for a foundation for this rare condition. With the help of our Parent Board we built STXBP1 Disorders and the foundation was registered a nonprofit as the STXBP1 Foundation. Over the last three years I have used vacation time to attend conferences that have exposed me to some of the best and brightest people in the fields of genetics, medicine and biochemistry. Through this journey I obtained support from our scientific advisory board and our dedicated board members who are also parents of “STXers.” It is our deep love for our children and respect for one another that drives us to success.
Goal I’m striving toward now:
I want to continue our progress and watch Mitchell grow to his full potential. It is my job to support his journey, whether it is building him a sensor controlled car so he can control his environment or be his cheerleader when he is down. For our foundation, we are participating in a very large fundraiser sponsored through Global Genes (Festival of Children) which will fund our very first STXBP1 Conference/Strategy Workshop. Our families hope to raise $40,000 by March and we hope to enroll 100 patients by next year in our registry to attract more researchers to study this disease. We also seek to spread awareness regarding the need for increased funding for epilepsy, which affects 1 in 26 Americans but funding is limited.
Best advice anyone ever gave me:
Celebrate achievements no matter how small they may seem and through it, take nothing for granted. Letting go of the expectations based on a typical trajectory was so helpful to me in parenting a special needs child. In my darkest hours, my son’s pediatrician told me that he’s the child I get to parent and that I just have to let go of my own expectations and love him for the child that he is.
Something I learned the hard way:
With my personality, I am like a bull running full steam ahead and sometimes it is better to be patient and sit back and let things happen. I have gotten better, but I think this lesson is still quite the work in progress, especially when I am passionate about something.
My idea of the perfect day:
My life is so hectic that I really enjoy the quiet moments where I can enjoy my son.
A hobby I enjoy:
Opera singing! When I was a child I set up “concerts” and made everyone in our tiny village of Lazcano, Spain, listen to me. I would have the neighborhood children help me set up a stage and we would perform for all of the parents and children to hear. This was particularly fun to do in a place where there wasn’t a whole lot of things to do. However, where it all really began for me was when I got a solo in kindergarten to sing “Zip-a-Dee-Doo-Dah.” After that point I caught the “bug” at a tender age of 5 and I was hooked! I began to perform in show choirs and select groups at nearly every school I attended. Throughout my life I performed in Disney World, SeaWorld, Peddler’s Village, McGill, a Phillies game, school shows and more.
When I was in junior high and high school is where I began to take things to the next level and began taking voice lessons. In ninth grade we performed the musical “Cats” and the other performers included Jenny Lee Stern and Pink. I later went on to join my college choir at Drexel for a couple of years and I never quite mastered the sight reading which was among one of the reasons I opted for a career in science vs. music. Over the years since then, I performed at weddings, family events, and similar occasions. Currently, I am not able to fit practices and performances into my hectic schedule. Where I can, I sing to my son but more in a musical therapy capacity. It seems that many of our “STXers” respond quite well to music. My little guy tears up and attempts to vocalize when we “sing together” music is definitely a strong influence in our lives.
Favorite musician:
Freddie Mercury
Favorite movie:
Contact
My most prized possession:
None … I try not to get attached to material objects. I am happy for the life I have built and the home and love that I am able to provide for my son.
Something most people don’t know/understand about my job:
Most people don’t know what a medical writer is and I have to educate them on what I do. We work with our teams to create clinical protocols, investigator's brochures, common technical documents and clinical study reports in support of our clinical trials at CSL Behring.We write about how we will test our medicines in humans and we work with scientists, statisticians and physicians to communicate our analysis of how medicines performed in clinical trials. This information is necessary to help the FDA make decisions on whether to approve new drugs or new indications.
My advice to anyone considering working at CSL:
CSL is a great place to work and I feel privileged that we are focused on our patients and making real differences in their lives.
What motivates me is:
Leaving a lasting, positive legacy is ultimately what really drives me. Before any action I ask myself if this will improve my life or someone else’s and if the answer is no, I generally don’t get involved. I think this part of my personality and sense of duty comes from my background in science. Finding a cure for my son is the ultimate purpose and now shapes many of my decisions.
The most interesting thing about me is:
I am an opera-singing molecular biologist and I am a disease-cure hunter!
