At mdgroup, clinical research is more than a profession — it’s personal. Why We Care is a series of real-life stories from our team, sharing how clinical trials have touched their own lives, families, and communities. These experiences drive our passion for delivering remarkable patient-centric solutions and reinforce why we’re dedicated to making clinical trials more accessible, compassionate, and human.
Every story is a reminder that behind every data point is a person, and behind every treatment breakthrough is hope.
For Karen Josey, Business Development Director at mdgroup, rare disease advocacy is personal. With over 30 years in the pharmaceutical world, her career has been dedicated to improving treatments and supporting patients – but it was her daughter’s long and uncertain journey to a rare disease diagnosis that truly shaped her perspective. Today, Karen channels that experience into her work at mdgroup, helping ensure every patient and family feels supported and cared for. This is her story of determination and why fighting for answers as a family has become her mission in rare disease research.
“I have worked in the Pharmaceutical World for over 30 years. When I was with Solvay Pharmaceuticals in the early 90’s, we launched a pancreatic enzyme for Cystic Fibrosis pediatric patients. Watching the CF families navigate a disease that could end their child’s life before age 9 (the life expectancy at the time) and seeing the kids suffer so much simply broke my heart and pushed me to work with the CFF in any way I could to help. I became the Board President for Michigan and was overseeing all fundraising.
At one of the CFF fundraising walks, a sponsor looked at me and my two small children, ages 3 & 8, and said, “It is inspiring that you work so hard to find a cure for your kids and the others’. He thought my kids had CF. I quickly said, ‘Oh no, my children do not have CF, I actually do what I do because I have two healthy children”. Those words have rang out in my head so often since 2011, as I would never have believed the health journey I would take with my daughter, Nichole.
During the summer before Nichole’s senior year in high school, 2009, she started having a series of symptoms that made no sense at the time but are very clear now as we look back. She was having headaches that Nichole described as if a balloon was in a glass jar and being filled with air and nowhere to expand. The headaches caused so much pain that eating and sleeping did not happen. She lost 22 lbs. (when she started out at 106 lbs.). Dizziness and passing out became routine. Brain fog was constant. Several times a week, Nichole would lose all feeling in her arms and legs, sometimes not at the same time. She had severe chest pain when flying as a cheerleader or riding on a roller coaster. She even passed out one time in the car when we were in the mountains of Tennessee. Her heart rate while sitting would spike to 180. With my husband as a paramedic and several friends who are doctors, no one could figure it out.
If you had told me how hard the next two years would be begging the clinicians, neurologists and surgeons to keep looking for what was wrong with Nichole and, more importantly, helping us fix it. After 5 MRIs, 10 EKGs, 12 blood tests, 3 neuro tests, echocardiograms, 6 holter monitor tests, 4 exercise stress tests, 3 CAT scans, all the doctors and test results came to several different, and not connected conclusions:
- Hypochondriasis
- Pinched Nerve
- Brain Injury
- Cardiac Issues
- Stress and Anxiety
- Eye Sight Issues
- Sleep Apnea
- Muscular Stress
- Lymphoma
As one can imagine, since these diagnoses are so far-reaching, every doctor or test appointment left us less hopeful. At one pediatric neurology appointment, the doctor called my husband and me into a room separately and said Nichole’s condition was all our fault. We had been putting so much pressure on her to keep up her 4.0GPA going into her senior year for placement into the University of Michigan with scholarship money. We were devastated.
For anyone who is a parent or caregiver, you know your child better than anyone and you know when they are sick and when they are simply faking it, so they do not have to go to school. We were committed to fighting every step and asking questions and finding a doctor who could finally connect the dots. The tearful “thank you’s” from Nichole for knowing how hard we were working to advocate for her, fueled us to keep trying.
Two years of a journey that only made our family stronger.
Finally, on a cold and snowy night in December of 2011, we cleared a waitlist of patients waiting for an MRI before the end of the insurance calendar year. I assume they called us first because we were paying out of pocket for MRI #6. Our insurance company stopped paying for MRIs at MRI #2, because they had both come back with no significant findings.
Three days later, we received the best Christmas gift we could have ever been given… A DIAGNOSIS… We were told that Nichole had a rare disease called Chiari Malformation – type 1.
Chiari Malformation (CM) is a condition in which brain tissue extends into the spinal canal. It occurs when part of the skull is misshapen or smaller than is typical. The skull presses on the brain and forces it downward. Chiari Malformation is not common, but increased use of imaging tests has led to more diagnoses. The only person who can diagnose Chiari Malformation is a radiologist and the only way to diagnose it is through an MRI. We were blessed in that the radiologist on call that night had just attended a conference where the CM condition was discussed. The doctor was reminded to check for Chiari Malformation when reading the MRI, especially when given patient symptoms like those Nichole was experiencing.
The next few months were all-encompassing but in a good way. Learning about CM and the doctors around the country and the type of surgical procedure they were experts in (there is not one way to do the surgery which makes deciding on a doctor a bit harder). In 2012 Google was not what it is now and no AI. A lot of our discovery came from phone calls and traveling to the doctors to get printouts or brochures.
On August 14, 2012, we kissed our baby and told her it was all going to be ok. Did we believe that? Not for a second.
When your child is having their head cut open from top to bottom of the neck and in our case a titanium plate was placed in Nichole’s brain space to act as a reservoir and keep the brain tissue in the skull. Knowing they were cutting a piece of her skull open and then bolting that back together kept my rosary on my lap for 9 hours. Nichole fought hard to work through the process of walking again and gaining strength in her neck and arms.
Speaking of walking – that was the far end goal for her to walk again and maybe be able to do a 5K run. but as our kids have more fight and determination than we can ever expect – Nichole was not only walking a year later… she auditioned and became an NBA dancer for the Detroit Pistons. She just finally ‘retired’ in 2023 at the age of 31. This past weekend, she achieved her last “post-surgery” bucket list item. She ran the Dopey Challenge at Disney World. From Thursday to Sunday, participants run a 5K, a 10K, a half-marathon and a full marathon. 48.6 miles in four days. She shined all the way through and has the medals to prove that the metal in her head is working.
Nichole knows how very blessed and lucky she is to be healthy again. To give back she became the Volunteer Director of the Conquer Chiari Walk Across America, walk that happened every September in about 60 locations around the US. After 5 years of working tirelessly, her walk moved up to 2nd in the country in terms of monetary donations and number of walkers. She certainly defines the words “Giving Back”.
Working in the field of Rare Disease is impactful and emotional enough, but knowing that at mdgroup we can bring the trial to the patient and/or bring the patient to the trial so we can learn more about finding a cure or at least quality treatments to make a difference in the lives of Rare Disease patients like Nichole, means everything.
She always said from 2009, “you have to go through it to get through it”.”
