My Patient Story
Congressional District: MN03
Genetic Disease, Rare Disease
Issues and Challenges
Stephanie has encountered: Access to Expert Providers, Access to Medicine, Copay Issues, Medicare / Medicaid Issues, Surprise Billing, Caregiving, Copay Accumulator, Disability, Prior Authorization, Social Security Disability, Step-Therapy / Fail First
My Name is Stephanie Tomlinson. I am a lifelong resident of MN. I am also the mother and grandmother to people who have a rare disease. I am here today to ask for your support of HR4393, the Advancing Access to Precision Medicine Act.
On December 27, 1999, my third child made his entrance into the world 5 weeks ahead of schedule. He was a planned a c-section because my health was failing. Theodore was delivered with no complications and had APGAR scores of 8 and 9. However with in 60 minutes of delivery, he went into cardiac arrest and was placed on a ventilator. He remained connected to life support while answers were sought for his unexpected demise. As parents, we prepared for the absolute worst thing that can happen. Slowly, he began to improve and after 17 days, he was extubated and continued his improvement. With still no answers on why he decompensated so quickly, he was discharged from the NICU at 23 days. Only to be readmitted 37 hours later to a PICU at Children’s Hospital. This was the start of his complicated, nefarious journey.
For the next 10 months, he missed every milestone. His pediatrician recommended we see an orthopedic specialist to make sure his hips and knees were ok. That specialist told us right away that our son had a neuromuscular disease, and we were sent to a neurologist. By age 4, after having a course of the regular stomach flu, he lost the ability to walk. Due to this latest development, our neurologist sent him for a muscle bx in Atlanta, GA. This was ONLY lab/doctor in the entire country who could perform the testing that was needed.
6 weeks later we received a dx of Mitochondrial Disease, Complex III deficiency. Living in MN allowed me access to very well-respected medical care. The Mayo Clinic and the University of MN. However, both entities had no idea what this dx was, and told us what we feared. There was no cure, no treatment, and from what they could tell, our son would have short life, and not live to be a teenager.
There is a saying that the mothers of medically fragile children are better investigators then the FBI. In 2007, I took to the budding internet and started searching key words of his dx. Finding other parent groups, PubMed articles and various published works. All lead me to a doctor in Boston. I called and asked to have an appointment, making sure they understood I was coming across the country, and I needed time to save money, and get insurance to cover the cost of the visit. It was a 7 month wait.
At that visit, with Dr. Mark Korson, our son was started on a medical supplement cocktail. Within 2 months we saw our son accomplish physical tasks that were never possible. In 2013, our family waded through some of the darkest times. My husband of 24 years died suddenly. The stress from this caused my son to down spiral. I reached out to the NIH and asked if he could be considered for a trial that was looking at Mito kids and immunology. They allowed us into the study. Through the NIH, Ted was genetically studied. He was one of first patients in the world to have his Whole Genome Sequenced. It took over 15 months to get the results. And because of the infancy of the art of Genome Sequencing, we were left with more questions than answers.
Present day, actually September 2021, his WGS was reinterrogated, and new supporting evidence of his disease was identified. We learned that many medications that he was presently taking were actually more harmful. This was discovered because of the genetic study that was conducted. And having people educated to know how to interpret the results. We need to have genetic studies done as a screen, especially with children who present with unknown characteristics. It shouldn’t have to take another family 14 years to have their sons’ medical needs legitimized, and another 7 years to learn how to implement the findings.
Passing HR4393 will allow more research into a fast-developing area of medical treatment. Where doctors can learn that one size fits all aren’t always the safest and best practice. Having the knowledge of genetics allows everyone to be proactive instead of reactive. Reactive medicine is always more costly in resources and lives.
Thank you for letting me share our story. I am available to you and your staff if you have any more questions or would like to know more.
My Motivation and Inspiration
Watching other families struggle through the diagnostic process, has championed me to jump in! We don't have the resources to invent a new system, but I think we could fix what is currently there.