Kara, Rett Syndrome, and the Trofinetide Trial

This is our Kara. On the surface, Kara is a beautiful young lady with captivating bright blue eyes surrounded by long, thick eyelashes. Her smile is genuine, enough to lift even the sourest of spirits. Under the surface, however, lurks a thief. It's name is Rett Syndrome. It has stolen her ability to talk, walk, eat, use her hands and breathe normally. Kara was officially diagnosed in January 2009, after an exhaustive week of testing at the Mayo Clinic in Rochester, MN.

RettSyndrome.org defines Rett Syndrome as a unique postnatal neurological disorder that is first recognized in infancy and seen almost always in girls, caused by mutations on the X chromosome on a gene called MECP2. Rett Syndrome has been most often misdiagnosed as autism, cerebral palsy, or non-specifi c developmental delay. It strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 female births.

Symptoms of Rett Syndrome appear after an early period of apparently normal or near normal development until six to eighteen months of life, when there is a slowing down or stagnation of skills. A period of regression then follows when she loses communication skills and purposeful use of her hands. Soon, stereotyped hand movements such as handwashing, gait disturbances, and slowing of the normal rate of head growth become apparent. Other problems may include seizures and disorganized breathing patterns while she is awake. In the early years, there may be a period of isolation or withdrawal when she is irritable and cries inconsolably. Over time, motor problems may increase, but in general, irritability lessens and eye contact and communication improve,

At 9 months old, Kara stopped meeting milestones, and began the stereotypical hand-movements. We began researching, and knew before we received the official diagnosis that our daughter was afflicted with Rett. The confirmation came via phone call several weeks later, and we were devastated. Wow, I just realized that was over 7 years ago. We sure have come a long way in therapies and treatments, which brings us to Trofinetide.

We first heard about Trofinetide over 4 years ago, and back then it was called NNZ-2566.  Kara's neurologist at the Blue Bird Rett Center in Houston was heading up the initiative. It was originally developed by the Army to help soldiers suffering from traumatic brain injury to help quickly re-grow dendrites in the brain that had been damaged. Scientists discovered a benefit within the Rett Syndrome mouse model, and began clinical trials on adults back in 2014. Measurable benefits were recognized beyond expectations, and the Rett community exploded with renewed hope.

RettStudy.com outlines the specifics of Trofinetide as a modified version of a biologically active part of Insulin-like Growth Factor (IGF-1). IGF-1 is a protein in the human body that helps cells grow. Trofinetide is a modified version of a small part of IGF-1 called GPE, which detaches from IGF-1 in the brain. IGF-1 and GPE play a significant role in regulating the development of the brain and maintaining healthy brain function.

Trofinetide may help to improve brain function by reducing inflammation, regulating the functioning of cells called microglia, normalizing the connections between brain cells and restoring depressed levels of IGF-1 in the brain.

Kara has been on a waiting list for the pediatric phase of the Trofinetide trial since June of 2012. After years of praying, on May 11, I received a phone call from the study coordinator, followed by a pre-screening questionnaire for the study. On June 21, we got the list of dates Kara would be assigned for the study. In addition to receiving the study medication or placebo (we won't know which), the drug trial will consist of 8 trips to Houston for visits every 1-2 weeks, plus the initial screening. Each visit will be from 9am - 3pm, and consist of blood and urine samples, with monitoring of both Rett Syndrome symptoms and heart activity.

Our hurdles for participation are not yet all cleared. Through one of the medications treating Kara's dystonia, she has developed Prolonged QT (a heart rhythm disorder where her heart muscle, specifically within the lower ventricles, takes longer than normal to recharge between beats) . Her interval number is high, but not high enough to automatically disqualify her for the trial. She has to remain within the limits through her screening appointment on July 12, and then we're cleared for participation.  Keep those steady streams of prayers going! We need all we can get!

My initial goal in starting up a new blog was to journal our journey through this initial drug trial. But it will expand beyond that, as there will be another trial phase after this one we hope to get into, as well as her scoliosis surgery. I also want a place to share my epiphanies, thoughts, and prayers as I read through the Bible. Sometimes I get creative and develop recipes in the kitchen, so I apologize in advance, but I may be sharing those here, too. I have a lot of prayer warriors in my army, and for that I am grateful.

And as always, I need more coffee, love!