My daughter Emersyn is 10 years old. Two years ago, Emersyn participated in the phase 2 Trofinetide trial sponsored by Neuren Pharmaceuticals. Neuren has since partnered with Acadia Pharmaceuticals, and we are anxiously awaiting enrollment for phase 3 trials later this year.
As participants, families generally do not receive detailed information regarding the projected benefits of the trial drug, so as not to influence observations. Most trials are designed so that some participants receive the study drug, and some receive a placebo. However, my husband and I are confident that Emersyn received the actual drug during her trial. We, as well as her therapists and teacher, observed positive impacts. The most significant change we observed is that Emersyn said “mom”. It is typical for her to make the sound “ma” when she is upset or in need, but during the trial she began adding the final “m” to fully form the word. It was remarkable and encouraging.
Additionally, we noticed a significant decrease in tongue thrust, as well as improved hand control. Callouses from hand wringing and hand mouthing essentially disappeared during the trial. To watch symptoms that had become our everyday “normal” change for the better, or disappear entirely, was something that I will never forget.
Overall, the trial experience was very positive. Appointments were punctual and efficient, and everyone was very kind and accommodating of our needs. The most difficult part for Emersyn was having blood drawn. Luckily, Emersyn is incredibly strong and brave… of the many draws required during trial data collection, only one caused any significant discomfort.
Our family is committed to helping find a cure for Rett Syndrome (given that we can be confident in the safety of the treatment). We want a cure or advanced treatments to be successful, so that no family need face a Rett diagnosis without a plan to eliminate or minimize symptoms. We live in a small rural community in Michigan, but three families with Rett daughters reside in our local area. The impact is large on all of us.
Finally, we would be remiss without noting that Rettland Foundation is truly amazing!! Before the phase 2 study, we received a care package in the mail. A blanket, chocolates, handmade pillowcase, and various other items were thoughtfully selected to help make our traveling easier. Rettland also reimbursed for mileage, hotel stays, meals for Emersyn, and for one caregiver; all of which thankfully supported (and eased the financial burden of) our participation. We are forever grateful for the support we received!
