Leni's
Story
Eleanor "Leni" Kaplan was born a perfect baby in June of 2018. On her fifth day of her life, she had to be rushed back to the hospital and admitted to the NICU, thus beginning our quest for answers. Four years ago, she was diagnosed with one of the the rarest and most severe genetic diseases, TECPR2 or Spastic Paraplegia 49, a extremely progressive neurodegenerative disease that is ultimately fatal to children. It is pediatric ALS. Our hearts stopped, we were told there was no treatment, no hope and most importantly no cure. So we are creating one, and in the process, revolutionizing the current broken model of rare disease drug development.
Our Journey
Leni was born in Boston Massachusetts, on June 27th, 2018. She was a perfect baby girl, even receiving a rare 10 on her APGAR. It wasn't until a few days later at home, that we realized something was wrong. She started to deteriorate rapidly, developing severe hypothermia, struggling to breathe and having to be admitted to the NICU. Little did we know just how much our lives were about to change. It took a year and a half of traumatic NICU and PICU stays, missed developmental milestones, recurrent pneumonias, multiple surgeries to address breathing and swallowing difficulties, a ventilator, a permanent feeding tube and a few close calls until we received the diagnosis of TECPR2. It's a terrible disease, eerily similar to ALS in adults, that affects every aspect of her body, worsening every day, leaving us fighting the clock.
Even with the odds against her and in face of adversity that few rarely see, Leni is the ultimate fighter, who continues to prove everyone, including modern medicine wrong. Doing the impossible everyday. Not just walking, but dancing. Not just talking, but singing. Her love for life and all it entails knows no bounds. She never fails to smile, or to give an encouraging hug. She truly is the captain of, Team Leni!