Spencer’s Journey with Rett Syndrome

Spencer was diagnosed with Rett Syndrome on March 30, 2020. Rett syndrome is a rare genetic neurological disorder that occurs almost exclusively in girls and leads to severe impairments, affecting nearly every aspect of the child’s life: their ability to speak, walk, eat, and even breathe easily. The hallmark of Rett syndrome is near constant repetitive hand movements. Rett syndrome is usually recognized in children between 6 to 18 months as they begin to miss developmental milestones or lose abilities they had gained. Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. Will and I were tested after her diagnosis to see if it was inherited and it was not, just a random mutation.

We knew around 7 months that something was different about Spencer, she started missing milestones and was not as active as a nuero typical child.  It took over a year of different genetic tests and specialists to find her diagnosis. Spencer is now two years old and is working hard in physical therapy, occupational therapy, feeding therapy, speech therapy and hippotherapy (equine assisted therapy). 

Spencer adores anything with water, bubbles, animals, toys that spin, and books. She is the light of our life. She has taught us so much in two short years and works so hard.

She has always struggled with foods and is still on a puréed diet. All her liquids have to be thickened because she has an unsafe swallow and she is on a dairy free toddler formula called Kate Farms. She has been making slow buy steady progress with her gross motor skills and is very close to four point crawling!  Spencer started army crawling at 20 months and pulling up to high knees at 23 months. We have every hope that she will walk but probably not in time tostart preschool. We have ordered a gait trainer and hopefully that will help get her walking with assistance. She will also be getting a wheelchair to try and prevent scoliosis which is very common in Rett girls.

Spencer is non verbal, she has had four sounds since about a year old and never gained any true words. Spencer also never learned to point and because of that cannot simply use an iPad to communicate. We are currently trialing communication devices with a speech pathologist. She needs the option of touch and eye gaze because of her decreased hand function. Those that utilize eye gaze technology cost between $15,000-$20,000. Insurance will hopefully cover 80% of that cost but with the thousands we have spent in the last year with genetic testing, medical appointments, diagnostic testing, and therapies, we need some help.  There is very little funding out there for children under 3 years old and we have had to pay out of pocket for most of her services and necessities.

We just want the best for our little girl and an eye gaze communication device would open up a whole new world for her. Every little bit gets us closer to our goal. Since we do not know the exact cost (until everything goes through insurance) any extra money received will go towards other equipment and medical costs.

Thank you for supporting our little squish. ♥️