19 May A Day in the Life of a Family Living with SLC13A5 – Prestine/Pae Family
Erika and Andrew are the parents of Ellie, who has SLC13A5 Deficiency.
Our days with Ellie (who is almost the big 4!) are typically filled with a lot of love, patience, and laughter. We like to call her our little Sour Patch kid. She is full of spunk, stubbornness, and mischievousness, but she is also so loving, social, and sweet. She, like many of the individuals with SLC13A5 Deficiency, cannot walk on her own and has limited speech. This does not stop her from being constantly on the move or from bossing us around.
The start of our day begins at the crack of dawn (between 5:30-6:30 am) with her tapping us on the head, blowing kisses, and yelling her names for us (“ba”). The best part is we no longer use an alarm clock. She still sleeps in our room with her crib right next to our bed. It isn’t the most ideal sleeping arrangement, but it has saved her life on countless occasions.
Once we are up, she eats breakfast and has to hear her favorite YouTube songs. She insists that we do the dances or motions to the songs. If we don’t, she’ll usually grab our hands or point our feet to make us do it. After she is finished, I help her get dressed. She chooses her outfit by herself and is very vocal about what she wants (regardless of if Mom wants it to match). Since she has low muscle tone, it is difficult for her to coordinate all the movements it takes to put on each piece, but she can help with simple steps.
With Andrew and I working full-time, Ellie attends a medical daycare. We feel extremely fortunate to have this type of service available to us, as there is a relatively large nursing shortage in Pennsylvania. On really good days, she is dropped off at around 6:45 am. The staff there are like family. They truly love her, almost as much as we do, and they take great care of her. They administer her morning medications, monitor for seizures, and are able to give her emergency medication and/or oxygen when a seizure occurs.
Throughout the week, Ellie receives physical therapy, occupational therapy, and speech therapy. Physical therapy typically consists of her learning how to appropriately use her gait trainer, as she has the tendency to use it as a scooter. Occupational therapy works on her fine/gross motor skills and on teaching her how to feed herself. She is now able to drink from a straw and is gaining the skills to use utensils.
Speech therapy has had the most impact on Ellie’s development and our lives. Her speech therapist worked extremely hard to give us the greatest gift you can give to a primarily non-verbal child and their parents: a VOICE. Ellie is in the process of receiving an eye gaze communication device, with the option of using touch. She has completely exceeded all expectations and it has motivated her to use her voice, both with and without the device. In typical Ellie fashion, her most utilized words are “no” and “stop”.
We usually get home around 4:15 pm. From there, it’s play time while one of us makes dinner. She enjoys playing in her kitchen and listening to another round of children’s songs. We then eat dinner and give Ellie her medications. We are now down to two medications that are easily concealed in peanut butter and whipped cream. It took almost 4 years to find this sweet elixir of success! Following dinner, it’s bath time. It takes about an hour because she is like a fish. She loves to be in the water because it allows her to move her body freely. We are usually ready for bed by 7, after reading at least 6 books, all of which she must pick out herself. She is a great sleeper and sleeps through the night.
It took 3 months before we had Ellie’s diagnosis. Prior to that, the neurologist attributed her seizures to blood on her brain during her delivery (she was vacuumed out). After several weeks in and out of the Pediatric Intensive Care Unit and after witnessing our newborn baby have countless grand mal seizures, her neurologist finally completed the epilepsy gene panel.
Although we now feel extremely lucky to have received the diagnosis so early on, this was not always the case. As parents, we went through the seven stages of grief. We mourned the life we had envisioned for Ellie, knowing the struggle she would have to endure for her entire life. It was not until the last year that I truly accepted the diagnosis for what it is: a silver lining. Although we obviously never wanted this for Ellie, it has given us so much more than it has taken. We cherish the little moments, celebrate the littlest of victories, and have become better parents and advocates than we ever expected. She has shown us the strength and tenacity we need to fight through the suffering that this disorder can cause.
For those looking in from the outside, we know that our life may seem sad, but it is truly full of so much love and happiness. Do we have a lot of fears and worry constantly about Ellie and what her life will look like? Every single day. Is there a lot more hope than there ever was? ABSOLUTELY. With the support of the TESS community, especially Kim Nye (our fearless leader and my personal role model), our family, friends, Ellie’s neurologist, and nursing staff, we know that nothing will stand in her way of accomplishing all her hopes and dreams. We are so incredibly thankful and lucky.