A Day in the Life of a Family Living with SLC13A5 – Windisch Family

Nicole and Rich are the parents of Meredith (2-years-old), who has SLC13A5 Epilepsy. James (16-years-old) and Matthew (12-years-old) are Meredith’s older brothers.

A Day in the Life

Meredith is our little chickadee, as her daddy calls her. She is always smiling and ready to go. She loves going on adventures no matter how big or small.

Like most children with SLC13A5 Epilepsy, Meredith cannot walk or talk, but she knows exactly how to get her point across. For someone who cannot talk, Meredith is very bossy! She has quite the personality, a head full of curls, and she pays attention to everything going on around her. Meredith loves to play and laugh, especially with her brothers.

I am fortunate to be a stay at home mom; Meredith and I get to spend our days together. Our morning begins when Meredith wakes up and then yells at me to wake up. Meredith sleeps in our bedroom in a big girl twin bed with extra high bed rails. She’ll sit herself up and point to the rails, asking for me to put them down and take her out.

I’ll take off her owlet, which is a wireless sock that monitors her oxygen and heart rate while she sleeps, and I’ll charge it in for the next time she sleeps. Then we go to the bathroom so she can use the potty. Amazingly, Meredith is potty trained! I also brush her teeth. After the bathroom, we walk and feed our dog, Daisy.

Time for morning meds! Meredith takes her meds like a champ, probably because she’s been doing so since birth. To her, meds are a normal part of her day, the same as eating. Next, it’s time for breakfast. Meredith’s usual is eggs with avocados and blueberries. Sometimes she will have oatmeal and a fruit pouch.

I then get Meredith dressed. Meredith loves clothes! She picks out her own clothes and refuses to put on what I want her to wear. Sometimes we have to go through every outfit before she can decide what she is going to wear.

Meredith has different therapies scheduled, depending on the day of the week. She has occupational therapy, physical therapy, aquatic therapy, speech therapy and special instruction therapy. Since this pandemic began, therapy is done via Zoom, which is difficult for us. Meredith’s therapists are all amazing and accommodating, but it is not the same as in-person visits. Meredith has also done CME (Cuevas Medek Exercise) therapy. Unfortunately, she wasn’t far enough along in CME to be able to continue treatment via Zoom. Hopefully, she will be able to resume again soon.

After therapy, Meredith has a drink and a snack. Then it’s back to the bathroom, one of the many times she goes a day. She will practice with either her eye gazing speech device, her stander, or her gait trainer. Then it’s usually nap time. When she wakes up, Meredith eats her lunch. Like many two-year old’s, she almost always wants mac and cheese.

When she’s done with lunch, Meredith usually has more therapy. We make sure to always fit in playtime with her brothers, her Daddy, and me. This is when Meredith is happiest. She laughs and plays, lighting up everyone’s day!

Time for dinner! Meredith loves to help us cook. If she had her way, it would be more mac and cheese!

After dinner, we go for a walk and play some more. Meredith loves to watch Monsters, Inc. and Vampirina. She especially loves it when we watch and sing the theme songs with her, because it means everyone is participating and being happy together.

Bath time! Bath time is Meredith’s favorite. She LOVES the water and getting to play with all her bath toys. Then it’s time for night meds. We brush her teeth and read her a story. Meredith still falls asleep in her Mommy’s arms. I then lay her in her bed for the night.

Throughout the day I am on the phone and the computer, mostly trying to handle Meredith’s doctors, insurance denials, appeals, and payments. I’m also volunteering with TESS Research Foundation. My husband Rich is an essential worker. He works a lot of hours every week but spends time with the kids as much as he can. Meredith loves time with her Daddy! We also have two older boys, James and Matthew, who were “home schooled” due to COVID-19, from March through June. They are the best big brothers a child could have. Meredith loves her time with them, and they love their time with her.

Diagnosis

It took 2 months for Meredith to be diagnosed with SLC13A5 Epilepsy. We are extremely fortunate to live within 5 minutes of a great medical center. Meredith was not born there but she was transferred there 24 hours after her birth.

After days of testing to rule out infection or brain abnormality, genetic doctors were brought in. They did a seizure panel blood test. Thanks to TESS Research Foundation, testing for SLC13A5 Epilepsy was listed on the panel. Meredith’s blood was sent to the Mayo clinic in Minnesota, and then eight weeks later we received the results.

We were shocked to receive the diagnosis. Our shock was mostly because I was considered a high-risk pregnancy due to Matthew being born a preemie. Because I was high-risk, I was being monitored every 2 weeks via ultrasounds and blood work. We were always told everything looks normal and that she was healthy and growing well. We don’t have anyone on either side of our families affected by this condition. We had no idea what it was or what it meant for our baby girl’s future.

Fears and Challenges

Our biggest fear is losing Meredith. SUDEP (Sudden Unexplained Death in Epilepsy) is real and scary. We have the owlet monitor and a video monitor, but we always worry and are constantly checking on her. We never leave her alone. It is scary that so much of SLC13A5 Epilepsy is unknown, and, because it’s so rare, we really don’t know what the future holds for Meredith. When some of the best doctors in the country look at you and tell you that they don’t have answers, it’s a very scary moment. Luckily, they have not given up and there are many doctors and researchers working hard every day to find a cure for Meredith and everyone suffering from SLC13A5 Epilepsy.

Unfortunately, almost all everyday tasks and activities create somewhat of a challenge. Meredith can’t be left alone for even one minute because a seizure could start at any time. She prefers that I hold her most of the time, which is difficult at 30 lbs! Everywhere we go we have to make sure there’s a hospital close by, in case Meredith needs the emergency room. She has a lot of equipment and medicine that we always take with us. We do our best to understand her, but it can be challenging at times. This frustrates her.

Still, Meredith’s determination and drive gives us so much hope for her future. No matter what, she is always smiling. She is the most loving, caring girl, always wanting to share and give hugs, kisses, and cuddles. She has the best sense of humor and will laugh hysterically until we’re all laughing. She is very tough and doesn’t give up. Her smile can light up a room. Between her strength and the loving bond she has with her brothers, we know her future will be great. Her future might not be what we thought or hoped it would be when we were pregnant, but she will still have a good life, just adjusted.

TESS Research Foundation

The TESS Research Foundation community has literally been my life saver. Everyone is so welcoming, caring, and open to sharing their stories and struggles. I have learned so much from all the moms that I would never have known otherwise. It means so much to me to have people that understand exactly what we’re going through, who are willing to talk about it together. We are so thankful for this amazing group of families. I have been helping TESS Research Foundation for almost 2 years; it is the most rewarding work that I’ve done. As much as I hate the reason we are a part of this community, I am extremely happy to know everyone and get through this together.

The Windisch Family

Meredith is the only girl on both sides of our family. She was bound to be the princess. Throw in SLC13A5 Epilepsy and she is beyond the family princess. Every summer for a week, we vacation in Wildwood, NJ with Rich’s parents and younger brother. For a couple of nights, we go to the boardwalk, which has many amusement park rides.

Even though Meredith was tall enough to go on the rides, she was still unable to ride them, due to her extremely low muscle tone. She just can’t hold herself up. Most of the kiddie rides also don’t allow us to go on with her, but there was one ride that did. It had these flying pink elephants that would light up and spin in the air. Miss Princess loves both pink and elephants; she sleeps with a pink elephant every night. When she saw those elephants, she got so excited. Four adults, three teenagers, and countless tickets later, we had each been on that ride with her multiple times (the worker let her stay in the elephant while we kept switching). We did this until the boardwalk closed! Meredith was so happy, smiling and clapping every time the elephant circled.

Our days are long, exhausting, and filled with constant anxiety but we would not trade them for anything. The worst part is that time is flying by. We can’t believe Meredith is already two and a half! Her days are tough, but she never lets that stop her happiness and enjoyment. She is full of love and shares it with everyone she meets. We love our little Mer Bear!