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!

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

Maria is the mother of Alice (5-years-old), who has SLC13A5 Deficiency. Maria and Alice live in Luxembourg, with Alice’s father, sister, and maternal grandmother.

A Day in the Life

Alice is our rare pearl – this is what we call her, since SLC13A5 Deficiency is so rare. Even if she can’t walk or talk, she reaches milestones at her own rhythm and she surprises us every day. As imperfect as she is, she is in perfect in our eyes, with her golden locks and green eyes.

Days with Alice are marathons. We wake her up every day around 8 am and get her prepared for school. She is a very smiling and happy little girl. As soon as she opens her eyes, she is smiling. We give her breakfast and her anti-epileptics (we start by feeding her by mouth, but if she is not eating enough, we finish her breakfast via the g-tube). We then brush her teeth and dress her up for school.

We load the car with her motilo (which helps her move around) as well as her on-size chair and we drop her off at school. Since last September, Alice has been attending a special school and she has a full schedule. She has daily therapies at school (physiotherapy, occupational therapy, speech therapy, swimming, etc.) and this helps us a lot, because then we don’t have to run her from therapist to therapist, which is what we used to do before she started this school.

Alice on her motilo

Alice loves going to school and she loves all her therapists. After lunch at school, we usually pick her up (at around 1:30pm) to take her home for a nap. She usually sleeps for at least an hour.

Around 3 pm, we give her an afternoon snack with her anti-epileptics. We take her for a walk for an hour, and then we put her in the motilo, and she runs and plays with us for another one-and-a-half to two hours.

She usually has dinner around 7 pm (as with all meals, we start by feeding her by mouth and then via g-tube). We brush her teeth and we do calm activities before giving her evening anti-epileptic drugs, and we get her to bed between 8:30-9:00 pm.

Diagnosis

Alice is a little girl who is in constant movement and needs our attention all the time. After her birth and because of her health difficulties, one of her grandmas moved in with us to help us take care of Alice. Her daddy works all-day long and her mommy works part-time (only in the mornings, when Alice goes to school). We try to organise our lives around Alice, but at the same time we try to take good care of our older daughter (7-years old) who also needs us.

Since we discovered Cuevas Medek Therapy almost 3 years ago, we regularly go abroad to France (every 3-4 months) to do Medek intensive training sessions. While we’re there, her physiotherapist teaches us exercises that we can do at home, and we try to do those exercises consistently. Medek therapy has helped Alice progress a lot.

Besides the daily routine, there are also regular medical appointments. Alice is cared for by two amazing neurologists: one in Luxembourg where we live, and the other one in Strasbourg, in France. We travel regularly to France to see her French neurologist, who helped with getting Alice’s seizures under control, two years ago. Some of the other doctors that we regularly see include: a great doctor who specialises in rare diseases for teeth, the doctor who guides us with her nutrition, the pediatric surgeon who changes her g-tube, and more.

Fears and Challenges

We will always remember that, in her second day of life, we were told by one of the PICU doctors to be prepared for the worst, even for her death. She was seizing all the time and it was difficult for doctors to control her seizures.

It has been a long road to get a diagnosis. It took us 19 months to get the answer and be settled with it. Being in a small country (Luxembourg), lots of the tests that have been performed are then sent abroad (to France, Germany and Belgium) for analysis. The answer finally came from Brussels, Belgium.

We felt relieved to have a diagnosis and then lost to see how rare this was. We now had the answer to our problem, but we did not know how to fix this problem.

Since Alice’s birth, the challenges have been constant and ever-changing. We have battled to get her seizures under-control (two years ago, she was having more than 200 seizures per day). We have battled to help her sleep through the night (until 8 months ago, she could wake up 15-20 times per night). Now, we battle for her to walk. We dream of the moment when she speaks, and achieving this part is the biggest challenge right now.

There is also always a fear of SUDEP. I truly hope and pray that Alice will be spared from this.

As of late, hearing the encouraging developments from the researchers is the best news in our life since Alice’s birth. Now, we can dare to dream that one day a cure could be found, and that that day may be sooner than we could have ever imagined.

TESS Research Foundation

At first, TESS Research Foundation gave us the opportunity to better understand Alice’s diagnosis, as we felt lost and alone when we first received it. It was also an opportunity to connect to other SLC13A5 families and realise that we all face similar issues and have shared experiences, and that together we could help ameliorate our little ones’ lives. Now, TESS Research Foundation means battling together to find a cure for our amazing children.

The Geslin Family

Alice’s big sister is very proud of Alice and celebrates her achievements. It is very funny sometimes how things are seen through the eyes of a child. One day, when we were out with both girls, Alice was in her motilo and our older daughter encountered one her best friends in a shop. Our older daughter told her friend, “She is my sister, she is neither walking nor taking and we feed her through a hole in her stomach.” The friend was like, “Whoa, how is this happening!” That is how it is to have a superhero sister. 🙂

Life with Alice is not how we had imagined/planned for when we were waiting for our second child; but we adapt, or we at least try to make the best of everything, given the circumstances.

Alice is the most smiling little girl in the world. She is happy and gives us lots of love. She is a blessing and we let her know this every day. She might be missing things to be a typical child, but there is for sure one thing she will never miss: love. Alice is so loved by her big sister, her mommy, her daddy, her granny, all her family, and her therapists.

Alice and her grandma

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.

Shopping for Kids of All Abilities

By: Kim Nye – Mom to four great kids, ages 6 to 15.

The holidays are here!  It can feel difficult to shop for a child with developmental delays.  My friends and family are always asking for gift ideas, especially for Tessa (15) and Colton (6) who have SLC13A5 Deficiency.  To make it a little easier for your friends and families, I thought I would share some links to toys and products that work well for our family.

I am always tempted to buy educational toys to help Tessa and Colton “catch up,” but I try to remember that they are kids first and developmentally delayed second.  The goal should be to have fun!  If you have favorite toys that are not listed here, I would love for you to share them in the comments or in the replies!


1. American Girl Dolls and Accessories

American Girl Dolls are expensive, no question, but I love that the company makes everything for their dolls, from braces to wheelchairs to diabetes kits to service dogs.  Kids can have a doll that is just like them.  Tessa has had a Bitty Baby American Girl Doll, named Alison, since she was a little baby herself.  She loved to dress her, feed her, and put her to bed.  Added bonus: When Tessa has an EEG or a blood test, we bring Alison along so that she can get an EEG or blood test as well.  Sometimes, we just need a buddy to go through it with us.

Tessa and Alison, getting EEGs together.


2. Pipsticks Sticker Club

Our family is sticker obsessed, so it’s great when Pipsticks sends cute stickers straight to our house each month.  My middle-schooler decorates her school notebooks with stickers, Colton likes stickers as rewards, and Tessa sticks them indiscriminately on everything (😂). When I’m really knocking it out of the park (which is rare), I decorate little notes with stickers, and then slip the notes into my kids’ lunchboxes.


3. Custom Name Stamp

Colton cannot write his name yet, so he likes to use a self-inking “Colton” name stamp.  He is so proud when he sees his name on paper!


4. Highlights Magazine

Kids love to receive mail!  Highlights makes magazines for different ages and levels of understanding.  Tessa likes Highlights’ High Five magazine.  She also likes People Magazine, but I feel like more of a responsible parent by suggesting Highlights (hah!).


5. Play-Doh, Putty, Slime, and More

Sensory toys are a big hit with my kids. (Warning: sensory toys are often messy toys!)  Homemade slime was all the rage about a year ago, so you should be able to enlist your local elementary or middle school kids to help create this present.  For Play-Doh, I would recommend checking out their fun kits.

When it comes to Putty, you can buy therapy putty or Aaron’s Thinking putty. My kids prefer Aaron’s because it comes in all sorts of colors (including glow in the dark).

Kinetic sand is so fun to touch and squish! Even I find myself playing with it when the kids bring it out.


6. Kiwi Co Crates

Kiwi Co Crates are another subscription that arrives in the mail.  Kiwi Co makes different craft kits for different interests and ability levels.  Colton really enjoys the Panda Crate and the Koala Crate. In the picture below, Colton’s sisters helped him make a dino visor from the Koala Crate.


7. Magna Tiles

Magna Tiles are blocks that stick together with the help of magnets.  There were a few years when my girls were all obsessed with Magna Tiles.  I used to find Magna Tile houses and towers in their rooms all the time.


8. Stomp Rockets

Stomp Rockets are fun for kids of all ages.  Even when Colton was too young to stomp, he loved watching the rockets fly through the air.


9. Full Support Swing

Colton had trouble keeping his head up in a bucket swing, so we bought him one with a high back and plenty of support. With this, he could feel the joy of swinging without having to work so hard.

 


10. Mozart Magic Cube

This musical cube was one of Colton’s favorite toys when he was learning to sit upright.


11. Boogie Board Writing Tablet

Tessa loves to color.  The Boogie Board is a good option for when you don’t want the mess.  It comes with a stylus, and the entire board erases with the single push of a button.


12. Books

My girls are avid bookworms; Colton, not so much.  However, books that have real pictures and story-lines about real life topics are the easiest for him to grasp.  We like this series about Lola the Dog:

Colton also likes books by Mo Willems because his sister Maggie reads them to him, and she does all the voices 🙂


Happy Shopping!

-❤️ Kim

P.S.  This is not a sponsored post, just a list of some of our family’s favorites.

P.P.S.  If you are ordering through Amazon, we encourage you to go to smile.amazon.com and choose TESS Research Foundation as your charity. Amazon will donate 0.5% of every purchase to TESS, at no additional cost to you.

Three Fun Crafts For Everyone

By: Lily N.

Hi my name is Lily, and I am 12 years old. Two of my siblings have SLC13A5 Deficiency, which means they have seizures and a harder time learning.

Since my siblings all have different ability levels, we can have a hard time finding crafts to do that we all enjoy. Luckily, there are crafts that I’ve learned that we can all have fun doing together.

Just a friendly safety reminder – when handling scissors and hot glue make sure to be cautious. They can hurt you if you use them incorrectly, so have an adult help you when handling them.

Now, here are my three fun crafts:

1. Tape Painting:

While we all love to paint, we all enjoy different styles and variations of painting. This is because of our different ages and abilities.

Maggie and I love to do real acrylic painting, while Colton loves finger painting and Tessa loves watercolors. Here is a fun, new style of painting that we all loved!

Materials:

  • Washi Tape or Duct Tape
  • Canvas – any size
  • Paint
  • Paintbrush
  • Water Glass

Instructions:

Put washi tape or duct tape on a canvas in the desired shape. Colton put the tape in the shape of his name, and Maggie did flowers. They both turned out really cool. Then, you use any type of paint (we used watercolors) to paint the WHOLE canvas. In order for the shape to show up properly, you need to cover all the edges of the tape with the paint. Colton had so much fun, and unlike with some of the crafts that he does with me, he never got bored. His favorite part was dipping the paintbrush in the water, then on the paint, then on the canvas.

2. Bubble Canvas:

Maggie and I did this craft and we had a lot of fun! Tessa and Colton didn’t do the craft, but they sure loved playing with the bubbles!

Materials:

  • Bubbles (if you don’t have regular bubbles, you can make bubbles out of dish soap, but you have to be careful because dish soap can kill plants and grass)
  • Food dye
  • Straws
  • A canvas
  • Acrylic paint (the acrylic paint should be the same color as the food dye… or at least a similar color)

Instructions:

Take the dish soap and separate it into different bowls. The number of bowls you use depends on how many different colors you want. We wanted two colors so we separated the bubbles into two different bowls. Add the food dye and acrylic paint into the bowls (you can always add more, so only add a little at first). Then stir until the liquid is even. Dip your straw into the liquid and blow through the straw directly above the canvas. It was hard at first, but we got the hang of it.

The thing I love about this project is that it is mostly bubble liquid (which is mainly soap) so if we messed up, we could just use a baby wipe to rub off the bubbles and try again. This is a messy craft, so I would do it outside.

3. Rainbow Plates:

Tessa and I did this one morning while Maggie was at a friend’s house, and we had so much fun! This craft is great for two people because you can each use half of a plate, and then you’re not wasting the other half.

Materials:

  • One white paper plate
  • Cotton balls
  • Markers and crayons and dot art stampers
  • Hot glue gun
  • Hot glue stick(s)

Instructions:

Cut the white paper plate in half and then cut a semicircle out of the straight side. Your finished cut-out should look like an arch/rainbow. Then start coloring in the colors of the rainbow. Higher ability level kids can put the colors in order in straight, pretty lines or, like Tessa, you can scribble wherever you want. Once you finish coloring your rainbow, use hot glue to add the cotton balls on the ends of the arch. Then, your masterpiece is done! You can hang it up on the wall, use as room decor, or even give it to someone as a present! I loved making this craft with Tessa, and I can’t wait to do it with Maggie and Colton!

There you have it! Three easy crafts that I love doing with all my siblings. Thank you for reading this blog post! I had a lot of fun making it!

❤️ Lily

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

Prasad and Anu are the parents of Sanjitha, their daughter, and Abhinav, their son, both of whom have SLC13A5.

By 6:00 am, we start the process of getting our kids ready for school. We help them go to the restroom and brush their hair. They like to pick out their own clothes, so we help them put on what they choose.

For breakfast, we help them eat and take their medicine. One of our kids loves Indian food while the other loves American food. After they’ve eaten, we take them over to each of their school buses.

Both come back home by 4 pm, which is when they do home therapy. Each of our kids receives 1 hour of activity, and each of us takes care of a kid for that hour.

When they’re done, we cook dinner, helping them to eat and giving them their third dose of their daily medicines. The schools give them their second dose, along with their lunch. Afterwards, we usually watch an Indian movie or listen to a kids’ songs together, and that gives our kids a chance to play and dance around some. They both go to bed by 9 pm.

Before 2013, children with SLC13A5 were put in the undiagnosed disease group. As one of the first families in the TESS Foundation group to receive a diagnosis, we had been waiting around 7 years. The doctor told us that there was another family with a child that might be like ours, saying that they had found a gene, tested by GeneDx. Because of that we were able to track down Tessa in the NIH and found that she was exhibiting similar symptoms to Sanjitha and Abhinav. That was when SLC13A5 was officially discovered.

We were relieved to find out, because before that we had felt clueless. Our family didn’t know what the root cause was and it really troubled us. We had traveled to the Mayo Clinic, the Cleveland Clinic and to India, searching for a diagnosis.

Some of the most difficult parts of SLC13A5 Deficiency are the finances required to take care our children’s needs, and the challenges of being caregivers day-to-day. We’re worried about what will happen after we’re gone, since there won’t be people to take care of them. Because of their medical conditions, we don’t feel that we could go back to India, and America still feels foreign. Through the TESS Foundation, we hope that we can connect with more families from Europe and Asia.

In some ways, we’re kind of like any other family, working hard, day-to-day. It makes me happy to hear them call me Dad, or when they give me hugs and kisses. There was one time that we had to call 911 and the paramedic service came to our house, and as they were putting the medication through an IV, my kid started laughing at the sounds that the machines were making; I guess it sounded like a toy. Because of that, the thing I remember most from that experience was a big smile, and the sense of gratitude that we were all here, together.

The TESS community kind of feels like my family; in a way, we’re all literally genetically connected, through the SLC13A5 gene. After meeting Kim Nye and the TESS Foundation, we feel more hopeful. We’re looking into gene therapy and we hope to find a solution. Because of the Foundation, we think that people will think more about SLC13A5, and that more progress will be made.

The Windisch Family’s Experience with SLC13A5 Deficiency

by Nicole Windisch

Our daughter Meredith Grace was born on January 10, 2018. Within 12 hours, while Meredith was in the nursery, a nurse noticed she was losing oxygen. She was immediately taken to the NICU and the doctors determined she was having multiple electrical seizures. For the next several hours, the seizures continued and progressively got worse (turning into tonic clonic seizures). The doctors could not determine what was causing them. Meredith was born at an excellent hospital; however, it was only a level 3 NICU and Meredith needed more testing and care than they could provide.

At 1-day old Meredith was transferred to a level 4 NICU. While there, she had good days and bad. Some days she would seize uncontrollably, causing her oxygen to drop. Other days the medicine would help, and she would be ok. While in the NICU, Meredith endured countless tests and procedures always with negative results. After two weeks, Meredith was stable enough to finally come home. The doctors prescribed a mixture of different medications that were controlling her seizures, but they still did not know why she was suffering through this.

The doctors recommended genetic testing. We began the process before leaving the NICU. After two months, we finally received an answer. Meredith has a rare genetic condition (SLC13A5). As it turns out, my husband and I are both carriers. We tried to research this condition; however, we were unable to find much information due to its rarity. The answer we received only created more questions. There is no definitive treatment path and no definitive understanding of the complications associated with this condition.

Luckily, we found The Tess Foundation, Kim Nye and her family, and other families with children that have this same condition. They have been so helpful in providing us support, information, and answers to our many questions. Without Kim’s efforts, we would not know what is causing Meredith’s seizures or any means of treating them. Thank you for all your hard work! I know one day a cure will be found to help our children!

Meredith is now 15 months old. Her seizures are more controlled, but continue to occur weekly, sometimes more often. She has already been hospitalized four times for up to a week at a time. Unfortunately, Meredith is developmentally delayed, but she works hard through PT and OT and is making progress daily. She is a very happy little girl, full of personality, always smiling, and she lights up every room she enters. She loves to play with her two older brothers, James and Matthew (who don’t have the condition), and our dog Daisy. We want to thank everyone for their support and we know one day there will be a cure to help all the kids defeat this condition.

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

Maureen Grover and her husband, Hans, have three children, Landon, Brayden, and Alaina. Both Brayden and Alaina have SLC13A5 Deficiency, and the severe epilepsy and developmental delays that come with that.  Here is a glimpse of a day in the life of a family living with SLC13A5.

During the summer, my husband and I wake up every morning around 7:30-8:00 am. We give Brayden (11 years old) and Alaina (8) their breakfast and medicine. Then Alaina receives breathing treatments to help with her hypotonia and recurring pneumonia.

In the afternoon, we give them their medicine with their lunch. Brayden also has to watch Spongebob or the world will end (lol), while Alaina is just happy as long as we hang out with her. We might barbecue and put Brayden in the pool, and then we give them more medicine with dinner, putting the two to bed around 7:30-8:00 pm.

The 7-1-7 have become cornerstones of our day, as we have to deliver their medicines within an hour of these times. Alaina hasn’t had pneumonia since they started their breathing treatments, so those seem to be helping a lot. We have so many machines in our house that it sort of looks like a hospital room.

Brayden wasn’t diagnosed with SLC13A5 until he was 8, around 2013. Before that, we went everywhere to find answers. Brayden and Alaina’s symptoms and development are not exactly the same, so we didn’t have a clear box of symptoms to treat or diagnose. Looking back, it’s all become a blur of imaging, testing, and trips to Boston Children’s for genome testing.

The diagnosis itself was bittersweet. There was the relief in finally knowing, but it was also upsetting to learn that there was no cure or proven treatment.

Knowing of other terrifying diseases in which there’s regression, the prognosis we received was, in some ways, not as bad as I had feared. Even so, having children with these kinds of diseases is terrifying. I don’t talk about this much, but when you have kids like our kids, there’s always the fear of how long you have with them. Seeing kids like ours in their 20s does give me hope.

I’m afraid of losing our kids early. I’m afraid that there’ll be nobody to care for them later on, if we aren’t there. We have our eldest, Landon, who would never want anything to happen to his brother or sister. But it’s hard to tell someone who is just starting his life that he needs to be responsible for two special needs adults.

My children don’t talk, so I’m afraid that someone could hurt them, and I just wouldn’t know because they couldn’t tell me. We’ve learned to trust their caretakers, but it takes time to build that trust. I know that no one loves them like my family does.

Since the diagnosis, we now have people working on their disorder. Before that, we were just treating the symptoms and hoping that someday there would be a specific treatment.

Brayden is different now after being diagnosed and receiving treatment. Alaina is still like a baby, but Brayden can stand now and recently took a step on his own! It almost feels like he is just missing something. Like we just need to get it somehow and then he will be okay. He is so close to being able to stand and walk like other kids. Whether by science or by his will alone, I have hope that he’ll be able to do so much in the future.

Being a part of the SLC13A5 community means having people who know what you’re going through, having people who have shared your experiences. Even though other parents may listen, they still don’t fully understand.

You have all of these plans for your children and you kind of mourn for those futures that you imagined. Other parents will look at you as though you’re selfish, like “You should just be grateful that you still have your child.” But I still imagined something for my children, and I grieve that loss.

As is the case with rare diseases, I’ll give people this long gene name–SLC13A5– and they’re usually like, “What’s that?” When I went to an epilepsy group meeting, everyone felt bad for me and sort of made me feel like we were their worst case scenario. That was the opposite of what I was looking for!

Having a community is so important. I post in the private SLC13A5 Family Facebook group to get people talking and because it feels like a family to me, where people truly understand our journey.  I’m so grateful for all of you in our TESS community.

Different – A Memoir by Lily About Her Sister, Tessa

Hi my name is Lily and I am 11 years old. My siblings, Tessa and Colton both have SLC13A5 Deficiency, which is more commonly known as seizures. I love both my siblings and only hope for the best for them and other people like them. I wrote this memoir in my 5th grade class, and I am excited to share it as my first TESS Research blog post:

At first, it was just Tessa and I. We played with each other with our princesses and Barbie dolls like any little girl did at the age of 2 or 5. I loved my older sister and I still do, even though she is disabled. My sister Tessa was born with SLC13A5. It is more commonly known as seizures. Tessa is the most brave, sweet, and fun loving person – but sometimes people don’t see that.

Sometimes, people treated her unfairly when they came over for playdates with me. They would say, “Can we go play outside?” To get away from Tessa. Also, some girls would say, “Why does she have seizures, is something wrong with her?” People don’t seem to to understand that what matters is on the inside, not the out. Tessa on the outside is a 5 foot, 14 year old. She has short brown hair and hazel brown eyes. Of course, what people notice first is the fact that she has seizures – around 100 a day. Also, they notice that she says very few words. Some words she can say are yes, no, mama, daddy, Lily, more, all done. Tessa is a normal 14 year old trapped inside a broken and sick body. Really, she wants to be like everyone else and have fun with friends and goof around.

I love Tessa and of course I, like most people, want my siblings to have a great life and feel appreciated and loved. So, when people treat Tessa unfairly I feel sad. I feel bad that I have such an excellent life when Tessa is stuck struggling with her disabilities. I used to feel bad that I have such amazing friends and supporters and Tessa doesn’t. I used to feel embarrassed that I had a disabled sister, because she is different. Now I see that different is good! If everyone was the same then there would be no fun. Picture a world when there is the same colored houses on every street. Every house has the same flowers, trees, interior, and etc. Now think of that but instead of houses, they were people. That world would be boring and no fun. With our differences we complement each other.

Tessa has made me the person I am today. When Tessa was in kindergarten, she was learning how to read. I ended up also learning to read and I was already in 1st grade reading level in kindergarten thanks to her. Also, having 2 disabled siblings has helped make me very responsible, kind, considerate, and including. I babysit my disabled brother and I help Tessa with her homework. I make sure to give people second chances and not judge a person by his/her appearance. Not only has Tessa helped me learn all these amazing life skills, she has learned them too!

Tessa is so brave. At the age of 3 or 4 she started having more and more tonic clonic seizures (seizures that lasted a minute or more). She would ride away in the white, red, and blue ambulance with the sirens wailing and flashing blinding lights at me. She would also be brave when she took the disgusting medicine she had to take daily to keep her from having even more seizures. Not only is Tessa brave, she is also super sweet. In elementary school Tessa would bake treats like brownies, cupcakes, and rice crispies. She would then bring them home and share them with my mom and I. Also, when Tessa got a toy that my younger sister wanted she would be very nice and share the toy with Maggie. Tessa is just like any other girl. She is obsessed with YouTube and loves playing on her iPad. Sometimes Tessa and I will make slime together and she loves mixing things into it. She also loves to dance. This year she went to the Hillview dance and she had so much fun. She also likes to go to school and hang out with other disabled girls like her.

Tessa is the bravest, sweetest, prettiest, and most fun person! If only people could see her amazing heart, not her epilepsy symptoms and disabilities. I hope one day kids realize that Tessa is just as awesome as everyone else.

The Nye Family’s Experience with Citrate Transporter Disorders and SLC13A5

by Kim Nye

My husband, Zach, and I live in Menlo Park, California with our four kids. Two of our four children have SLC13A5 mutations.

Growing up, adversity was a word we were lucky enough to not know. My husband and I went to high school together and then college together. We were married after we graduated from college, and headed to England for graduate school. While living in England, we found out we were expecting a baby girl. After a relatively easy and uncomplicated pregnancy, we welcomed our beautiful daughter Tessa into the world on December 22, 2003. I was 23 years old.

As first-time parents, we felt fairly clueless about normal newborn behavior, but it was clear to us that something might be wrong with Tessa when she turned blue during her first bath. She was also having trouble feeding. She would latch on, but could not coordinate breathing and eating simultaneously. She also seemed too strong for a newborn. By the time she was 24 hours old, she was in the NICU and arching and desaturating regularly. Tessa was having seizures.

All of Tessa’s labs and tests came back normal. There were no signs of infection or structural damage. Her brain MRI was normal. Doctors thought that perhaps she had a slight stroke or birth trauma, but they thought her prognosis was great. We were relieved and hopeful, but we could never quite get Tessa’s seizures under control. Doctors prescribed Phenobarbital, then added in Phenytoin. Because Tessa’s seizures started in her first day of life, we started Pyridoxine. Soon we were on a rollercoaster of seizures (focal, generalized, complex partial, tonic clonic, myoclonic) and seizure medications (Tegretol, Lamictal, Depakote, Topamax, Keppra, Felbatol… The list went on and on).

Tessa’s development seemed on track for her first six months, but then her gross and fine motor skills started to fall behind (sitting was especially hard for her to master). Tessa started speaking at a typical age, but then her speech started to fall behind too. It was absolutely heartbreaking for us to watch as our sweet and vibrant daughter’s health and development seemed to be slipping away. She seemed so close to being a typical baby, and yet we were constantly rushing to the ER after a large seizure. Our days were filled with endless OT, PT and Speech Therapy appointments. We had PET scans, MEG scans, more MRIs to see if surgery was an option. Tessa had a Vagal Nerve Stimulator implanted. We tried the Ketogenic Diet. We could not find that magic bullet.

We had a full genetic work up, and again everything seemed normal. There was no history of epilepsy or developmental problems on either side of our families. Our team thought that if this was genetic, it was likely a de novo genetic mutation. In other words, our chance of having another child with a seizure disorder was incredibly unlikely.

And our geneticists seemed to be right. We moved back to California, and in 2007 and 2009, we welcomed happy, healthy little girls into our family. We continued to stay up-to-date on the latest genetic tests, and we stumbled on a combination of medications (Felbatol and Diamox) that stopped Tessa’s larger seizures. Tessa continued to have hundreds of myoclonic jerks daily and her speech was severely delayed, but she was stable enough to go to school and run around with her sisters. As her receptive language is very strong, we bought her an Augmentative Communication Device so that she could boss us around.

We decided to have one more child. After another uneventful pregnancy, we welcomed our first baby boy! Colton was born on August 26, 2013. He looked just perfect. My husband and I thought we were the luckiest people in the world. We were now experienced parents in our mid-thirties, fully settled with a house and careers. And we got to have the big family we always hoped for. The delivery had gone well without complication, and Colton was doing all the things babies do: nursing, crying, sleeping. Our family was complete.

But at some point in the middle of that first night, our world came crashing down. Colton would latch on to the breast but not continue nursing. He started arching his back and turning a bit blue around his mouth. Colton was having seizures. My heart broke all over again. Only this time, I found it hard to have hope; I knew this disease all too well. I immediately jumped to the future. Instead of dreaming of football pads and college applications, I was wondering if he would ever speak. Instead of hoping that he would be tall like his dad, I was wondering how I would physically care for a disabled grown man. I bargained and pleaded with whoever would listen: Please just let my baby be okay.

Colton is not okay. He is adorable and smiley and opinionated, but he is not okay. His seizure control has been considerably better than his sister’s was in her first year, but he is lagging behind in his gross and fine motor skills. At 10 months, he is still not sitting well. He has strange episodes during which half his body goes limp.

But after more than ten years, we now think we know why two of our children suffer these episodes: SLC13A5, a citrate transporter disorder.

Unbeknownst to us, my husband and I are both carriers of SLC13A5 mutations. Tessa and Colton were unlucky enough to inherit a bad copy from each of us. And our geneticists couldn’t diagnose Tessa until now because our kids are among the first in medical literature to have this disease.

We hope that by sharing our story, we can connect with other families who have citrate transporter disorders. We hope that by shining a light on this new disorder that other families will be pulled out of the dark days of not having a diagnosis for their child. We hope that treatment options for our children and others like them are on the horizon. We hope to kick SLC13A5’s butt. Please help by sharing your story or connecting with our team.