Archive for category: Families

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!

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.

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.

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.