Family Stories

WHAT NO PARENT WANTS TO HEAR..

by The Davis Family (Aug, 2019)

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

by Prasad Vattikuti (June, 2019)

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 (April, 2019)

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.

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

by Kim Nye (July 25, 2014)

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.

The Grover Family’s Journey

Jan, 2013

It was New Year’s Eve 2007 and the clock was about to strike midnight. Most people were out ringing in the new year, while Dr. Trevor Resnick was at Nicklaus Children’s Hospital, formerly Miami Children’s Hospital, patiently awaiting the arrival of the Grover family from Palm Coast, Florida. Brayden Grover, nearly 1 at the time had been suffering incessant and uncontrollable seizures.
“It was like something out of a movie, Dr. Resnick was there and he met us as the new year dawned. I was blown away,” Maureen Grover, Brayden’s mother said.

Brayden began experiencing seizures from birth. His earliest days were spent in an intensive care unit in Daytona Beach where he suffered multiple seizures. During his first year, the family visited various area experts trying to get help for little Brayden, whose seizures seemed only to get worse with time and attempts at treatment. By his first birthday, the little boy was experiencing 30 to 50 seizures a day, even as doctors juggled six or seven medications aimed at controlling the relentless episodes. […]

Click Here to Read Their Story.