‘How will we tell her sister?’ I held her limp body, kissing her and praying she’d breathe again.’: Baby diagnosed with Lissencephaly, ‘She is a true miracle’

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“Emma was born on March 20, 2015, via planned c-section after a healthy and normal pregnancy. She seemed to be a perfectly healthy baby. She was discharged from the hospital three days later. We were thrilled to have her home, a complete family of four. Her first night home, I was waking up with her and she was doing something that did not seem normal. I watched and held her as her body would twitch, eyes blinking faster than you could ever imagine, and her lips making a loud smacking noise. It scared me to death so I woke up her dad every time (four times) and each time, he would take her because she was screaming and she would finally calm down. Brandon thought she was just a daddy’s girl, which I am sure she is but this time, that wasn’t the case.

Courtesy of Jaclyn Tapia
Courtesy of Jaclyn Tapia

The next day, I was seeing her do the same thing every time she would wake up, so I called Brandon and said, ‘Something is wrong, I just know it.’ I told him I thought she was having seizures. When he came home, I woke her up to show him. Sure enough, she did it again, twitching, blinking eyes, and smacking lips. This time, I recorded it to show her pediatrician. We made an appointment with her amazing pediatrician. Once at the doctor’s office, she started to have another one, and Brandon recorded it on his phone to show the doctor again. At this point, they were lasting about 30-40 seconds (the longest seconds of my life). The doctor did a check-up and watched the video and confirmed, yes, she was having seizures and we needed to get in the car and drive straight to Primary Children’s Hospital in Salt Lake City. My older daughter, Ava, was with my parents and they were okay with keeping her for another night. We did just as Dr. Greenberg had said and drove straight to PCH, where he had the best of the best waiting in the ER for us to arrive.

Courtesy of Jaclyn Tapia

It was about 6 p.m. when we arrived at PCH and at that point, she had about 10 seizures. When we got there, they took us back right away, where they started to do numerous tests, including two failed spinal taps (my heart was breaking). We were then admitted to the hospital for them to run an EEG on Emma. She was screaming the whole time they were putting the plugs all over her head and wrapping her head up in bandages. Because of all the trauma she endured, she ended the night with about 25-30 seizures. The next morning, March 25, we started to get results of the tests from the night before, which were all coming up negative. We were getting frustrated. What was causing my new little baby to have such horrible seizures? They had already started her on a loading dose of a medication called Phenobarbital so she was very, very sleepy, and stopped eating. They had to put in a feeding tube. That afternoon, Emma had an MRI and the cause of her seizures was clear. The doctors walked in and asked the family to leave the room. That’s when we were told our sweet baby, who was only 5 days old, had a terminal diagnosis.

Courtesy of Jaclyn Tapia
Courtesy of Jaclyn Tapia

The world stopped. The tears were uncountable and fell down my face. You could hear our hearts breaking. The questions started to flood my mind… how long did we have with her? How would we tell her big sister (who was 4)? What will our lives be like? Will she ever leave the hospital? How can we do this? These are all the things, plus a million more questions, that ran through our minds as the doctors told us Emma had Lissencephaly. Lissencephaly is a rare brain disorder that affects only one in 100,000 live births. Lissencephaly means ‘smooth brain’ in Latin. Emma’s brain doesn’t have the grooves and folds like a normal brain. It can also be known as ILS (Isolated Lissencephaly Sequence). ILS is caused by a deletion on chromosome 17, PAFAH1B1. This disorder is due to a random gene mutation between the 12-14 weeks of gestational development. This can not be prevented and there is currently no cure. Doctors said she will most likely be severely developmentally delayed (a vegetable, yes, they said vegetable), but anything is possible and only time will tell. There is no specific answer to what our future with Emma will look like. It will always be a day to day process and we can only hope for the best. I sat there and mourned what I thought her life would be what our life would be like as a family, what her relationship would be with her sister, and all the things she would never get to do.

Courtesy of Jaclyn Tapia

I was in the deepest sadness I had ever experienced. In a room surrounded by loved ones, I felt absolutely alone. As Brandon and I sat in disbelief, the phone rang in our hospital room. It was the girls’ pediatrician. He called because he had heard we just received Emma’s diagnosis. His words stopped me in my tracks, he said, ‘I am not familiar with this diagnosis but we will get through this together. I will treat Emma for Emma and not her diagnosis. She will write her own story. No doctor can tell you what she will and won’t do.’ It was at that moment, Brandon and I decided to give everything we had to make Emma’s life the best it could be and give her every opportunity to grow and thrive.

Courtesy of Jaclyn Tapia
Courtesy of Jaclyn Tapia

When we were discharged from the hospital, I didn’t know how to go home and be a mother to a child with special needs. How was I also going to care for her sister, Ava? Ava was so excited to be a big sister and my heart broke thinking about how she won’t have that best friend to run around with and dance with. Brandon and I decided from the moment Emma was diagnosed, we wanted to be completely honest with Ava. We felt being honest and open with her would be the best way for her to understand. Even though she was 4 years old, we explained it to the best of our abilities. We never talk about life expectancy, since it’s really unknown, as it is for all of us. But we always answer any questions she has regarding Emma. I feel this helped Ava to adjust and grow with Emma. As time passed, I watched Ava feed Emma, care for Emma, and hold her through her seizures, telling her she loved her and she was there for her as she stroked her hair and kissed her cheek. In these moments, I realized Ava was supposed to be Emma’s sister. It was written in their story from the beginning.

Courtesy of Jaclyn Tapia

Emma’s seizures stayed controlled with phenobarbital until about 5 months of age when she started having Infantile Spasms. We fought hard to get these spasms stopped. We were finally on our third medication to try and stop the spasms. In Utah, we finally qualified for CBD Oil. She started the oil when she was 7 months old and she stayed seizure-free for a year. Throughout that year, she bloomed. She smiled, she laughed, she interacted, she held toys, she banged toys together, she said ‘Mom,’ and she even could sit up unassisted for over a minute. These are all things doctors said she would never be able to do because of her limitations.

Courtesy of Jaclyn Tapia

At 18 months, we had a feeling Emma might be silently aspirating. Well, I thought she might be; everyone else just thought I was crazy. Well, come to find out, I was right and Emma was scheduled for a g-tube surgery 2 weeks later. After getting the g-tube, Emma did fantastically. She starting gaining weight like a champ! She went from 5% in weight to 40% in just a few months. The feeding tube was such a scary and heartbreaking step, as we felt like it was a step back but we were so wrong. It’s been the best decision for Emma.

Courtesy of Jaclyn Tapia

A month before Emma turned 2 years old, her tonic-clonic seizures returned and we were devastated. We increased her CBD oil and even started to add some anti-seizure meds but nothing was working. She started having so many seizures a day, she would sleep all day long. She started to lose all the skills she had worked so hard to gain, skills doctors said she would never have. Watching them slip away was harder than hearing it wouldn’t happen. Emma lost her smile and her laugh. My worst fear was coming true. I was losing my daughter at only 2 years old. Five seizures meds and the ketogenic diet weren’t controlling her seizures and all the meds were destroying her body.

Courtesy of Jaclyn Tapia
Courtesy of Jaclyn Tapia

Watching your child go through such pain and suffering is absolutely unbearable at times. During this time of Emma’s life, I thought it was her time. I didn’t know how she was going to live with 25-30 tonic-clonic seizures a day. Her body was tired. After each seizure, I held her limp body, kissing her forehead and praying she would breathe again. I prayed this time would pass and after lots of thought, we got Emma off four seizure meds and the ketogenic diet and started a new CBD. Emma slowly started to improve. It wasn’t a quick fix it and it took lots of time.

Courtesy of Jaclyn Tapia

2 years later, when Emma was 4 years old, we finally saw her smile again. After 2.5 years, we finally heard her cry again. Lastly, after 3 years, we finally heard her laugh again. Previously, I took these sounds for granted and now these sounds are something I will cherish for the rest of my life. Yes, even the crying! Emma was also alert enough to finally make some dreams come true for all of us. Ava’s dance studio put together a duet for the girls to perform together at the year-end dance show. This meant the world to us as the one thing Ava always wanted to do from the moment she learned she was having a sister… to dance with her on stage. This moment was more emotional than I could have ever imagined. I am so proud, proud of both of our girls. Ava was up there on stage with her sister in her stander, knowing she could have a seizure at any moment. Ava said, ‘It’s okay, Mom. I would just stop and care for her. Then when she is okay, I will finish dancing.’ This is yet another thing we never thought would happen but with some adaptations, it was a show stopper. Not a dry eye in the house!

Courtesy of Jaclyn Tapia
Courtesy of Jaclyn Tapia

In 2018, Emma started preschool. It was something I swore would never happen. She was only 3 years old and still like an infant. However, I gave in and let her do a trial run. Well, I quickly learned letting Emma attend preschool was one of the best things for her. She loved playing with the kids, making new friends, storytime, and most importantly, music time. Watching her grow and learn to interact with her teachers and friends was something I never thought I would see.

Courtesy of Jaclyn Tapia

Emma is now 5 years old, just graduated preschool, and ready to take on kindergarten. She is thriving, happy, and a true miracle. She is slowly learning how to do everything again and she recently learned how to communicate with her new eye gaze device, which is another thing we were told would never happen. Like everything else, it is taking time. Her seizures are well-controlled and only show themselves when Emma is sick. Sadly, Emma struggles with chronic UTI’s so they show themselves a lot but overall, Emma’s quality of life is more than I could ever ask for. Striving for quality of life has taught us that we are Emma’s voice and we will never give up. Many doctors we have come across see Emma as Lissencephaly. They see Emma on paper and for all those doctors who cross our path, we have quickly found a new one who cheers her on. We are Emma’s voice and we have to always speak up because we know her best. Her pediatrician says this to us all the time and he also never lets a visit go by where he doesn’t tell us that we are doing a great job! Now that’s the Dr to have in your corner they are out there so don’t give until you find yours.

Emma will continue to write her own story with lots of laughter and smiles. We are so excited to see where she goes in life with her best friend Ava by her side.”

Courtesy of Jaclyn Tapia

This story was submitted to Love What Matters by Jaclyn Tapia from Utah. You can follow their journey on Instagram, Facebook, and YouTube. Do you have a similar experience? We’d like to hear your important journey. Submit your own story here. Be sure to subscribe to our free email newsletter for our best stories, and YouTube for our best videos.

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