Meet Lizzy- My Miracle
She started getting fevers when she was three weeks old. Her first struggle with pneumonia was terrifying, but we got through it. At six weeks old, she developed RSV, which is very dangerous; we also got through that. She had a sensitive stomach and developed gastric reflux. She was very sick for the first year of her life. I remember watching her breath to know she was still breathing – her retractions were severe. We went to specialists; she was diagnosed with failure to thrive, which means something is wrong, but we can’t figure out what. We spent most of her first year in and out of hospitals. Lizzy was mostly connected to IVs when she should have been walking. I figured it was because she was so sick; she just couldn’t. Never did I imagine her development would be so far behind.
She had been diagnosed with CF, failure to thrive, chronic lung disease, eczema, rhinitis, sinusitis, gastric reflux, and then came the Chiari malformations, asthma, hypotonia, dysphagia, and autism. She had to have a port placed, and after three weeks in the hospital, then released. She continued to have IV medicine for another month through the port, but she was home and gaining weight. I started to take her to Texas Children’s Hospital in Houston. We are from Los Fresnos, Texas, about six hours one way, but I would go anywhere for her to get the best medical care.
We saw Dr. Pitocki, a brilliant doctor (I love her, by the way), who ran the WES test: whole exonerated sequencing. The results took a while, but I was at work when I got that call. “Mrs. Sedlachek, we have news on Elizabeth; results show she has a de novo mutation in an infrequent occurrence. She has Syngap1 deletion; she told me there is NO CURE; this causes epilepsy, mental retardation, and autism and is the cause of her hypotonia and global delays. We don’t know very much about this gene. I asked, “Will my baby ever be normal? Will she ever speak?” I had no answers for myself; I could not breathe and cry hysterically. I couldn’t live. I locked myself in the bathroom at work; I hit the floor and texted my boss to come to the toilet. She rushed over; I told her about the phone call; it was not a good day.
Shortly after, I found Monica Weldon, and she took me under her wing. A stranger treated me like she had known me forever. God bless her for that because I needed hope. Then after you think, nothing else can go wrong. Here come the seizures, epilepsy. There are many unanswered questions, more surgeries, more tests, and more labs, but it’s easier to know you’re not alone. Lizzy is now 5; praise God she made it past three. We continue to fight daily to re-build every skill she has lost; she regressed a lot after a seizure or High fevers.
I want to take this moment to thank the families in the group for their support. Jessica Carmona always helps me if I have questions; she is also another angel to me. Monica, I would not even know without you, the Bridge the Gap Foundation, and all those with Rare Science. Dr. Musso, Dr. Vece, Dr. Rocco, Dr. Elizabeth Hernandez, Lizzy, and I would not be here if it weren’t for your care. Dr. Ringheanu, Dr. Norowski, Dr. Dowdel Smith, Dr. Potocki, Dr. Rochelle Sexton, Dr. Ayres, Dr. Holder, and Dr. Onsongon, to name a few. Lizzy has a substantial medical team, and I thank God for all of them.
Thank you for reading Lizzy’s story. Her journey isn’t over yet, and the unconditional love and devotion we have for our kids will never break; as long as there is hope, we will get through this. Lizzy is a fighter, and she is the light of our lives, always smiling even when on IVs. Thank you for your prayers and support of this fantastic foundation. And thank you to my family that carries me when I can’t keep going on my own; God bless all of you.
