February 7, 2011 my whole world changed. My baby hadn’t moved in my womb the way she had been. I went to the doctor, they did a sonogram, and I was told I would have to have an emergency c section. At 1:54 pm my Elizabeth Grace was born; she was perfect, she needed oxygen at first but only for a short while. We were released normally, no delays. I had my precious baby in my arms – everything was so perfect.
She started getting fevers when she was three weeks old. Her first struggle with pneumonia was very scary, but we got through it. At six weeks old she developed RSV, very dangerous; we got through that as well. She had a very sensitive stomach and developed gastric reflux. She was very sick the first year of her life. I remember watching her breath just to know she was still breathing – her retractions were severe. We went to specialists, she was diagnosed failure to thrive which basically means something is really 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 IV’s around the time 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 to have a port placed and after 3 weeks in the hospital we were 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 for her to get the best medical care I would go anywhere. 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.
We saw then Dr. Pitocki, a brilliant doctor (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 a very rare 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 was told no… no they didn’t have answers for me. I couldn’t breath I was crying so badly. Locked myself in the bathroom at work, I hit the floor, I texted my boss to come to the bathroom… I couldn’t breathe. 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 complete 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, the epilepsy. Lizzy is now 5, praise God she made it past three. We continue to fight every day to re-build every skill she has lost; she regressed a lot after a seizure or High fevers. There are many unanswered questions, more surgeries to come, more tests, more labs, but it’s easier to know you’re not alone.
I would like to take this moment to thank the families in the group for their support. Jessica Carmona always, always helps me if I have questions, also another angel to me. Monica, this would not even be known 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 wasn’t for your care. Dr. Ringheanu, Dr. Norowski, Dr. Dowdel Smith, Dr. Potocki, Dr. Rochelle Sexton , Dr. Ayres, Dr. Holder , Dr. Onsongon, to name a few . Lizzy has a huge 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 IV’s. Thank you for your prayers and support of this amazing foundation. And thank you to my family that carries me when I can’t keep going on my own, God bless all of you.
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