Kayleigh Sayer
Bio
Hello All-
I'm a 25-year-old mother from Houston, Texas. My blogs are all based on my personal struggles raising a baby with a rare genetic disorder.
Stories (3/0)
The Answer, the Diagnosis, the Heartbreak
After Ryder's liver biopsy clarified that he didn't have Biliary Atresia, I went through a stage of resentment. Don't get me wrong, I was beyond grateful that he wouldn't need a liver transplant, but I began to get frustrated with the hospital. I didn't have much confidence that we would get our answer with the genetics test because initially, his liver specialist requested the test for "Alagille Syndrome". Both his dad and I did some research and looked more into this genetic disorder, and the symptoms simply did not match with our son. I thought this genetics test would end up being a waste of time. About a month after his test, I received a call from his liver specialist. The results were in and as I suspected he didn't have Alagille Syndrome. What his specialist did seem concerned about was something called a "Pex1 Gene." It's a shortened term for Peroxisomes, which is an important organelle found in all eukaryotic cells. They are involved in the catabolism of very long chain fatty acids, branched chain fatty acids. This Pex1 gene is basically an important part of all major organ systems to function properly. What this test showed was that Ryder had an elevated amount of "Long chain fatty acids" which meant there was a mutation in his Pex1 Gene. His specialist said not to worry just yet, they were going to send his results to a geneticist to see if there was any concern. He said, "There are people walking around every day with highly elevated long chain fatty acids that function normally and don't know." The phone call ended with me being a bit confused but I wasn't too worried being that his specialist wasn't worried just yet.
By Kayleigh Sayer6 years ago in Families
The Next 4 Months
The Best Day of My Life My pregnancy had been the longest and most difficult phase of my life but as soon as induction day arrived, it was a blur. I remember seeing Ryder's face for the first time and the world had stopped. It was almost surreal. This is the beautiful little boy I had cared for in my stomach for 9 months and now he's finally here. It was a lot to take in but it was also such a beautiful moment. For the first time, I felt unconditional love. Ryder was the most precious and sacred form of life. My hopes and dreams were now in physical form and in the palm of my hand. I couldn't help but stare in complete awe. Although he was completely perfect to me, the nurses quickly became concerned with the coloring of his skin. They determined him to be "jaundiced" and within a matter of minutes he was taken from me and set under "therapeutic blue lights." As a new mother, this broke my heart, but little did I know this was nothing compared to what we had ahead of us. Afterwards, I was granted the time back and spent most of the night with skin to skin contact to see if it helped calm down the jaundice. The morning after Ryder's birth, a technician came in to perform his newborn hearing screening. During the test I was chit chatting it up with my mom with absolutely no concern regarding his hearing. I mean what mom is initially worried about their son failing his hearing screening? The test finally finished and the technician told me he had failed his screening in both ears. My mom and I completely stopped our conversation in shock. I thought I had heard her incorrectly. I started to cry a bit. No mom wants to hear that their son might have a disadvantage ahead of them. The technician quickly reassured me it was normal for infants to fail the first time and it was probably just fluid in his ears. She said she would come back tomorrow and check again. This helped me relax a bit. It must be the fluid... no one on either side of our family has any hearing issues. There wasn't anything to be concerned about. The next day she came back and he failed in both ears once again. I had a pit in my stomach. The technician still assured me his hearing could still be okay and to come back in a few weeks to try again in case its taking the fluid awhile to drain out. I remained hopeful and tried to put the situation in the back of my mind. I mean we were still concerned with him being jaundiced any way. The therapeutic lights seemed to help his bilirubin levels and we were released on time. We went home with our little boy and things were looking up. Everything was going to be okay.
By Kayleigh Sayer6 years ago in Families
- Top Story - August 2018
1 in 150,000Top Story - August 2018
“1 in 150,000 chance,” is what the doctor told us when describing the rarity of my son's new diagnosis, Zellweger spectrum disorder. All we knew was that this disorder was caused by mutated genes, and has a very poor prognosis. Our world was shattered. Our hope was shattered. And we had a long, broken down road ahead of us. This is my blog as a mother to cope and express my true feelings.
By Kayleigh Sayer6 years ago in Families
