alayna

Alayna’s Story

Ah, where do I even begin!? Well, a good place to start is the very beginning I guess. My pregnancy was a pretty normal pregnancy. I did have late-term gestational diabetes and then undiagnosed polyhydramnios. Our daughter was born at 39 weeks gestation via planned repeat c-section. She seemed perfectly healthy to the medical team and was perfect to us! I do remember she did not cry like a normal baby should or would cry when first coming out. Soon after I was able to go and meet our new baby girl, who was named Alayna by the way. Later that day I was burping Alayna on my shoulder when her head flew off my shoulder like a strong older baby would hold their head and her head turned way to the side. It was very strange and I remember thinking that! She vomited after that and I remember the nurses saying “it is normal after a c-section”. The next day more unusual movements were seen from Alayna. We told the nurses and were reassured it was nothing. Alayna was a pretty quiet baby, she would just make little grunts and I assumed that was her cue to eat. Then the real unusual movements started that really got my mommy gut worrying. While she was swaddled she would be sucking on her pacifier and all of a sudden she would tense up for a few seconds then her pacifier would fall out of her mouth and she would stop being tensed and then she would cry, a faint cry that lasted a second. We told the nurses which they just bluffed it off to be something related to having a c-section still. But it happened again many hours later and we turned our call light on but by the time the nurses arrived Alayna was back to normal so once again we were crying wolf. This continued but was happening sooner each time. The night before discharge, a night nurse who was a friend dropped in around 4:00 a.m. to meet Alayna and see how we were doing. Alayna was swaddled in her bed and that’s when she did her unusual behavior and that nurse witnessed it and said is that what you have been talking about and we told her YES!!! She instantly said she was taking the baby to the nursery for observation and we didn’t see our baby till morning when they told us they were going to transfer her to Children’s Mercy in Kansas City. I instantly started bawling my eyes out in fear. We went to the nursery and watched as our baby was prepped to go for a ride in the ambulance. She had just had an IV started in her little hand and was in a big plastic container and her eyes were open looking at us. I want to mention that we hadn’t seen much of her eyes being open, if at all since she was born. So this was her telling us she was going to be ok, she is going somewhere to get help. She was taken away from us and I went back to my room to call family and prepare for my quick discharge so we could go be with Alayna at Children’s.

When first arriving at Children’s Mercy, our first time ever being there, we were told upon arrival that the ambulance crew had given Alayna anticonvulsants to stop what they thought were seizures. We, of course, were scared. We were told that they had done or will be doing multiple bloodwork tests, X-rays, an MRI, spinal tap and an EEG. I honestly don’t remember how things went after that as it was all a blur. I know we weren’t being told anything because the bloodwork was all coming back ok. Alayna was receiving anticonvulsants as they thought she was having seizures or spasms. Her unusual movements she was doing now was she would stiffen her body, one of her arms would straighten out to the side along with her head and her eyes would also go to the side. She was doing this pretty frequently by now lasting less than 30 seconds each time. It was very hard watching her do this. All we had hoped was that she was not in any pain during them. That afternoon we had to go talk to the financial counselor and then find a place to stay for the night. We knew at this point it was going to be some time before Alayna was going to be able to go home. They needed to figure out what was going on and what was causing these episodes. We ended up getting a room in the Ronald McDonald House close by and they welcomed us in with open arms. Each new day came and the medical team of doctors would do their rounds and we patiently sat by Alayna’s bedside waiting for them to give us some answers. The doctors were thinking with the way Alayna’s brain waves were acting on her EEG that she had Ohtahara Syndrome. It is not a good type of epilepsy to have. That news was not official though. It wasn’t until the end of the first week we were finally sat down and told something about the findings they got from the MRI they took when Alayna arrived. We were told that Alayna’s brain had polymicrogyria. We had no clue what that was at this point. We were told that the prognosis is not good with this condition and that we should start preparing ourselves to take Alayna home and love on her while she is still here with us. And then the doctor left us both bawling next to Alayna’s bedside. The nurse, who we will never forget and who has a special place in our hearts, gave us privacy by closing the curtains around us and let us mourn. We weren’t mourning the death of our baby but we were mourning the expected life she was supposed to have. Why us? Why our baby? What have we done wrong to deserve this? Alayna’s seizures still were happening with no relief from the one antiseizure medicine she was on so they introduced a second medicine in hopes it would help. The start of the second week she started declining requiring oxygen at this point. We were really scared we were going to lose our baby so we asked if we could have a family photo shoot for memories. Alayna’s older siblings had only got to see her once for a brief period so this would’ve been their second time to see her. We did our family pictures and during those pictures, Alayna opened her eyes for her sister while she was being held by her. It was so heartwarming. After that, we were confronted and told that with Alaynas deteriorating condition she qualified for a special genetic test called Stat Sequencing and asked if we would be interested in getting it done. We, of course, were worried about not being able to afford it but we were reassured it wouldn’t cost us anything so we told them we will do it as long as it would help Alayna. Alayna continued to have her seizures. She liked to do them at night after we would leave for the day. We wouldn’t believe the nurses so Tyler (Dad) went and stayed with Alayna through the night to see if they were really telling the truth. They were. The last seizure Alayna had was on day 10 of being in the NICU, when she was 12 days old. We came in to see her for the day and the morning nurse told us she had had a 4-minute long seizure in the night. We were heartbroken to hear since all of her seizures had only been lasting seconds. Well little did we know that that was going to be her last seizure and she started to improve after that. Shortly after that, we were pulled aside by a neurologist on Alayna’s care team and he told us he had some news but it wasn’t official until he talked it over with the other doctors. He brought up the MRI that was done on the day she arrived and said he felt he did not see anything wrong with her brain and that he DID NOT see polymicrogyria. That was the BEST news we had heard in our whole lives! He told us not to get too excited until we got the all clear from the other doctors. So we waited to tell our family and sat on pins and needles. Alayna started to improve more. She started to shock the doctors. She was taken off her oxygen. Yes! After all this time of no real crying, she finally found her voice and her cries were heard all throughout the NICU floor. It was the best sound to our ears. We then got wind of the results of the genetic testing but they wouldn’t be official until it was completely reviewed and looked over and studied by the team of doctors and geneticists. We were told Alayna had a mutation on her KCNQ2 gene. KCNQ2 is a gene involved in the proper functioning of a potassium channel in the brain. It is what causes seizures if it’s not functioning properly. So this genetic mutation is what the doctors are saying is causing all of this. Not Ohtahara Syndrome. Not polymicrogyria. We were happy to have a reason. I’m not saying we had an answer at that point because the doctors knew nothing about this genetic mutation. Alayna was continuing to improve it was almost like a miracle had happened. She got the IV taken out of her head, then shortly after her feeding tube was removed. This is when we started to see the light at the end of the tunnel of this nightmare we felt we were in. Alayna just had to work on eating and gaining weight. Her seizures were under control with the two antiseizure medicines she was on. We were getting close to going home but Alayna had a setback and had to have a blood transfusion because of all the heal pricks the nurses had to do on her for testing. After she got blood she was as red as a tomato and back to herself. We then had to wait for a care conference where all of the doctors that had been working on Alayna’s case would sit down with us to discuss the official findings and future care. In the meantime, we were trained on how to give meds at home and CPR trained. The day came for the care conference and we were told Alayna had a genetic mutation on the KCNQ2 gene. We were told it is very rare. They knew nothing about it. They couldn’t answer our questions about what to expect. They just reassured us that with any child you never know what to expect with their future so we just needed to take things day by day. We had so many questions that couldn’t be answered. It was hard to accept the unknown. A few days later after being in the NICU for exactly 30 days we finally got to home with our baby.

Being home was nice, but we were so scared of living without all the monitors. We felt we couldn’t take our eyes off of Alayna or we would miss something. That fear did get eased slowly as the days went by and we didn’t witness anything to be worried about. We got used to our new “normal” of giving multiple scary medications. We also had to get used to traveling back and forth to Children’s Mercy multiple times a month to see lots of different specialty doctors. It was a two-hour drive each way and it was torturous when you have a baby who severely disliked traveling and who had a compromised airway. We adapted though. It made us strong. I sat down one day and decided it was time to do some deep research on Alayna’s diagnosis to see if I could find something that the doctors didn’t. I did find a family from Chicago that had a child with the same diagnosis so I reached out. I found out that there were only 90 cases worldwide. That was not what I had hoped to hear but we already knew Alayna was rare when the doctors couldn’t tell us anything about KCNQ2. There was a parent support group on Facebook that I was added to and we were only the 45th child on there! It was so wonderful being able to ask other families questions that had already been living with this diagnosis. They became our go to when we had worries or needed a pick me up. They helped me to help our doctors navigate KCNQ2. We became the leaders in our doctors care. It felt weird being the ones to tell the doctors what to look for or what we should do. We started becoming confident in our new role as parents of a special needs rare child. Days turned into weeks. Alayna stayed seizure free, thank god. We did start to see some signs of developmental delays but we were assured by her neurologist that things were ok. So we tried not to worry too much. Feeding was an issue as well as she wasn’t eating as much as a child her age should and she was still having to use a hospital grade nipple. At a year old we went against our neurologist’s words and requested for Alayna to be put in therapies. She needed physical, occupational and speech therapy. Shortly after turning one Alayna started to sit independently. She was weaned off of one of her antiseizure medications at this point. At 2 years old she started to crawl. She was weaned off of her 2nd antiseizure medicine. We were so scared to be off of all anticonvulsants, talk about high anxiety for quite some time. At 3 years old she pulled to stand. Started preschool which we were terrified to trust others to know how to care for our little special girl who only we understood. But she adapted well. Duh, she was a warrior! At 4 years old she started walking! She is still saying no words, I don’t like calling it nonverbal, but she is very vocal and has her own language. She does do some sign language but she’s pretty good at letting you know what she wants for the most part. We only struggle with not knowing when she is in pain or where things hurt. Pain and sickness is the devil for her. She is 5 years old currently and is still seizure free. Yay! She is developmentally delayed in all areas but is always making slow steady progress. She still has a team of doctors we see routinely at Children’s Mercy in Kansas City. 12 different specialty doctors she sees to be exact. Why does she have that many doctors, well she isn’t only dealing with KCNQ2 Epilepsy, she is dealing with 15 other diagnoses that go along with it that we know of. There are others too but they haven’t gotten an official diagnosis cause they don’t fit the normal criteria needed to get put on the list. We are still learning about Alayna. She isn’t an open book. She is a puzzle that we have been slowly piecing together the best we can.

Since diagnosis day we have learned just how truly blessed we are. We learned that miracles do happen. We learned to have a great deal of patience. We have learned that the unknown isn’t as scary as it sounds. We learned we are braver than we give ourselves credit for. When we were asking why us why our baby 5 years ago we didn’t realize that we needed this. We have been shown how to love the dark side of things and how to deal with them in a positive way and to not complain. We learned no matter how challenging of a day it is when you feel you can’t take any more, tomorrow is a new day. We have learned to be grateful for our health and to not take it for granted. We have learned to live outside of our comfort zone so that our daughter can have the life she deserves. We have grown a strong backbone and body armor battling for our daughter in every way possible. We have veered away or lost friends and family but also gained a whole new amazing supportive group in the process. We have learned that there’s going to be things we aren’t going to be able to enjoy anymore but that means we learn of new ways to enjoy them or how to adapt to be able to enjoy them. We’ve learned there is always going to be things out of our control and there’s nothing we can do about it. We have learned it is ok to get overwhelmed, who wouldn’t, but to know when to step away. We learned that our daughter stands out in the crowd and that we should be proud that she does. We’ve learned there is no such thing as normal. Being a parent you think you are the one to show your child how to live in this world but we have learned that our child is showing us how to live and how to keep the faith. It is our mission to live up to what our daughter has taught us and to help others transition into their new life after their diagnosis with KCNQ2. We were given this life for a reason. We will fight for understanding and inclusion and spread awareness until the end of time.