Hi everybody! I hope you all are well and had a great week and New Years! Today I have a huge treat for you. You will be hearing from the creator of Blessed for this Mess Podcast and Account, Annie. Annie's message is pretty incredible and I was so lucky to be on Annie's podcast and to become friends with her. What she has to say is amazing, so here is Annie's Big Little Sister Blog entry. Thank you Annie. Thank you for reading this week and have a great week ahead.
"She will never walk or talk.. And her life will be entirely dependent on you”. Gut wrenching words no mother wants to hear. It doesn’t start there though. During my pregnancy with Ava (at five months pre delivery) I received a phone call..a call I missed. The voicemail echoed the words “your baby’s femur is measuring small. We believe she has down syndrome. If you want to know for sure, schedule an appointment for an amniocentesis”. An amniocentesis was performed, and the results came back negative. I was told, the baby didn’t have Down Syndrome. She was healthy, and all of her chromosomes were present and there was nothing to worry about. Fast forward, post delivery. . my sweet Ava was born, healthy six pound one and a half baby girl. The first week we were home, was a whirlwind. Ava was unable to latch in the hospital, which translated to that first week of being syringe fed, and if I’m honest it was chaos. Syringe fed, major acid reflux, and a newborn baby who barely slept.
The next few months I would call the “calm before the storm”. . but like most storms, they're building up making their way to come roaring. I remember my mother mentioning something along the lines of feeling like something was off a bit and felt like Ava should be checked out. It wouldn’t be until Ava was six months old that the suspicion of the storm I mentioned to you, would whisper in our direction. Ava wasn’t meeting milestones. Yet, unconcerning enough to her pediatrician he wouldn’t refer us to be evaluated until 9 months of age. During this time, Ava wouldn’t sit on her own, she was so low muscle tone (words I wouldn’t know till later). . in fact she was so low muscle tone, Ava was like holding a wet noodle. It was a constant two hand hold for that sweet girl, and a constant teaching to those around her that wanted to hold her.
Simultaneously we were referred to our first neurologist and in home therapy at 10 months. Once a week, physical therapy, occupational therapy & eventually speech therapy as well. Our first neurologist we had for eight months. . she started with hearing and vision tests & then did an EEG. One thing that hasn’t been mentioned is the undeniable strength that Ava had even at this age. Holding her in my arms so the wires could be placed and wrapped on her head jokingly is like holding a cat while trying to give it a bath. . but more like wrestling an alligator. The EEG came back. Chicken scratch. It was as if you literally gave a chicken a pen and it went to town. The wavy lines from Ava’s electrical activity were throwing a party nonstop. Epilepsy. (Though on the outside we never saw any seizure activity).
Ava was quickly diagnosed & placed on phenobarbital (an incredibly strong drug & what we would come to know later, one of the worst medications specifically for her). Administering medication was awful. It smelt like alcohol and could only imagine it matched in flavor. . quickly as the medication had been in Ava’s system, I also quickly began seeing my bright (always) happy little girl fade. Phenobarbital wrapped itself around my little girl, and she was constantly out of it. And because the medication was so strong & a controlled substance through her neuro, there was one too many times that the medication wasn’t approved to be filled when it was needed. Lower dosing, and painfully moments where she missed a dose because of an awful system that clearly wasn’t working. These moments were very dark & scary moments for us. One small mishap with the dosage, and Ava’s body went into extreme withdrawal mode. It was too much for her to be going through, & I knew something wasn’t right there was no way she could continue living life this way in a constant battle of fully drugged up by this medication or withdrawing.
Around one and a half, we submitted for another referral to a completely different neurologist. I remember having an appointment booked out, but we would never make it that far. One and a half years old, my baby girl was starting to sit up a little bit. . one summer day we were visiting one of my best friends for a little play date with her baby. All was well, Ava was happy (per usual) and playing with some toys. Out of nowhere, blood ran down her nose. I got her in the car a little confused as to why that happened and decided it was probably best to start making our way back home (an hour and a half drive). I remember driving and looking back every now and then to be assured Ava was doing ok. Suddenly I at one point remember looking back and it was as if she passed out cold. I was screaming her name & for her to wake up. . no response. Then as if nothing happened my sweet girl would wake back up, smiling but a bit confused to what just happened. This continued, that exact moment many times until I was able to get to the ER. I remember grabbing her and running in, feeling her go completely limp on me. And if you’re a mama to a medically complex baby then you’re familiar with this next part far too well. It was our turn to state why we were here, and it was as if Ava’s body decided “ok make mom work for this one” because the episode of her seizing and going unconscious abruptly stopped.
Thankfully, we were brought back immediately. Our new neuro doctor (who we hadn’t met yet) was contacted and requested us to be transported to the children's hospital in Sacramento, ca. We were transported by ambulance, a one and a half hour drive with me little baby strapped in her carseat on the gurney. Upon arrival, our visit at the hospital was full of blood work, EEG’s, EKG’s, a lot of distracting and redirection with Ava to not pull any cords or leads. Our second day was the biggest day for my sweet girl. MRI and spinal tap day. Day three, we were cleared for home and expected to see our doctor again, in house, to go over what was going to happen.
The morning of our appointment as told by our doctor later, he had a panel of doctors reviewing Ava’s case. It was puzzling & inconclusive upon our arrival. In his office he began to tell us this, when a lady entered the room and said the results just came in via fax. He read them, and told us Angelman Syndrome via spinal tap. Google pdf documents were printed off, we were told “she will never walk or talk, and that her life would be entirely dependent on me”...oh and seizures. An appointment was booked. . and we were on our way home.
To speed up a bit, the years ahead were full of new meds, new dosing and a lot of hard work from Ava and I. Everyday, outside of school we made our way to parks or the mall dependent on the weather. Parks were playtime for Ava but in reality it was life's beautiful way of encouraging foundational therapy for her, painstaking moments of little kids staring at Ava, running up asking her to play, or even the occasional “whats wrong with her” questions. Thank God my sweet girl was never phased negatively in these moments (from what she was able to show me). . she was in awe of these kids running so freely while her hands gripped tight to the play structure for stability. Her eyes would glisten with excitement as they ran around laughing and playing. Excitedly she would scream, a verbal expression I’d like to believe was her saying “Here I am, proud as can be”. Ava still was nonverbal and though at this moment (4 years of age) she was still dependent on me helping her around.
October 11th 2017 my sweet girl took her first independent steps. 5 years old, and beaming with joy!
Today, Ava is living a life undefined by the circumstances that surround her. Her life has been full of grit & many challenging obstacles that come her way daily.
1 in 15-20,000 people are diagnosed with Angelman syndrome. A rare neurogenetic disorder. Sleep deprivation, debilitating seizures, motor and sensory challenges alongside the physical and cognitive delays. Ava says a few words “Mom” “more” and an occasional “Papa”. . but she is a girl that knows how to use her environment and verbal cues to get across what she wants.
If there's anything I would want people to know about Ava..it's this. Ava isn’t just another number representing this vicious syndrome, she is a girl who had a storm coming her way & chose to be the light, the joy, the peace & importantly the one who would stand up against it. She represents hope. That all of us can live a life outside of the prison of our circumstances. Outside of survival mode. That hope and gratitude paired with the faith of great expectancy from God, fuels this life of overcoming. Today she faces grit with a beautiful smile on her face & great expectancy for herself. Today, we are incredibly grateful for the hard work our neurologist has helped in keeping seizures at bay for Ava, as well as the hospital visits that used to be constant & traumatizing for us both.
Ava & our journey together has taught me that life brings gratitude more so in moments I may have overlooked had we not faced those tough times. She teaches me daily, that while man can speak debilitating words over you, ultimately the depths of those words are shallow compared to the truth of our God. His truth, his abundance & his grace over Ava’s life and the ripple effect it has had in the lives of others is real & present. She teaches me the value of hard work paired with unwavering determination. . & importantly that LOVE requires no verbal words to be heard, they are present in the gentle moments our eyes connect, in the brisk tug of a hair pull stimulated by sensory & apraxia, in the stillness of a soft cuddle while our hearts sync in harmony. We are grateful for the moments that may have broken us temporarily, so that we could put together the pieces that built both of us up with purpose. I may be writing a view of her story today, but one day I know she will share her story with the world from her perspective. Until that day, we will continue to show up for her, her future, & our community.