Casadee was my 3rd child. I already had 2 girls who were 12 and 6 so truth be told, I was relieved to have another girl. Girls I knew how to do.
Despite having a full-term pregnancy, Casadee was my smallest baby at 6 lbs 1 oz. She was perfect and I was in love.
She had difficulty breast-feeding and we had to supplement with formula but she slowly started to grow. We had a friend who had given birth about 2 weeks before me and when I would see her baby girl, she was so much bigger than Casadee. I started noticing her daughter was hitting milestones that Casadee was behind on.
When she was 14 months old, not walking or talking but still drooling a lot, I started questioning if there was something wrong. Her pediatrician said to give her time. After seeing no change, at 18 months she was tested and diagnosed with developmental delays. She began receiving speech, occupational, and physical therapy 3x week.
I still thought this was temporary, that she just needed a little extra time.
After she turned 2, we noticed behavioral concerns including pulling her hair out and fixating on things like colors. And still the drool, always the drool.
I had been doing some research and thought she might be Autistic but this was at a time when information on Autism was still new and was thought to mostly affect boys.
At 4, we took her to a developmental specialist and she was diagnosed as mentally retarded. We were told she would likely only reach 50% of her cognitive capacity and would not develop past the level of an 8-year-old. I remember leaving that appointment in shock and unable to process what we were told.
That's when my search for answers, treatment, and services began and would last another 16 years.
Before kindergarten, she had IQ testing and was determined to have a full-scale IQ of 40. She started school in the Trainable Mentally Handicapped program.
We went to many doctors over the next several years. We found out she had hearing problems and had 5 sets of ear tubes over 5 years. She had a heart murmur and we started seeing a cardiologist. She rarely slept through the night which meant I didn't sleep either. Her Neurologist thought she had mitochondrial disorder so we fought the insurance company for years to get testing. We had many tests including Fragile x and Angelman's, all came back normal.
She continued to grow and develop but much slower than her peers. Her vocabulary was limited and often hard to understand. She continued to have what I saw as Autistic traits including sensory issues, problems with textures and a need to have things in order. There were times she would become agressive or try to run away when it wasn't safe. People just didn't understand why this child that looked normal was acting this way and I often felt judged as a parent.
When she was 8 we finally received an Autism diagnosis and she began behavioral therapy and medication. I would change my mind many times over the years about the use of prescribed medications. Always questioning, am I doing what is best for her?
At 11 she began having partial complex seizures and we finally got approved for Mitochondrial testing. She had a muscle biopsy and lumbar puncture and the results revealed that she had a defect in her muscle enzymology consistent with impaired oxidative phosphorylation and a significant cerebral folate deficiency which could be exacerbating her seizure activity. They said that while she did not have mitochondrial disease, she did have mitochondrial dysfunction which they suspected was a result of another undiagnosed genetic defect. Our insurance had not approved whole genome sequencing so we took this information, put it in our medical binder that was bursting at the seams, and started her on a daily prescribed mitochondrial cocktail.
For many years I made the trek to the Neurologist, Cardiologist, Endochrinologist and therapies. Casadee grew and thrived. She loved to dance and sing and play with barbies. She was funny and happy and so special to all of us. She never did learn how to read or write but she did well with picture schedules and routine. As she got older, I began to lose hope that we would ever know what had caused her limitations and it left a hole in my heart.
After she turned 18 and qualified for Medicaid, her Primary Care Physician encouraged us to have whole genome sequencing which Medicaid covered. I told myself that this was it. If it came back normal, I was just going to accept that I would never know and go on with our lives and stop the research and searching that drove me crazy. I say this lightly but I think other special needs Moms who have a child without a concrete diagnosis understand how trying to find answers, treatments, and a cure can become an obsession.
We had the testing done when she turned 20 and I held my breath for the next six months waiting for results. Like any good helicopter mom, I had already created my online account so I could see results when they came in.
I knew what waiting for genetic test results felt like, I remember the relief mixed with disappointment every time the results would come back normal.
I expected for them to not find anything and when the results came in, I accessed them online and immediately saw the mtDNA results stating Negative - variant of uncertain significance. Variant(s) in genes possibly associated with phenotype: None identified. My heart broke all over again. As much as I told myself I would be okay with never knowing, it didn't mean I didn't feel that hole in my heart widening and this feeling of falling down a bottomless abyss. I wanted so much for my baby to be okay.
When I met with the geneticist and she said "We did find something", I felt my heart stop and my breath caught in my throat. Even as I write this, I feel that same catch in my breath. I don't think it will ever go away. She said they did not post the positive findings on the patient portal because she wanted to meet with me to review them. She pulled up the results and said they found that Casadee is heterozygous for a pathogenic variant in the AGO1 gene. Specifically c.539_541delTCT and p.F180del. She has a Disease called AGO1 that didn't come from me or her dad but likely happened spontaneously at some point while she was in the womb and is known to result in Autism and intellectual disability. She explained that there was very little known about this disease and very few people with this diagnosis. She did find a research study that was done and there were many similarities between Casadee and the research participants. The list of symptoms also included seizures, sleep problems, heart anomalies, and anxiety. I was checking off all the boxes with tears rolling down my face. 20 years in, we finally had a real diagnosis.
I went into research mode again but with a lighter heart and a new hope for treatments and cures. While there was not much information out there because this was so new, I was determined.
I connected with a mom from Poland with a 5-year-old daughter also diagnosed with AGO1. We talked and exchanged pictures and videos. Not long after she connected me to a group she had found for AGO2 that was expanding their reach to include AGO1.
Suddenly we had a small community. I learned there were doctors involved and research being done. There were other mothers and fathers just like me looking for treatments and cures and sharing their journeys. While our group was small, we were no longer alone, we had found each other.
Since finding the group, I have had many opportunities to share our journey and because Casadee is older, we have been able to provide some insight into what the future might look like for someone with this diagnosis. We also understand that no two children with this diagnosis are the same and we stand alongside each other with hearts full of hope. We are united in purpose and passion to continue to fight for answers, including advocating for funding to support more research that can result in better treatments. I believe that there are many more cases out there that are undiagnosed so it's important to push for whole genome testing for all intellectual delays.
Today I am hopeful that our AGO community will continue to grow and that AGO1 will soon have a name that will be a recognized diagnosis code.
Casadee is 22 now, lives with us at home and attends an adult day training program 3x a week. We are still working on her anxiety which often prevents her from participating in activities outside of home and she still struggles with feeling okay in her own skin. She has difficulty matching her mind and emotions with her adult body.
Sometimes I miss what might have been and I wake up in the middle of the night terrified for her future. Worried about what will happen to her when I am gone. I'm her person. Who else will ever love her as much as me. Sometimes I get lost in the profound sadness.
And then my beautiful, loving, sassy girl will say something silly. Will tell me about her show that she's watched for the 100th time. Will ask me if she can meet Pink and Taylor Swift and can we do that tomorrow. She will use a new word for the first time, or do something completely age appropriate like tell me she needs quiet time. She has made me a better mom and a better person. She has touched so many lives with her love and laughter. I let myself sink into the beauty of the moment, so incredibly grateful to have her in my life.
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