The Diagnosis

May 24, 2022

I remember receiving the call like it was yesterday, I don’t think any mother could forget such a call. I knew John would be atypical, we had been doing therapy since he was about 6 months old. He had very little progress, he was now 1 ½ and could not sit independently, he was still gagging at most foods, he was gaining strength but was still very weak. It was early in the day, the genetics office called me and simply said, I am sorry to inform you but we have a diagnosis….

Let me begin by saying every time I would go to any medical visit for John I already expected them to find something because of his hypotonia and macrocephaly. However, deep inside real deep, I would always hope that the doctor would return to me and say “everything looks normal”…. But they never did.. and let me tell you, every atypical mom has felt this, it is not a good feeling.

On that morning, the secretary told me John had a result of GATAD2B, she said unfortunately he would have cognitive delay and things as such but had no other information. She apologized and hung up…

I soaked that in and then I began to google and then I began to not only cry but scream. I was on the floor John was sleeping in my room. I was in his room, on the floor, phone in hand and my heart was racing. I screamed so much into my hands; I was in pain. What would this mean for my son, what would be the rest of his life. I had a million questions, and my heart was truly broken for this little guy.

In all of this, you question everything, God, yourself, others… There is a mourning that happens. A mourning life does not prepare us for at all, I was there, in the mourning phase for the future of my son. I usually never ask for help, I like to pretend I can do it all on my own. That morning I called my sister not caring for what she had on her schedule because I could not be alone. She came running and I cried so much and it felt like we were young again and I got hurt or something of the sort and she came to my rescue. I felt like a child, completely lost with no answers.

In my quick research, the first thing that popped out to me was RARE, it is a rare diagnosis. He was one in 230 at the time. 1 in 230 patients in the WHOLE WORLD. There is a lot of things I want to be 1 in something in, this was not one of those cases. I quickly found Helping Hands for Gand Organization, it is run by an exceptional group of people who once had found themselves in this very situation. They united and created this organization for families to connect and to spark research. I saw they would be having a conference in July and immediately contacted the coordinator to participate. I did not want to waste any time. I needed more information, I needed to meet these other families. Only they would know what I felt. Only there could I found answers, if there were any. Jennifer, the coordinator at Gand, was like a light at the end of the tunnel. She added me to the registration and quickly gave me information. The experience of going to the conference that July was lifesaving to say the least. I am internally grateful for the family I have found at Helping Hands for Gand. I will soon share that experience in a different post.

I scheduled a visit with John’s neurologist soon after that call. When we spoke to the neurologist, he had looked into all the symptons and spoke to me about each one of them. He assured me he would be by my side and spoke to me about the importance of advocacy. Now, I knew it would be difficult to explain Gand to others, but I had not thought of what the process would be like for school or day care. I would never look at John and think I would not include him in basic life experiences. The neurologist talked about all that and most importantly he said “From now on, we are learning along with you and you are his best advocate, what you believe he needs you will need to advocate for.” It is not typical at all to have a doctor say to you, you tell me what you need. That is what you go to the doctor for, you have an issue and they have the answer most times. I would now be John’s researcher, doctor, lawyer, nurse, therapist, advocate, mother, friend and most importantly his support.

Motherhood comes with its many challenges, having an atypical child makes motherhood just that much harder. Having a rare diagnosis is even more of a challenge. You go against the current, you find yourself explaining over and over again what it is your child has. You find yourself questioning if everything you are doing is too little or too much.

I quickly picked myself up, I put my big girl pants on and I got to work. I did not want to delay any thing. I wanted to dive deep and face the diagnosis to be able to provide the best possible outcome for John. My long-term goal is for him to become as independent as possible in adulthood.

To say that mourning phase passes quickly is simply not true, I am learning you will always mourn something during this experience as an atypical mom. You will mourn different things at different times. His firsts would be different than the firsts I had raising with Giulianna. He would have more limits and would need different boundaries. Luckily and I do not say this lightly, I had an incredible team at the hospital and with my early intervention team who supported me and walked me through everything. Many of them being mothers of atypical children themselves. They had felt this before and knew just how I felt.

At Children’s Specialized Hospital, where we receive our services for John, they had a family counselor who would join me during therapy. She would walk me through different things I would need and supported me with all my questions. At home, we were still learning how to adjust and as hard as it was at first, our family has learned so much. We now feel like a team, we say “Team John Ryan”, but we really are “Team Fernandes”. Our biggest cheerleaders are each other and I could not be more grateful for this family I was entrusted to be part of.

Today we are each other’s biggest advocates and together we are John Ryan’s. He is not alone and however he grows up and however he learns we will be supportive. I want him to live his best life, however that may be. As a mom, I don’t care what he is able or not able to do. I just want him to be happy, truly happy. Every smile, every giggle will be my biggest accomplishment….