You are here
The day Elijah was born I just had this feeling that something wasn’t right. I told the Pediatrician on the Delivery unit that Elijah’s breathing sounded funky and I was reassured that it was normal and all babies do it until they turn 3 months old. She even wrote on my discharge paperwork that I was worried and she reassured me that it was just first time mom anxiety. By the time Elijah was 6 months old he was hospitalized 6 times with bronchiolitis and I was told by the attending on the unit that he didn’t warrant a Pulmonary consult. I was not in acceptance of that answer and went down to their outpatient unit where I was told the next available appointment wouldn’t be for 2 months. I then called another local hospital and was told the same thing. I still was not giving up on this, my mom senses just kept tingling that something wasn’t right. I called his pediatrician and we talked about what was going on. Within 24hrs I received a phone call back from him and an appointment to see the Department Head of Pulmonary in an out of state hospital at the end of the week. I drove Elijah to this appointment and the following week we received a diagnosis, Elijah was diagnosed with mild to moderate tracheomalacia.
We then started to see an Orthopedic at the out-of-state hospital for issues of Torticollis and a hypo plastic C4 vertebrae. As time went on Elijah wouldn’t use his left side of his body and the Orthopedic sent us to Neurology for a consult. Neurology ordered an MRI of the brain and when the Orthopedic found out he added on an MRI of the entire spine. The Brain MRI came back mostly normal but they discovered that he has a tethered cord. The orthopedic then suggested that we see Genetics due to the recurring infections, and abnormalities of the spine.
Fast forward to finally getting into genetics, I remember this day so clearly. We saw Dr Gripp at AI DuPont and Dr Gripp walked into the room looked at Elijah for like 2 minutes and was like I am pretty sure Elijah has what’s called 22Q11.2 deletion but I need to finish my evaluation and confirm with some blood work. I was so baffled. How can this Doctor just walk in the room look at my child and know what is wrong with him. I started to doubt and think that it was just like all the other doctors throwing out things it could be. But then the call came a month later. I remember it like no other. May 2nd, 2016 I received the call that I was dreading. The Genetic office called and confirmed that Elijah did indeed have what’s called 22q11.2 deletion. My mind began to go all over, I had no idea what this meant, I didn’t do much research during the waiting period as I didn’t want to freak out over something Elijah may not even have. I was petrified of not knowing what the future meant for Elijah. I tried to wrap my head around it but it just felt like so much at the time. Dr Gripp had told me about the 22q and You Center at CHOP and I called and made an intake appointment with them.
The first year of his diagnosis seems like such a blur, between the intake and the referrals to all the other specialists. It became overwhelming. I felt like I was just going through the motions. Elijah was in and out of the hospital, in and out of doctor appointments, referrals to this, referrals to that, therapies for speech, physical therapy, hearing therapy, and occupational therapy.
Fast Forward to now, Elijah is thriving in a public school with pull out supports. His school has even helped put on a 22Q awareness day in January 2020. He talks and boy does he not shut up. You may not be able to understand him all the time but he definitely has a lot to say. I never realized it in the moment but looking back I realized Elijah was such a quiet baby, he barely cried, he never cooed, I just thought he wasn’t very talkative. There were days I prayed he would talk, make a sound, something, now there are days I pray he shuts up lol.
Through this journey, I have learned to take it day by day. Stop worrying about what the future will hold for him (if that’s possible) and learn to live in the moment. I learned that I just need to give Elijah the best support he needs now, anything else we can address when the time comes. Elijah is such a sweet loving child and brightens up any room he is in. Through all the diagnosis, visits, medications, therapies, he doesn’t let 22Q stop him in any way and goes after what he wants. Elijah currently does karate, swimming, soccer, baseball, and wants to start basketball next year.
To all those parents hearing the diagnosis for the first time: Breathe. It will be okay. Don’t compare your child to another, try to focus on the moment and not worry so much about the future. Just live. Give Support. And Fight for your child. You as the parent knows what’s best for you child.