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One of the first questions people ask when they hear about Lila’s 22q Deletion Syndrome is how we discovered her diagnosis. I’ve been reflecting on a lot of things lately, and I wanted to share this part of Lila’s story. I hope that it can help those of you struggling through a hard time, or questioning why something is happening. This is quite long, but if you have some time and hang in here with me I hope that you can be as encouraged by the Lord as we have.
8 months ago today, Philip and I got a call that would set into motion a series of events. Lila was just 10 days old, and our pediatrician was calling to tell us that she had gotten a positive on the Illinois State newborn screening - that tiny little heel prick they do in the hospital. The positive screen was for SCID - severe combined immunodeficiency disorder. It is incredibly rare, and IF Lila were to have it, her first little illness would prove deadly unless she had a stem cell transplant before she was 3.5 months old. The only hospital in the state that could do the proper testing was Lurie Children’s in Chicago. We got the call Friday, got an appointment for Monday, and the immunologists at Lurie told us to keep her inside and away from all people until the appointment. I wasn’t allowed to breastfeed or give her breastmilk on the chance that my milk contained a virus that could get her sick. My world stopped spinning when we heard all this. I cried. And then we prayed, and prayed, and prayed. And as scary as this all was, we had faith that she didn’t have this awful disease.
We had our appointment and learned that Lila had less than half the normal amount of TREC cells (a type of t-cell that protects from infection). But she at least had some! They took vials of blood from my tiny new baby and rushed them off to the lab, and we returned home to wait. A little over 36 hours later, we got the call from one of the immunologists. Lila did NOT have SCID! Her TREC cells were still lower than normal, but had increased. Praise God!! Oh the tears of joy I had!
One month passed by, and on Tuesday December 11th I received a phone call from another one of the immunologists we had seen. Dr. Kumar asked if I remembered the genetic testing they had run. I actually hadn’t until he mentioned it. And this little detail may seem small, but looking back I see God’s protection written all over it. We had simply forgotten about the additional testing that was run. And instead of having that worry in our minds for a month, we enjoyed those blissful (and exhausting!) newborn days. I firmly believe the Lord wiped it from our minds. He gave us that month stress free - before tests and doctors, feeding tubes and therapies, insurance battles, and so many questions.
Dr. Kumar explained that the genetic testing showed Lila was missing part of her 22nd chromosome. This is called 22q11.2 deletion syndrome, also known as DiGeorge Syndrome. Because each person diagnosed with 22q presents a unique set of the possible 180+ symptoms, it is difficult for even the best doctors to recognize. Many families search for years before finding a diagnosis. Dr. Kumar explained that Lurie has a 22q Clinic with providers who specialize in this syndrome and they would have us come in within a week for further testing and to meet with many specialists. I remember hanging up the phone, my mind in overdrive, and as scared as I was, I also felt like a puzzle piece had clicked into place. Lila wasn’t gaining weight well. She would spit up through her nose constantly, and more so than any baby I’d ever seen. Little concerns here and there were suddenly making sense. And then the fear kicked in. What did this mean for my child? But we knew we had to continue to trust in the Lord. He had clearly been protecting Lila and we knew He would continue to.
We went to Lurie the following week to meet with so many doctors and put our baby through a barrage of testing. We discovered her heart defects. And we learned through a barium swallow study that as Lila would try to swallow, the milk would go into her lungs (aspiration). And it wasn’t just mild aspiration, it was severe. I stood there in tears as I had no idea she was aspirating so severely. I learned it was called silent aspiration. And everyone was astounded that she hadn’t gotten pneumonia! She hadn’t even had a single cold since being born! How could this be? We knew without a doubt that God had protected her once again. A tiny baby who had a weakened immune system was aspirating so severely and yet had not gotten sick? Not even a fever? It was a miracle. Since it was not safe for her to eat orally, she was admitted to the hospital and her NG feeding tube was placed. Thus began our journey with 22q/DiGeorge.
This has been a hard road to walk. But Philip and I continually find ourselves praising God for this early diagnosis. Waiting to hear if my newborn baby may have a deadly disease was excruciating, and yet I am SO thankful for that positive newborn screening! Without it, how long would it have been until we knew about 22q? How would we have ever convinced insurance to let us run $10,000 in genetic testing? How sick would Lila have gotten? And how crazy that I find myself constantly saying, thank you Lord for those 5 days spent waiting because it led us to where we are now! Because of this early diagnosis our sweet girl, despite all her health challenges, has thrived!
So friends, I hope that if you are struggling at a time in your life, that you will remember that God is using even the most painful of experiences for His glory. I do know that some situations will never make sense. Some things will never be fair. But Lila’s situation has reminded me to look for the good. To look for those little miracles.
This morning we had a tough doctor appointment, and are in the process of talking with her doctors and making some important decisions regarding feedings/how she eats. It’s overwhelming, but we continue to keep our eyes fixed on the Lord. These photos are a reminder of God’s goodness. The photo on the left is Lila and I in the hospital in December. And on the right is my happy, chunky, growing baby girl