(Posted June 8, 2021)
Noah was born in Texas. Although he was tiny at birth, there were no initial concerns. He was a very snuggly baby and enjoyed watching his older brother. He is currently 7 years old, and in 1st grade. He is very loving and has always been very affectionate.
Noah was slow to develop, and this started to show itself by 6 months. By 9 months, he began physical therapy. At about 18 months, his wonderful physical therapist recommended that we consider genetic testing to further investigate his low muscle tone and motor delays. We were referred to a specialist, whom we saw first when he was almost 2 years old. From there we saw lots of specialists. We soon found out that he was aspirating thin liquids, and we had a few scary months of thickened liquids, e-stim therapy, and swallowing tests. We lived in fear of a substitute daycare worker or well-meaning person giving him a drink of thin liquid. Thankfully, treatment worked and he no longer needed thickened liquids. He learned to walk at 18 months and began to use words at around 2 years old.
After 6 months of fighting with insurance, Noah received his diagnosis of 22q11.2 deletion syndrome at age 2 and a half. We were relieved to find out early on that he has no heart or kidney issues, and his immune system appeared to be working well. Most of Noah’s challenges were related to motor functioning and speech development.
Because of my career as a speech-language pathologist, I came in contact with another SLP who specialized in 22q. From there, we met her wonderful cleft palate team, and Noah had pharyngeal flap placement surgery at age 3. Meeting Mrs. Dianne Altuna changed the course of Noah’s treatment plan and our lives, and we are forever grateful that God arranged many, many events to allow us to meet.
Noah is in 1st grade at a small charter school, at which he is very well taken care of. He received speech therapy services through the school, but was dismissed this school year because of fantastic progress (helps when your mom is a speech therapist, too!). He is currently on a 504 plan for ADHD. Noah’s wiggles and short attention span are his main challenge in learning right now. Noah receives regular instruction at a typical public school.
Noah has regular bloodwork to check his calcium. He was discharged from PT, OT, and speech therapy when he was in preschool. He takes daily fiber, and always needs to be prompted to eat more; however, he is very healthy overall. We are so thankful. Noah also just began medication for ADHD, which is helping school a lot!
Noah taught himself how to do cartwheels and handstands, so his parents enrolled him in gymnastics. He can walk up to 20 feet on his hands. Noah also loves soccer and t-ball. He has a natural throw, and can throw farther than his older brother and his mother. His daddy is very proud! Noah loves gymnastics. He also likes to have Nerf wars with his brother. He likes to watch his favorite YouTubers – Ryan from Ryan’s World and Stephen Sharer from Share the Love. He also likes Pokemon.
Because Noah was so young at his diagnosis, doctors’ offices and appointments are very easy for him. He is even brave during bloodwork appointments. He knows there is often candy at the end of the visit. One office typically sees adults and did not have candy available, but Noah charmed the receptionist and had a bag of candy hidden specially for Noah in her drawer. Noah definitely knows how to turn on his charm, especially when candy is involved.
As parents we have handled the challenges of the diagnosis by relying on God and the assurance of His goodness, no matter what. It was very scary in the first few months. There were so many unknowns and reasons to monitor and test. Noah ushered us into the world of special needs parenting and we did it the only way we knew how to – by trusting God and His goodness. Now Noah’s story is part of our story, part of our testimony to others. We have found a special insight into other families of kids with special needs, and we love the privilege of connecting and praying with them. Noah’s experiences and tests have also added to my clinical knowledge and judgment. This experience and insight has made me a better speech pathologist.
Noah does not follow a specific diet. He must take a double dose of fiber daily, and we try to focus on calcium-rich foods.
When Noah was on a t-ball team, he was the best kid out there. He knew the rules, he worked hard, and he had the best throw. I watch him play ball and then turn cartwheels, and I am so proud and amazed that this was the kid with a “Global Developmental Delay” diagnosis and who had to use a gait-trainer to learn to walk.
Be brave! You will likely go to more doctor visits than most grown-ups do in their whole life. You will be a doctor appointment expert! Trust the doctors and therapists, and trust mom and dad to help keep you safe and healthy.
Early intervention is so important! If you don’t have clear answers from doctors, ask more questions. Push for answers, and follow your parental judgment. Be very forthcoming and upfront, and expect providers and professionals to do so also. Doctors and therapists do not always know as much about 22q as parents. We have the honor of educating others about our children’s unique capabilities and experiences.
Find community. Find another family walking the special needs journey. It is a completely different path than families with typical kids. It is nothing to be ashamed of, but having someone walk with you is so comforting.
Keep careful records of your child’s appointments and results. Put together a (big) notebook and take it to all his appointments. This will help when applying for state assistance and insurance. It will help when communication between doctors is important, you can provide the information needed right then. It also sends a strong message that you are an involved parent and you expect clear communication from your child’s providers.
And finally, pray. For you created my inmost being; you knit me together in my mother’s womb. I praise you because I am fearfully and wonderfully made; your works are wonderful, I know that full well. My frame was not hidden from you when I was made in the secret place. When I was woven together in the depths of the earth, your eyes saw my unformed body. All the days ordained for me were written in your book before one of them came to be. Psalm 139:13-16. God made your child for a specific purpose and He works all things together for his glory. Look for God and go to Him with it all – in your pain, in your grief, in your joy, and in the victories. Trust Him through it all.
Our goals are to see Noah pursue his passions and live a full life. We will teach him to be independent, caring, kind and a man of faith. We want to see him successfully navigate his life at school into a good life as an adult.
I wrote this at the time of initial diagnosis. It was bare heart and scared raw emotions at that time and I hope it can help others.
We have finally received a diagnosis. Noah has a genetic disorder called 22q11.2 deletion syndrome. It’s sometimes called 22q deletion syndrome, and used to be known as Digeorge syndrome and Velocardiofacial syndrome. Classic characteristics of the syndrome include problems with the velum (soft palate) and heart, and facial defects, such as a cleft palate. There is a huge number of other signs and symptoms, including compromised immune system, kidney problems, behavioral problems, learning problems, etc. Google it, I dare you. It’s a little overwhelming.
We saw the geneticist today. She confirmed what we prayed for, hoped for, that it is a fairly mild case. He does not appear to have many of the more severe defects. He doesn’t have a cleft palate, he doesn’t appear to have heart problems, or weakened immune system. Praise God. We now know why he was delayed in so many areas, why his muscles are so weak, why he used to leak water out of his nose when drinking, why he could be taking small amounts of liquid into his lungs when he drinks. We know why he was small at birth, and barely on the growth charts (but ON them, praise God!). We have an answer, and an answer is what we prayed for. We have an answer relatively early. The average age of diagnosis is 6.5 – 7 years. Thank you, God, for those extra 4 years of intervention. Thank you, Father, for the therapists and physicians along the way.
The next step is to rule out. Lots of things to rule out. Noah will have his heart checked, his immune system evaluated, his hormones studied, his swallow X-rayed (again), his kidneys ultrasounded, and he will be looked at by an ENT doctor. He will be followed by the geneticist (LOVE her) and the developmental specialist. He will continue in occupational therapy, physical therapy, and will begin speech therapy (officially, not just from mom), in a couple of weeks. And we will see. We will watch. We will pray. And listen – to our God, who WILL direct our path and who WILL walk us through this (I know this because He promises this in His word). We will listen to the doctors, to our gut. When Noah gets older, we’ll listen to him. We will pray against the RISKS. Risk of mental health problems, behavioral problems, seizures, scoliosis, obesity… We’ll pray for progress. And we’ll thank God. For what could’ve happened, but didn’t. For who our Noah is today and who he will be in the future. We won’t think in “what ifs,” which can be dark, scary, open-ended, uncertain. We will think in “even ifs.” Even ifs have closure, a solution. EVEN IF he has growth deficiencies, You, God, are with us. EVEN IF he’s missing a kidney, You will strengthen us. EVEN IF all my worst fears are true, God is still God and I still am not. God has my benefit at heart. God lights my path. God adopted me, redeemed me, saved me and loves me. I am His.
I struggled some with sharing this. I don’t like to put negative things on Facebook. But, if I can get one more person to pray for my son. If I can get support from someone experiencing something similar. If I can be an encouragement to another mom, another parent. Most importantly, if I can point one more thing in my life to my heavenly Father, I will. Noah is a walking, talking, breathing, giggling, representation of my faith. He’s part of my testimony. He’s a reminder that God’s grace is evident, even in trials. He’s God’s tool to make me grow more like Jesus. He’s teaching me peace beyond understanding, my NEED for spending time and prayer with God. Scripture memorization. And many, many other things.
So now what? What does God want me to do with this information? How does this unexpected turn of events alter the course of my life? Do I start a blog? Do I join a local chapter of a 22q Foundation? Do I START a local chapter or support group?
For now, I will pray. I will cherish the sweet hugs and giant kissy lips I get when I tell him good night. I will pray. I will listen. I will walk by faith.
Thank you, family and friends, for praying and caring for Noah and for our family.
“Be strong in THE LORD and in the strength of HIS might.” Ephesians 6:10