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This story is written by my dear friend Jana. She introduces us to her life with her son who has been diagnosed with 22q11.2 also know as DiGeorge Syndrome and VCFS -Velo-Cardio-Facial Syndrome, and Shprintzen Syndrome. She blesses us by sharing, with raw emotion, her experiences as she parents her delightful little boy. He faces a future that can only be described as unknown. Those of us who are parents can only imagine the terror Jana and her husband, Bill, must have faced with each new diagnosis, each obstacle that Jana describes below. I can't wait for you to meet her. You will find her strength unparalleled, her honesty is pure and will send a chill up your spine, and her powerful story will touch the depths of your heart forever. Clearly she is the kind of mother we all strive to be but hope we never have to be.
This post is long but every word is a blessing so please be sure to read through to the end. You will not be sorry. Meet Jana:
I'm your average 45yr.old mom, but recently I found myself compelled to do the not so average thing (at least for me). I found myself sitting in a chair similar to a dental chair but instead of soft calm piped in smooth Jazz, the music was something loud, angry, and unfamiliar. Just like this whole experience.
I sat there a bit nervous but resolved as I extended my right arm for inspection and last minute preparation before my procedure was to begin. A sweet faced, very professional young man named "Saw Blade" explained a little about what to expect, with his gloved hands and little gun like device. He put the machine to my skin and begun to outline what was to become a strand of D.N.A. with a break in it. Inside the break is a cryptic series of numbers and letters. 22q11.2, in the background flames and my families initials in the thick of the fire. What would drive a seemingly reasonable (even boring vanilla) person so far out of her comfort zone?
The real story started 8 yrs ago. When my husband and I were considering adopting our 2nd child. We decided when our child was 3 we would start working on it. The day before her 3rd birthday we found out I was pregnant. We were stunned, my husband made me pee on 3 sticks before he would believe it! I was 37yrs. old but in good health. It was a very straight forward pregnancy, I didn't even get sick. All my check-ups were fine.
He was born 10 days early and weighed 8lbs. everything was good, until it came to feeding he just could not latch. We saw all kinds of lactation people. We finely found 1 bottle that worked for him so I pumped for 4 months, determined to get at least some breast milk in him.
On his first check-up his Dr. looked him over listened to his heart then again and again and again. Finally the Dr. looked up and said "your child has an issue with his heart. I'm sending a referral to Children’s Hosp. please make an appointment soon." I suddenly felt sick.
The cardiology team at Children’s ran test after test, indeed he did have an issue with his heart. He had 2 little holes that were creating a short cut through his heart. The Doctors figured that was causing his feeding issues, he was just having to work extra hard. His condition was not life threatening, yes he would need open heart surgery but it was best to wait until he was a little older, stronger, bigger.
All the while, as we waited, eating was still a struggle for him. He had reflux, he was extremely constipated, had constant ear and sinus infections, eczema, his breathing didn't sound right to me. I had remembered reading heart and asthma can go together (later we found out he did have asthma), and some other quirky things that made me remember something else I had read. If a child has several health issues it could possibly mean that all the issues are part of a syndrome. I brought this up with his Dr. I was told that the issues would be more pronounced and all of his issues were very common for kids his age, but in the back of my mind that always nagged at me.
We made our monthly appointments to monitor his growth, development and heart. At a 1 yr. he looked more like he was 6months old. He definitely fell in to the category of "failure to thrive" In my mind that meant I was a failure and why couldn't I get this baby healthy? I was so happy to have this beautiful gift of a child but was also feeling so guilty, anxious, depressed.
Because of his "failure to thrive", the cardiology team decided that his heart could not keep up with his growth and development. Now was the time to start planning his surgery. The date was set for 2months later. This gave me plenty of time to worry, obsess, and try to keep him as healthy as possible. I insisted everyone become compulsive had washers, would glare at anyone that sneezed in his direction, pumped him full of vitamins. I was pretty much a big stressed out pain in the butt. My worst fear was to get to the surgery date then have to cancel because he wasn't well enough, then reschedule and wait, worry, plan time off arrange care for our other child and mentally prepare myself for this again, I was afraid I might snap if that happened.
We were able to keep him healthy enough to proceed with the surgery. The surgeon explained what was going to happen and how this was a very basic surgery as far open heart surgeries go and assured us it would go smoothly.
We helped prep our child by putting him in the standard issue hospital gown and booties and sat and held him tight, kissed him a 1000 times in that sterile little cube of a room hoping and praying that there would be many more years of kisses to follow, when this terrible thing is all over.
We snuck in our last kisses and handed our child over to a fully gowned nurse and another nurse handed us a pager. I numbly watched them disappear down an endless seeming corridor and through 2 huge double doors marked Staff Only, they were gone and the waiting started.
We went to the cafeteria bought food but couldn't eat it, looked at a magazine but couldn't read it. Gazed into the fish tank and through it to the other side where other parents were sitting and waiting and wondered what their story was.
At some point the pager buzzed my husband went to a special phone we were instructed to use a few minutes later he returned to tell me that his heart had basically been turned off so they could work on it, the surgery was under way and going well. 2 hours passed and the pager buzzed again and back to the phone he went. The surgery had gone well they were closing up we could meet our child in I.C.U. in about an hour, so we shuffled off to another waiting room with another fish tank to stare through. Again the pager went off, this time we were instructed where to find his room.
Until I turned the corner and saw my child looking so small and foreign, I don't think I showed any emotion for fear that the flood gates would open and the river of tears would never stop. Seeing him so small with all the wires and tubes, even though I knew that is how it was going to be, that was the first crack in my facade of stability.
The 1st night was rough; he was in a room with a baby that had a similar surgery. The nurses called them the dueling banjos, they were back and forth all night, trying to sleep in the I.C.U. is like trying to sleep in a casino. By the evening of the 2nd day we were sent to a different floor and bless those nurses they put us in a private room, they knew I hadn't slept in over 24 hrs. They also knew I would not leave. Finally he was stable and I was getting there too.
He went in for his heart surgery on a Tuesday and came home that Friday. Finally home in my arms in my bed I held that little boy and cried my eyes out and thanked God that it was over and his heart was mended. But, really, that was just the start of a new chapter in our story...
He healed well, he perked up some, but still he just was so fragile. His sister would get the sniffles and he would get it too but would end up on antibiotics for months at a time, over and over again.
By the time he was 2 he still was barely making sounds, let alone anything close to a word. He was placed in what is called a birth to 3 program to help with his speech. By 3 he was place in developmental pre-school for kids with a wide range of challenges. He was learning and he was getting some words but very slowly. During this time he also had his adenoids out and ear tubes in (2 times). Still he was so sick at 4 our Peds Dr. sent us back to Children’s to see an E.N.T. more testing was done. One of the tests that they did(it has a fancy name) but they refer to it as the noodle test, fully awake a camera the size and shape of a piece of spaghetti was placed down his nose into his throat and then he was asked to say a bunch of words, might I add not a fun test. You could see it on the monitor the pallete portion of his throat was not connecting the way it should when some sounds were made. The Dr. removed the tube and in one flat and drawn out sentence we were told our little boy had a "insufficient pallet", need to have surgery to correct this and it was part of something larger, a syndrome called V.C.F.S. or 22q11.2, or DiGeorge syndrome, do you have any mental illness in your family? Because most children grow-up to have some sort of mental disorder most commonly Schizophrenia.
I just sat there shocked the air knocked out of me, I thought Heart Surgery was the pinnacle of difficulties we had to face. This is when I knew there were more chapters to this story.
He had the surgery (with another fancy name), but referred to as the speed bump surgery, basically building up the insufficiency to close the gap. During the surgery they also did a blood test called the "Fish Test" to determine for certain if he did have 22Q11.2.
By this time I wouldn't say we were pros at the whole surgery thing but we did know the drill, what to bring, best parking, the quietest waiting rooms with the best fish tanks, the little things help get you through it.
The surgery went well this time he was home in a day and a half. It was amazing, suddenly you could understand him so much clearer and over the course of the next year he became healthier and has not been on antibiotics in 2yrs. A few weeks later the results of the "Fish Test" came back and indeed he did and does 22q11.2
He was just 5yrs.old when we learned of 22q11.2 and we have been on a journey ever since. At first it was just trying to make sense of it all. Why didn't his peds. Dr. take me more seriously when I wondered about a syndrome? Why didn't the Cardiology Dr.sketch it? As I learned more about it he had many of the early characteristics. Heart defect, feeding problems (because of his pallet), constipation, immunity problems speech and language difficulties. They had all that information and didn't put it together? Why, why, why? I was very angry and I mourned for a good year over the life he may never grow up to have.
I hate the computer but last January my husband got me set up on Facebook. I've found a community of people with children with 22q and so much information about it that has helped me to feel like I can navigate this.
What I learned about 22q11.2 is that it is a chromosomal deletion, meaning that in his strand of D.N.A. the 22nd segment there is a missing piece, Because of this missing piece over 180 different anomalies can occur but in most cases 20 to 50 max. Every case looks different. Turns out my child’s Peds. Dr.s has one other child with 22q. That child’s problems are completely different.
It's been so great that his health has stabilized because his issues now are learning and education. To look at him you would think he is like most kids that are about 5 or 6 but he is almost 8. Explaining his learning issues that come with 22q has left educators staring at me blankly, many with extensive training in special ed., and have never heard of it. So if they haven't heard of it how can it be real?! I have spent countless hours finding them the proof they need to help support him.
He has a sound I.E.P. (independent education plan) in place he continues to learn at his own pace. Despite having challenges understanding some concepts and the dynamics of other kids his age, he’s made friends. The gifts that he has been given are he is truly the most thankful, kind, compassionate, pure soul. Really funny too. When people find out he is my child they go out of their way to tell me how special he is and not just to be nice, he has touched people.
I'm a control freak and I know it, having all this uncertainty in my face has made me rethink things....
First of all control is an illusion, we don't know what is going to happen tomorrow no matter what the state of our chromosomes are in. He may grow-up to need extra help; he could develop other health problem later on. Until then I'm going savor every moment of his delicious childhood. I'm going to continue to learn and teach, find creative ways through this. When I'm discouraged remind myself I have more strength than I've given myself credit for.
What I would like to see is in the baby books is more info about genetics. If your child has a Heart defect or a pallet issue or both It is rare but it could be a part of something larger a syndrome. 22q11.2 is 2nd to Downs. The statistics are between 4000 and 1500 births have this syndrome. That is a huge range they think many kids slip through the cracks like mine and go either undiagnosed or miss diagnosed.
Trust your instincts, fight to get a referral to a geneticist, these Dr.s know what to look for. The earlier the interventions your child can receive the better overall picture you and the Dr.s can have of what your child needs.
So this takes me back to the very beginning and my day with "Saw Blade", maybe it makes more sense now maybe it doesn't. For me to have a large tattoo on my arm is a way to express my feelings, stir up some questions, a reminder to myself that I am my child’s advocate and champion and maybe people will think I'm a little of a bad-ass and take me seriously.
Famous Quote by Jana: "I feel like by writing it out, I'm a bit freer and I can move forward with the next chapter whatever that may be."
For more information please visit these websites:
Questions to Jana and Bill can be directed to her through my Contact Me page. Under subject just type 22q.