EVAN - 12 YEARS OLDRetrun to 22q Stories
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It was the summer of 2000. Clint and I already had a beautiful, almost two year-old little girl, Hannah. But the Lord decided that it was time for us to expand our family. When I found out that I was expecting it was right before Hannah's second birthday, and she loved watching Blue's Clues. So we decided to let everyone know about our new addition by having them figure out three clues. The day before the party, my parents came to spend the night. I was running around all day, and I was getting pretty tired, and starting to have some cramping in my stomach. The next morning, I told Clint that I was spotting, and I thought I needed to go to the ER. Well at that point, I hadn't even told my parents about my pregnancy, because I wanted them to be surprised like everyone else. Anyway, I had to tell them so they could keep Hannah while I went to the ER. Well, at the ER, the doctor told me that he didn't think I was gonna miscarry, but I needed to be on bed rest, and to follow up with my OBGYN on Monday. We made it back to our house about an hour before the party was to start. Thankfully my mom, dad, and Clint took over, and did all the final preparations. As guests started arriving, I was laying on the couch with my feet up, and I'm pretty sure they were wondering why I was being so lazy, and telling others what needed to be done. Well we started the game of Blue's Clues... It took them a little while, but then one of my Aunt's said "Are you pregnant?!?" Then everyone was so excited and happy for us. Then I had to tell them about our scary morning, and why I was being so lazy.
For the next few months, everything seemed to be going great! Then when I was about six or seven months pregnant, I started have severe cramping. So it was back to the ER. My doctor was on vacation, so I ended up seeing one of his partners. After being examined, I will never forget the look on the doctor's face!! He was telling the nurse to start me on several different meds, and he looked very concerned. As he was walking out of the room, I overheard him say "her membranes are bulging," meaning that I was at risk of my water breaking. It turned out that I was in preterm labor, and I had polyhydraminos, which means I had too much amniotic fluid. All this was happening around Christmas, and I wanted to go home and be with my family. I asked the doctor if I could go home with the promise of staying on strict bed rest. He told Clint that "if I was his daughter, I wouldn't be going anywhere, because mine and the baby's lives were at serious risk. If my water were to break, with that much amniotic fluid, that the umbilical cord could come out first, and cut off the baby's oxygen, and if it tore away from the placenta, we could both bleed to death." With those words being said, Clint wasn't gonna let me go anywhere. I ended up being there through Christmas and New Year’s.
We soon found out that our baby had hydronephrosis (dilation) of his left kidney. For the next couple of months, I had to wear a T-pump; a machine that delivers constant medicine to stop contractions. The medicine was delivered through a tube that I had to insert with a needle (in my thigh) and I had to change it out every few days. I also had to put on a monitor (that had to be hooked to our phone line) twice a day for an hour each time. It monitored my contractions, and sent the information to a monitoring company, that kept my doctor informed on how I was doing. If I had too many contractions in a certain amount of time, I had to head back to the hospital. I was in and out of the hospital, for the next couple of months, staying a couple of days each time, and I had to have an ultrasound once a week. The doctors decided that they had to draw off some of the amniotic fluid, and they also wanted to do amniocentesis to see if they could find out what was going on with the baby. The test came back normal, so we still didn't know what was going on, or what to expect. From the beginning of the first preterm contractions, I ended up being on strict bed rest for 10 more weeks. That was so hard, especially since I had a two year-old at home too.
Then when I was 37wks, the doctor said to stop the T-pump. He was worried that the baby wasn't handling the contractions very well....about 10 or so hours later, we welcomed our beautiful baby boy into the world! Evan was 6 lbs, and 19in. What a perfect Valentines present! Clint held him first, then I got to hold him for just a minute, and then the nurses rushed him to the NICU, because they wanted to monitor him for a few hours, just to make sure everything was fine. At that point, all we knew was that he had a kidney defect, and we had to follow up with a urologist as soon as possible. Evan and I were both discharged at the same time, and we followed up with the urologist about two days later. He set us up for some test on his kidney's and decided that his kidney was working a little bit slower than it should, but it WAS working; what a relief!!
During the first couple of weeks, I just felt like something wasn't right. Evan was struggling to eat, and every time he did, he had projectile vomiting out of his nose. He was losing weight, and he dropped down to 5.4 lbs. His doctor said he had failure to thrive, and if he didn't gain at least a few ounces in the next couple of days, he would have to have a feeding tube. I was terrified, Clint and I set the clock for every two hours, and took turns trying to feed him. Well he gained about 3oz; so for now we were safe. He ended up not needing a feeding tube, but I couldn't help but compare his milestones to his sister Hannah's, and by six months he could barely hold his head up, and wasn't able to roll over. So the doctor put him in PT and OT. During all this, he stayed sick...by the time he was 10 months, he was getting his first set of ear tubes, but he was constantly going to the doctor, and being put in the hospital, because he had constant ear infections, RSV, pneumonia, upper respiratory infections, etc. His doctor sent us to an immunologist. They said that he had immune deficiency. I had had enough!!
I knew something was wrong!! How can a baby have a kidney defect, failure to thrive, and immune deficiency, hypotonia (weak muscle tone) and many other issues, and the doctors insisted that none of these things were related to the other? I started researching. So I started looking up immune deficiencies in babies, and I came across DiGeorge syndrome. When I started reading it, tears were filling my eyes, it was like reading Evan's medical history in a book!! I told the immunologist that I thought Evan had DiGeorge Syndrome, and I wanted him tested. He and his students smirked and said I was mistaken, and Evan was fine. I said "I want him tested!!" So they said that since I insisted, they would send us to a geneticist.
We had to wait for a couple of weeks for the appointment, but when we got there, I told the geneticist what I suspected. He examined Evan, he looked at everything from head to toe, literally. After he was finished examining Evan, he sat down, and said "I think you're right, but we will do a FISH (Fluorescence in situ hybridization) test to make sure” We went home, and waited.The doctor finally called, and made us an appointment to discuss the results. By this time, Evan was about 18 months old. We were told that the test was positive, and Evan had DiGeorge Syndrome. I was relieved that we finally had some answers, but I was so scared of the unknown, and what was in the future for my precious baby.
By this time Evan was very delayed in his milestones, he didn't start sitting up on his own, or crawling until he was about a year old, and he wasn't able to start trying to walk until he was 18mths. By two years-old, he could only say about five words, and it was very difficult to understand him. Through an early intervention program, we were able to get a ST to come to our house, and help us, and Evan learn some basic sign language, so he could let us know what he needed. I was amazed how quickly he picked it up!!
Very few doctors and nurses around here, have ever heard of this syndrome, much less know how to treat it. That's when I got a computer, and started researching everything I could. I found out that some doctors at Children's Hospital in Philadelphia (CHOP) had started a clinic that specialized in this specific deletion syndrome. Evan was probably two the first time we went to CHOP. It was such a relief to have doctors explain Evan's condition, instead of the other way around.
After our first visit to CHOP, we found out that Evan had VPI (velopharanyngeal insufficiency,) the muscles in his soft palate and throat didn't work the way they should. That's why he wasn't able to talk, and why everything he drank would come out of his nose. The doctors told us that he would need VPI flap surgery when he got older, to fix the problem. They also let us know what other things needed to be checked when we got back home. One was his heart; it turned out that he had a heart murmur caused by a hole in his heart called a PDA. Thankfully, it was repaired by catheterization, when he was two. Then they said we needed to check his spine, because it was common for people with 22q to have defects in their C-spine (neck); it turned out that Evan didn't have any issues with his neck, but the doctor noticed that he had some deformity in the T-spine (Toracic), and L-spine (Lumbar). He had about six vertebrae that fused together on the anterior side of the spine, and it was causing kyphosis.
When he was three, Evan underwent spinal surgery, to fuse the exterior side of the vertebrae, to keep his spine from curving over. Evan was in a body cast, with one leg in a bent position, to keep his spine straight until the graphs were able to fuse. He had to wear that for several months, and after that, he had to wear a brace for about a year. Two weeks after surgery, my determined little boy was walking with one leg straight, and the other bent in a cast.
By the time Evan was three, he had already had three sets of tubes in his ears, which all fell out, and left perforations in both eardrums. His adenoids removed, heart surgery, and spine surgery. We went back to CHOP to have his tonsils removed, and to do his palate surgery, when he was five. Which made an amazing difference in his speech. He is 12 years old now, and he has had a total of 13 surgeries. He gets IVIg infusions every month, because he has such a weak immune system. He has hypoparathyroidism, growth hormone deficiency (has to have a shot six nights a week). His PDA in his heart is closed, but we have to follow up with cardiology, because he now has what is called a dilated ascending aorta arch, which means that his aorta in his heart is enlarged. That is just a few things my little buddy has had to endure in his short little life.
Evan absolutely loves music, and drawing. He is very artistic, and he can get the computer to do things, that we didn't know was possible. He has big dreams for his future!
Even though this syndrome can be overwhelming at times, it has been a blessing too. I feel that it has brought our family closer, and most importantly, closer to the Lord. Without God's grace, I don't think we could have gotten through some of the hardest times. It has also given us a new perspective on life, and a greater appreciation for the little things!! We still have many mountains to climb, but I know what ever comes our way, He will be there to guide us.