Sunday, February 9, 2014

The Diagnosis: 7q11.23 Duplication

The diagnosis of 7q11.23 duplication was a relief but was coupled with severe anxiety, deep seeded guilt, anger, and grief. It was a relief to finally know it wasn’t all caused by my lack of parenting skills and inability to follow advice. It was a relief to know that we could now know what to expect, to an extent, and form an action plan. But, the grief that is coupled with a diagnosis is something no one ever tells you. As a first time mom, the grief came in a great engulfing wave.

I remember sitting in church, the Sunday after the doctor called and before our Monday appointment and sobbing. I’m sure some in church that day rolled their eyes because they told me as much later. I was surprised to hear from friends that I was making a big deal out of nothing. In fact, I still hear it, today. But, if you ever want to know your true friends, then announce a rare diagnosis. The true friends will come to your side and love you and pray with you and encourage you. The others will distance themselves. True love shows up in desperate times.

I sat in church by myself. My son was in the nursery and my husband worked nights and weekends. He wasn’t around much. So, every Sunday, I sat by myself in church with friends on either side. I may have been by myself but I was never alone. On this day, they wrapped their arms around me while I sobbed. I sobbed because motherhood was never going to be the same. Motherhood was never going to be as I imagined it. I sobbed because my child wasn’t perfect. I sobbed for fear of the unknown.

It would take me years, literally years, to work through my grief. No one tells you that grief accompanies a diagnosis, whether it is a deadly diagnosis or not. You carry it with you when you go to the pharmacy to refill more meds than most senior citizens. You carry it with you when you attend therapy sessions 4 hours a week, and when you spend hours on the phone with the insurance company to get them to cover those therapy sessions. The grief is not allowed because you “should be happy that your child isn’t dying.” (Yes, that has actually been said to me.) But in truth something did die: The death of all that was dreamt during nine months (8 months and 1 week for me) of pregnancy. The dreams of motherhood died.

A occupational therapist gave me permission to grieve. She traveled the road herself and explained that dismissing the pain does not lessen it. It is still there. She gave me permission to acknowledge the grief and anger.

Motherhood takes on a new challenge with a diagnosis. It takes on a new definition. I was relieved that with a diagnosis we could follow through with therapies, in hope of achieving a normal life one day. But, I was angry that while friends were at the park, we were at therapy. I was still asking God why. Why of all the people did I have to be the one to experience the life of a special needs mom? There were others more qualified. Why me?

It was me because I had the luck of the draw. The dupe is a fluke of nature. Unlike so many other genetic disorders, this one isn’t caused by anything other than confused t-cells who line up incorrectly. One ends up behind another creating a duplication when he should have been somewhere else in line. I like to demonstrate it by clasping my fingers together with the fingers of one hand intertwining with the fingers of the other. This is how it should be. Your fingers should perfectly intertwined. But, the duplication is as if you have two fingers from the left hand in the same space on the right hand.

The question of why still lingered until I realized that we are in a fallen world. The world has been in a decline since the beginning. Genetics are no different than anything else on this earth. They are in decline as well. I can take the blame for my child’s genetic disorder, or I can realize that it is like the difference between a RED Indian Paint Brush flower and a PINK Indian Paint Brush flower. There is nothing wrong with the pink flower. It looks different, but for some reason it has a different gene making it a different color. It is just part of nature. Our genetics are the same way. It is just part of nature. We are fallen beings with imperfect bodies and imperfect genes. We are full of sin and in need of grace and love. Children with genetic disorders aren’t any different than that pink flower and not any different than the rest of us. They are in need of grace and love. I consider myself blessed to be able to give grace and love to imperfect being.

Saturday, February 8, 2014

The Climb

Within two months, which is a miracle to say the least, we were in to see both, the developmental pediatrician and the geneticist. We saw the developmental pediatrician first and learned a lot. The appointment was two hours and the most exhausting doctor’s appointment I have ever been too, except for the follow up appointments which were just as grueling. She tested and tested and found what I already knew. He wasn’t anywhere he needed to be developmentally. She immediately said we needed to see a geneticist which we were already seeing just the next week. She ordered us to bring back the test results and anything else the geneticist could send over and come see her again in another month or two.

 The geneticist was an incredible doctor. She sat down with us and explained what she needed. She needed a long, long list of family medical history. I started digging immediately and talked to family members that I hadn’t spoken to in years. I put together a history that would shock a genealogist. The problem with family medical history is that no one wants to admit they have a medical history. If you know you have diabetes in the family, then you have to eat right long before it becomes a factor. I found out that I have diabetes in the family and am determined to give it a run for its money.

With family history in hand, we sat down with the geneticist for several hours. It was close to three hours when we left her office with orders for blood work. You would think the easy part would be the blood work but it wasn’t. Apparently along with no growth, we were also dealing with dehydration. We went to three different places to have blood drawn and finally ended up at Children’s Pediatric Hospital where the nurse took blood from the only place she could, his head. I cried. He didn’t.

Only a special needs parent knows the relief of test results, it is odd to explain the feeling that comes with knowing what you are dealing with. The geneticist called on a Friday afternoon with a string of letters and numbers and a website. She made us an appointment for Monday and told us to google and research what we could on 7q11.23 duplication. She gave us one medical website with a synopsis to get us started. That, may I say, was one of the longest weekends of my life!

There was very little out there about 7q11.23 duplication, but that as the geneticist explained was because it is 1 in 100,000. It is less than that when one of the parents carries the gene, but we didn’t. She tested us to make sure. Neither my husband nor I had the gene. My son was a “de novo” case or first of its kind (in our family, anyway). There were others out there with the dupe but it would be a while before we found them. The geneticist sent us away with one and only one study published about the dupe with a promise to keep looking. The discovery of this micro-duplication was in 2005. The first study was published a year or two later. This was 2009. The next big breakthrough study wouldn’t come till 2010. The initial study was of one child with the dupe. He had seizures and disabilities both mental and physical, and he had a severe speech delay and low muscle tone.

We took what we had and ran with it. We saw every specialist except the podiatrist. We ruled out every physical health issue that was in the study. It was on a visit to the cardiologist to rule out any heart issues that God encouraged us with the testimony of someone who had walked a path so similar to ours. She was the cardiologist! She explained that she had numerous delays and health issues because of an illness her mother had while pregnant. As a result, her speech was slow and choppy. She was small in stature and explained that she had very poor balance. But, she didn’t let any of that stop her. She rode bikes and snow skied. And, she went to medical school. She said she always had to work twice as hard as any of her class mates. She had to study more and take more time on her tests. But, here she sat a pediatric cardiologist. She explained that she never had good balance but that didn’t stop her from learning to ride bikes and snow ski. She said she fell a lot more than everyone else, but she just gets back up and keeps going.

My husband and I sat in the car letting her words soak in. She sent us away never to return. There was no heart problem, but her words resonated with us. Of all the doctors and all the diagnoses and all the treatment plans, that visit on that day with that cardiologist will be the most memorable. God had spoken through a small woman words of encouragement that to this day get me through the tough challenges. God was in it! God was in our visits to so many specialists but especially that one. After all our visits and evaluations, we determined we were on the better end of the duplication spectrum. He had anemia, acid reflux and constipation from low muscle tone, severely delayed speech, and delayed fine and gross motor skills. We wouldn’t know about seizures until they showed up. We had to wait it out till he was 5 years old. If he didn’t have seizures by 5 then we could consider ourselves seizure-free.

Tomorrow: Part 3, The Diagnosis

Friday, February 7, 2014

The Beginning

My son will be six years old in a week. I thought it would be a good time to recap for new readers. Thanks for reading!
I really began to wonder if there was something larger going on with my son when he was 2 months old. By that point we had been through a lot, he and I. He had acid reflux, constipation, struggled to nurse, never slept—And by never I mean our nights were from 11pm to 2am. Then he proceeded to cry from 2am to 6 am. He didn’t nap. We just had moments of no crying where we would relax and breathe for a little bit.

But at that 2 month well-baby appointment, the doctor read down the list of milestones for that age, and for each milestone I answered, “No.” No. No. No. All the way down the list. I chalked it up to the fact that he was born three weeks early and might be behind developmentally by that length of time. I told my mom about the appointment, and we talked about it. I said, “I need to keep an eye on his milestones. It could be that he’s just behind because he was three weeks early or it could be something bigger.” My mom, the ever encourager, agreed.

 At his next well-baby, I answered a joyful yes to the first milestone on the list and no to all the rest. I pulled up the milestone chart for myself and could see we weren’t making any progress. By this point, I was getting a lot of advice from family, friends, and even perfect strangers. His six month well-baby wasn’t much different from all the others. The doctor warned me to keep an eye on him while he was on the changing table as he would be rolling all over the place, and I didn’t want him to roll off the table. That wasn’t anything new to me. While this was my first time experiencing motherhood, it was not my first time to change diapers, feed baby food, table food, and even potty train. My youngest siblings were 11 and 14 years younger than me. I was not completely inexperienced. But, experience told me something was wrong when at 7 months he wasn’t rolling over in either direction, nor was he rolling or moving at 8 months or 9 months. He was also losing weight. By this point I was adding formula to his breast feedings but to no avail. We paid $80 a month to weigh him at the doctor and have them tell us to feed him more. I fed him every chance I got. He threw it up every chance he got. The acid reflux was just getting the best of him.

I decided to take matters into my own hands when he was 9 months old. I started working with him and literally taught him how to roll over from his stomach to his back. He thought that was the greatest thing ever. It took a month for his little muscles to strengthen enough for him to do it on his own. At ten months, he was barely sitting up, and I balanced him all around with pillows to help strengthen his core muscles. I did little sit ups with him till he was too tired to continue. We still didn’t sleep. He was still losing weight. I was still getting lots and lots of advice. Advice sounded like this, “If you would do this, you wouldn’t have that problem,” they would say. I began to think that while I was the oldest of my family with experience, I certainly wasn’t cut out for motherhood. Somehow, God had made a very big mistake. Hadn’t he known that I couldn’t handle raising a child. And, where was He in all this? It certainly didn’t make sense that children who are born perfect with ten fingers and ten toes, could possibly have as many health issues and problems as my son. But, God was there! He was in it all! More about that later, but for now, just trust me when I say God was in it and had a greater plan.

At his 12 month well-baby appointment, I voiced my fears to our pediatrician. At this appointment not he had only met one or two milestones, and he had had two eye surgeries, was on various medications for the reflux and constipation, and now we added no growth since he was 9 months old, and no reflexes at all. You know the little knee tap that makes the knee jump. His didn’t do that. He had none—No reflexes. My baby was almost 1 year old and wear 6-9 month clothing. He had long since dropped off the percentile chart.

“Could there be a bigger picture?” I asked the doctor. “There are so many different issues in different areas and different systems of his body that it just seems like we are missing something. It seems like there is a bigger picture that connects all the dots.” I remember saying that like it was 5 minutes ago. Those words rang in my ears as I spoke them. In an odd way, they were like church bells ringing. There was just no way to miss those words. The doctor agreed and handed me two business cards. One was for a geneticist and the other was for a developmental pediatrician. I had never heard of either one and didn’t even know what to expect. But, as I accepted those cards it was the beginning. It was the beginning of climbing what seemed like Mount Everest.