Wednesday, August 22, 2012

Abnormal Perfection

We got back from our trip to Minneapolis last night. We had such a great time! I can't explain how wonderful it was to take a trip as a family. Some of the highlights from our trip included...

Stopping at Park Rapids on our way to the Cities to watch my dad run a half marathon.

Way to go grandpa!!

Figuring out how to change a blowout diaper in the confinement of the back seat. I have never loved my husband more :) If it grosses you out, I apologize, but it's our life and this is my blog ;)

Ryan: "Landon this is not the time to learn how to roll!" hahaha

Watching Landon sleeping and thinking about how far we have come since the last time we drove those roads.

                                         April 24                                               August 19

Same little love bug, just with an extra chin now :)

My Mom and Aunt watched Landon so Ryan and I could enjoy a night on the city.

 Our view from outside our hotel!

Landon was such a good baby while we were gone and we were so happy to get back to him in the morning. Before we left for his appointment we took him outside and played in the yard. The verdict is still out on what he thinks of grass.

He had a great time and loved being coddled and loved by everyone. 

We went to his geneticist appointment on Monday not knowing what to expect. I was amazed at how many memories came back just from driving around, but then when we actually parked and walked into Amplatz it was like daja vu. The sounds and the smells... everything, the water faucets. You don't realize how everything is engraved in you until you go back to a place where you have experienced such strong emotions and trauma. That building became our home and held our heart for almost a month. I was surprised by the sudden urge I had to take Landon and get out of there. Even with how nice the interior is and the good experiences we had with the doctors there, it was not a place we wanted to be and I definitely felt the strong desire to be able to leave with my family again. 

This time was different though. We did not need to take a picture for our access badges, we did not go to the 4th floor and walk the halls of the PICU again. No, not this time. We went up to a floor we had never been at, checked in and had a short wait before we were called back into a room.

Soon a young man came in and told us that he is a med student studying under Dr. Calhoun. He sat down and told us that he has done his homework on Landon. I was comforted by that statement until we had to correct him and pretty much tell him everything about Landon's medical history. He asked us every possible question about Landon's development over the last 4 and a half months. Then he went over with us what they found when they did genetic testing on Landon after he was born.

To fill you guys in, after Landon was born we were told that they found a chromosome abnormality and a geneticist wanted to speak with us before we left. We wanted to speak with the genetic counselor who diagnosed Landon, but she was unavailable on the day we were able to be discharged. So we met with someone else, who briefly explained to us that Landon has an extra piece of his chromosome 16. She told us that this disorder has not been researched for very long so they don't have very much information on it. She told us that some children with this abnormality have behavioral problems or learning disabilities, but they have also found it in some people who have developed normally. She wanted Ryan and I to get tested to see if we have the same thing. We said maybe in the future, but right now we just really want to get home. She understood and told us that because of his diagnosis Landon qualifies for early intervention and we should get him involved with an OT and a Speech Therapist when we can. We told her that we already had early intervention in place. She was pleased with that, gave me some information and let us go. We were so anxious to leave we really didn't give very much thought to the test results. A couple weeks after we got home we received a letter saying that Landon was scheduled for an appointment with a geneticist in Aug. This totally shocked us because we were told that the geneticist we wanted to see was booked until Feb. 2013. I called right away and asked if it was really necessary because we met with someone when we were there. I was told that they wanted to have a follow up appointment. So 3 months later there we were.

After the young man was finished with his assessment he left and soon after a woman came in. She was not the leading genetic counselor that we were anxious to talk to, but she wanted to know all the questions that we had for Dr. Calhoun. I was much more prepared with questions this time then last time we were there. I had done some research and found everything I could find on what we were told about Landon's 16th chromosome. Some of the things I've found have scared me so I was comforted when she explained that the extra piece on Landon's chromosome really isn't that large. She told me that although the description is the exact same it is not considered to be "Partial Trisomy 16" (which many children have died from) it is just considered a "duplication". She told us that 25 genes duplicated forming what looks like a tail on Landon's 16th chromosome. 25 duplications is considered "clinically significant" which is why they feel the need to keep an eye on Landon. Because of this duplication Landon may be more likely to have a learning disability. Kids with this have also suffered from seizures. She told us that they would really like to test Ryan and I to see if we have the same extra piece.

She then went over with us the possibility of our future children also having this disorder or also being born with a heart defect. This is when I began to get frustrated. We didn't travel 6 hours for Ryan and I to be tested and told subtly that we need to be careful because we may have another abnormal child someday (she did not use those words, but that's a mothers interpretation). I was hoping to get some solutions, but it seemed like the only reason they brought us there was so we could be their guinea pigs and it all just felt pointless to me. I was glad when she finally left so I could touch base with Ryan and see what he thought of this whole thing. He knew how I felt and as always he was ready to calm me down and help me look at the situation from a different perspective. I told him that I did NOT want to be tested. We agreed that whatever the test results showed would not deter us from having more children in the future. He told me that it may be a good thing to be tested though because then we will know that this is something we need to watch for in our future kids and if one of us has it then we wont really have to worry about Landon because chances are it wont be a problem for him either. He told me that maybe their studying Landon will help someone else down the road. "Research has to start somewhere Natalie, and although right now it seems like they are just punching the air and don't have any answers for us, maybe we could play a role in helping them get somewhere. Without someone being the "guinea pig" Landon probably wouldn't be here today." I couldn't argue with that. He told me that this appointment wasn't a waste. If nothing else, it got us out of Bismarck for a couple nights and gave us some time with our family. I agreed, then I asked him to explain the scientific stuff the woman talked about concerning genes, duplications, etc. I was wishing the whole time that I would of paid more attention in Biology, but I knew that Ryan was taking everything in. 

By the time Dr. Calhoun came in my mood was a lot better. I liked her right away. I don't know how many classes in Med school are designed to teach doctors how to make good first impressions, but it is so important. We have met doctors that lighten the darkest atmosphere with their presence and we've met some who seem to find pleasure in stealing your peace, sticking it in their white coat and exiting before you can find the words to form a question. Dr. Calhoun definitely passed the first impressions class with flying colors. She was friendly and began her time with us by talking about how much she loves her job because it allows her to work with cute babies. She went over with us Landon's history, asked some questions, and told us that it is truly astounding how well he is doing. She was amazed at how well he has grown, that he was on 30 cal formula for so long and never had any digestive problems, she said that is unheard of for kiddos on that high of cal. She also couldn't believe that he has never been sick. She told us that we are doing a great job. "He just looks like the happiest baby and he definitely isn't lacking in cuteness." With all those compliments leading the way, she went into the whole speal about how he is susceptible to learning disabilities. She went more in depth about what the results showed and told us that out of all of the cases she has studied Landon is the first one with a heart defect. She said that she doesn't believe they are correlated at all. She talked a little bit about our future children, but I think she could tell that we weren't concerned with that at all. She told us that if we want to get tested that would be great, but insurance doesn't usually cover it and it's a big bill. She pretty much told us that it's not necessary, but if we do get tested and one of us has the extra piece also then she will make the call to bag Landon's case all together. She said since we did fine, then she couldn't see why it would be a problem for Landon. She then went on to explain that if the test showed that we didn't have it, then Landon developed it somehow during utero and our future children may develop it as well. I asked her if it's frustrating for them to find people with it that have been perfectly fine. Doesn't that confuse you? She was very honest with me and told me that this kind of thing is extremely difficult to study because, like heart defects, there are many different variables that play an important role. She told us that they are just beginning to scratch the tip of the iceberg with their research of duplications of chromosome 16. "The test that we gave Landon that was able to show us his extra piece has only been around for 5 years." This is why we are so interested in Landon's development. I was really comfortable with her by now and asked her if she thought someday they would find the cause of heart defects. With a hint of excitement in her voice she told me that she really believes they will. She said she personally knows people who have devoted their entire career to finding it. "I know it wont be in the next five years, but 15-20, yeah I think it is very possible."

She doted over and made faces at Landon, listened to his heart, asked a couple more questions, including if she could stop in to see him next time she's in Bismarck visiting family. Before she left she told us that she would like to have another follow up with Landon in 6 months. We asked her if we could plan it for the same time we're there for Landon's heart and she agreed completely. We said our thank-yous and good-byes and then headed out. Ryan and I had a great conversation on the drive back to my aunts house about how, if nothing else, God used this appointment to kindle the passion we have for raising awareness and funding for research of CHDs. 

Ryan and I did not have genetic testing done, we may in the future, but it will not be to determine if we want to have more children or not.  We don't know why God allows differences or "abnormalities", but we know that God doesn't classify us by "normal" and "abnormal". Every child is fearfully and wonderfully made by Him. We don't know why He chose to make Landon's heart small and give his 16th chromosome a tail, but who are we to say what "normal" is? I have come to dislike that word completely. Do scientists classify snowflakes as normal and abnormal? No, so why do we when it comes to our children. When I was expecting Landon I had a friend ask me if we would ever have another child, without a pause I told her of course we will! She seemed to think that it would be cruel to bring another child into this world that would be different and have to face such hard challenges. I still can't understand her reasoning. I look at Landon and although I still feel sadness occasionally that he has had to experience so much pain, more than anything, I feel so blessed to have him in this world. He blesses everyone he meets and I know that God has already used him in miraculous ways. Woman are choosing to abort their babies because of the worlds obsession with "normal". It brings me to tears when I think of the countless special heart babies whose hearts were never allowed a chance in this world. If God someday gives us another child that this world will call "abnormal" then we will praise God for another perfect miracle. 


Lisa said...

The first thing to come to grip with is that everyone has abnormalities. The difference is whether it is expressed in a way that is visible or not.

I'm glad that Ryan was there to talk with you. My cousin's child was born in 1983 with a diaphragmatic hernia. Because her internal organs were allowed to develop in her chest cavity, her right lung and her heart developed abnormally. In 1983 every child with that condition died within days or weeks. The children's hospital the flew Laura too had just gotten their first ECMO machine and Laura was the first child they used it on. She not only survived her first few weeks, on October 5th she will be 20 years old. She has been through the mill though. She has had so many surgeries that her body looks like a road map. At one point many years ago I was in a meeting with my cousin where she asked what to expect in the future. She fell to her knees when they told her that they didn't know. They were making this up as the go. But because I live in Atlanta with wicked traffic and a long commute, I carpool. My carpool buddy once told me that his first child, Robyn, was born with a diaphragmatic hernia. It was fixed at birth and she has led a normal life. She didn't even know what had happened until she was 8 and asked about her scar. I wept. I had to explain to Andrew about Laura. All of her pain and suffering has not been in vain. Many people have "normal" children because of all that she has been through.

As for genetic testing, don't sweat it. In 2002 when I was diagnosed with a rare genetic cardiac condition there were no genetic tests for it. A few years later Generex got approval for the Familion test. It was considered experimental and insurance wouldn't pay for it. In 2009 7 genes were being tested, but my insurance would only pay for 5. I had the test, but my mutation wasn't in those 5. Since then, 12 genes have been identified and insurance pays to be tested for all of them. The acceptance of genetic testing is quickly being accepted. Keep an eye on it.

I agree with you. If we are all abnormal (and we are since the garden) whose to say what normal is? Functional would be a better measurement. And functional can be enhanced.

Lisa said...

Sorry. The year of Laura's birth was 1992. Getting the child she was born with mixed up. She and my daughter Mollie are the same age.