Friday, November 27, 2015

Love Doesn't Count Chromosomes

5 years ago today our family was changed forever. A 27 day old day baby boy was being discharged from the hospital and we were the family who was chosen to bring him home. When we received the phone call only a few days earlier, notifying us of his needs, we were also given a long list of his medical concerns and issues. Not knowing what many of these issues even meant we still said yes knowing that all he needed was love and a home and we could provide both. With no intention of adopting (although I had a sneaky suspicion he might be the "one") we chose to be his family for a few weeks, a few months or whatever was meant to be. We knew that we could love this little boy and help him as he started his journey of life.

On November 27, 2010 we arrived at the hospital with a borrowed car seat, a worn, handmade, patchwork blanket, a dinosaur sleeper and a beanie. A couple of hours later we left the hospital with a new baby strapped in the borrowed car seat, wrapped in the worn blanket, and wearing the sleeper and beanie. We were scared proud parents for the fourth time and couldn't wait to introduce him to our other 3. The moment we walked in the door of our home with our tiny 5 lb. baby everyone was beaming with excitement. Kate immediately became our "Kate Nightingale" and the boys were so excited to meet their little brother. (Beck kept commenting how cute he was.) My brother Jason, my sister in law Jane, Josie and Chase were also there to greet us as they were the ones holding the fort down until we got home. Then later my parents came to meet our newest addition. There was a lot of love that filled our home that night as we all held, fed, and adored our new baby. It was a privilege to have this little boy in our home and there was a sense of gratification knowing that we were making a difference in this tiny, medically fragile, baby boy's life.

Fast forward to Sept. 2011 when I had to stand in front of a judge and explain the care that we had given this boy so far in the 10 months we had him. I had to keep track of every appointment and mileage for each appointment so it wasn't hard to report what I had recorded in my handy dandy notebook. Including his early intervention appointments, he had been to over 100 appointments in 10 months. Between MRI's,  X-rays, sweat chloride tests, blood draws, cardiology, endocrinology, urology, optometry appointments, and every thing in between, we were busy! Many would say that my hands were full, but I would reply "That's what my hands are for." I was happy to be the one who fought for and stood by our little warrior.

Since the beginning this baby endured a lot. For the first 27 days of his life he fought until he was strong enough to breathe on his own and he overcame addiction. He was also born with many different anomalies and many times his pediatrician and specialists would say he probably has a syndrome that we just don't know about. Now fast forward to March 2012. After meeting with a geneticist it was determined that he should have chromosome testing to figure out what "syndrome" he might have. By now he received most of his nutrition via a feeding tube because he lost interest in eating. So because of this, his slow growth patterns, developmental delays, and all of the other things that this little boy had, a chromosome test was a sure way to find out what was going on. We were excited to finally get answers. On April 27th we finalized the adoption of our little man. Liam became an official member of the Lutkin  family. Which also meant that he was now on our insurance plan. But unfortunately our insurance denied the chromosome test stating that it was not medically necessary.

Although we were disappointed that the testing was denied we were hopeful that one day we would know exactly what to except and have a proper diagnosis. So life continued and so did the appointments and surgeries. Almost 2 1/2 years later in the summer/fall of 2014 we met with the geneticist again hoping that our insurance would approve the testing this time around. And even though a proper diagnosis wasn't going to change the care that he was receiving, we just wanted to be prepared. We wanted to know why our little man had so many struggles and what his future looked like. There had to be a reason and not just coincidence that he has so many anomalies and health issues. There had to be a "syndrome" that linked it all together. Even the geneticist was certain that there was enough to support that it was a medical necessity and was willing to appeal the decision if it was denied. So we waited, but once again it was denied. Feeling confident that our doctor would fight for us we didn't worry and in the early months of 2015, our appeal was granted and soon we would know if our fun size Liam had a chromosome abnormality. It was a simple test but it still took months for us to get the results. I figured it would take time but after a while I was getting antsy. Then I was disappointed to hear that the results had been available for a while but someone forgot to follow up with me. They were quick to squeeze us in knowing they had made a mistake. At last we were finally going to meet with the doctor to get answers. Alleluia!!

On June 16th, 2015 we arrived at the hospital anxious, excited and relieved that we were finally at this point. We approached the counter to check in and I could tell that the receptionist was a bit confused. Minutes later after the receptionist had stepped away, he returned to the counter to let us know there had been a mistake. The doctor who we were meeting was out of the country. They had managed to call and reschedule all of his appointments except ours. Go figure! I was so disappointed, again. Even though it was ONLY 3 years since we had started this process, it felt like we had waited our whole lives to meet with this doctor who finally had the results. I was not OK to reschedule and requested that somebody else tell us the results. I didn't care if the receptionist read us the results. I just knew that we weren't leaving until we had answers. Early on in the process a certain syndrome was mentioned as a possibility. I just needed to know that he did or didn't have that one or if there was something else. Honestly I was hoping for the something else because the "possibility" frightened me. But again it didn't matter as long as I knew what to expect of Liam's future.

After many apologies and more waiting we were finally taken back to a room and met with one of the doctors assistants. She was able to tell us that Liam did indeed have a chromosome abnormality. He has 16p13.11 microdeletion syndrome. In layman's terms, part of Liam's 16th chromosome is missing. It is such a rare deletion that it doesn't even have a proper name. It is named after the location of the missing piece. There are not many studies or information on this deletion but what has been discovered makes perfect sense and explains Liam's stuff. (Feeding difficulties, short stature, small head, tiny facial features, tiny ears and ear canals, his googlie eyes pre-surgery, hypospadias, hypotonia, torticollis, developmental delays, speech and language delays, VSD, behavioral issues, etc.) Pretty much everything that he has dealt with can be linked to this deletion. Not all children or people who have this deletion have all of the anomalies listed, some just have a few. But every single thing listed has been linked to this syndrome and Liam because he is one of a kind, has them all. Seizures is very common with this deletion but for now Liam is clear from any seizure activity. And schizophrenia has also been linked but we will cross that bridge if we need to. (Schizophrenia doesn't usually manifest until the age of early twenties.) Autistic traits or (ASD) Autism Spectrum Disorder are also linked to this deletion and although Liam hasn't been diagnosed having autism, he does have characteristics that are part of the spectrum like anxiety, OCD, sensory and attention issues.

I walked away from that appointment feeling relieved and grateful. But once I got in my car, I cried like a 27 day old baby. My tears should have been happy tears, but they weren't. Don't get me wrong, I was happy because we could finally see the light at the end of the tunnel but I was sad because sometimes that light seemed dim. It was reassuring to know that his issues weren't just random and made up but I was scared because although we knew, there were still many unknowns. For a moment I kind of wished we hadn't discovered his syndrome because then it would mean that others wouldn't know either. I even asked if it was something we should tell our friends and his educators and have it included in his IEP (Individual Education Plan) or keep it under wraps so people wouldn't treat him differently. You see, I almost felt like if we or other people didn't know then maybe he would be just fine. I thought that with time maybe his issues and struggles would just go away. But at the same time I don't want him to fail before he has a chance to succeed. If his teachers, peers and acquaintances are aware of his needs then together we can create a plan so he can achieve success from the get go. I guess the light just seems dim at times because unlike Sara who has Down syndrome, Liam doesn't look different. Well besides him being so teeny tiny you can't tell that he has been diagnosed with a chromosome deletion. With Sara, it is apparent that she has Ds because she looks the part. She has distinct physical characteristics that are part of her chromosome addition. So if she is having a bad day or acts out or is having a hard time learning, people will be more tolerant and accepting (I hope) and assume it's just because she has Ds. But if Liam acts out or is having a hard time focussing and staying on task, or if he doesn't play well with others because he doesn't know how to play with others, then people may look at him as the "weird" kid who just doesn't have any friends. Or the "gross" kid who likes to put tree bark in his mouth because he needs the sensory input. Because Liam doesn't look different, I fear that others may not be as tolerant with him as they are to Sara. So because of this fear I decided that I do want people to know that he has a deletion of the 16th chromosome so that they will love and accept him for his strengths and weaknesses just as we do. I don't want to keep it under wraps because I want people to know that he is a brilliant little boy who just needs more space to grow. So consider this your PSA (Public Service Announcement). Liam has a deletion of the 16th chromosome. This deletion doesn't define who he is but helps us understand the "Why?" to many of our questions.

Liam has endured so much. (In fact this past week he had his 10th surgery.) And even though there are still many unknowns what we do know will help us prepare for those hard times. We know that Liam is a fighter and will face this challenge with the bravery and courage that he has always possessed. We know the he will succeed because he has already proven that he has the strength to carry on. We know that he we will flourish because of who he is. He is a beautiful, sweet, loving, polite and gentle natured boy. We know that these strengths will outshine his weaknesses and the people in his corner will continue to cheer him on. I feel honored and thank God every day that he entrusted me to be his mom, his cheerleader. I had no idea what to expect when we brought Liam home 5 years ago. I had no idea how long he would stay. But I trusted that God had a plan for him and prayed that I was part of that plan. Thank goodness it was meant to be because I can't imagine my life without Liam! He was the "one" who was missing from our family and I am so happy that we found him! I laugh because once we discovered that Liam was missing part of a chromosome we realized that he and Sara really do complete each other because she has an extra. She makes up for what he lacks and together they make a whole! They are best friends and I am so grateful they have each other. One thing I have learned in having two children with chromosome abnormalities is that love doesn't count chromosomes.

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