Rare Disease Day

This year February 29th marked not only my husband's birthday, but the 9th annual Rare Disease Day. Every year on the last day of February people rally together to bring awareness for rare diseases and raise money for research. These diseases are often overlooked and forgotten, most people never have a need to learn about any of them. This is a wonderful opportunity to learn more about often life threatening diseases that people struggle with every day. 

In March, 2013 my little family added Micah as it's newest addition. The days that followed were both the best and worst of my life. Something that made it a little easier was that I have an amazing mom who battles a very similar disease as the one Micah does. Knowledge was an incredible ally to have. The following is our journey with Micah's own rare disease.

March 23, 2013

On March 23, 2013 our first child was born perfectly into this world after 8 hours of labor. He weighed just over 7 pounds and was the most peaceful newborn baby I had ever met. He slept great and hardly ever cried! He nursed great for the 24 hours, and was such a cuddly baby. It was a relief because I had suffered major anxiety during pregnancy worrying about his health. He had tried to come early several times, when I reached 21 weeks I remember celebrating because now he was seen as viable and if he came early the doctors would try to save him. I worried about all sorts of diseases even though the ultrasound technicians always assured me he looked perfect. I finally felt at peace holding him in my arms and watching him breathe. 

The next day Micah started to show the first signs of struggling. He turned a yellow color from jaundice, and he stopped eating. The nurses said he was okay and showed me how to feed him with a spoon. The problem was when we could get him to eat he would throw it up! I would call the nurses in after and they repeatedly assured me that he was spitting up, not throwing up. I fought them on this telling them I had extreme morning sickness all throughout my pregnancy. I KNEW what throwup smelt like. This was green and smelled of bile, I was starting to think I was crazy from the way they treated me. That same day they told me that if he didn't have a bowel movement he would have to stay, yet they stilled denied that he was throwing up. 

The charge nurse came to visit us and speak about our options since he hadn't pooped yet. When she came in I desperately showed her a blanket that Micah had thrown up on. Her face became serious and she quickly left the room to bag the blanket and put a note on it. Our son was throwing up bile, and finally a nurse acknowledged that. Micah was moved to the hospital's special care unit right after that. We were told I was okay to leave, but that I could stay in the hospital on 'Hotel Stay' if I wanted. 

March 26, 2013

On March 26, 2013 we were told that Micah needed to be taken to Primary Children's Hospital for some tests, but that he would come back to the hospital he was in afterwards. I insisted on riding along in the ambulance with Micah as I couldn't imagine my baby being without me during the ride. I was worried, and being able to ride with him was one thing I could control. They agreed and off we went! When we arrived Micah was taken to imaging to get a barium enema. According to the Mayo Clinic a barium enema is "an X-ray exam that can detect changes or abnormalities in the large intestine (colon). The procedure is also called a colon X-ray. An enema is the injection of a liquid into your rectum through a small tube." We were lucky to be working with people during this that were professional, yet had a great sense of humor. They explained everything and even involved us in the procedure, and knew exactly when would be appropriate while explaining the process to make a small joke. They were very relaxed and seemed like they had done this millions of times, it really helped. 

After they had finished they told us that it looked like this was something Micah would grow out of and that in their opinion he could be sent home. We were ecstatic! I rode back to the hospital with my husband to be able to talk to him, we couldn't wait to bring our son home! When we pulled into the hospital we got a call, and my heart sank. It was the paramedic calling to tell us that a head surgeon had looked over the test Micah just had and told them to turn around and bring him back. He could no longer be treated at the hospital we were at, he needed to be in the NICU at the children's hospital. 

I'll never forget my phone call to my dad on our way back. I call and told him Micah was transferred to be in the NICU, that we didn't know what was wrong but that it was something serious. I told him Micah couldn't come home and that I was scared and didn't know what was going on. He said he would be at the hospital as soon as he could, and then we hung up. I was numb when we walked into Primary Children's. We got our badges to enter the NICU and went to the elevators. None of it seemed real, not even when we scrubbed up to our elbows preparing to see our son. It finally became real when a surgeon walked into the scrubbing room. She told us her name was Dr. Meyers and that our son was very sick, but that she think she knew what was wrong. She explained that on the image from the enema half of his colon looked small and restricted, then the top half looked normal. She said she would need to biopsy his colon and then we would know more. I was then handed intake papers, and on the diagnosis line I read the word's "Hirschsprung's Disease". 

I wasn't prepared for what I saw when I walked into the room to see Micah. When I had last seen him less than an hour ago he looked normal. He had only had an IV in and other than throwing up he was acting like any other newborn. The baby I was directed to was in a crib under a light to help his jaundice. He had an IV, an anderson tube going into his mouth, oxygen, heart monitors, a pulse ox, and a covering over his eyes. I went over and stroked my little angel, holding back tears from seeing him so sick. 

The nurse we had that night will forever be my favorite nurse we've ever had. She explained to NICU to us and brought me a reclining chair so I could put my feet up. She told us not to go home and google what Hirschsprung's was as it wouldn't help, it would only worry us needlessly. She told us it's a rare disease, but that they usually have one baby at a time in the NICU with it. At this point I hadn't done much in the way of relaxing and allowing my body to recover from giving birth, and it showed. I had hemorraged during labor, and I was weak and now swollen from being up all day. She told us we couldn't do anything here tonight and that I needed to allow myself to heal for when I could take care of Micah. She told us to go home, so we hesitantly left. 

Going home was harder than I thought it would be. Seeing his bassinet next to the bed was too much for me and I went to lay in the bath and cry. This wasn't the way it was supposed to be, I was supposed to be wheeled out of the hospital with my baby. I was supposed to bring him home in his special coming home outfit and give him his first bath before feeding him and putting him to bed. I wasn't supposed to be home without my baby in my arms, but that's the way it was. 

March 27, 2013

On March 27, 2013 they did a rectal biopsy which ended up confirmed the diagnosis of Hirschsprung's Disease. At this point I couldn't resist and looked up what this disease was on google. According to the Mayo Clinic Hirschsprung's Disease is a disease that affects the large intestine. It is caused by not having nerves in parts of, the intestinal tract making it impossible to move stool through. I would later learn that while it most commonly affects the large intestine it can also go up into the small intestine. Around 70% of cases are a short section where they can do a pull through surgery immediately. 20% have what is considered a long segment and can extend all the way up to the small intestine, 9% have it going slightly into the small intestine and in 1% it can go all the way up to the stomach. In many babies with Hirschsprung's the first sign is not being able to pass stool after birth, and then becoming distended and unable to eat or keep food down. Hirschsprung's appears in around 1 our of 5,000 live births, most commonly in males and often found in people with downs syndrome. Hirschsprung's is not a disease that can be cured, and most often will continue to affect patients for their entire lives. Early treatment includes having an ostomy for long segment, and then later on after healing opting for a pull through surgery to remove any of the affected intestine. 

We were told to expect Micah to have Long Segment Hirschsprung's Disease because of what they saw on his images. In the same conversation we were told that Micah's biopsy had come back confirming Hirschsprung's we were told that his surgery was scheduled for that friday morning and that he would likely be getting a colostomy bag and not the pull through because of him being Long Segment. At this point we went down to eat lunch and process what we had been told. I broke down crying trying to come to terms with our son having this disease and needing a colostomy bag. My mom has 2 ostomy bags and I've seen how much it effects her. I've watched her tie sweaters around the bags hiding them and asking me if she smelled. Of course she never did smell, but she was always sure she did and self concious because of it. I've watched her miss out on important events in mine and my sibling's lives because she was afraid she would have an ostomy leak and because she didn't want people to see her. I grew up watching my mom cry in pain and nearly die several times. It scared me half to death that my son would have to go through any of this. It isn't the life I wanted for him. I had had visions of him running and playing with friends, being a rambunctious little boy. It took me a long time to realize that the situation is what you make it. Having an ostomy doesn't mean you have to hide away and not be a normal little kid. Having an ostomy is just something that is sometimes necessary medically, and you can still do anything anybody else can. It means you're a fighter! 

That was the last time I cried about Micah's diagnosis. I've felt sad sometimes, and scared a lot of times. Yet, it was after that time that I realized I needed to keep it together to be the best mother and advocate for Micah. He needed me to be the strong one, so that's what I became. Something happens when you have a child diagnosed with a serious disease - you realize you can do things you never thought you could. I've put NG tubes in my son, I've held him down while they put tubes in while he screamed and asked me why, I've handed my son over to surgeons and I've held him while he pukes on me. I've tried to do this all in a calm, neutral and confident way. Never crying, my son even as a newborn was watching me to see if things were okay. If I was crying hysterically I wouldn't be able to be there for him and he would be scared seeing me. He already had enough to deal with without me losing it. 

March 29, 2013

March 29, 2013 I handed my tiny son over to surgeons for the first time. We walked down as far as we were allowed and then gave him hugs and kisses. In surgery they would biopsy his intestines slowly up until they found nerves. If it was only a short segment of intestine without nerves they would take out that small section and pull the rest down reconnecting it. If, however, it was a long segment they would create a stoma for a colostomy. A stoma is where they make an incision and bring part of the intestine to the surface. They make an opening in the intestine so that stool can exit through there. After a few hours in the waiting room without receiving a call to inform us they had found nerves we knew it wasn't going to be short segment. Sure enough we got the call, half of Micah's colon was without nerves and he would need a colostomy. 

Micah recovered quickly from the surgery, and now that he wasn't as sickly his personality started to come forward. He cried hard and was no longer a quiet peaceful little baby. He loved music and made it known when he wasn't happy. There were literally times when we were walking down the hall to the NICU and I would hear a baby crying and know it was him. He became a fierce little guy. As much as I hadn't wanted that colostomy it had given me my baby back. He finally had energy to cry!

It took us a while to be able to take him home because he wouldn't eat. He COULD eat, but he wouldn't. Micah ended up being in there for exactly a month. 

After Coming Home

Micah came home with his colostomy, and while it was a struggle to care for a colostomy we learned how to handle it. In August of 2013 Micah was able to receive his pull through surgery, removing half of his colon. He was in the hospital for another month, and we learned during that stay that Micah also had a heart defect called Wolf-Parkinson-White syndrome. This means he had an extra pathway in his heart causing it to be too fast. When it was diagnosed his heart rate was 311. He was put on medicine and we learned how to handle it just like we had his Hirschsprung's. 

Micah has continually gotten infections in his bowels. This is called enterocolitis, and it is very serious. Aboutkidsgi.org says "Enterocolitis is a clinical diagnosis. The symptoms of early enterocolitis may be indistinguishable from a simple viral gastroenteritis: diarrhea, bellyache, a little fever, maybe some vomiting. Because enterocolitis can progress rapidly and even result in death, most pediatric surgeons like to err on the side of caution and treat it with irrigations, antibiotics, and iv fluids even if they’re not sure of the diagnosis."  Enterocolitis is the leading cause of death in Hirschsprung's patients, and is something we worry about every day. 

One day Micah was his normal funny, playful self all morning and I put him down for a nap. I sent my husband to wake him up three hours later as he still hadn't woken up. My husband ran up saying that Micah felt hot and wanted the thermometer. It turns out that in that short amount of time Micah had gone septic with enterocolitis and had a fever of 105. The knowledge that my baby boy can be fine one minute and deathly ill another minute scares me. It is something we've had to live with and haven't gotten any answers from doctors. We continue to try and find ways to prevent this from happening. 

Micah is now almost 3 years old, and he continues to amaze me. Even when he is sick or in the hospital this kid keeps laughing and playing! Nurses have commented that it's amazing how he hardly ever slows down. Hirschsprung's is part of his life, but we fight for it to be a small part. He is smart and funny. He loves to joke around and get others to laugh! He wants to be everywhere at once, and soaks up knowledge. He is now his target weight and continues to grow. Micah is the type of kid who walks into a room full of people and says 'Hello Friends!' He loves cuddling on my lap, and if I leave the room to get something he always runs to me and gives me a hug. 

Having a child with a rare disease has taught me:

How strong the human spirit is, I am amazed at how Micah keeps fighting and never gets discouraged. 

That sometimes I need to stand up to nurses and doctors because I know my child best. It's hard to do, I tend to not like to make waves, but it is necessary. I've had to be a strong willed advocate in getting my son proper treatment that has been the difference between him getting to the point of being deathly ill and treating him before it gets to that point. 

Not everybody understand, and that's okay. Most people are lucky to never have to deal with caring for a sick child. Sometimes even extended family doesn't full understand why we can't attend family funtions, but that's okay. We know we're doing what is best for our son, and everything else is so much lower on the priority list that we don't even notice it. I know there have been hurt feelings and misunderstandings, and that's okay too. I hope people learn more and know that our only intention is to protect our son. 

Even though something difficult is going on that doesn't mean life is bad. We're incredibly lucky that Micah's disease is treatable, and even more lucky that we even have him with us. We have a sick child, but there is so much to be thankful for! His illness, and everything that comes with it, are just a part of life. Feeling bad about it, or fighting it, doesn't help. 

We can handle literally anything. Seriously, the biggest thing that this has taught me is we can accomplish so much! I now try to have the attitude that no matter what happens we'll get through it. I have an awesome husband who makes me laugh and we have a kid who we love to death. Even when things get hard, we can get through it. Currently a worry is my husband finding a job for when he graduates in May. I've come to the conclusion that even if it takes a while to find a job, we'll be okay. We may not be able to spend money on fun things for a while, or move as quickly as we would like.... but it's okay. I try to ask myself "What's the worst than can happen, and so what if it does?" and seriously.... short of somebody dying I've learned it's just something we'll get through.