I feel like this blog post is a little preemptive, but I want to get everything out while it's still fresh in my head. I guess I'm going to start at the beginning.
Christmas break 2013 started just like any other Christmas break. The kids were excited for Santa's impending arrival, I was scrambling to get everything together in time for the big night. Dixon, Max, Sophie and I were all fighting head colds. Kyin had a bit of a cough, nothing big. Thursday, the day after Christmas he seemed to get worse...a little more lethargic. By Friday Kyin had a fever. Saturday his tonsils looked a little swollen and his fever and malaise just seemed to get worse. On Sunday I swore I seen white spots on his tonsils, so my Mom came over to sit with the littles and I took him to the medi-center. Strep test came up negative, so the Doctor said to give him mucenix and wait it out. When we got home, he slept virtually all day. I mentally told myself if he didn't perk up the next morning, I would take him into the ER.
Morning came, and he was as weak as ever. Fever was around 103. I called my Mom to let her know what was going on, and she wanted to go with us. I picked her up on my way to drop the littles at my sister's house. I had planned on being in the ER for a few hours, get a flu diagnosis then going to work. Thankfully the ER wasn't busy at 8 am, and we got right in. The doctor came in and asked if he had gotten a flu shot. When I told her that he hadn't, she said it was hitting hard and they were going to swab him. They also ordered a chest X-Ray because of his coughing. While we were waiting for the results of the influenza test, the Doctor came in and asked about his history of low platelets at birth. I confirmed that he did in fact have that, and was treated on day 7 after birth with a platelet infusion. They ordered a urinalysis to make sure he wasn't dehydrated. Flu test came back negative, chest X-Ray was fine, but his UA came back that he was in fact dehydrated and an increase in broken red blood cells. Because of the broken RBCs, a CBC was ordered and an IV to dehydrate. Luckily the placed his IV on the inside of his elbow and they were able to draw blood off that. CBC came back with confirmation of the broken RBCs, an increase in something called LDH, and extremely low platelets at 13,000 (normal is around.d 130,000). She had asked if he had experienced any bleeding recently, and I confirmed that he did have a mucusy nose bleed when we first arrived in the exam room. The doctor then examined him for petechiae. She did find a few, maybe 4-5 pin point spots on his legs. At this point my mom had left with my van to take my Grandma to the store. Just as I suspected, the Doctor had consulted with the hematologists at Helen Devos Children's Hospital, and because of the low platelets, the bleeding and petechiae they felt he should be transferred over there. They thought he had Idiopathic Thrombocytopenic Purpura, or ITP. My mom rushed back in time to ride in the ambulance with Ky so i could go change and pack a bag.
I arrived at Devos about a half our after the ambulance. His room was pretty amazing, by hospital standards. After a brief medical history with his nurse the PA came in and explained they would be running more labs, Ky would have to urinate in a urinal so they could keep track of his output, and briefly discussed IVIG therapy. She then told us that the hematologists would be in later. Quite a few hours, and many phone calls to update family members later, the hematologists came in. They got another history, and really focused on his low platelet count and excessive jaundice at birth. They said they couldn't definitively diagnose him with ITP because it's an exclusionary diagnosis. Meaning, they have to rule out everything else first. They wanted to order a bone marrow biopsy to see if he was even producing platelets. They also explained that, while it looks like ITP, there are a few other things that don't add up to that diagnosis. Two of those being the broken RBCs and the increase in LDH. They gave me the option of going ahead and treating him with the IVIG (intravenous immunoglobulin therapy) just in case that's what he has. I was told besides a possible allergic reaction, it wouldn't hurt him to treat for it if he doesn't have it. It would only possibly shorten our stay if that was in fact his diagnosis. They always give benadryl and steroids during this type of therapy to help ward off potential allergic reactions and headaches.
I left around 8 to go get my littles. My mom stayed with Ky through the night. His IVIG took 6 hours to administer. And he slept through it all. It was finished around 3:30 am. I had to work that next day in the morning (New Years Eve), so my mom was with him for the biopsy. Well, the before and after. They medicated him and put him to sleep for the procedure. He didn't even know it happened until much later that night. While at work Jerrad and I tried on getting an Emergency Red Cross message through to his command so he could come home on emergency leave. Unfortunately without a definitive diagnosis the Red Cross couldn't send one. And Jerrad's CPO wouldn't come in to authorize emergency leave without the Red Cross Message. When I got out of work I pick up some lunch for mom and me and raced up there. My mom had gotten the preliminary results back before I got up there. The marrow looked great and there wasn't any signs of leukemia! Great! I was also informed that his platelets had climbed to 17,000 that morning after his IVIG therapy-it seemed to be working! I was greeted to room 603 by an extremely grumpy Kyin. I've never, ever seen him that disagreeable. I was warned that this is a common side effect of the steroids. After checking in to the room, I realised that I had forgotten to grab some silverware, so I ran down to the food court. While down there I ran into one of Ky's hematologists. He informed me that if his labs stayed at 17,000 he was comfortable with sending him home that afternoon! Luckily, his platelet level did stay at 17,000 and we were back in Muskegon by 4:30.
We were discharged with the instructions that he was to take 2 mg of an oral steroid twice a day until Thursday (it was Tuesday), he had to get labs drawn on Friday, then weekly on Mondays until re-evaluated at his next appointment on the 27th. I was also told to call if I notice anymore bleeding or if it looks like there is an increase in blood in his urine again. Wednesday and Thursday go by great. Kyin was still tired and grumpy, but he was taking his steroids and there wasn't any bleeding! Friday comes around and I had planned on just taking him into work with me, bringing him down to the lab in my building and dropping him off to my sister on my lunch break. We didn't have patients, so him being in the office for a few hours really wasn't a big deal. He was feeling really weak again, and had a runny nose that morning so I held the tissue and had him blow it. Sure enough there was blood in it again. I called my sister and mom and let them know what was going on and that we would probably end up back at Devos that morning. I called Jerrad to update him on what was going on, and promised to call when I knew more. When I got to my office I called the hematology clinic and told the receptionist what was going on, and she transferred me to the nurse line and I left a message. The nurse got back with me fairly quickly and told me to just take him tot he lab and when they get the results they'd call and let me know what to do. We had just gotten off the elevator when I got another call to disregard the first call and to just come in.
At Devos we were shown to the Infusion area of the hematology floor. Assuming we were going to just get another round of IVIG, I settled in for a long day. We were moved from the open infusion area to an exam room where they took some blood and ordered a UA. The labs came back that his platelets were up to 57,000 (woo hoo!), but he was a little dehydrated again and again the increased LDH, broken RBCs, and low hemoglobin were brought up. An IV was placed to re-hydrate him, and a kidney ultrasound was ordered to make sure there wasn't any swelling or clots causing the broken RBCs. His kidney ultrasound came back clear. They prescribed Ky a low dose of Prednisone to take until his next appointment. The doctor on that day told me that what he has isn't behaving like ITP. If he had no more instances of bleeding or low platelets then they were going to call it good. But because he was having more bleeding and issues they were leaning towards a rare blood disorder. I was informed that because these diagnoses are so rare the testing takes around 2 weeks or so to come in. Right now they're testing for Congenital Thrombotic Thrombocytopenic Purpura. It is extremely rare. I've read that there's only 150 people worldwide who have been diagnosed with this. Now, if this is what he has that means both Jer and I are carriers of this recessive gene. That means each kid has a 25% chance of having this (if that is what it is). So all of the kids have to be tested when Kyin gets his diagnosis. They really suggested that Max get tested ASAP after we get the diagnosis, because of him also having the low platelets/increased jaundice at birth.
After reading what I could find on Congenital TTP, or Upshaw-Schulman Syndrome is seems to fit. I will be very surprised if this isn't what he has, honestly. The first flare up right after birth, the decreased hemoglobin, increase of broken RBCs, the increased LDH...he has it all. It's treated by plasma infusions that can last for a week or two depending on how long it takes for him to go into remission from a flair up. Flair ups consist of extreme fatigue, bleeding (like his nose bleed), and petechaie/bruising. They can occur as often and once a month, or some can go years in between a flair up. It is something that if not treated is deadly. Before 1980 the mortality rate was 100% because there was no treatment. Thankfully, now there is a treatment.
The past week has been a whirlwind. It's literally changed everything. I'm not counting on anything until we get the official diagnosis, but I can't help but think-what does this mean for his and our, as a family's future? He's SO smart, I can only hope that it doesn't affect his schooling too much. Jerrad (hopefully) only has a couple months left in the Navy, but until then, will I be able to keep my job? Who knows how much more time I'm going to have to take off. I can only thank God that the ER doctor at Mercy didn't just write him off as a sick kid with a random virus. That she looked further, and ran more tests. I can see how some parents could just write it off as the flu for a while. He goes back in to see Dr. Kurt, one of the hematologists he seen while inpatient, on Thursday. He seems more like himself now. He's more active, he finished both of his Lego sets he got for Christmas, he's playing with Dixon, he's eating, and taking his steroids without complaining. Until Thursday..
