A little about our family. Our family is myself, Michelle, my husband, Jay, and our son Levi. Levi is currently 19 months old and a crazy active toddler. He loves to play with trucks, cars, tractors, go-go sets, little people, baby dolls, kitchens, ride on his truck, and so much more. He loves Winnie the pooh, Curious George, Paw Patrol, Thomas the Train, Elmo, and Mickey Mouse, just to name a few. We also have two cats, Cindy and Jazzy. We live, work, and play in New Hampshire.
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| This Year's Holiday Photo |
On December 31, 2015 we received the diagnosis that Levi had Upshaw-Schulman Syndrome (USS). But our journey begins long before then.
When Levi was an infant we would often notice that he had bruises on his body in odd places. And that he would get a bruise between his eyes that would get brighter and darker at different times and then would almost seem to go away. Like any concerned first time parents, we brought this concern up to his PCP who said that it was just a blood vessel and not to worry about it. We put is off and moved on with our lives. Levi got bigger and started moving around more. At his 12 month well kids visit (May 2015) I brought up his bruising again. At this point he was skooting along everywhere and would often get bruises on his back, legs, and arms, but they seemed to come out of no where, and were slightly alarming. Our PCP again said that it was normal child hood bruising and not to really worry about it, but if we really wanted to she would give us labwork for a CBC (Complete Blood Count). However she said it wasn't high priority and to just do the labs the next time we were doing labwork for his thyroid (Levi has congenital hypo-thyroidism). To make a long story a little shorter, the labwork came back with a platelet count of 46. For a child his age the platelets should be around 195. We got an immediate referral to the Childrens Hospital at Dartmouth Hitchcock (CHaD) to see a pediatric hematologist. We made the two hour drive to see him just 5 days after the original blood draw. While there they repeated the blood draw and his platelet count was normal. At this point it was considered to be a lab error, and we went home feeling all was well.
Fast forward to Thanksgiving week 2015. Levi got a stomach virus (oh fun) and was out of daycare for several days. By Thanksgiving day he was feeling much better and we traveled around to see family. By Friday afternoon Levi was covered in bruises. We joked that he was our spotted son. We tried to keep him from getting into too much mischief, but the bruises just kept coming. We were keeping a careful eye on him and yet it didn't seem to matter, new ones just kept popping up. On Monday I rushed him to a lab for blood work. His platelet count came back at 67. Once again we were referred to the CHaD. After talking to our hematologist we were referred to a nephrologist with a possible diagnosis of Atypical Hemolytic Uremic Syndrome (aHUS). We began to run tests to get a definitive aHUS diagnosis and went home. Over the next few weeks the labs were coming back and non of them were pointing to aHUS. The week before Christmas the nephrologist gave us the choice of running another set of blood work or waiting for the last aHUS test to come back. We decided to move on to the possible next diagnosis and did blood work for a B12 absorption deficiency and for ADAMTS13 issues.
On New Years Eve 2015, our nephrologist called and Levi's ADAMTS13 activity was <5%. A normal range is >60%. We had our diagnosis. Levi has Upshaw-Schulman Syndrome. We were told that we were being transferred back to the hemotologist for primary care and that this was an urgent condition but that we were not in critical need, and we could enjoy the holiday and we'd see doctors the next week.
I went to bed that night knowing that 2016 is going to be a learning year and a lot of things may change. Little did I know just how quickly it would all change.
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