Frequently Asked Questions

So we are almost 6 weeks out from the start of our first hospital stay and the start of major changes in our lives. Most everyone in our lives knows about what is going on with Levi and we answer a lot of questions, some are easy to answer, some not so much. We don't mind answering questions and talking about Levi's condition to anyone who wants to know, but we thought we would compile a question and answer of some of the top questions we receive.

Q: What is Upshaw-Schulman Syndrome (USS)?
In short, USS is the genetic form of TTP. TTP is Thrombotic Thrombocytopenic Purpura.
In medical lingo: USS is the absence of the ADAMTS13 protease which results in abnormally large von Willebrand factors.
In laymans terms: The von Willebrand factor (VWF) is used in blood clotting. The ADAMTS13 is in charge of cleaving ie cutting up the VWF to send it throughout your body to where it is needed in small units which then degrade after use. The VWF adhears the platelets to wound sites. Without the ADAMTS13 the VWF does not get broken down to the smaller size. Therefore when activated it is activated at full concentration adhearing too many platelets to a wound or sickness causing the body to use up all of the platelets it has. Once your platelets are used it takes multiple days to regenerate on their own. In the mean time the lack of platelets can be very dangerous in the case of a sickness, fall, or cut. Also because the VWF is adhearing at such a large concentration the accumulated platelets can block the blood vessel causing blood clots.

Q: What causes USS?
USS is a genetic mutation. It is a recessive gene which means both Jay and I have a "bad" copy of the chromosome 9q34 which we passed to Levi.

Q: I have never heard of this, is it rare?
Yes USS is very rare. We have been given numbers as low as approximately 150 known cases in the world.

Q: So he got an infusion, is he all better/cured?
No, this is a genetic condition and is life long. The infusions help Levi stay healthy in short bouts but he will never be cured of USS. He will need an infusion approximately every 2-3 weeks for life.

Q: Is there a chance he will out grow this?
No. This is a genetic condition. He can not simply out grow his genes. His body has no way of suddenly producing ADAMTS13 and it never will.

Q: Is there anything I can do to help? 
At this time we are still trying to settle in as a family and figure out all the changes in our lives. So currently there in nothing we immediately need. However we encourage all able people to donate blood or plasma. Levi will forever be pulling from blood banks, and we would love for the supply to always be there for not only him, but all patients who need it. We are currently donating when possible as well.

Q: So what is his day to day life like?
We try to keep Levi's day to day life as similar to prior to December 31, 2015 as possible. We do twice weekly blood work and have extra doctors appointments as well as infusions every 3 weeks approximately. Outside of those things we try to act as normal as possible. As easy as it would be to slip into "you can have anything you want" and spoil him we really try hard not to. He still has to drink his white milk and eat his vegetables. :) We as parents are more cautious and aware of everything going on. We check him regularly for bruising, are more aware of his attitude/any slight changes, track his platelet numbers, his sleep patterns, and are attempting to not miss anything. We try to keep Levi healthy, as sickness such as a common cold or stomach virus, can make an acute episode come on very quickly, but we don't live in a bubble. We play outside, we go to the park and children's places (museum, chuck e cheese, etc), he still goes to daycare. We do carry hand sanitizer with us and use it more frequently then we used to. And we do communicate with family members if someone comes down with anything and they were around Levi recently, which allows us to just be even more on top of watching him. At this point he can't tell us when he isn't feeling well or has a headache so we try to play off of all of his cues.

Q: So what is the prognosis?
Well, that's hard to say. The infusions keep Levi as safe and healthy as possible. The biggest risks come from if his platelets drop too quickly without us realizing, and he has a blood clot. If the blood clot occurs in the wrong place there could be serious complications. The two largest we have been told about are the brain, which could lead to a stroke, and the kidneys, which could lead to complete renal failure. We are staying on top of things as much as we can. The twice weekly blood work allows us to have a good idea of what is going on at all times. If the numbers are dropping we are more aware of it. If Levi gets sick, we would up the frequency of blood work to more closely monitor or he would be admitted to the CHaD for very close monitoring.

Q: Is Levi Ok?
For the most part, yup Levi is ok. He is a happy and bubbly toddler who runs around our house like there isn't a care in the world. He doesn't understand what he is going through yet, he doesn't understand the big picture. I expect there will be times later in life when he gets angry about this, when he says it isn't fair, when he wants to punch something because of what he has to go thru and his friends don't, and when that comes we will be ready to handle it. Right now as long as I have episodes of Paw Patrol and Curious George and maybe a little Mickey Mouse Clubhouse, we make it through. We make things a game right now and talk about the fun things and he is happy with it. He gets fruit loops or lucky charms for breakfast twice a week and gets to pick from the treasure box, so to him that makes those mornings great. In the hospital he gets all the apple juice and chocolate milk he wants and that makes it cool to, oh yea, and they have this super awesome play room which also has two cars and a wagon, so for a 20 month old, that makes everything ok.

Q: He got a port? What is that? Does it stick off him? Can he still do everything? What is the point of it? Will he have it forever? Does it bother him? Does it bother other children?
Yes, Levi had surgery in January to have a implantable venous access device aka port inserted in his chest. It is on the left side of his chest below his collar bone completely below the skin. There is a slight bump so that the doctors and nurses can find the port when they need to access it. When the port is not being accessed there is nothing to see on the  outside besides the small scar about an inch in length from the incision. It hasn't completely healed yet, but that is understandable with his condition. He can still do everything that any other child can do, he can swim and bathe normally. He can even play tackle football when he gets older if he wants too, they will just ask that he wears a full chest protector at all times (practices and games), but otherwise all sports are fine. The port allows very easy access to a major vein, this allows for blood out and infusions in. Levi had a very hard time getting an IV in during his hospital stay, but the port is simple and quick. The area is numbed before the port is accessed and a quick needle in and we are done, he doesn't feel a thing. The port does not bother him on a day to day basis. When it was healing from surgery it itched a little which bugged him, but otherwise he doesn't even notice it is there most of the time. He does call it his button (like talking stuffed animals have a button in them you push to make them talk) and when he "presses" it it goes "tweet tweet". It doesn't bother other children at all. It really isn't there at all for them to notice. As far as having it forever, yes and no. He will probably have a port forever as he will always need easy access, however the current port will probably only last a few years before the line into his vein gets too short as he is growing so rapidly. It will be a quicker and easier surgery just go in and replace the line in the future though.