Hello Everyone! I first want to thank you for checking out our fundraising page! As you are likely aware, we are walking in honor of Daphne.
When Daphne was an infant, she developed odd bruises. I would bring these up at our doctor visits but was told it was normal. Just before her 1-year appointment I was picking up Daphne out of her crib and left a handprint. This time, I took a picture of it to show the doctor right away. At this next appointment she decided to run some tests. After a failed blood draw (her blood clotted before they could run the tests) and another successful blood draw, she was given the general diagnosis of Von Willebrand Disease.
A few tests and about a year later she was officially diagnosed as type 2B severe and it was determined that she has thrombocytopenia (low platelet counts) as well. A lot of people with VWD have a type that causes their body to not product enough VWD protein- which is necessary for your blood to clot, but Daphne's body doesn't produce enough and the protein she does produce doesn't work properly. We typically say that her VWD protein is extra sticky. Her body acts as if she is always bleeding so that when she is actually bleeding there isn't enough VWD protein (factor), factor 8 and platelets to do their jobs. This causes extended bleeding. She does not bleed more, but she bleeds for longer periods of time.
When injury happens sometimes it looks like a big purple bruise and sometimes it's visual bleeding, but other times it's bleeding we do not see. What makes Daphne somewhat unusual is that she tends to have muscle bleeding. We typically don't see this bleeding by looking at her, but boy can she feel it. When she had her flu shot this year, she had a two-day muscle bleed that required ice, an infusion and relaxation! She says it feels bubbly and painful inside.
When Daphne receives medication, it's not just a pill. She receives intravenous medications. At this point we do prophylactic treatment twice a week to prevent spontaneous bleeding (as well as to get her to a more normal level in case of injury). And we treat on demand as needed (injuries, bloody noses, vaccines, surgery, etc.). She currently has a port-a-cath to help us with the infusions. When she first started treatment, she was tiny, and her veins were difficult to get (they had to call pediatric nurses and NICU nurses to get her veins) so we opted for the port. Her port provides us a freedom that we didn't have before. There are plenty of downsides to the port, but the good heavily outweigh the bad. We are currently in the process of learning how to use her veins to infuse - she's even learning to infuse herself! We hope that within the next 2 years to be ready to remove the port completely!
On top of her having VWD she also has thrombocytopenia. Low platelets are typical for someone with type 2B VWD, especially if they are considered severe. A typical person has approximately 150,000- 400,000 platelets at any given time. It fluctuates a lot, but typically people stay in that normal range, though it isn't unusual for a typical person to drop to the lower 100s during active bleeding, but their body will make more platelets to replenish. Most type 2B patients have levels between 75,000-100,000. This level typically doesn't require any treatment but is watched closely. Daphne has a baseline of about 50,000 which puts her in the more severe range. Before surgery she gets platelet infusions. She has dipped well below the 50K mark on several occasions, but only during active bleeding and it does eventually go back up. We don't treat prophylactically for low platelets because there have been cases where people's bodies reject the infused platelets when given too many times. We only treat in emergency situations.
Phew, that's a lot, but I hope that helps people to understand Daphne a little bit and to help understand why this cause is near and dear to us. We walk every year for hope. Hope that we will eventually see a cure. Hope that we will have better treatment options available to us. Hope that Daphne will grow up feeling confident and secure, even though she has something different about her. Hope that everyone with a bleeding disorder has access to care, education and advocacy. This is a hard road we walk every day, knowing that there is an organization out there to support us makes it a little easier. ❤️ Thank you so much!