Appointments, emotional support, sick days… the calendar can become very full, very quickly. And then there are other roles you may play: coworker, spouse, parenting other children.
Your doctor will provide medical advice, but having a good knowledge base helps ensure clear communication as you work with them to get your loved one the care they need. It also helps make sure everyone else on your loved one’s team—family, friends, and teachers—is on the same page when it comes to responding to challenges your loved one may face.
It’s important to know what symptoms to look for, so you can keep your child’s healthcare team informed. New or worsening symptoms can mean PK deficiency isn’t under control. This could mean it’s time to reevaluate the management plan.
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Your child may ask questions about their condition. These questions and answers can be the start of building their knowledge.
Everyone is born with certain traits, such as the color of their eyes or the shape of their nose. Traits come from your parents. For example, your eye color depends on what traits you get from both of your parents. PK deficiency is another trait you can be born with.
For someone to be born with PK deficiency, both of their parents have to have a trait that causes it. Sometimes, kids may only get one trait or no traits from their parents. Kids who are born with PK deficiency received the trait from both of their parents.
Every cell in your body has a job to do. If one type of cell can’t do its job right, it can make you sick. With PK deficiency, red blood cells go away too quickly. That means you don’t have as many red blood cells as you need.
Red blood cells are tiny cells that move through your blood. They deliver oxygen to every part of your body. Our body needs oxygen to work properly. We get oxygen by breathing air into our lungs. Red blood cells take the oxygen from our lungs and carry it to all the parts of our body, such as our brains, our hearts, and even our fingers.
All the parts of your body need oxygen to do their jobs. Because you have PK deficiency, you don’t have enough RBCs. Without enough RBCs to carry oxygen, your body doesn’t get enough energy. This makes you tired.
When red blood cells go away too quickly, they can leave substances behind in your blood. One of these substances is called bilirubin (bil-ih-roo-bin). Too much bilirubin can turn your skin and eyes yellow.
A blood transfusion is a way to give you more red blood cells. Red blood cells can be added (transfused) into your blood. There, they help take the place of ones that went away too soon. They work with the red blood cells you have and help them do their job.
Not everyone with PK deficiency needs transfusions. Your doctor will recommend what’s right for you.
When red blood cells go away too soon, they can also leave behind iron (also called ferritin) in your bloodstream. Too much iron can make you sick or hurt your heart or liver. So, your doctor gives you medicine that chelates (key-lates) the iron. That means it binds to the iron, so that you can get rid of it when you go to the bathroom. Transfusions can cause iron to build up too.
Your doctor needs to check on your health, and the health of your blood, to help prevent problems. When your blood cells break down too fast, they can make you sick in other ways. Your doctor wants to see you often to help you stay as healthy as you can be.
As your child gets older, encourage them to interact directly with their healthcare team. It’s important that they feel comfortable asking questions, or for more explanation. Care for their PK deficiency will be a constant, so making sure they can speak up for themselves when they’re younger may make managing the responsibility easier in adulthood.