Parents
When expecting a child it’s difficult to think that the child might not be healthy. Some people might think about possible genetic disorders or other problems that might occur, but not many ‘parents to be’ will know that they are carrier of an illness called Pyruvate Kinase Deficiency (PKD).
When a child with PKD is born a lot of things will be different than having a healthy child. The skin and eye color might be different. The child might not react well and feel very weak. This creates a lot of fear with the parents and because this is a very rare disease, not a lot of doctors will be able to give reassuring counselling.
To see what new parents go through in the first couple of month of a child’s life we would like to invite you to watch this video about little Minnie.
After the joy of being pregnant and delivering your little baby, suddenly things change. The hopes and dreams you had for your child are uncertain. Young parents are going through a phase of mourning because of the loss of the dream to have a healthy child is very real. But because they soon find themselves in a roller-coaster of decisions that have to be made, there is not a lot of time to feel anything at first.
A parent of a child with Pyruvate Kinase Deficiency needs to see what their child needs. Is he too pale, is she too tired? Should I call a doctor when my child has the flu? Things they can’t ask other parents because a child with PKD is so very different in many ways. This creates a risk that young parents feel isolated and it’s very important they find people to share their doubts with.
After a few years, new questions might come up. Should we have a spleen removal done for our child, or is a bone marrow transplant a better idea? Do we know enough to make the right decision? During this critical period it’s important to have people around you who will give you the information you’ll need to make the best decisions possible. But remember, everybody is different. And every child with Pyruvate Kinase Deficiency has other needs, so keep looking at your child and your own feelings.
Parents need to familiarize themselves with a very unknown disease, and the normal thing is to try to find as much information as possible. With PKD, this isn’t an easy thing to do. A lot of doctors are not well informed about this disorder, so parents often will start looking for the information themselves.
For parents, this means that the first couple of years are accompanied with a lot of questions and uncertainties.
In the past a lot of parents were kept in the dark for a long time. Genetic testing was rare and a lot of parents didn’t know what was going on with their child, sometimes even when the doctors did know.
“We didn’t know what was wrong with our daughter for two years. The first year doctors also didn’t know, but then they thought we wouldn’t understand it anyway, so they didn’t think it was necessary to give us any information. I thought she was going to die for two years. That’s still traumatic to me, although it was 42 years ago” Mother, the Netherlands
In a lot of countries, this hasn’t changed and parents are still quite on their own. If you are, and you have questions or need someone to talk to please use the form below to contact us.
Having a second child
When your first child has Pyruvate Kinase Deficiency in some countries you are allowed to test before or during pregnancy if this child also is affected by it. However when the test is offered, it is very difficult to forsee what you will do when the outcome comes back. The doctors might offer you an abortion, but could you do it ? People feel that because a choise is given it makes it very difficult to keep the child because then you choose a sick child and how will the world look at you then. Getting a sick child by choise is very different then getting a sick child without knowing before according to some people. But what do you feel, what do you want that is the only thing that really matters.
Advice:
- Try to find as much information as you can about PKD, but also about your rights and the rights of your Child. (For European readers: http://www.each-for-sick-children.org/ )
- Ask your doctor if there is another family with the same problems, via internet it’s easy these days to get in contact. Also, check the online patient support groups.
- Remember to look at all the sights of your child, he/she is also funny, charming, a good learner or a lovely kid. It’s not only a sick child.
- A lot of hospitals have specialized counsellors and chaplains who are willing to listen to your story.
- Talk to your family and friends and find support, but remember you are more then a parent of a sick child. Don’t let the PKD control your life too much.
- Get some distance once in a while. Go out with friends and talk about different things. Go on a holiday and just have fun.
Child
From the moment a child with Pyruvate Kinase Deficiency is born, things will happen to him or her that are not pleasant. People will stick needles in their little body and a lot of testing and controlling must be done. Some children are very relaxed about that and can see that it’s all meant well. But for a lot of little children, the hospital is a very frightening place.
It’s important to realize that every memory is kept in our head and will leave a marker. Like Dr. Federn (a student of Freud) already discovered: “We store every memory, good and bad, somewhere in our brain. And this memory can be recovered any moment in life when our brain is triggered by something like a smell or a sound.” So if we know that, we can see what having an illness will do to a child.
“I used to have a medicine in the hospital that tasted like bananas. If I smell bananas now I’m right back at the hospital” Woman, 40 years
Of course it’s impossible to not let the child go to the hospital and have a perfect youth, but it is good to realize that a child needs to have a place where it feels safe. And hospital stays should contain a nice thing to remember as well.
“As a kid, I really liked the blood transfusions, because in the hospital room I could watch Disney movies on the TV. At that time, we didn’t have a TV in our home.”
Woman, 28 years
A child with PKD often has a slightly different skin and eye color. For some children this becomes a problem as other people will react to that. Some children are bullied or feel unsure about their appearance and will shut themselves down. It’s very important to notice if a child is having troubles and when he/she does, it’s also very important to take that serious. It could be that this skin colour will be the hardest thing to deal with.
Advice:
- Make a tradition out of going to the hospital, for instant make a garland of beads. For every transfusion give one bead of a color and for an unpleasant test another color.
- Talk to your child. Don’t make him feel like he must be tough or weak, just let him tell how he feels and take that feeling serious.
- If you feel that your child is struggling, don’t hesitate to ask for help. Some hospitals will have specialized counsellors for children who will give play therapy. For many children, putting up a brave face to protect their parents is a common problem. It’s much easier for a child to tell someone not so close to them about the problems they are facing.
Puberty
A lot is changing. In this time and for a lot of children this is a difficult time. For a child with Pyruvat Kinase Deficiency, appearance becomes more important and fitting in could be an issue. Some children are doing fine. Their social environment will be save and their bodies don’t seem to give them too much trouble.
For others, the period of puberty is the worst. Children are harsh and they will pick on the kids who are more vulnerable and it’s not unlikely that a child with PKD is just that, for having endured so much already.
For some children with Pyruvate Kinase Deficiency, complications have set in and there could have an effect on their growth hormone which will cause problems with hormones. This will have a direct effect on the well-being of the child.
Advice:
- Take your child serious; keep in contact to see what is going on.
- Let him/her find his one way. Try to let go, although that’s the hardest thing to do for a parent who has just learned how to take care of this special child.
- Realize that it’s still hard for a older child to really give in to their emotions with their parents. A lot of kids realize that their parents have a hard time as well, because so they don’t want to bother them. Encourage the child to talk to a therapist or counsellor and let him be free to make his own choices.
- Be careful that you don’t talk about your problems with the child as well. Find a grown up to tell your story and be aware that your problem is not his or hers.
- Although you should not burden your child with your problems, be honest once in a while. Remember everybody matters and children know how their parents feel most of the time. Say how you feel, but also say it’s not the child’s fault, it’s the situation.
Adult life
For a lot of people, being young gives them the idea that they can do anything. Even when things are harsh, it keeps people with Pyruvate Kinase Deficiency going and reaching for high goals. Everything changes when they are reaching adulthood. Keeping a job is vital and a social life is crucial. The first couple of years, life will go on and it feels like our bodies can cope, but then there will be little cracks. A lot of people have to learn to recognize the signals that the body is giving. We all have our own limits; you don’t need to have PKD to know that. But for people with PKD, it is especially hard to read the signs because the most people with PKD have a quality that gives them the strength to go on, despite being tired. When those people become adults, this quality can turn against them and for that reason it is important not to read the signs too late.
Adult life is also a time of choices. What sort of work will I do, should I have a family and will my dreams come true? For a lot of people with PKD, this means they have to make difficult decisions and sometimes it means they made the wrong decision, and they have to reconsider their ideas to find their balance in ordinary life.
Advice:
- Be honest to yourself and say ‘no’ once in a while
- If you’re scared of social stigma then don’t say your illness can’t make you do things, just say your agenda is stuffed.
- Really plan your moments of rest in your agenda and stick to that. This is your moment, try to see it as an investment in your body.
- Realize that a lot of people have issues some way that keeps them from being always active. Don’t punish yourself if things don’t work out.
- Make a plan of the day, and give points to every activity. A heavy one gets 3 points, a mild one gets one point and a real relax moment is minus 1. See how many points work for you and try to build up on that.
Siblings
Because Pyruvate Kinase Deficiency can be a very unpredictable condition, it can create a lot of distress within the family, causing difficult situations with siblings. They need to share the attention with a brother or sister who needs extra care. For some sibling this can be very disturbing and hard to understand. It’s important to inform the entire family and create an open communication, everybody’s feelings must matter. Brothers and sisters who are feeling left behind because all the attention goes to the sick person in the house, need to be heard as well.
“I have always known that my brother suffered with me. He had to share the attention. He saw party’s and holidays fail because of my disease. I felt guilty, but couldn’t do anything about it.” Woman, 40 years
Within the transactional analysis psychology it’s said that everybody has his own role within the family and that what is told to you when you are a kid, is something you will take with you all your live (Cel. G. Cosijn, Zet je O.K bril OP). So when a brother of a pkd child gets the message that he is second range, that will have an effect on him for the rest of his live. And when the child with PKD gets the message time and again that he’s fragile, or needs to be strong, he will have this feeling too.
Advice:
- Take some special time with the sibling without PKD. And be sure that on this moment you only see this boy or girl.
- Be open towards everybody, some things are out of your control, but information is the best way to keep everybody involved.
- Everybody is allowed to feel whatever they feel, so when the sibling feels left behind, angry or indifferent, it’s okay. Be aware and try to find answers together.
Partners
Finding the love of your live is difficult for everyone, but when you have a chronic illnes it is even harder. Maybe you feel unsure about yourself, and the way you look. Or maybe you think that you have nothing to offer. It’s a process a lot of us go through. But if you find “THE ONE” you will see that love overcomes all your doubts.
“I always felt Ugly because people stared at me on the street and girls weren’t interested in me at all. I felt so rejected and finding a partner was really difficult. In the end I fel in love with a sweet woman, but unfortunatly that didn’t last, since we were both so damaged in our past. It took a long time and allot of therapy to overcome my trauma, but now I finally feel convident and I found my True Love” Man 50 years
In many cases the relationships are very equal for a long time. Both can have a job and you might make the choise to have a family. But somewhere along the line the Pyruvate Kinase Deficiency wil bring up hurdles in some way. Maybe you’re health deteriorates or maybe your energylevels are lowering. In that case a lot of husbands or wifes need to step in and do more than other spouces around them. That will take a lot off them, it is very important to take that serious.
“In the beginning of my marriage I felt that my husband and I where completely equal. I had a good job and we had a very active social life. In the run of time this changed and when we had children my energylevels changed dramaticly. We were in survival mode and weren’t able to see eachother anymore. In the end we divorced, not being able to overcome the differences. It might have happened anyway, but I do feel the PKD had a big effect on our lives” Woman, 41 years
Advice:
- If you are single and you are looking for a partner, don’t be afraid your colour or your illness will be a factor. Maybe it has been in the past but the rules off love are very different.
- Keeps the conversation going. Be open about how you feel and don’t feel bad if your partner tells you he or she is tired to. It’s all true.
- Make a list of things you can’t do and check of your partner is able to help you out. Let your partner also make a list of things he or she can’t or won’t do, maybe you can do that.
- Allot of people feel guilty. Ask your partner if you should. Often people feel very different then you think.
- If you feel worthless compared to your partner, write down what you actually do every day. It might surprise you!
- Find people to support your family if it’s not working out.
- Have fun, laugh, dance do something silly, if you feel life is difficult laugh even harder. It connects you with your partner in a way that is jolly and positive.
- Go on a date regularly and find the time to really Talk to eachother (and don’t forget to really listen).
- It doesn’t have to be perfect. Nobody is, so don’t demand to much from each other and yourself.
- If you feel you lose eachother, find a counselor and try to work it out. Often there is a way out of it.
Fear
A lot of people with Pyruvate Kinase Deficiency will have some sort of fears that has developed over years.
Sometimes the patient is scared of needles or the transfusion itself. This can be caused by having the needle been put in the wrong way as a child, which leads to a combined fear of that pain linked to the needle. Like mentioned before, an incident like this can become a bad memory that can be triggered by something very small and recreate the fear.
Another fear is due to losing the control within the hospital. Time and again people with Pyruvate Kinase Deficiency need to give the control of their health out of their hands. Especially with little children it’s hard to explain what is happening and why. In the past, not a lot of doctors and nurses were trained to give the patients a secure feeling in the process that they had to go through. This has created a lot of post-traumatic stress with people, because they kept feeling that everything could change within minutes. Having control issues is a major problem for a lot of people with PKD.
Fear of social stigma is another problem that is common. Because a lot of people with PKD have a yellow skin an yellow eyes, they tend to stick out in groups. The feeling of being different is often triggered when people stare. It’s important for everyone to have a feeling that you fit in. Being as normal as possible is a goal that a lot of people pursue. But in every culture this goal is different and there also is a big difference between men and women. So the question is always when are you normal enough? And is being normal good for me ?
“I tried to fit in for a long time. Told everyone that my colour didn’t mean anything and that I could do everything. But after years and years of fighting my own body, it just quit. I crossed way too many limits and my body was exhausted an my mind was exhausted too for trying to be someone I couldn’t be.” Woman, 40 years
A lot of patients feel that they are unable to talk about the pyruvate kinase deficience to anyone. They fear social stigma and feel that being different could have a serious effect on their work and social life. In a lot of cultures this isn’t even a unreasonable fear and having an illness is a weakness that will not be tolerated. When the world around you is too tough, it is hard to talk about it and people can feel very alone. It’s very important to find people with the same problems, to know you’re not alone.
Advice:
For children with Pyruvate Kinase Deficiency:
- Give the child as much control as possible.
- Let the child decide, if possible, in which arm the transfusion will come.
- Make him/her count to three or ten before the injection will be given.
- Bring along their own pillow or stuffed toys.
- Give the child as much information as possible and try to explain it in a childlike manor.
- Take the child serious.
- Try to Not give the child a feeling that being brave is an accomplishment. Think about why you want your child to be brave: Is it easier for you ? A child goes through allot and It is allowed to feel terrible, sad and angry. It’s our task as a parent to make the child understand the feelings and not to make them deny them.
- When you come back home, get a doctors playset. Now your child is in total control and you are the patient.
For adults with Pyruvate Kinase Deficiency:
- Take your control back. You have rights, find out what those are.
- Get informed. If you feel that you don’t have enough information, ask your doctor for more.
- If you feel that no one will be interested in your illness, ask yourself if that is true. Test it out with your dearest friend or family member, maybe they will surprise you.
Skin colour
Everybody wants to be normal, that’s human nature. We want to fit in and not be too outstanding. But for Pyruvate Kinase Deficiency patients that’s not an easy thing to do. Our skin and eye colour will often stand out. For some people this hasn’t been a problem at all. They are in a social environment where this doesn’t matter too much. But for a lot of patients, the skin and eye colour is the most obstructive thing about PKD.
“People stare at me when I walk down the street as long as I can remember. It feels strange to be different and it’s not something I’m getting used to. When I was a kid I was bullied a lot because of my colour. I remember being hit, spat and scolded. It was hard because I couldn’t change my colour and I had no control over what happened. I also never saw it coming.” Woman, 40 years
When the skin colour is a major problem, it also has an effect on the psyche of the person. If someone tells you that you look different, you will feel different. And when someone tells you, you feel bad, than it’s logical that you’ll feel bad. It’s a constant battle with the opinions of other people and your own.
“I was on a bus when the conductor told me I was yellow, as if I didn’t know. I told him why I was yellow and it was okay because I was having treatment. He didn’t believe me and threatened to stop the bus and get help. While everyone listened and stared I persuaded him not to do that. Eventually we moved on.” Man, 50 years
Advice:
- Try to be as forthcoming as you can be, don’t hide and know that you are not your colour.
- Find help. If no one listens, keep looking. You are not alone!
- Remember your strength. Being Yellow is not a weak sight of you, it’s just your skin. Find your inner strength.
- It’s okay to feel bad once in a while, let that feeling in. Make an appointment with yourself to have a “feel-bad-day”, and after that; pick yourself up again and feel strong.
- If you are a woman, maybe you feel more comfortable when you use make up. Get some advise about what colour will be great for you.
- Don’t blame people for asking you why your eyes are yellow, they’re probably just concerned for your health. You could answer by reassuring them and telling you’re ok.
Finding limitations
The difficult thing about Pyruvate Kinase Deficiency is, that it feels like you can do anything. The anaemia is bad, but because the body is adapted to the low Hemoglobin, it is very difficult to think about the boundaries. A lot of people with PKD feel that they have to do everything. They don’t feel that they are sick and the PKD don’t give them too many stress. But after a while the symptoms can sometimes be more upfront, needing more transfusions. Sometimes a patient cannot function on the same Hemoglobin values anymore, so the Hb must go higher and that can create an awareness of being more sick than before.
When it’s getting more apparent that you need to keep yourself limited, it can create a feeling of loss. You might have to acknowledge that the dream job doesn’t fit you right (anymore). Or maybe your employer told you that you couldn’t keep up enough to be a good employee. Maybe you will work, but it’s getting more apparent that outside your work you can’t have a wild social life. Or maybe you’ll find yourself making a choice for not having children because you feel you can’t take care of them enough.
All those choices, wether they are yours or not, they are losses, big or small. And you could say that instead of denying, you must go through a process of mourning. You’ll have to stop for a while and think about that what you so much wanted and that will be lost now.
It’s something that is highly underrated for many people, especially in cultures where social stigma is very important and being tough is a must.
Advice:
- Give yourself the time to make ‘mistakes’. It perfectly normal to want much out of your live. For a lot of persons with PKD this is also possible, so just try as much as you can.
- Get informed, maybe there is something going on with your body that keeps you from reaching your goal. It could be iron storage or other complications. Maybe this can be controlled and you can still reach your dream. Don’t give up too fast.
- If you know you’ve done all you can do, take your time to deal with that. It’s not an easy thing to go through. You shouldn’t rush yourself.
- You could write your “dreamself” a letter. To say how sad you are that you can’t be that person anymore. If you want to, you can make it into a ritual and after the letter is finished you could burn or burry it.
- When you made peace with your limits, find new challenges and remember your live is not meaningless!
Cultural differences
A long time ago, social status was obtained by the family you were born in. So, if your parents were rich your status was good no matter what. In a lot of countries this is still very real today. But in the western world, social status is something that needs to be earned more and more. You need to become something better, you need to be a good mother, a good worker and become a useful member of society.
For people with an illness like Pyruvate Kinase Deficiency, this often means that they feel that their limits shouldn’t be taken serious. They will cross their own limits, because they feel that they must keep up in this fast world. Even talking about it can be a big problem and social support is hard to find.
For people in for instance India, but also within some Christian cultures, there is an opinion that illnesses are something that you’ve deserved in your formal live or that it’s been given by God. It’s something you need to deal with, but there is not a lot of real support.
Within a lot of countries, illness is something to be ashamed of. This means that people with pyruvate kinase deficiency or new parents of a child with PKD struggle to get the right treatment and feel as if they are not taken serious at all or even feel very ashamed. A lot of people in those countries have the feeling that you shouldn’t look for answers yourself and that you have no rights.
Advice:
- If you feel that you or your child has not been treated correctly, look for answers yourself.
- Unicef created the universal rights of the child, which needs to be upheld in the entire world. If you feel that this hasn’t been done, speak up.
- If you feel unsupported, try to build a small network around you. Maybe one friend, a sibling or a counsellor or spiritual person like a vicar, a priest or a rabbi, who you feel that can be trusted.
- Try to be honest with yourself, look at your body and listen to it.
- Look on the internet for more support, there is a very active Facebooksite you can join where you can read a lot and ask anything you need to know.
If you feel like writing something after reading all this, please do. We would really like to hear your story.
Disclaimer: This article is written by patients and is meant for basic informational purposes only. It is not intended to serve as medical advice, substitute for a doctor's appointment or to be used for diagnosing or treating a disease. Users of this website are advised to consult with their physician before making any decisions concerning their health. For details see our full disclaimer.
Pyruvate Kinase Deficiency 