Looking For People With Pyruvate Kinase Deficiency.

Hello We have 2 children that was diagnoised when they were babies. They are now 8 and 5. But we are experiencing some different things right now. They have had their spleens removed. SO, they are experiencing high infection issues. Right now we are experiencing gall stones and high plattlets. We just want to interact with someone that has this disorder. We want to learn more about how the patient is doing themselves clinically. Right now we are not having much luck with things. We just need hope....  

tinkerbell74 tinkerbell74
36-40, F
32 Responses Feb 13, 2010

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I am a person with PK Deficiency. If you would like more information about living with this rare blood disorder, please visit the website that has been created by 5 adults who have been living with this disorder.

http://pyruvatekinasedeficiency.com/

I just found a fb book page for people with PK waited to be approved to join :). My son was just diagnosed on Monday at 13 months, we have been testing him for every disease since 4 months. His hemoglobin has been as low as 69 but is now up to 83. He takes folic acid everyday and so far has not been symptomatic. Just pale with some jaundice in his whites of his eyes, some days worse then others but still a very very light tinge. Although I have always questioned if he was sleeper then most babies, but he's a healthy active Lil boy so far and hopefully always. We are expecting our 2nd...and I'm scared this one could have a more severe case.At 16 weeks now

Thanks for the info re the FB page Lillybell. Just waiting to join now. I appreciate you posting. (And I hope all went well with your new bub!)

I have my son, two years old now with PKD since born, doctors diagnosed that after 4 months by genetic analysis. he gets blood transfusion each 3-4 weeks on 7-8 HB.
he is growing up perfectly, getting yellow and Jaundice when HB goes low.
Doctors recommended a spleen removal after a few months, hoping that reduces or eliminates blood transfusion.
may God help us all.

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I was hoping someone could help me out. I have Pyruvate Kinase Deficiency and have a hemoglobin of about 6. I do NOT receive transfusions and have recently been diagnosed with iron overload. My current treatment options are exjade daily or mini phlebotomies about 2 times per month. Has anyone here received phlebotomy treatment for iron overload? And if so, how low does your hemoglobin typically run? Apparently this treatment has been effective with another patient in the Amish Community. However, I don't know at what level his hemoglobin usually is. Any insight would be helpful.Thank you!

Thanks for sharing the article, Mike!

I thought I'd post this article it might give us a small measure of hope for the future: http://www.wired.com/underwire/2013/06/real-true-blood-synthetic/

Artificial blood, if viable, safe, and inexpensive enough would probably allow us to get regular transfusions to alleviate the anemia.

Hi,
Thank you for your explanation of pk in a nutshell!! It was great!

no problem.

I have PKD but was only recently diagnosed after having an unknown heomlytic anemia my whole life.

I have had my spleen and gallbladder removed and periodically take exjade to prevent iron overload.

Has anyone experienced mental illness and, if so, do they believe they could be a possible result of your experiences with PKD ?

Some of my family members think that the illness or the surgeries traumatized me and lead to my developing OCD.

Hey Mike,

Both my brother and I have PKD, and I would definitely agree that the disease induces self esteem issues. My brother also has developed OCD and has seen mental health specialists presumable as a consequence from the disease.

Unfortunately, the disease is so rare that most doctors barely know anything about it much less able to charaterize and correlate to other secondary problems such as mental illness.

However, I would defintely agree that I think about my disease and my condition constantly and have never really considered myself to be "normal". I can only imagine that toll that exacts on anyone's mental health.

Hey man sorry it took me so long to respond to your reply I forgot I posted until 2 days ago.

I certainly haven't felt normal. I grew up in the country away from other people, I've been treated with kid gloves my whole life due to my illness and was home schooled from the 6th grade to college. Then OCD hit at 14 and I had thoughts so screwed up I literally thought I was the only one on the planet to have them.

OCD is a terrible disease. I think in my own experience at least its way worse than the PKD. My heart goes out to your brother.

btw: Has anyone here heard the song infected from repo the genetic opera? http://www.youtube.com/watch?v=32qNNGnT2zE

Its not a very good song but its like 90% the story of my life (the only difference I recall is Alexa blames her parents and I don't)

My daughter has PKD. She ws diagnosed at age 2 she is now 6. She has a one blood transfusion and is on folic acid everyday. She has not had any surgeries yet. Im wondering why she complain of stomach pain everyday. Not a day goes by that she doesnt. She is very defient. She was also diagnosed with ODD. She is very angry. I have 2 other children that show no signs of PKD.

Hi Courtney,

Has your daughter been examined for gallstones? Unfortunatley, pigment stones induced by high bilirubin counts are very hard to see on an ultrasound, but they can be seen via MRI.

Have you had a recent blood count, and what does her bilirubin run? Doctors can tell indirect/direct bilirubin to see if she is experiencing a blockage in her common bile duct that will give very intense abdominal pains.

Depending on the severity of her condition, she may need to have her gallbladder removed.

Hope this helps!

I am a 30 year olm male. I have PKD. I had my spleen removed at 7. Went through alot of jaundice in my teenage years. As I got older that went away. I have never had a transfusion. My mom denied the recommendation (which I am thankful) Some things work themselves out. I drink and smoke alot through my 20's. The only complication I have now is that I think I have gallstones. Major pains every now and then in my abdominal. Good luck to everyone out there!

Hello, my name is Kristina and my son who just turned 2 has PKD. It took a long time for doctors to diagnose him, and he is the only one at the sick kids we go to who has it. So it is nice to find this site where i can see many others are in similar situations. He is still young, so has not had any surgeries yet..but we are aware they may happen. We are fortunate enough that he has not needed a blood transfusion yet...his hemoglobin was pretty stable around 60 for awhile and has crept up to 99 over the past two years..so hematologists are happy. He is just on folic acid supplement everyday. <br />
We just found out we are pregnant again, so I am really nervous about the next baby having a more severe form of PKD as my son's appears to be more 'mild'. Did anyone have the genetic testing done when pregnant to find out if their next child would have PK?

I am really pleased to have found this link as trying to find any support groups or people with PKD is really difficult.<br />
<br />
We have a 1-year-old boy who spent the first 10 days of life in intensive care. The doctors initially thought he had G-6PD and needed an emergency blood exchange transfusion within the first 12 hours after birth. We were told if they didn’t get the blood in time (this was when there was lots of snow and roads were shut) that he would probably get brain damage and even worse possibly not pull through. He was diagnosed with PKD around 3 1/2 months from birth, as his HB was 4.9. So far he has had 13 blood transfusions to date and current transfuse is HB 7-8 and averaging blood transfusions around every 6-8 weeks.<br />
<br />
Illnesses experienced: <br />
He has also had Pseudomonas at 6 1/2 months from when he had a pic line, at 8 months he had E.coli (pic line infection), then had his first portacath insertion at 9 months of age but subesquently had Giardia (not line related but bad tummy infection) at 9 months . Second portacath insertion at 14 months (as the first one had unfortunately moved)<br />
<br />
At our last appointment at GOSH we have been discussing with our consultant about a splenectomy and chelation therapy.<br />
<br />
After reading some really interesting stories we are very apprehensive about a splenectomy because it seems it can leave you prone to infection.<br />
<br />
We also have another baby boy who is 5 months old and has since been tested for PKD, whilst he is a carrier like us he does not have PKD. <br />
<br />
I would be really keen to get in touch with any parents especially in UK that can give us an insight into splenectomy and chelation therapy side effect etc.

Hi MG79,
I'm hoping to find out some info re the splenectomy idea too... We are currently trying to resist doing it, at least until our little girl is a bit older... I hope we find some guidance from this forum, as it's not easy to find anyone else with PKD.
Fingers crossed.
Ali

Hi Alison, its a difficult one, we spoke to our consultant about it 2 weeks back and we raised our concerns about the whole infection issue mainly because of the comments I have seen from others on this site. He tried to reassure us to say the splenectomy is very successful, personally I'm not all that convinced as once its done its done - so I really want to find out more research before we go down that route. It seems the problem is for us (cant speak for everyone as I don’t know how severe their PKD conditions are) but if you opt not to have a splenectomy then it will be chelation therapy and I don’t think the side effects are that great (not sure what they are yet). Back to the splenectomy we have been advised that they would want to do it from the age of 3-5? I see your daughter is 5 and hasn’t had that yet, have you had the chelation therapy at all?

I have also been trying to find this if anyone hasn’t seen it and would be interested:

http://www.patient.co.uk/doctor/Pyruvate-Kinase-Deficiency.htm

Mike

We have also been advised to try splenectomy. Our hematologist recommended it for last Dec, prior to school entry. At this stage we have decided to 'wait and see'. (We have an wonderful paed who is supportive of all my crazy ideas).
Coco initially had transfusions 2 monthly, then 3, 4 and once even 6monthly. She seems to tolerate the low Hb quite well and we usually transfuse at 60 or just below. I have a home test kit to monitor if I'm worried. We have never had a port or anything like that, and at last check her iron stores were at the lower level of normal, so we haven't had to look into iron chelation yet. We have been told she has a severe form of PKD, but it seems everyone on this site does!
I guess I have a weird idea that she will somehow learn to tolerate this, and not need any surgery, and we do lots of things to try and help her system to cope: Chiropractic, acupuncture, naturopathy and bush flower essences.... We also give her high doses of omega 3 and vit E, in addition to folate and B12. I'm not sure if any/ all of this works, but it seems our transfusion frequency has improved since doing all this.
I emailed our haematol today, and she mentioned that stem cell transplant might be something to consider, so perhaps you'd like to look at that too?
And lastly, a few years ago we got a Hb home test kits, which has been really helpful in helping us to manage this ourselves. Let me know if you'd like more info on that.
I'd love to hear more if you think of anything else that helps you.
Ali

The stem cell transplant sounds interesting and I read a case where by it was successful, have a read through this (if you haven’t already) http://www.nature.com/bmt/journal/v26/n6/full/1702576a.html

The HB home testing kits looks really useful, we have a community nurse who comes round every 3/4 weeks to check Marley’s levels but for peace of mind I think we may well look into getting one so thanks for the heads up! Could you send me some info on the ones you use and their accuracy? Out of interest which specialist children’s hospital are you assign with as we are at Great Ormond Street? Mike mike_glover79@yahoo.co.uk

Hi MG79,

I'm 41 years old, and my brother and I were the #3 and #4 cases of PKD diagnosed at the Mayo Clinic on Minnesota. We were the first ever sibling pair diagnosed with PKD.

The reason for splenectomy is stabilize the hemoglobin to prevent blood transfusions. I had transfusions every 6 weeks from birth until age 4 when my spleen was removed. My "normal" hemoglobin then stabilized to be around 8-8.5 grams and the only time I needed a transfusion from then on was during a "hemolytic crisis" when I was severly ill.

Just recently, I resumed monthly transfusion as I'm getting much old and need the good blood to help with my energy levels so that I can keep up.

Anyway, I just wanted to chime in that I'm probably glad that my parents decided to remove my spleen as mandatory transfusions would have been a rough way to go.

Hope this perspective helps!

Hi Ardvarkk,

Thanks for your info and apologies I haven't responded sooner but I haven't been on this site for quite some time.

How are you and your brother getting on now? Do you have any regrets about the spleen removal or where you in a position where this just had to be done?

Thank you
Mike

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Hi, <br />
Our 5 year old daughter has PKD, and generally has transfusions every 4months. She is well in herself and seems to tolerate the low levels (we think she sits around 60-70 for much of the time) quite well. Her hematologist is keen to do a splenectomy, and I was wondering if any of you have any ideas/ advice on this. (I see that many of you have had them).<br />
Also, do any of you have problems with your tooth enamel from the high bilirubin?<br />
We also notice she has poor gross motor skills, is this common for you too?<br />
Any advice or insights would be greatly appreciated as we can't find anyone else with this condition to talk to.<br />
Thank you,<br />
Alison

Hi Alison, Ive not been on this site for some time, just wanted to check in to see how your daughter is doing and if you managed to avoid the whole splenectomy issue?...Marley will be starting school in September so that will be interesting. I have noticed he can get very frustrated and angry but I'm not sure if thats just a an age thing or a mix of age and having PKD! So far we've avoided the splenectomy, 28 blood transfusion now. He was really quite ill last week and spent a few days in hospital but is back on the mend. The only other site I've recently joined is making contact.org but there only seems to be 1 person with PKD on there and it doesn't state if there are in the UK or overseas. GOSH which we are assigned to as well as our local hospital don't have any children with PKD so its really hard to get in touch with people. Thank you. Mike

Hi Mike,
Coco is now 8yrs and we still haven't done the splenectomy. She is doing great, always jaundiced now (she used to be pink for a while after transfusions- not any more) and we are transfusing every school holidays.
We monitor her iron stores, and thus far she is still on the lower limits of normal. We also monitor B12 and folate.
Her spleen is now quite enlarged, so I guess there is a possibility that at some stage she may require splenectomy purely due to it's size.
She also has an enlarged liver.
Coco is well in herself and doesn't suffer from any immune system compromise.
Yes, we have mood swings, and to be honest, it's the main reason for the transfusions, as she gets fractious around Hb of 6, and cries at the smallest things (at home- the teachers at school say she's fine there).
Coco usually sits around HB 7, just to give you an idea....
She is able to do most things kids her age do, including swimming lessons and gymnastics.
Coco's main issue so far has been her teeth: hypoblastic enamel due to the hyperbilirubinaemia. She's had four molars removed and lots of repairs. The haemotolo wanted to remove the spleen at the same time, but we resisited "for now".
Her current health regime is chiropractic adjustments and aromatherapy.
Does that help?
Ali

Hi Ali,

Thanks for the update and glad to hear she is doing well.

That's interesting Coco has had issues with her teeth as Marley was diagnosed with hypo mineralisation defects with post-eruptive breakdown. He was admitted to Evelina Hospital where he had 6 crowns and 4 fillings to save his milk teeth.

May I ask what ask caused the enlargement the liver, is that the amount of blood transfusions or PKD in general?

Marley also gets upset very easily but again wasn't sure if that was an age thing.

Does the chiropractic adjustments and aromatherapy work?

Thank you,
Mike

Hi Mike,

Regarding the teeth, Coco's (paed) dentist assures me it is due to the hyperbilirubinameia causing the hypoblastic enamel. Her teeth seem to come through okay, but then the enamel breaks down. She has had four molars removed and multiple fillings and sealants. Most recently a front tooth that looked fine developed a blemish and had to be sealed, which was a bummer. Her dentists is awesome: very soothing and reassures me that there is always something we can do.

Liver and spleen enlargement are due to the breakdown of blood cells (as far as I know).

I am a chiro, so I guess that's pretty easy for me to do- and yes, they help with making sure she is at her best. I suspect that is the reason why she might be going so much better than what was originally suggested. Her moods are also more balanced when she has just been adjusted.

The aromatherapy is just a new thing we are trying. I've been reading up on gene theory, and am trying to provide the best environment for change. I don't really know what the impact may be (if any) but hey, it's worth a try. (We have tried many, many crazy things). If nothing else, Coco likes knowing that there is something she can do to take action herself when she is feeling overwhelmed, and fractious (this is especially the case when she Hb is around 6, and she knows the transfusion is imminent).

I see Belle joined the FB group. They seem lovely. And already there is something I need to follow up: I assumed the ferritn levels were all we needed to check re Iron loading, but apparently not. Grrr.

It also seems that splenectomy is pretty common, but I guess we are still trying to wait that out. I suspect the time will come (as Coco's spleen is pretty big these days). I just feel that I would like to wait as long as possible and the prophylactic use of antibiotics doesn't sit that well with me, at this stage, but I guess if we have to, we have to... My underlying feeling is that a stem cell transplant might one day be something we choose, and the spleen would be good to have if we choose that path.

Nice to hear from you again. Perhaps I'll see you guys on FB.
ali

1 More Response

I am a 35 year old woman with PKD. I am surprised to see so many people living with this condition. I too had a splenectomy at age 8 and my gallbladder removed at age 12. These treatment worked I didn't have to have any transfusions for 6 years. Then the dreaded puberty hit and those hormones wreck havock with my body. Then I started requiring transfusions about every 3 months. I was doing well until out of the blue I had 5 pulmonary embolisms. These caused a downhill effect. From there it went to heart damage, to septicemia, MRSA, and here recently kidney failure. I, too, have been at deaths door and back. I also lost my ability to have children due to this disease but I won't bore you with those details. But I feel like I am the lucky one because after all of this there is no way I could watch anyone of my family members go through it. My HEART goes out to you all who are writing for your family members. I feel so lucky to be me, somebody had to be and I'm glad it wasn't my sister. I love her too much to stand and watch her go through it. How many times do we say, " I'd take it for you if I could". Well I get to. If there is any way I can help you all get through it, reply to me.

May I ask what the pulmonary embolisms were from?
Thanks,
Ali

I am mother of two sons with pkd now aged 41 and 38. They have both experienced gallstones, diabetes osteoporosis iron overload, transfusions, septicaemia etc. They are both now pretty stable but have been through the mill. Presently taking penicillan folic acid persantin and exjade to chelate the excess iron. If can be any help please e mail

Hello, My name is Renae and used to be on a PKD support group that Justine on this site was in charge of. I really miss that site. My daughter Lindsey has PKD, and has since birth. She is 12 years old. She had transfusions often in her first year of life. She had her gallbladder removed at age 5 due to hemolytic gallstones. She had a transfusion a year age. Her hemglobin runs low always. 7.3 at latest, checked 2 weeks ago. Doctors are discussing Splenectomy due to her growth slowing down, and low hemoglobin levels. Sound like alot of you have already had spleens removed. Any advice on this would be appreciated. We have been reluctant to have this done. She has always been juandiced, less in the summer. She leads as normal as life as she can, and is going to be a cheerleader in school this year. <br />
Will end for now. Could go on and on. Will keep this site on favorites and check back. <br />
Thanks, Renae.. Lindsey's MOM

Hi Renae, We have a 5 year old daughter with PKD who has 3-4 monthly transfusions, and we too are trying to avoid the splenectomy at this stage. I see your last post was about a year ago, so I was wondering what you decided to do with Lindsey, and how she going now?
Thanks,
Ali

Hello to everyone on here. I'm so shocked to see so many other people with pk defiency. I'm 23 year old female who has has pk defiency since birth. I had my spleen removed at 4 years old and gall bladder removed at 11. There were slight complications when had my spleen out at 4 I got meningitis and septecimia which was very frightening for my mum. I'm currently on penicillin and folic acid every day and I was on exjade and oral iron Chelator which has now had to be stopped because I'm 3 months pregnant with my first child. I currently having 3 units of blood every 3-4 weeks which has really increased my ferritin. Every day is a struggle at the moment and I get so tired and literally exhausted. I don't know if this is down to the stopping of my meds or the fact that I'm tryinng to provide for my baby on such a low hb. My hb is usually around 8 and I get transfused to about 11-12. I catch infections really easily and I find day to day tasks quite hard I try not to let things get me down but it is hard. I come from london and see a great professor who diagnosed me when I was born. It's just a shame there's not that much research into pk!!! I'm told aswell there's not alot of women with it. I really want to know is of any women who have had children and how did they cope through pregnancy. ? Was there any complications? Am I going to e able to cope? An did any of you have iron overload aswell? I would be so great ful to hear some news back as I don't seem to be getting any answers . It's just nice to know I'm not the only one. Hope to hear some feedback Laura x :-)

My name is Megan and I am 26 years old. I was diagnosed with PKD when I was about a year old. I had my spleen removed shortly after the diagnosis and when I was 14 I had my gallbladder removed. When I was a baby I had numerous blood transfusions but my doctor thought it was actually worsening my condition because my body wasn't used to the 'healthy' blood, and it was essentially throwing my system into shock. I haven't had a transfusion since. My jaundice goes through stages where it is okay then gets very bad but I try to recognize what I'm doing when I turn really yellow. I am careful not to do too much cardio because that makes it worse and I end up feeling very tired for days afterward.<br />
<br />
I read a story about a little boy that had a bone marrow transplant for PKD and has been symptom free even since. Has anyone else heard or this or any other experimental cures for PKD? <br />
<br />
Megan<br />
United States

Hi Megan, I saw that too re the bone marrow, but in the study they suggested that usually the severity of the PKD didn't warrant such a drastic intervention. In a 3 year follow up he was great, and hadn't needed any further transfusions.
Could I ask you, you mentioned you try to take notice of things that seem to make you more jaundice- any ideas of what does that?Thanks,
ali

Hi Ali,
Because PKD causes extreme anemia I notice myself feeling unwell and getting extremely jaundice after hard workouts, swimming alot, and even not getting enough rest. I now take phenobarbital to help with the jaundice (it helps to break down the bilirubin in the liver) and no one hardly ever notices or comments about my yellow pallor anymore. I'm also looking into social security because severe hemolytic anemia is considered to be a disability. If you have any other questions or want to talk you can email me anytime @ megdanae@hotmail.com

Megan

Thanks for that Megan- I didn't know that about the phenobarb.
I just spoke to our hematologist re the study you mentioned, and she suggested that we may like to consider stem cell transplant, especially as Coco has a brother, who could be a good match.
I haven't investigated it yet- the websites are often talking about people who have various cancers, but it appears that chemotherapy would be required prior to the "transplant" which is actually all done via blood.
One of the risks of chemo being a female would be the possible infertility, so I guess that would have to be considered..
I noticed you've had a splenectomy- I was wondering if you thing that you've been more prone to infections due to that?
Thanks again,
Ali

Hello my name is Emma. My daughter Maisie is 3 and been diagnosed with PK Deficiency. She has had it since birth althoughb it wasn't diagnosed until she was 14months old. Her blood transfusions started at birth and were every 2-3 weeks. She was really yellow, with yellow eyes. Her blood transfusions started to stretch out to every 4-6 weeks when she reached age 2, and are now currently every 9 weeks. Doctors are still sayin probable PK Deficiency as they r still not sure for definate and there is no definative test they can do until Maisie is transfusion free for 10weeks. She had a hickman line put in when she was 8 wks old, which blocked after a wk, so she was taken back 2 theatre to have it removed. She then had a porter cath inserted when she was 1. We found it really good until feb this year when it also blocked. She was taken back down to theatre to hav it removed. When the surgeons removed the port, they saw that the tube that goes from the port into the vein had detached and was lodged in maisies hearmt. They had to insert a wire through maisies groin and straight into the heart 2 remove the wire, so we have had a bit of a hard time. We also have a younger daughter who is 1, but doesn't have PK Deficiency. Maisie leads a normal life and is very happy and loving and also quite cheeky ha. Obviously she's always quite pale, skin and eyes are jaundiced ansd when her HB is dropping she gets really weak, tired, loses apetite and really bad behaviour. But we don't shout at her as we don't know how she's feeling, we can only imagine that she must be feeling really crappy. She's much taller than most of the children her age. Its good 2 hear bout other people with PK Deficiency as maisie is the only child in Alder Hey Childrens Hospital with this condition so we felt a bit alone, and doctors can't really tell us much about it as not much has been researched about it. Maisie is currently on exjade and it seems to be doin the trick. She had side effects wen it was increased, so I was decreased again, but she's doing fine. We look forward to hearing more about PKD...thankyou

Hey,<br />
<br />
My name Is Maaike, I have PKdef and I'm from the Netherlands. I'm a 36 year old mother off two healthy boys. I have about 3 transfusions a year normally, with a hb level off around 4.0 mmol/l (<6 g/dl). Last year I tried a experimental drugs to keep my hb stabil. It worked okay, but because off the side affect I quit a couple off weeks ago. <br />
<br />
I used to live a quit normal life. I went to school and have a great student-time. I partied a lot :) . Unfortunably my condition is not so good anymore. I have a lot off pains in my joints and mussles, and experians problems off weaker connective tissue.<br />
It could wel be that I have other problems that are not connected to the PKDef, but the doctors still don't know.<br />
<br />
I use Exjade to lower my Fe, wich works very well!! This week I have to go and have a transfusion again..<br />
<br />
I would like to know more international people with PKdef and maybe even some mothers so we can talk about the hurdles we have to take by combining caring for our children and our lower energielevel. <br />
<br />
Greeting from the Netherlands,<br />
<br />
Maaike

hey Maaike,

ik ben kelly en wij hebben 7 september een zoontje siem gekreen, hij kreeg de diagnose pk deficientie!!!wij zitten nu in de molen en zouden het fijn vinden een keermet iemand te sreken, kan dat?groetjes kelly

Hey,<br />
I am from Belgium /Europe and happy to find other people with PKD. I am 48 y/o and diagnosed with PKD since i was 16 y/o. Since that time i have yellow eys, jandice . I had gallbladder stones at the age of 28 y/o and they remove my gallbladder. Never had bloodtransfusion, i guess there are many gradations of PKD. Althought i have low energy i try to sport as much as i can. But at the end my blood decided how far i can go. I have a blood check up every 6 months. I am curieus how other people deal with the jandice and is every body able to have a normal life, normal fulltime job, study? <br />
<br />
Greetz from Europe

Wow - so many people!<br />
<br />
I was born in 1975 (so am now 35) and my sister in 1978 and we were both diagnosed with PKD at birth.<br />
<br />
Both of us have had gall stones and had our gall bladders removed in our teens, she has had her spleen removed, I have not yet.<br />
<br />
With age I find it getting worse, since my mid 20s I have had three transfusions, I am very yellow and constantly out of breath (and a non-smoker, just to add!) apart from that I am in fine health.<br />
<br />
I personally find just the day-to-day lack of energy and the general "icky-ness" of my looks almost crippling to my life - I would be very happy to hear from other "sufferers" of PKD, especially what they do to get more energy and get through the day - what foods are good etc?<br />
<br />
my mail - gregcarlpearson(at)gmail(dot)com

Hi Greg,

I'm 41 and diagnosed with PKD at birth. I had my spleen removed at age 4 and gallbladder at age 19. I had occasional blood transfusions after age 4 when I was really sick.

However, like you I became very tired with limited energy in my late 30s. I started to once again have regular blood transfusion every 4 weeks. My "normal" hemoglobin runs 8-8.5g, but transfusions will put me above 12. I don't necessarily have more energy to do stuff, but I do find that my stamina is much better. I look better too as I'm not as yellow or jaundiced.

Anyway, since I started transfusion therapy, I will probably continue to do this for the rest of my life.

Hope this helps!

Hey there,<br />
<br />
My older brother and i have both had PKD since birth, i'm 22 now he's 23. We have been transfusion dependant since then, transfusing every 2 weeks until splenectomy at age 5, then transfusing every 4 weeks. We have never had any problems with gall stones, praise God, but have had our fair share of portacaths, infections and complications. I also had the added complication of Leukaemia and bi lateral hip replacements last year. We are both very happy and love life, although he gets sicker alot more than I do. My transfusions now last about 12 weeks, if i dont get sick. We both have quite drastic iron overload, and have been on desferael since age 2, and have recently started Exjade, which is another iron treatment that is dispersable tablets instead of needles which is nice. The lowest HB iv had has been 3.8 but I sit between 7.4 and 9.8, depending on if my body decides to make red cells or not. We're both jaundace most of the time and generally look slightly more tanned than our friends, but people just accept that just as us. I am currently living overseas which is fantastic, as i never thought i'd be able to live outside of Australia. My brother is still transfusing every 4 weeks and his HB rests about 8.5 i think, but he is tired all the time, where as my body seems to be able to handle the lower HB level. If anyone wants to get in contact with me i would LOVE to talk to others who have this disorder, I've only known my brother and i to have it, and while it's been great to have him i would love to hear other people's experiences too :) my email address is bindatookherpuffa2mucherella@hotmail.com put PKD as the subject :) God Bless :D

Hi guys,<br />
Although i am not a piruvate kinase deficient but I would be glad if you accepted me as a friend.<br />
I am a RBCs disorder patient too. but a kind called thalassemia (defect in beta hemoglobin synthesis)<br />
I need to know more about your disease (PK)<br />
what is the range and degree of anemia?<br />
Do you ALL take regular blood transfusions or not ALL of you?<br />
what is the degree of anemia?<br />
thanks a lot.<br />
Mohamed

Hello All,<br />
<br />
I have enjoyed reading and connecting with others with Pyruvate Kinase. I have chronic iron overload and have been on IV Desferal treatments since May 2008. It took ten years to diagnose me after going to the doctors with symptons, it infurates me how little the doctors truely know. I am interested in finding out about physicians you or your children see. Are they specialist? If so do you feel they are educated in specific disease? . I was followed for years between 1970 thru 1985, by Dr. Tanaka, which is one of the doctors that discovered the disease in 1961. But most doctors have only read about PK in text books. All Pk identified should be tested for iron overload. Glad to see others posting there is not a lot info out there. If any of you do not feel comfortable posting info my email is kcrazikim@gmail.com<br />
Thanks to all for sharing.

hi great to finally hear of other people with pkd, i have 2 children with this disorder now age 5 and 9. Have had some pretty rough times in the past, blood transfusions, splenectomies, gall stones,things going ok at the moment, but always on the look out, both on antibiotic and folic acid daily,

Hi,<br />
<br />
I am a 42 year old male. I have had PK since birth and have had a few hospitalisations over the years, in fact so many a major part of my schooling was done in hospitals. I have had my gall bladder removed and had a number of transfusions. I have also suffered an aplastic crisis, not much fun. <br />
However, I have managed to complete a normal life and although I am very yellow from time to time and suffer occasionally from the normal complications I am fit and happy. I suffer from acute gout as a result of PK but have medication that stops this most of the time. I am having a bit of a rough time at the moment because I am hitting the gym too much and think it is breaking my blood down too quickly. However I still have more energy then most of those around me.<br />
<br />
My questions to others are as follows:-<br />
Has anybody’s PK led to cirrhosis of the liver? <br />
Has anybody had problems with their lower legs, to include fluid build up gout?<br />
<br />
Be happy, keep fit and remember PMA works wonders.

I'm just wondering what PMA is? Thanks, Ali

Hello all, very cool to finally find some other people with this disease, comforting in a way. I am a 29 year old active male and have had PKD since birth. I endured a splenectomy at the age of 2 and a cholecystectomy at the ripe old age of 26. I too received chronic transfusions until the age of 16 when it was suggested by a doctor that I make an attempt to live life with a lower hematocrit, which I have done well. I have not required a transfusion since then. I too have taken both IV chelators and now an oral one. (Thank You FDA!) I live my life as fully as possible participating in many sports and other physical activities. I never let the jaundice or other stuff get me down. I would love to talk to anyone about this. Thanks

I'm 23 Diagnosed with Severe PKD at birth , transfusions every 4-6 weeks until about a year ago I did a trial to see how long I could possibly go without a transfusion now I only go every 10 weeks. I have been on medications to remove iron since I was 7. Spleen was also removed at a young age. <br />
Please feel free to message me, It's nice to hear others stories and have others to discuss PKD with.<br />
Victoria

I'm actually 19 years old and was diagnosed with PKD when I was four years old. I guess I am not the only person who is interested in knowing someone else out here in this world that has the same medical condition as myself. Over the years, I have completed high school with excellent grades and participated in varisty volleyball all throughout high school..which i never thought would happen. I have a pale-ish skin tone and jaundice too. As much as I hate it, I know i can't change it. Recently, I have not experienced many cases of going to the hospital after a fever of 100....not since I was 17 years old...thank god. but I just found out I have chronic iron overload from all the transfusions I had throughout my childhood. Tomorrow I will start the new mediciation along with the others I'm taking. <br />
<br />
I hope this helps you ladies! :)<br />
please reply!<br />
Shannon

Hi,<br />
I have a 10 yrs old son who has pyruvate kinase deficiency. One of my niece has it, too. My son, Caleb had a severe PKD when he was born and removed his spleen when he was 4. He had a gallbladder stone so we removed his gallbladder, too. It is very common for a hemolytic anemia patients to go through these steps. Caleb is pale all the time. His eyes are yellow, jandice. But, he is a happy camper despite of his condition and he is doing well in his school. I love to exchange the information with you anytime. I used to host a PKD support website at MSN but, unfortunately that site is closed. But, you can still read all the posting from many different families with PKD at Multiply. <br />
<br />
Justine <br />
caryandjustine@hotmail.com<br />
http://pkdsupportgroup.multiply.com/

Hello,<br />
I am a 52 years of age, I have pyruvate Kinase Deficiency, diagnosed at the age of nine years. I have been close to deaths door but God whom I believe is my Grace. I have given birth to 5 children, my oldest is 33, and the youngest 22. I will pray Grace will be on your children. <br />
Kcrazikim