Help get us to Minneapolis!

Our son Chase was born with a rare blood condition called Pyruvate Kinase Deficiency (or PKD for short). It took over a year of testing and poking him weekly in hospital to find out what was causing his hemoglobin to be so low. At the time he was 4 months old and was only discovered due to a innocent heart murmur followed by blood work as the new pediatrician thought he was a little jaundice. Turns out his hemoglobin was critically low and for anyone else would have needed an emergency blood transfusion. But our strong boy was healthy and bigger than other baby his age. Dr's figured it was "his normal" and why he wasn't tiny and lethargic like he should be. So they didnt treat it until we could figure out the cause. Weekly, sometimes twice a week for over 1 year we traveled to the hospital to take blood and check levels, and to send off for testing. Finally at 18 months we had a diagnosis. At the time their was one paragraph online explaining what it was and no drs in canada that knew anything about it. Which left me digging for info, luckily through socail media I found an amazing group of people from all different parts of the world that had been living with it or children with it. They guided me to the drs I needed and provided me with information to bring to our dr until we could get in contact with the Dr in Boston who thankfully offered to help his Dr's here.

Not long after diagnosis he was hospitalized due to fever that had dropped his hemoglobin even lower. He was now lethargic, enough that the Dr's were worried and gave him an emergency blood transfusion.

Since that day, Chase has required monthly blood transfusions. It was traumatizing for a while, every transfusion he was confused and scared, he had to be heild by multiple nurses and myself to put in his IV. Eventually he started to understand and visits became easier.

He is now 10 years old and is the most thoughtful, loving, toughest boy I have ever met. He has 2 younger sisters that aren't affected by his condition, it affects everyone differently, some do not need transfusions and are able to live on a low hemoglobin with only fatigue as a symptom, others only need them when they fall ill and some are like Chase who needs them regularly to be able to have a somewhat normal life, but they only last a few weeks before he starts declining and showing symptoms of needing another transfusion. We have to space them as far as we can because this condition causes him to hold onto iron, which he gets more of every transfusion.

It has put him in iron overload causing deposits to build up in his organs, as of now only his liver is affected, we were able to start meds before it moved to his heart or other major organs which can be fatal.

He gets his hearing and eyes checked regularly as the meds for iron overload can cause problems and also has gallbladder issues which are common with this condition, causing certain foods to make him ill and cause belly pain. He learned very young what foods bothered him and avoided them. Until he starts developing stones to warrant his gallbladder to be removed he takes a med to help with those symptoms.

Research has gone so far since he was diagnosed, theres soo much information online, and they even have their own day! April 30th is PKD day!

in the states they just approved a medication for adults that is helping some bring up hemoglobin allowing them to be transfusion free or not get as many, but it doesnt help everyone. It's only getting into the pediatric trials now so it's not an option here in canada yet, but things are looking promising.

Myself and our 2 girls are also deficient in PK, we are still waiting on genetics for them to see if they have both mutations or are carriers like myself with only 1 "unknown" mutation that contributes to Chases 2nd PK mutation making his hemoglobin die in about 10 days rather than the 120 days it's supposed to live.

Myself and my middle daughter both suffer from fatigue, but have normal hemoglobin numbers.

I have had chronic unexplained fatigue my entire life, with now only finding out this may be the reason.

Carriers for this condition seem to have the same complaints of sever fatigue with no amount of sleep that will help. No research has been done on carriers so it's not concrete, but maybe someday. I unfortunately was put off work as a continuing care assistant about a year after having our 3rd baby. My fatigue became too much and I was unable to safely do my job or take care of my kids. Pain started getting worse and a diagnoses of fibromyalgia was made. Being on disability I have a very fixed income and will be doing everything I can to scrape and save to put towards us making this trip but can only do so much with my own issues.

In july we are invited to the 2nd annual PKD conference in Minneapolis. This year they are announcing the very first set of guidelines for Dr's to follow for PKD patients. This is HUGE if anyone knows what it's like to have Dr's not know how to help you.

I tried to make it as short but informative as possible, for people to understand the importance of why I'm asking for help, which I normally wouldn't. But this is an amazing opportunity that I beleive is super important for our family, especially Chase, as of now he is the only one in nova scotia. With only a few more in Canada. He's never met anyone living the same life as him, kids of all ages will be at this conference!

The foundation is trying to get as many patients as they can to this conference and have managed to be able to pay for accommodations with breakfast and lunch for 4 days to international travelers. We just have to cover our plane tickets, some food and other costs. Which is between $3500 and $4000.

We would be forever thankful to anyone that can donate or share. No amount is too small, it all adds up!

This is an opportunity of a lifetime and an experience we would all benefit from.

Thank you for taking the time to read.