I was diagnosed with Late-Onset Pompe Disease (LOPD) in 2010 at age 45 after many years of inconclusive tests with a whole lot of different specialists!
Although it was not great to hear that I had Pompe, it was actually a relief to finally find out:
a) what I had,
b) that I actually had something,
c) I wasn’t making it up!
I’m 58 years old. I live in Masterton, Wairarapa with my husband Steve. We have miniature horses, goats, a few different breeds of poultry and Indian Runner ducks. I try not to let Pompe stop me from doing the things I love to do. Of course it does affect me in a lot of ways, but I won’t let it stop me!
It is my life’s goal to get Enzyme Replacement Therapy made available to all of us in New Zealand who need it. 76 other countries make this life saving treatment available to their Pompe patients!
I have met so many people from all around the world who have helped me to come to terms with this disease. People who have this disease and really understand what it is all about. I would totally encourage you to sign up to Facebook and discover for yourselves what I mean. Without these friends I would have been truly lost and scared. It’s a small world out there with so many wonderful people. I wish I could have met them all under different circumstances, but feel truly lucky that I have met them at all 🙂
My Journey so far
I think it is important to tell our stories so that others who may be going through the same thing can relate. Let’s get it out there!
It’s hard to recall when I first noticed symptoms. I have always loved riding horses and even as a teenager I was unable to vault onto a horse like everyone else did. I put it down to the fact I had a very big horse and I had further to go! In my 20s I had trouble with “asthma”. Although medication didn’t really seem to help. Late 20’s I noticed I started to feel “heavy”, even though I was slim and fit at the time. I thought maybe it was part of getting closer to my 30s! Early 30s climbing up steps started to become a chore when previously I could run up several flights of stairs easily. I started to feel like I had weights tied to my feet. I would go to the Dr saying “I feel old”. Nothing specific, just didn’t feel right.
Fast forward to 2001 when pregnant with my second son. Had blood tests which showed elevated CK levels. My GP said that could be because I was pregnant, but she repeated the tests after my son was born and the levels were still going up. I was referred to several different specialists including a neurologist who did a muscle biopsy in 2002. The biopsy showed nothing specific and he said short of sending the sample to the States we could wait for 2 years and see him again to see if anything changed. So we saw him again in 2 years time in 2004, nothing much had changed and he said he had originally thought I had muscular dystrophy but because I hadn’t declined in the 2 year period since he saw me last I mustn’t have that.
After a lot of specialist visits and inconclusive tests I said “enough is enough, just leave me alone”!! It was so depressing being shoved from one specialist to another and seeing them all throw their hands in the air and shrugging their shoulders. All I wanted to do was be left alone to look after our boys.
Over time my health deteriorated, I was no longer able to run, walking up inclines, no matter how small, became increasingly difficult. My breathing became a lot worse and even on the maximum amount of asthma medication it did not improve at all. My joints ached, my lower back was in constant pain, I had no energy, the smallest tasks became difficult chores. I could not lay on my back without getting breathless. Just bending down became difficult – forget tying shoes!
In 2006 we moved from Auckland to Masterton and my health was stable for a few years from around 2003. I was glad to be in a new town and was hoping I could stay “under the radar” as far as being constantly tested to see if things had changed in my blood! After a couple of years my new GP noticed my funny breathing. I agreed to further tests “as long as I didn’t get shunted from one specialist to another”! In the end that did happen! Not his fault of course, just something that had to happen because things were getting noticeably bad by then.
Eventually I was referred back to the neurologist I had seen in 2002 and 2004 who suggested there was a good chance I had Pompe Disease and said I should have the blood spot test done and sent to Adelaide in Australia. I did that, and lo and behold he was correct! After all those years, finally there it was.
Some of my symptoms just before I got the diagnoses were:
– constant chatter in my head,
– total lack of energy during the day,
– sleeping most of the day due to a feeling of total exhaustion,
– horrific nightmares – I’m talking monsters and terrifying scenarios,
– cold sweats at night,
– constant headaches,
– muscle twitches (BAD muscle twitches-like don’t stand too close to me or you will get an accidental whack!)
– what felt like bladder infections but no infection present,
– constant pain, particularly in my lower back and legs,
– constant coughing,
– could never get a big enough breath,
– difficulty rising from a seated position.
I actually went to A&E at our local hospital at 4am one morning with the bladder problem because I was totally beside myself with the pain (turns out it was a kidney stone causing the pain). I was given a sedative and laid on my back. BIG MISTAKE! I went into respiratory failure. That was at the end of March 2010. The following week I was sent to Wellington Hospital and given a bipap machine to use at home.
After starting on the bipap breathing machine at nighttime, the nightmares, daytime sleeping, constant headaches, bladder problems and coughing all got better. Even most of the muscle twitches have gone. Therefore, all of that must have been happening to me because of the buildup of Co2 in my system.
Without the bipap I wouldn’t be here now. It changed my life. I don’t have the cold sweats, no nightmares, no headaches, no bladder problems. I still have to have the machine tweaked now and again to get the settings just right for me. But I’m so glad to have it! Ok I look like a total egg wearing it, but at least I’m alive! I tell my kids it’s my Storm Trooper mask lol. They think it’s pretty cool!
Things I miss:
– wearing high heels!!!
– walking without a walking stick
– riding horses
Questions I had when I received the diagnoses:
Q. Can my children get sick with Pompe also?
A. ONLY if their father is a carrier too. HIGHLY unlikely but not impossible, but he will get tested to be sure.
There is currently talk about the fact that “carriers” can exhibit the same symptoms as those who actually have pompe. But the symptoms are much milder.
Q. Will my children be carriers?
A. Yes, absolutely, no doubt they will be a carrier for Pompe.
Q. Can they pass the gene onto their children?
A. Yes they can, but it won’t necessarily happen.
Q. How can I help myself?
A. Surround yourself with people who are in the same boat and know what they are talking about.
– Surround yourself with POSITIVE people!! I cannot emphasise that enough!
– If your support people suck, ditch them and find someone new who gives a damn! They’re out there! We’re out here! Contact us, we DO give a damn! We KNOW exactly what it’s like!
– BE YOUR OWN ADVOCATE! No one will know what on earth Pompe Disease is! Your GP won’t know, your family won’t know, no one will know. Research it! GOOGLE it! Talk to people who have it, ask people about it, push for help, push push push. Ask ask ask. If the people you ask can’t answer your questions, ask someone else!
– Contact the Muscular Dystrophy Association of New Zealand.
I didn’t do this at first, but when I finally did, I wished I had done it right from the start. They are a fabulous organisation. I cannot thank them enough for the wonderful support they have given to us.
Someone asked me today how MDA has helped. I couldn’t really find the words right at that moment. But given time to think about how to answer, the words are…they help you to figure out who to talk to, who can best help you. They don’t boss you around and tell you what to do. They listen to you; I mean REALLY listen. They know the right people to contact and will act as a liaison between you and them. They can suggest things to help you that you would never have thought of, because let’s face it, we probably haven’t been around this track before, but they know all of the ins and outs of how things work. They are passionate and good people.
Just so you know I’m a “normal” person:
Things I love:
My wonderful family!
My gorgeous friends!
– (singing is REALLY good for your lung function!)
High heeled shoes
Cats – particularly Persian Chinchillas
White wine, sparkly or still, surprise me!
Sewing, particularly quilting
Florida Gators of course!!!