Ok so last week I didn't do a blog and thought no one would notice. But someone said "hey you didn't do a blog this week"!!! I was worried people might have been getting bored with them and no one would notice if I missed one! Sorry to my avid reader lol.
Last week was my halfway point in this clinical trial. I did loads of tests, the same as I did when I arrived. Pulmonary function, quantitative muscle testing, 6 minute walk test, chest x-ray, ECG, MRI. We don't get to know what the results are. So, neither do you lol.
Ok if you really are wondering what "quantitative muscle testing" is...
On Thursday I celebrated my first ever Thanksgiving. I was fortunate to be invited to Katie and Dean's home to share Thanksgiving with their wonderful family and friends.
We had turkey with stuffing and cranberry sauce, broccoli, beans, mashed potato, sweet potato (or kumara as we know it) which was mashed and had a yummy topping on it of pecan nuts and something sweet. I will have to find out what that was! I also need Dean's recipe for stuffing!
For dessert there was apple pie, pumpkin pie, chocolate puddings...I had pumpkin pie for the very first time! It was yummy!
There were about 20 people there from all over the world. America, Canada, Alaska, New Zealand, Germany...it was fabulous! Lovely memories to take home to New Zealand. Thank you Bedford family, you guys rock!! :)
Yesterday marked the last tailgate of the season. I was going to go but then I had a phonecall saying that a special guest was coming to stay with me.
"Blossom" is my new foster cat from the rescue centre. I wish I had thought of doing this when I got here! I have missed my cats at home, so I have foster cats now. Yaaaay! As you can see, Blossom has made herself quite at home :)
If you're thinking of something nice to get yourself for Christmas, how about a rescue cat?
They come in all shapes and sizes, colours and fluff length. There is a purrrrrsonality to suit everyone. They're all "fixed" up so no problem with any unexpected population explosions, and they have a lot of love to share :)
On a recent trip around the East coast of Florida there were many places of interest...
Now this is a very cool place! On a trip to Miami and the Florida Keys a visit to the Coral Castle is a must!
"Built by one man, Edward Leedskalnin. From 1923 to 1951, Ed single-handedly and secretly carved over 1,100 tons of coral rock, and his unknown process has created one of the world's most mysterious accomplishments. Open every day, the Coral Castle Museum welcomes visitors from around the world to explore this enchanting South Florida destination".
Ed built his creations for his lost love who left him the night before their wedding. She was 16, he was 26. Interestingly, and probably not coincidentally, there are 16 steps leading up to his bedroom atop his castle. Rock star Billy Idol wrote his hit song, “Sweet Sixteen” about Ed’s lost love. There are photos of Billy Idol taken right here sitting on the various coral "chairs" and "beds".
It was a real pleasure to visit such a place which was obviously built with so much passion. I would have loved to have met Ed.
Actually Daytona was a dive.
The large sign says it is the "World's Most Famous Beach". One really has to ask the question "WHY"???
One of the biggest things that spoil it is that all of the hotels are on the beach side of the road. So as you drive along you only get a glimpse of the sea every now and again. You are able to drive ONTO the beach, but not on this particular day because there was a very high tide.
The upside to Daytona was seeing the racecar track. E-NOR-MOUS!
Kennedy Space Centre
GO THERE! Spent a whole day there. Plenty to see, all of the history of the space flights. Very very interesting!
They provide tour buses from the main tourist part of the complex out to where all of the launch pads and buildings are. The picture above is where the shuttles launch from. There is a building there which is so huge that it takes 45 minutes for the door to open!
Seeing Saturn V there in all its glory was magnificent!
I remember when my brother and I were very small, Dad took us to see one of the modules that the astronauts landed back to earth in. Well they used to land in the sea and then get picked up. I just wish I could remember which one it was. It was probably one of the ones I was looking at the other day!
South Beach, Miami
GORGEOUS! Didn't see Horatio, but I had the feeling he was going to pop out from behind a palm tree at any moment. And there are a LOT of palm trees!!
I've never been a fan of art deco, which I will be lambasted for since I come from a city called "Napier" which is known as the "art deco capital of the world". I have to say though that the art deco in Miami is so much nicer! The city is very clean, the people polite, shopping is as cheap or as expensive as you like and there is something there for everybody.
The mannequins have "fake boob" sized chests and extremely skinny waists lol. Which is kind of indicative of a lot of the ladies you see around there. Just not me!
There were suprisingly cheap hotels there too. My room was in a very old hotel but it was cutely quaint, cheap, clean and the service was excellent. I think it was around $60 for the night and included breakfast. It was central to everything and in walking/scootering distance to the nightlife, shopping, beach, bars and eateries. I had my first ever Cuban meal. Did you know you can eat those yucca plants that are growing your yard?! I didn't! I think it was boiled, and then sliced and coated in lemon butter with parsely. It looked a little like sliced up apple and tasted a little like boiled potato.
Thinking about cheap hotels...This is my new friend from Titusville.
He was there to greet me when I woke up after my first and LAST night at that hotel. When I say "cheap", I mean CHEAP and NASTY!
"Days Inn" Titusville, give it a MISS!
I'm not sure I got the best out of this place. I think I need to go back, but do research on it beforehand so I know what is there.
Sunset over the Florida Keys. Just gorgeous :)
And another week gone!
This week I want to include some information from the conference in Texas. It won’t be too scientific...I hope!
There were about a dozen topics covered, but I will just go into a few here. The following contains some extracts from the conference program and also some of my own thoughts and observations.
History of Pompe
Pompe was discovered in 1932 by J C Pompe. Improved understanding of the nature of Pompe disease has led to the search for treatments, which so far has led us to enzyme replacement therapy (ERT). The scientific and industrial development of ERT is intertwined with the growth of an international Pompe community. We now have patients, scientists and industry working together towards a common goal.
What is Pompe?
Pompe disease is a rare, inherited and often fatal disorder that disables the heart and muscles. It is caused by mutations in a gene that makes an enzyme called alpha-glucosidase (GAA). Normally, the body uses GAA to break down glycogen, a stored form of sugar used for energy. But in Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme. Excessive amounts of glycogen accumulate everywhere in the body, but the cells of the heart and skeletal muscles are the most seriously affected.
There was a large-scale newborn screening pilot program conducted in Taiwan from October 2005 to March 2008. The screening involved measuring GAA activity in dried blood spots (This is how I was diagnosed last year). 6 newborns were classified as having infantile-onset Pompe disease and were treated within a week after the diagnoses. They all demonstrated normalisation of the cardiac size and muscle pathology with normal physical growth and age-appropriate gains in motor development. 13 newborns were also assumed to have later-onset Pompe disease and are being monitored.
Almost all patients with Pompe disease have been misdiagnosed for years and years because even though the clinical presentation of Pompe disease is well described despite the disease being so rare, most doctors are unaware of the disease because of its rarity. Misdiagnoses are also often caused by the use of sub-optimal diagnostic materials and by misinterpretation of the diagnostic results.
Newborn screening reduces the role of physicians in the diagnostic process as the screening activity identifies the disease before the onset of clinical symptoms. It is well established that the earlier treatment begins, the better the outcome for the patient.
With misdiagnoses happening most often, and lack of treatment available in New Zealand, we are clearly in need of catching up with the rest of the world in the way we approach this disease and spreading the awareness of it.
Gene therapy (my favourite topic!)
Some very clever people have been doing research into the potential to treat Pompe patients via gene transfer based therapeutics. This research is ongoing and looking extremely promising for those of us with Pompe disease. Gene transfer has been done directly into affected muscles. However muscles more distant from those were not corrected. So, in come the Gene Transfer Technologies which can allow correction for potentially ALL the affected muscles in a Pompe patient. In fact, it has been confirmed that a simple intravenous delivery of gene transfer vectors resulted in high level transfer of the gene into the liver. The liver sustained protein secretion into the blood stream over long periods of time. This resulted in long term correction of glycogen storage in multiple muscle groups. Furthermore, studies have verified for the first time that muscle strength could be improved rapidly as well as preserved long after the initial injection of the gene transfer vector occurred.
At the end of the conference we had a round table patient discussion led by Maryze Schoneveld van der Linde, a patient from The Netherlands. During this discussion we were able to talk about anything we wanted to regarding how Pompe effects our lives. It was a wonderful opportunity to hear other people’s perspectives on how they deal with this disease. Doctors also remained present and were interested to hear the patients’ views.
Last week the OZ and I went to a rib joint for tea and look what we discovered! Of course we just had to have him! To win him we had to name 5 body parts above the neck with 3 letters. We could only come up with 3 off the top of our heads and under time pressure. But “Magic Mike” gave him to us anyway! And no I’m not telling you what the 5 are, you work it out. There are also 5 below the neck, and no I’m not telling you what they are either. Actually there are 7, but 2 are rude and you don’t get any bonus points for those!
Thinking about body parts, I got my nose pierced! If you’re thinking about doing that, and think it will be painless, think again! I got a little tiny pink bling stud in the side of my nose. Donations were being made to breast cancer awarenes. I thought it was a great cause as my Mum and my Mother-in-law both died of that terrible disease. I bet they heard me swear from up there in Heaven too! Sorry ladies!
Critter of the week
These guys are EVERYWHERE! They're very cute too. Now that the weather is cooling off they aren't quite as prolific.
A long, slender, brown lizard, males reach 20 cm (8 in) long, females are smaller. Males have yellowish spots on the back, a ridge down the center of its back, and an orange to pale-yellow, white-edged dewlap or throat flap.
Brown anoles were introduced to Florida from Cuban and the Bahamas and are now found throughout the state. They thrive in disturbed habitats, among ornamental plants and are common around buildings. Where brown anoles coexist with the native green anoles, you will usually see the brown anoles on the ground and the green anoles on the upper trunk and in the canopy of trees.
Green anoles are medium-sized lizards with long tails. They are the only anole native to the US. Sometimes called chameleons because of their color-changing ability, they can be anywhere from emerald green to brown or gray. When stressed, they turn dark brown. Males have a pink or red extendable dewlap or throat fan. Males often engage in lateral displays that includes head bobbing and pushups. The toes have adhesive pads on the undersides.
Green anoles are easily tamed and are common in the pet trade. They are active during the day, often around human habituation, and regularly bask head down on tree trunks, fence posts, decks or walls.
This Tuesday marks my half way point in the clinical trial. I will go to the hospital at 8am, do all of the testing including MRI, muscle strength, pulmonary function test, 6 minute walk test. After all of that I will get my infusion and stay overnight for testing.
I just can't believe how fast my time here is going.
I have had no bad side effects at all. Although I feel like I'm getting a lot shorter. It could just be my imagination.
Zoooooooom there goes another week!
This is the last blog on Texas apart from a little more in depth stuff about the conference itself in the next one.
We were treated to an afternoon at Sea World in San Antonio by the sponsors of the conference. My absolute favourite part was seeing Shamu and the other orcas. I’ve always wanted to see a killer whale, and finally I have. They are beautiful! They are large, but very agile. I know some people don’t particularly like to see these animals kept in captivity, and I’m probably more along those lines too, but, hypocritically, I have to say I totally enjoyed the show and the opportunity to see such beautiful animals. If you’re sitting down the front (which I wasn’t) to watch the show, be prepared to get totally soaked because that is what is known as the “splash zone”. The whales come along with their tales slapping the water to get you wet on purpose. It’s hilariously funny and extremely well executed! My favourite part of the show was at the end when Shamu came out of the water and did a summersault. Amazing!
Russ the bear is in the photo above, can you see him?
Here’s something I didn’t know; Shamu was the fourth killer whale (orca) ever captured (the second female) and was the third orca ever displayed in a public exhibit. She was the first orca to survive more than 13 months in captivity and was the star of a very popular killer whale show at SeaWorld San Diego in the mid - late 1960s. After her death in 1971, the name Shamu continued to be used in SeaWorld "Shamu" orca shows for different killer whales in different SeaWorld parks.
I thought there was just one Shamu!
On Friday evening, after looking around Sea World, we all attended the welcome dinner there for the conference attendees. It was a great opportunity to meet the rest of the people in a fun environment. The dinner was lovely. On the way in we were given a raffle ticket each. During the night I won a lovely glass ornament with a jellyfish (fake one) inside it which glows in the dark. It’s pretty cool.
Since we had been at Sea World all afternoon we didn’t have the opportunity to smarten ourselves up and a lot of people were arriving that were looking pretty swish! So I bought a flamingo headpiece to wear to the dinner as you do. There were many comments, all complimentary (I think). I think they may have been a little envious! You decide!
I’d also like to include a mention of how accessible different places are for those of us on a mobility scooter or in a wheelchair. There is no way I could have walked and seen everything at Sea World if I was not on Road Runner. We packed in a few miles! When you go on the rides you get to go through side gates and get in ahead of the crowd, you don’t have to line up, and if you cannot take your scooter or chair on the rides they do all they can to help you on board to specially accessible seats.
I also found the same of the airlines. You can take your wheels right up to the airplane door, then someone will stow them for you and meet you at the airplane door when you land if you wish. There will also be someone who will show you the way to your next gate and help you with your bags. I was lucky to have Brad to help me a lot too. It would be a little more intimidating going alone, but you really just need to tell them at the gate what your needs are and they go out of their way to help you. I was very very impressed! Particularly with Air New Zealand and Delta!
Last week I started using walking poles for exercise, to increase my core strength and improve my balance. I’ve been working with some physiotherapists who are doing therapy not only for Pompe but for other types of disorders which do similar things to your body. The comment was made today that my walking is improving and my posture is much better. It's hard work though I can tell you! Having to actually think about how you walk rather than it just coming naturally to you like "normal" people, is very hard. But hopefully sooner rather than later it will start to become second nature again. I'm also doing strength training for my breathing with a special little device I have to breathe in and out of. PLUS pilates exercises!
The physiotherapists, Jenna, Laura and Barb, are also the ones instrumental in getting the exercise video organised for handing out to Pompe patients. There has been a meeting already with the videographer and things are moving along nicely on that project. Stay tuned! Olivia Newton John will have nothing on us! Can you still get leg warmers? I used to have some pink ones, but I think I left them somewhere back in the 1980s.
Halloween has been and gone, and now all of the Christmas stuff is flooding into the stores. There's only 5 and a half weeks of school term left, then Christmas and then I get to see my little boys! Can't wait! The countdown is on :)
The Gators won today!