Sunday blog update

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.

Newborn screening

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.

Meep Meep

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.

Brown Anole

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 Anole

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.

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