Welcome to America!

 

We are all in this fight together!

If you have been following my blog, you may recall some posts about Pompe patients in New Zealand and Australia being denied enzyme replacement therapy (ERT). Our friends in the southern hemisphere are fighting with their own governments to approve funding for Myozyme – the life saving treatment for Pompe patients. And, if you follow my blog, you know – the stuff works! However, the bureaucrats are not convinced. We will continue to fight for our fellow Pompe warriors in New Zealand and Australia – I’m sure there will be calls for letter writing, so keep those typing fingers in tip top shape!

Allyson: “When it comes time to book my plane ticket I will start to feel the pain of knowing I have to leave my family for such a long period of time. My little boys - Ben age 9 and Josh age 7 - get sad if I just go away overnight, so it will be very hard for them. It will be very hard for all of us. I'll miss their birthdays, their piano recitals, their sports on Saturday mornings. Having said that, this is a huge opportunity which will hopefully not only extend my lifespan, but also my quality of life. 6 months out of a lifetime isn't so much. We are a Navy family so we are used to being separated for long periods of time. But it has always been my husband who is gone, sometimes up to 8 months at a time. Sometimes I get envious of his travels - this time it is my turn! We're kind of looking at it like it is just another deployment.”

In the meantime, two of our friends are coming to America, to participate in a clinical trial of a new ERT drug from BioMarin. They will be in excellent hands because they will be Dr. Barry Byrne’s newest “lab rats” at the University of Florida. Allyson Lock from New Zealand and Brad Gibson from Australia will be touching down at Orlando International Airport as soon as all their travel documents are in order. The clinical trial is expected to last 6 months and they will undergo infusions every two weeks during that time. They are traveling half way around the world for a life saving treatment because their government won’t approve funding for it. Thank goodness for clinical trials and the welcoming arms of the University of Florida. 

Brad: “For me to move away from my life for an extended amount of time like this is very hard. My oldest boy Jesse is 12 years old and changing monthly, Daniel is 9 years old and too smart for his own good and Elissa is 6 years old going on 16 and learning ballet so whilst she has attitude she's a sweet little girl. I know the boys are going to miss me as I normally try to get to all their Rugby Union games and to some of Elissa's ballet performances when I can. My wife Ellen works as a physiotherapist and is the glue that holds us all together, but as I've been getting weaker she has had to do more, but I'm afraid with me gone she will shoulder more of the burden of running our house, looking after the kids and working on top of that. I'm hoping I can come back from America a lot better than when I go over. It’s a chance I have to take because my own country won't make the ERT treatment available, so whilst it's a tragedy that I have to leave my wife, my family, my job and my life, I don't see I have too many other choices if I'm to stay around for my family.”

It is our hope, that once their governments see how effective this treatment is on their own citizens they will reconsider funding ERT. But for now, Allyson, Brad, and their families can rejoice in the fact that they will receive the life saving treatment – even if it means spending 6 months away from home.

I couldn’t be happier they are going to get treatment and am thrilled they will be “right up the road” at the University of Florida. Guess we’ll have to make Gator fans out of them! Go Gators!

 

 

Running for Rare Diseases

 

 

The Boston Marathon runners.

Last month I had the honor of meeting with several Genzyme employees, including 11 who are running in the Boston Marathon. These spirited athletes are participating in the Running for Rare Diseases program to raise funds for NORD (National Organization for Rare Disorders). Each runner will run on behalf of a patient which will also help raise awareness as well as giving them a real connection to those fighting rare diseases.

“My” runner, Angela DeLucco. Run, Soul Sister, Run!

Please visit their website for more information. You can show your support for this incredible group Genzyme employees by making a donation or just leaving a comment to cheer them on.

Accessible Travel: Disney Cruise Line

 

Disney is an industry leader when it comes to accessible tourism, and their cruise ships are no exception.

All aboard!

In November, my father and I took a 5 day Bahamian cruise on the Disney Wonder. We didn’t want to commit to a longer cruise in case there were accessibility issues. You never know – yes, this is Disney we’re talking about, but it also a ship. The restaurants, shops, showrooms, spa, pools, even their private island are all accessible. And of course the Cast Members are more than happy to assist you in any way, including accommodating any dietary needs.

A massage on the beach at Castaway Cay = Heaven! They can fill up quickly so book ahead of time, before you leave or at the Open House.

Some areas are more accessible than others. For example, if you’d like to book a pedicure be aware that the chairs are not really accessible because they require the guest to climb up a couple of pretty big steps – without any sort of handrail. If you’d like a pedicure discuss your needs with the salon staff and they will be happy to accommodate you. If you’re looking to book spa and salon experiences, be sure to stop by the “Open House” on the first day of the cruise and check out the facilities to see what will work for you.

Just relaxing on our private balcony - can I just live here?

We were lucky enough to book an accessible stateroom – these are limited. I have friends who have cruised with Disney a few times and one of them uses the same scooter as I do, they don’t book an accessible room because they don’t need the modified facilities. They simply ask the crew to remove the coffee table so there is more room for the mobility scooter.

The ship is equipped with elevators, ramps, and wide doorways – making the ship pretty much entirely accessible. The one problem I encountered was the thresholds. Some of them came to a pretty steep peak and my scooter would get stuck, but there was always someone there to help me. After about a day or so, and a lot of bottoming out of my scooter, I learned which doorways to avoid and everything was fine.

Check out my ride! Taking in the ocean air on Castaway Cay’s adults only beach after my massage. Life it rough!

Disney’s private island, Castaway Cay is very accessible. From the disembarking process to providing free sand wheelchairs – they’ve done everything possible to ensure mobility challenged passengers can really enjoy this island. The tram that takes you from various locations on the island is accessible and everything is pretty flat making exploration easy. You may run into some trouble if you want to take on the beautiful sandy beaches, but that’s when you grab a sand wheelchair – but

I couldn’t make this stuff up!

heed the warning on the back of the chair: “Not a floatation device. Do not attempt to propel in water.” Which only means that at some point someone had a few two many Mai Tai’s and attempted that.

Please note that depending on your cruise itinerary, the ports of call may require you to tender (take a smaller boat) to shore and the accessibility of this type of transfer can vary from port to port and be dependant on weather conditions. The port in Nassau, Bahamas didn’t require a tender transfer so going ashore was pretty easy there. We even managed to flag down an accessible taxi to take us to and from the Atlantis Resort – which was very accessible too. The main shopping area of Nassau offered various levels of accessibility. There were curb cut outs on just about every corner, but the shops and restaurants were hit and miss with accessible entrances – however, most of them were wheelchair friendly.

Me and Gilligan, just kidding, that’s my dad

An added bonus…. The children are “contained” in their own little world on the ship. They are not running around the decks causing chaos and knocking over us gimpy, balance-challenged folk. Disney has designed amazing interactive areas for kids of all ages to enjoy. That coupled with the many adults only areas of the ship makes avoiding potential tripping hazards, disguised as cute little princes and princesses, easier. The easy assumption is that a Disney Cruise is taken over by kids, it is not. Other cruise lines have fewer offerings for the younger sailors and therefore they get bored and end up running all over the ship. It may sound counterintuitive, but if you want to enjoy some grown up cruising – then hop on board with Mickey! No, seriously. The fitness center, spa and salon are all adults only. There is an adults only area on the pool deck which includes a pool, hot tubs, bar, and coffee bar. There is even an adults only restaurant for a small additional fee and an adults only area on Castaway Cay. It is worth noting that the adults only restaurant was the only “up sell” I encountered, unlike other cruise lines where there are numerous ones making the phrase “all inclusive” a bit of a stretch, in my opinion.

I would highly recommend the Disney Cruise Line to anyone looking to sail the high seas.

Easy (well, easier) IVs

 

Needing an IV infusion every two weeks for life makes the subject of IVs and ports constant chatter in the Pompe world. Like most debates there are those for and against ports. On infusion days many of my Pompe friends brag about a “one stick” day or vent frustration over a “3 or more sticks” day. No one likes getting stuck with a needle, especially over and over again, which is often when the port verses no port debate arises. I come down strongly on the “no port” side as I’ve already had enough slice and dice done on my body for this blasted disease and I really don’t mind the needles – as long as I don’t have to watch. I do everything I can to prepare my body for a “one stick” day. 

If you’re having trouble with getting “stuck,” before succumbing to “port pressure,” why not give Gatorade a try? Cheers!

The best thing anyone can do is to stay hydrated, which includes not only drinking loads of water, but avoiding alcohol and caffeine. Recently I’ve started incorporating Low Calorie Gatorade into my pre-infusion ritual. I use low calorie because it contains less carbohydrates and sugar – which in my head equals less glycogen build up. I drink at least two servings the night before my infusion and two more servings the morning of. It seems to help reduce the amount of sticks because along with the electrolytes for hydration, Gatorade is loaded with sodium which helps plump up the veins.