Solving the Puzzle

Solving the Puzzle in Boston

Job, Australia & Getting Married

Hi everyone my job has been extended in Wellington till September this year and hopefully will be extended for another year. So I am currently busy looking for flats/apartments in Wellington. Also some other exciting news is that I proposed to my girlfriend now my fiancé and we are getting Married on the 22 of February 2014 (so this weekend). Anyone is welcome to come to the ceremony at the Headingly Centre (Grace Church) at 2.30, please be seated by 2.15. Check out our website for more details http://www.tonyandvanessa.com/. So I have been busy with planing this.

I went home to nelson for two weeks over Christmas which was nice to see my family and better not forget my wonderful fiancé. We did some camping, ate lots of food and did some wedding planing. I also had my wisdom tooth out just before Christmas when I came back to nelson but it didn’t stop me eating.

I better say something about how I proposed bla bla.
It was when we were in Australia for Aaron’s 21. I had organised for a group of us to go to Gold Coast in Australia and do the fun park rides as we said that we would take Aaron back when he was well to do them. The first time we went he was too little to go on most of the rides and the next few times we went he wasn’t able to go either, so we told him that when he got better and had the all clear that we would go back and go on them.

So back to the engagement story. We had Vanessa’s 25 birthday in Australia as well as Aaron’s 21st, as her birthday is two days before Aaron’s. So I decided to do on 28 of November which is in between Vanessa’s and Aaron’s birthdays.

I said to Vanessa that I would like to go for a walk on the beach before we headed off to the funparks for the day as we didn’t get to spend much time together alone on her birthday. I took the camera too as I said I wanted to take some photos like some that were taken when me and Aaron were on the Gold Coast beach looking towards Surfers Paradise. Little did she know that I was I was going to propose to her then. We were walking along the beach and I told her to walk ahead slightly more and look towards Surfers to get a photo and that was when I got down on one knee with the ring in my hand. I asked her to turn around and then poped the question, she said yes!!! So there you have it the story of how I proposed to my lovely beautiful fiancé.

We had a great time with friends and family in Australia and did all the theme parks as well as lots of shopping.

As soon as the wedding is over we are going to start planning for the next medical trip to America later this year.

PS One last thing, there are items that have been generously donated by Weta and even some that have been personally signed. These are slowly being put up on eBay soon so keep an eye out for them to come up, so watch this space. 

Year since America

One year ago today we left for America for medical research. Thanks to generosity of so many of you, all the medical side of costs were covered by the money fund raised. This meant that were able to have a bit of a holiday too from our personal savings. A few people have asked since then about the fundraising. The funding committee have set up the remaining funds in a savings account for future hospital visits in America.

The specialist Dr’s in America are meeting over the next couple of weeks to review all the NZ doctors notes over the last year from when we saw them.

The long term plan is that every second year it would be ideal for the doctors in America to see me.  The American specialists will meet yearly in between to review notes written by my NZ doctors on my progress during the year, and review any regular blood tests, scans, x-rays and any other tests I have had.

Weta Digital

Weta Digital

As you may have seen I now have a new job working at Weta Digital part time as a System Administrator in Wellington. This is an exciting opportunity for me and I hope to learn lots. I have already learnt lots in my 3 weeks there.  I headed  up there on Saturday 17th of August and Vanessa came up with me  for the weekend and flew home on the Sunday night. I started work on Monday the 19th of August and the contract is only till Christmas but may be extended.

 

CanTeen Bandanna Campaign

You may also have seen me on tv, on a poster etc for CanTeen this year. I flew up to Auckland for a photo shoot and to film the add and interview the week before I went to Wellington to work at Weta Digital. You can check out the add, interview and my story at http://neveralone.co.nz/tony.

Solving a piece of the puzzle

We have had great news from the doctors at Boston Children’s Hospital that they have found the gene that causes Kartageners in Aaron and I. The gene is heatr2 gene. The particular gene we have was only discovered late last year in Pennsylvania in America.

They found it by using mine, Aaron’s, Dads and Mum’s blood in a process called exome sequencing. It is an effective alternative to whole genome sequencing. Exons are short, functionally important sequences of DNA which represent the regions in genes that are translated into protein. This is only in its early stages of been used.It is a very exciting break through for the doctors.  Check out the link for more info.

They said that it shows that mum and dad weren’t related and that it wasn’t even the same gene that they had but a combination that caused it. They also said that I have a 1 in 500,000 chance of passing it on.

 

 

 

Off the radar

Hi everyone I haven’t posted in a while must seem like I have just fallen off the radar. My life has changed a bit since coming back from America.

I now see more doctors yearly back here in NZ to do with my two conditions as recommended by doctors from the NIH and Boston’s Children’s Hospital which is good.

When we came back to Nelson I started to use my crutches less and less then only if  we were going out for the day and doing lots of walking. It was a great feeling when I handed my crutches back to the hospital.

I am back driving now which is great. It has given me my independence back and means that I don’t have to rely on mum or others to take me places.When I got back I had a goal to get my car going and licensed for the road again.  To start with I just did short trips in my mums car as it is an auto and I didn’t have to worry about the clutch with my legs. I had to retrain my foot to use the accelerator which was hard at times as it was using muscles that hadn’t been used in over a year. After I had mastered the accelerator I started driving my car again and had to get use to a clutch.  I also had to get use to the new right had turn rule.

I got an invitation to go to The Hobbit premiere and walk the red carpet. This was a amazing experience and a great honour. Here is a picture of me in my suit.

Watch this space for more posts in the near future.

Cheers

Tony

Canada, Boston, LA, Rarotonga & NZ

Canada

We went to Canada to stay with friends after we had finished at Boston Children’s Hospital. They came down and picked us up on Friday afternoon. We drove to Vermont and stopped for the night. The next day we went and saw where the Von trapp (sound of music) family had their place, on the way to Canada. We didn’t do much for the next few days when we were in Canada just had some time relaxing. Then on Thursday we drove to Niagara falls, its much better from the Canadian side than the American side. After we had visited the falls we started to drive back to Boston for our flight to LA, we stopped after about 3 hours of driving from Niagara for the night. The next day we drove the rest of the way to Boston and got there around tea time.  Here are some pictures.

Boston

We had Saturday in Boston to recover before our early flight on Sunday. We went and did some shopping in the afternoon and I got some dress shirts and a messenger bag. There was lots on TV about the storm that was coming to Boston on Monday. Our flight was early Sunday morning so that was OK  We got up at 4 am and got ready to go to the airport it just seemed like any other day at the airport although they did say your flight could be canceled with the weather. We got on the plane to LA and it was a bit bumpy as we flew over New York but then the rest of the flight was OK. We started to watch the news on TV in the plane and they were saying that everything was being shut down at 7 pm that night.

LA

We arrived in LA and had friends that we met at the DC camp come and pick us up and take us back to their place for the afternoon. We didn’t get to see much of LA but it was great catching up with them and chatting about stuff. We went to the airport around 9 pm for our flight to Rarotonga and had a good flight there.

Rarotonga

We arrive in Rarotonga at 7 am and got taken to our resort. We had our complementary breakfast and took a tour of the resort. We were staying at Sanctuary Rarotonga which was a adults only resort but was part of The Rarotonga beach resort and spa where families can stay. We couldn’t get into our room till 2 so when we did we looked at the news and saw all devastation of the storm.
We spent most of our time there just relaxing, we did go to town one day for a look and went around the whole island on the bus. We did lots of swimming and tried snorkeling and kayaking. I couldn’t do kayaking as couldn’t sit up straight in the kayak but saw lots of fish when snorkeling. Here are some pictures.

New Zealand

We left Rarotonga on Thursday afternoon and arrived in Auckland on Friday night even though it’s only around a 4 hour flight. We stayed with my cousin in Auckland for the night then flew back to Nelson the next day.

Boston

On Sunday 14th October after camp we took the train to Boston and checked in to where we were staying,Yawkey house which is a part of Boston’s children’s hospital its a bit like Ronald McDonald house and was great.

On Monday we didn’t have any hospital appointments so we went on a duck tour of Boston that some wonderful people we met in America on camp shouted us. The tour was very interesting and we learnt lots about the history of Boston. I got to drive the duck when it was on the river. Then in the afternoon we went to Quincy markets.

On Tuesday we had an appointment with Dr Agarwal the haematologist who had organised for us to see a group of doctors at Children’s Hospital Boston and also had helped with organising for us coming to America. We talked about different protocols for doing bone marrow transplants and about the possibility of me having one. He said that I would be a good candidate for one except for the fact that I don’t need one at the moment and may never need one. 80% of DC patients do need transplanting during there life.

After seeing Dr Agarwal we went to see a pulmonologist who said that My CT scan showed that I had developed pulmonary fibrosis now. That the bottom of my lungs were good but the top parts are getting worse. The doctor said that I need to see a pulmonologist regularly to monitor any progression and try to stop it. But nothing can be done about the fibrosis already there. He is going to write a letter of recommendations on what can be done to prevent further damage. He suggested a couple of things that Aaron was doing and also about getting a physio vest. I looked online and saw that the vests were around $10,000 NZ. But hopefully my medical insurance or the hospital will cover it for me.

On Wednesday after seeing a specialist Dr Agarwal also showed us around his lab were he does his research, which was fascinating to see. It was also great learning about some of the stuff he does there.

On Thursday we went to see a nephrologist who said that my kidneys are going ok at the moment with FSGS but that I need to keep an eye on them and see a nephrologist regularly. Also that it may be secondary FSGS caused by high blood pressure and not FSGS that caused my high blood pressure. Nelson hospital have sent my kidney biopsy plates to Harvard medical school from a biopsy done when I was 14 years old to see if they can get any clues to the reason for the kidney issues.
Then we went to an Orthopedic surgeon who said my hip X-rays look all good and that the surgery was a success and that I should be able to get back to normal now.

On Friday We went to see a neurologist who said the same thing as the NIH which is that they don’t think there is any thing going on neurologically with my hips and that I must have more physiotherapy for my walking and gait. If this doesn’t improve then they may have to look at the cyst on the spine but Drs will need to be keeping an eye on the cyst anyway.

At Boston they also said that my lungs are the most concerning problem at the moment. Which is good in some ways as I don’t show too many severe symptoms of DC.

Here is the link to some of the photos taken in Boston.

Camp Sunshine

We arrived in Portland Maine on Wednesday the 10th October in the afternoon, the camp picked us up from the airport and took us to the camp. We got given our room and got unpacked.
At 4.30 they had time where you could go and meet the other families with DC and some of the volunteers. They gave us tea and we had an intro to camp. There were different age groups that the kids split off into with leaders for the camp. The good thing about my age was that I could switch between the adults and the teenagers group. So I went to all talks on DC by the doctors but didn’t go the the stuff relevant for parents.

On Thursday morning we had breakfast with everybody then the kids went to their groups and the adults had some talks. The first talk was DC-101 which was on the basics of DC. The second talk for the morning was on DC Maintenance which was talking about what to look out for, what DC patients are at risk of developing and what and how to protect against things.
We need to keep an eye on their mouth for white, black spots and lumps. As we are more prone to oral and throat cancers. We also have to be very careful in sun and where a wide brim hat, where lots of sunscreen and try to stay out the sun in the worst part of the day. The skin is also affected with DC. I have to limit or no alcohol if posable and no smoking not even second hand.
Then in the afternoon the talk was on Bone Marrow Transplants Specifically in DC patients and how they are now trying to do them differently with DC patients by using less conditioning (chemo and radiation). They are discovering patients with DC don’t do as well as cancer patients when having bone marrow transplants. After the talk they had a Q & A discussion panel with the Doctors where some great questions were asked and answered. Later in the afternoon the parents were having a discussion so I went with the teens and played some games and went swimming. That night we had the Talent show and Masquerade where Paul did the haka.

On Friday morning after breakfast the talk was on Other Treatments besides Bone Marrow Transplant for DC, where antigenes and other treatments would be used. Then the talk was Advances in DC/Pluripotent stem cells. Where they may be able to use Gene therapy in the future to treat DC. Then in the afternoon I hung out with the teens and did some more swimming and other activities. I decided to have the gourmet dinner with the parents which was a great roast turkey with lots of different vegetables some of which was my first time trying. After the dinner they had karaoke so I stayed for some of that then I went to the teens.

On Saturday morning the last talk of the weekend was on Genetics and Fertility. Then we had free time till lunch and the parents had a talk about DC awareness and fundraising. Later I went swimming again with the adults and after tea they had the wish boat launch & celebration show. After that we had a game of newcomb volleyball which is played on a volleyball court where you can catch the ball instead of just hitting it back and people are eliminated if they don’t catch the ball. It was teens vs adults and us teens had played it before and it was fun to get everyone involved. To start with the teens were winning but then the adults got more people and learnt how to play so they won the last few games before the lights went out and we had to go to bed.

On Sunday morning it was time to say good by to everybody which was hard as I had made some good friends with DC families and also some of the camp helpers.

I found the time at the camp great with being able to meet others with DC besides my brother Aaron. I am really keen to go back in two years for the next camp. It was very interesting that I physically met my first ever other person with kartagener’s other than my brother. (he didn’t have DC, my brother Aaron and I are the only two ever with both). It was valuable to see people older than me who have DC and are still ok. There were parents with adult children with DC and grandchildren there too. Also to see all the different varieties and severities of DC was positive as I had seen was Aaron.

PS sorry it took so long, did it in Canada but lost it with faulty Internet.

New York

We got the Amtrack train from Washington DC to New York on Sunday the 7th October and got there about 4pm. We got picked up by the people that we were staying Skip & Nancy Cornelius with from the train stop and they took us to their place.

On Monday we went in to the city which was about an hour on the train. We had ordered a hop on hop off 48 hour bus tour the night before, so we went to get our tickets. We did the tour which took hours and decided to not get off as it was cold and looked like it was going to rain. The buses were Double Decker and had open tops. We managed to get around the tour with getting wet and had a quick look in Kmart and Maceys. Then it was time to go back to where we were staying.

On Tuesday we went in and did the boat tour which was included in our bus tour. It went right around the bottom of Manhattan and some of the way up the other side and then back. On the way back it stopped at the Statue of Liberty. Then we went and had a look at the word trade center memorial building, but ran out of time to see the actual memorial. We did get to see them building the new freedom tower.
After that we went to see the show the phantom of the opera, which was great.

On Wednesday we to Laguardia air port to fly to Portland Maine. We got held up on the runway for an hour waiting for planes to take off and land before we could go.

Here is the link for some of our photos of our time in New York.

Washington DC

Once we had finished at the NIH on Friday night we went back to the hotel and dropped off all our paperwork that we had received. Then we organised to be picked up by some friends Julian & Brenda Dobbs who used to live in Nelson but now live in DC. They took us on a tour of the sights around DC, like the white house, the pentagon etc and then we went to the Hard Rock Cafe for tea. They dropped off back off at the hotel for the night.

Then on Saturday they came and picked us up and took us back to their place where Francis Dobbs joined us. Sam Dobbs & Grace Dobbs came back from College to see us too. We went to a market that was near their place, the parents walked there and I took the dingy with the others. We spent Saturday night there and went to a church service that Julian was preaching at.

On Sunday we got a taxi to the train station so we could catch a train to New York.

Here is the link for some of our photos of our time in DC.