Solving the Puzzle

Solving the Puzzle in Boston

America 2014 update

Sorry for taking so long to get a post up. We have had a great and very busy time so far. We also have had some news I’ve had to come to grips with, and has been hard to write about.

We had a couple of days in San Francisco, resting with a little bit of sightseeing. We then flew overnight to Boston, where a great friend, Barbara, who we met at camp last time, who is volunteer, picked us up and drove us to Maine, to the medical conference and camp.
We had a great time at camp sunshine that week. We have learnt so much more from the doctors at this conference about DC, and the progress they have made in research since the last time we were here.
Also met lots more families and made many more connections. This time there was more families from around the world as well as us from N.Z. We now know Americans ,Canadians , Australians and families from Denmark, Netherlands and Ireland. It is such a blessing meeting all these families in similar situations. There we discovered that the FDA has approved two new drugs for Pulmonary Fibrosis.

Our next stop was the NIH in Washington DC. This time we had 2 full on days from 5am starts to 7pm in the evenings. More very thorough tests, including blood tests, mri’s, bone marrow biopsy, ct scans, ultrasounds and seen by a lot of specialists.
Unfortunately I did not have such a good outcome with my lung investigations. We are hoping there is some sort of infection causing this. My oxygen saturations dropped to 88 % on the walking test, suggesting that I really need oxygen when walking around if the Dr’s don’t work out what is causing this.
I started antibiotics and Drs have added a different medicine for the lungs. We had to change going to NY on our morning train, as they wanted to do more tests for my breathing.

We then took the later train to New York City for a couple of days. We had the wonderful opportunity to spend time with the Cornelius family we met through DCO. We went to Intrepid, The Lion King and then to Jersey Boys with Skip and Nancy. We had great time with them.

We then had to travel to Boston a day earlier to see more specialists at Boston Children’s hospital, where they gave their opinions on my results from the NIH. They also agreed that I needed to be on oxygen when I exercised. They showed us how much the lungs have deteriorated on the ct scan over the last two years. If I feel at all like I need oxygen on the plane I must ask for it. I also have to get an oxygen metre to measure my sats regularly so I know when they have dropped below 90. Also I will need to go into hospital when we get home and have sleep measured oxygen sats so they can make sure it’s not dropping while sleeping and affecting the heart. Aaron had this in Starship a few years ago after they worried about six minute walk tests with him. His sleeping oxygen levels were fine, so hopefully mine will be the same.

During this time we also stayed with Barbara again, and got to do some lovely sightseeing and shopping. I also got a oxygen sats meter and used it when we walked along the beach, my oxygen levels dropped to 89% for a short time but then rose to around 93% for most of the walk.

America Trip 2014

Hi everyone

We have the opportunity to go back to America again this year, for the two yearly medical check up that the doctors over there have advised. This is made possible from all of your donations last time, as we only spent the funding money on the medical side of the trip. We have enough funds left over for mine and Vanessa’s travel and medical costs etc for this trip. Also there may enough for one more medical trip or / and more medical expenses.

Mum and dad wanted to go to the medical conference in Maine again this time. We also thought it would be good for us all to go to support each other for the whole trip. They are covering all the costs for their trip, themselves.

We go on the 10th of October for 3 and a half weeks. We are flying into San Francisco, then onto Maine for the Camp Sunshine medical conference. From there we go to Washington DC and the NIH Hospital. Next we go up through New York to Boston and Boston Children’s Hospital. Lastly we go back to the other coast to Los Angeles and from there fly back to New Zealand.

The Weta items donated two years ago are up for grabs. These will be posted up on TradeMe, so feel free to take a look and bid if you’d like. If these items do not reach the reserve price, they are going to be raffled.

The blog will be added to, while we are in America, like last time, so keep an eye out for updates.

Thank you very much for all your contributions, support and words of encouragement.

Cheers

Tony and Vanessa

Australia DC talk

Hi everyone

My mum has been to Sydney Australia for last the 48 hours to a short telomere conference.They had top medical specialists from around the world talking about telomeres and DC. There was a couple of doctors from America that I have met there too. Both mum and I were asked to go, but I decided that I would stay this time as I didn’t want to take any more time off work with been to hospital early this year. I said that my mum had to go anyway. She was just going over to Sydney to go to the conference, and then she was asked if she would speak about DC and DC Outreach.

This is the organisation that she is on the board for. The organisations core mission is to provide support to patients and families affected by DC. The outreach support also takes the form of connecting families with expert medical advice. Also DCO aims to put patients in touch with Drs who have familiarity with treatment as well as having online resources on their web page. DCO fosters a sense of community to a geographical diverse population through Facebook, bi-monthly meetings family chats, newsletters and Bi-annual family retreat at Camp Sunshine.

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Wedding and update

Hi everyone the wedding went off with out any problems. We had a great day and managed to get everything sorted before the big day. Here are some photos of our day http://www.tonyandvanessa.com/wedding-photos/.

wedding

After the wedding we had our honeymoon and then we moved up to Wellington to live and life was going good. I was having trouble trouble swallowing some of my pills and mum said about this to one of the doctors on one the DC outreach chats and the doctor said that scaring of throat is part of DC. So one of  my nelson doctors had talked to the gastro team in Wellington and they had organised for me to have a throat scan on Wednesday the  9th of April. But the week before the scan I ended up in A & E and then the hospital for a few nights with a bad sinus infection. I just wanted to check out wellington hospital :-) haha. I was dizzy when ever I stood or sat up and felt a bit nauseous. I was put on antibiotics for a few days and I seemed to get better but then had to go on a longer stronger dose as it moved to my chest.

I went and saw the gastro team and they did endoscopy and found that there was some webbing forming in my throat. They disintegrated it and said that the rest of my throat was good and that the webbing may have been causing the problems and to see how I go. I seem to be able to swallow my pills better and haven’t noticed any more swallowing problems.

I have been seeing a dietician and she put me on ensure drinks which I don’t like the best but they are better than some of the other supplement drinks I have had. I have been trying to have one everyday but sometimes it is every second day. The doctors and dietician have said it would be healthy for me to put on a little bit more weight and so when I am sick I have some reserve too, as I have the tendency of dropping when I am sick. The Ensure is working as when I was in hospital last time and with sinus infection and then a chest infection I didn’t drop much weight and have put on a bit of weight lately.

My work has been going well and have been enjoying it. I have been able to do a few more hours lately but still have been taking it easy as not to over do it.

Have Facebook comments going now :-)

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.