Solving the Puzzle

Solving the Puzzle in 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.

About the NIH

Tony will be participating in a study of dyskeratosis congenita funded by America’s National Institutes of Health. The NIH funds more than 30 Billion dollars of medical research a year, making it the largest source of funding for medical research in the world.  300,000 researchers around the planet are funded by the NIH. Because of NIH research, we have vaccines protecting people from flu, shingles and meningitis. Because of NIH research, survival from the most common childhood leukemia is now 90 percent. Because of NIH research, effective medicines and lifestyle changes have slashed rates of heart disease and stroke.  Scientists funded by the NIH have discovered breakthroughs in AIDS treatment, the development of artificial skin for burn survivors, sequencing of the human genome, medicines to block mother to child HIV transmission,  effective therapies to treat depression and more.  Even the development of home pregnancy tests was funded by the NIH.   The NIH is in Bethesda, Maryland, just outside of Washington, D.C. Its huge campus is home to 6000 scientists who work in the NIH labs.

Tony will be working with the IBMFS research group of rare genetic blood disorders. With DC the blood problems include: Anemia, Leukopenia and Thrombocytopenia .People with an IBMFS also have a very high risk of developing a preleukemic condition called myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), or solid tumors. They are studying the types, patterns, and causes of development of cancer in families with an IBMFS. The overall goal is to better describe these disorders and their genetic causes, and to understand the relationship between clinical, genetic and laboratory findings, and the development of leukemia and solid tumors. These advances will improve health care for patients with these conditions. You can view more detailed information about this clinical research project at the study Web site:


We had a great flight from San Francisco to Washington DC on Sunday the October. Then we got on a shuttle to the NIH to check in and get our passes for Monday. All our bags had to be checked at security and had to go through a xray scanner.

Monday 1st October: Day 1 at the NIH

On Monday we had to be at the NIH at 7.30am, we took a taxi as the shuttle wouldn’t be there till after then. That was a bad idea as the taxi driver drove us around for an hour before we made it to the security area. We ended up in the navy security area a couple times and we kept saying we had already been here. The NIH is only about 10 minutes from the hotel. In the end we had to direct him from what the navy security had tried to tell him as he didn’t seem to understand English or the directions. After we had made it through security at the NIH. He got directions to building 10 where we needed to go but he couldn’t make it there without us having to direct him.

Once we made it there we got our height, weight, blood pressure and obs done before going to meet the main doctors. We had a meeting with them and signed more paper work. Then it was off to our appointments for the day, Dad, Mum and me all had different appointments in different places and different times.
The appointments for me were a history & physical, Dysmorphology, ENT& head/neck, Dermatology, Bone Density – DEXA and Pulmonology.

Tuesday 2nd October: Day 2 at the NIH
On Tuesday we all had to all fast until we had blood tests done. There was a delay with my test being done as some of the doctors that I seen yesterday had added blood to be taken too. So the order was too much blood to be done at one time. They sorted it out and I had to have some of the blood taken the next day when they did my bone marrow biopsy. The the day went ok.
The appointments for me were starting at 7 am with Phlebotomy, Nitrous Oxide test, Ophthalmology, Anesthesia consult, Rehab / Physiatry and MRI head.

Wednesday 3rd October: Day 3 at the NIH
I went in about 8.30am for my biopsy and they took the blood then gave me a drug and that was the last thing I remember till I woke up in recovery. In Nelson when they did the biopsy they only did sedation, so I was awake for it. I didn’t need any pain killers for it other than what they gave me when they did it.
Then I had a few more appointments in the afternoon.
The appointments for me were Bone Marrow biopsy, Dental, Echo and Endocrine.

Thursday 4th October: Day 4 at the NIH
This was the main day that I had most of my scans. They did a X-ray of my hold body which was many X-rays.
The appointments for me were MRI of Liver Spleen, Ultrasound Abdominal, Genetic education & counseling, Audiology, ENT education, Doppler Ultrasound, Skeletal Survey and Psychiatry.

Friday 5th October: Day 5 at the NIH (final day)
We had a meeting with the doctor’s in the morning to finish up the week and get our results. Then we still had appointments till the afternoon. They said the rest of the results will be sent to us.The appointments for me were CT Head & Neck, wrap up session, Pulmonary function test and photography.


Here is some info about the NIH

Rest of San Francisco

Sorry for the late post have had a really busy the last couple of weeks.

On Monday we went to a big target store and then to a local Alameda shoe shop.

On Tuesday we went on the cable cars around San Francisco and then to fisherman’s wharf and on the way to the golden gate bridge we saw the America’s cup boats and the team NZ one. There are some photos in the Facebook link below.

One Wednesday we tried to go to computer history museum but didn’t make it there in time so stopped at the station before and had a look around. We took the ferry from Alameda to San Francisco city and the got the train to go to down there.

On Thursday we went to Alcatraz which was great and had a good time. Check out the Facebook below for photos.

On Friday we got to go to on the New bay bridge that is being built in San Francisco.
We also got to go to the computer history museum on Friday the of September in Mountain View. We took the trains to get there. Here is the photos.

Here are some photos of our time in San Francisco .
You don’t have to be on Facebook to view the photos.

Next blogg will be of the week in Washington DC.

San Francisco day 1 & 2

We left Nelson and Auckland on saturday the 22 and had a great sendoff from both airports by friends and family. We left NZ at 7 on Saturday night and arrived on Saturday in San Francisco at 12pm just in time for lunch, after our 12 hour flight.
We got picked up by friends (the Cisneros family) from the airport and then we went out for lunch on the way to their place. We went to the Cheesecake Factory – Union Square for lunch, had a great meal and got some yum cheese cake to take home.



Then today I had to go and have the American flu jab and then we went to the Legion of Honor which is a fine arts museum.

Update and tickets

The last couple of weeks I have been going to hospital pool for physio. This has been helping lots with my recovery and I am down to one crutch when around home.

Don’t forget to get your raffle tickets for the trip for two to Australia before they close this Thursday the 30th.

Travel up date.

Since we have been on Campbell Live and the DC support group in America put the link on their website a lot more doors have opened. Me and the whole family have also been accepted for a bone marrow research study at the NIH in Washington DC also now. They are now working in close contact with the Boston team.

We have booked the tickets from Nelson to San Francisco and back from LA. We are in the process of sorting our travel from San Francisco to Washington DC NIH Hospital, Boston Hospital and Harvard medical school.

Coming soon will be a schedule of where and when we are to going places in America.

If you want to come and say goodbye, then you can on Saturday the 22 September at 1.50pm from Nelson and will be at Auckland airport at 3.40pm.

Raffle and update

Air New Zealand Raffle

We have an Air New Zealand raffle going on at the moment until the end of August. It is for return flights for two to Australia. Tickets are available from Barbara (03) 5481103

Air NZ raffle

Air NZ raffle


Hip replacement update

Came home on Friday the 20th and have been recovering well. Went out for the first time since leaving the hospital on Saturday and then to church on Sunday.
Have an appointment to see the physio on Thursday about starting physio in the pool next week.
We are going to look at booking flights this week.