My NIH Experience
by Jenny Langley
On the 1st of November 2009 I set off for an adventure of a lifetime. I was travelling thousands of miles around the world to go to the National Institutes of Health to participate in the WAGR Syndrome Study. I was excited about this trip for many, many reasons. One of them being that I’d never even left Europe before. Another was that no medical expert had ever looked at me as a whole person before; I’d always been to an Ophthalmologist who looked at my eyes and nothing else or the nephrologist who looked at my kidneys but nothing else. So I was looking forward to having lots of different tests to find out exactly how WAGR Syndrome affected me. Also over the years many parents on the listserv have asked me “Are you SURE you have WAGR Syndrome? You don’t appear to have any learning difficulties or mental retardation at all” So I wanted, if possible, to see if there was any
explanation as to why I have WAGR but not the ‘R’ part. I wanted to take part in the WAGR study so that I could give parents and other individuals with WAGR hope for the future.
I think mostly I just had the usual anxieties that travelling to a new country brings - “how will
I cope with such a long flight (8 hours)? What will the food be like, or more importantly what
will the tea be like? Should we take our own teabags? What will the place we are going to stay be like? Will there be a hair dryer? How will we get around the hospital? Will we have enough time in our schedule for tourist outings? Will we manage to fit in a visit with Shari and
Amy? What will the public transport be like? How different will America be in general to the
UK? Specific questions about the study were ‘What will they find? Will they tell me I don’t
have WAGR syndrome after all? Will I be any help to the study - will my results be interesting
enough’ to Dr Han? What will Dr. Han and Shannon be like? What tests will be done on me and will any be painful or uncomfortable? What happens next after all these tests are done? Will my doctors at home listen to me when I repeat the findings to them?
The trip didn’t start off too well, we nearly missed the plane, due to our coach driver not turning up and getting to the airport with less than 15 minutes before check in closed! The trip didn’t end too well either, we had to extend our visit and change our flights home due to some test results that warranted further investigation. But the bits in between were AMAZING, FANTASTIC and INCREDIBLE!
Dr. Han and Shannon were so lovely, they couldn’t wait to meet me and introduce themselves. When they walked in the room, a nurse was busy taking my vitals, and my mum said Dr. Han practically had to hold herself back from talking to me as she was so excited! Over the two weeks that I was there, Shannon came to many of the tests with me and her encouragement and support was very much appreciated. I also loved meeting all the
doctors and specialists, who were all lovely too.
Some highlights:
Doing the whole tourist thing and visiting the White House. My mum and I were especially interested in seeing the space module that Neil Armstrong went to the moon in, at the Air and Space museum. It was incredible to think that thing in front of us had actually gone up to space and back! Meeting Amy and her mum Shari - we had such a wonderful time with them.
The Cheesecake Factory restaurant that Shari and Amy took us to was incredible; I don’t think we have anything like that in the UK. Plus the chocolate milkshake I had was huge!!
Having Amy tell me what tests I should expect to have and offering me encouragement - “Don’t worry about the MRI, it’s not scary and you can leave your own clothes on if you
want!” - Thanks Amy. The fact that Dr. Brooks - the NIH ophthalmologist said the exact same things as my consultant back home had said for many years - very reassuring.
The Family Lodge was a lovely place - very homey and welcoming. We enjoyed the ability to email my dad and sisters back at home and update them on everything. It was interesting to compare the differences between what facilities there are for visually impaired people in the US and UK. I particularly found it interesting that crossing the road on my own was a lot more difficult in the US than back at home. I was amazed though at the lifts (elevators) in the Family Lodge – they bleeped a number of times depending on what floor you were on. So for
example on the third floor it would beep three times. We do have talking lifts at home, but not ones that beep like that, which I prefer. I would have liked to be able to use the computers at the Family Lodge and the NIH but they had no software installed for visually impaired patients.
Funny moments:
Learning all the different words used in the US compared to those we use in the UK. A few times these differences made me laugh: The woman booking us in loved our British accents and said “Can I have your cell phone number” We explained that in the UK we call it a ‘mobile’. She thought this was great and said she was going to ask everyone for their mobile number from then on all day, just to see their reactions. We saw her again a few days later and she said she’d tried it on her daughter, who actually knew what a mobile was. A nurse asked me if I needed help with my snaps. I said “Snaps?? What are they?” So she put my hand on one to show me - I said “Ooh we call those poppers!” Amy was talking to my mum and mentioned something about her ‘bangs’, my mum was totally stumped, but I knew what she meant - her fringe! Another nurse asked me to spell out the name of one of my eye drops; I said “A z o p t”. Then he just stood laughing at me! When I asked what was so funny he said - “You just said ‘zed’, it was so cute, we say ‘zee’ here!” The MRI guy told me to take all my clothes off, I said “Even my knickers?” He stood there in silence for a bit then said “undies, yes keep those on”. Later he said, “Where are you from?” and when I said “England, he said, “Oh I should have guessed that when you said knickers, I’ve only ever heard that word used on TV!”
Other funny moments included me and Shannon wrestling with many stupid gowns and trying to figure out how to put them on! Doing the smell test was pretty funny - being from the UK we didn’t know what some of the options were and had no clue what they were meant to smell like - for example root beer and pumpkin pie. Some of the questions that the neuropsych team asked me were pretty funny too - “Who was president at the time of the Civil War?” my reply - “I don’t have a clue but I can tell you who the Prime Minister was during the 2nd World War”. Another funny question I still don’t know the answer to was “What is the similarity between a crown and a badge?” Answers on a postcard please!
Getting on a bus was quite funny and embarrassing. In the UK, you get on the bus and pay the driver and they in turn give you a ticket. So we got on the bus to go to the mall to do some shopping and expected it to be a similar thing. The driver must have thought we were stupid, ignorant British tourists - there was a queue behind us so they just waved us straight onto the bus. We didn’t realise you had to put a special token into a machine!
The MRI lasted an awfully long time. I wish I’d asked for music. I dozed on the first one but then on the second the guy said I had to try and stay awake because I needed to breathe in and out.
Results:
What I learnt about myself:
The geneticist confirmed I do indeed have WAGR Syndrome. I have decreased temperature sensitivity in my fingers and toes – possibly attributed to chemo side affects. That explains why I can stick my hands in a boiling hot bowl of washing up water and come out of the shower bright red, not realizing how hot I’d had it! I have more birthmarks than the average person. I have abnormal and smaller than normal teeth and some missing teeth. I have the early stages of FSGS, Dr. Han has suspected this for years but my neph at home had not started me on medication. So Dr. Han started me on an ACE inhibitor. I am severely low in
Vitamin D and now have to take Vitamin D and calcium tablets. I also have mild scoliosis and a bone abnormally at the top of my spine. I have a poor verbal memory and am not able to clearly define words. I have a small pineal gland and may need to use melatonin to help me
sleep better. I have mild audio processing difficulties and hip girdle weakness. My ovaries are fine, one was hiding but they eventually found it and I have a benign tumor in my
breast.
Tests:
Here are some of the tests I found fun or enjoyed taking part in:
The neuropsych testing session was fun, I think they took full advantage of ‘how super brainy’ I am, because we easily went over the four hours scheduled and had an extra session that lasted another two and a half hours! I enjoyed doing the various tests.
I enjoyed audiology, but they worked me very hard, I had to listen to several things and
repeat them back. Sometimes I had one number in one ear and at the same time I had another number in the other ear, I had to say the number I heard in my right ear first and then the number I’d heard in my left ear after that. It was hard, especially when it got to double figures! I also didn’t do very well with the length and pitch recognition tests, at one point the examiner said to me “Try harder”. So I was a bit peeved at that! The hot and cold test was good fun; I had to put my hand in a bucket of cold water. Shannon said I lasted twice as long as she had.
Not a test as such, but I really learnt a lot from Dr. Kopp, the kidney specialist. He showed
me some pictures and explained all about FSGS in great detail and at what point they
thought I was at. I felt he treated me like a proper adult. The only bad thing about his talk, was that my mum wasn’t there at the time, so she missed it.
The tests I didn’t like:
The nerve conduction test was painful! I felt self conscious with the ‘food party’/lunch buffet
test. I think Shannon expected me to delve in and help myself but with buffets I like to be not
just told what is available but to be helped too. I asked Shannon to help me put stuff on my plate
So was it worth it?
Well there were many times when I thought: Why am I doing this? Like when both my mum and I felt very rough on the airplane going there. But overall it was an amazing experience
and I learnt so much from it. I am so glad I went. It has helped to answer many questions, but unavoidably it’s left me with many more I know this isn’t study related, but if I’d never
gone to the NIH I’d never have know about the breast lump I have - and it’s certainly a good thing that they found it because now we know it needs close monitoring. Same with the
FSGS, I am extremely thankful to Dr. Han for actually taking action and starting me on medication because I’ve had protein in my urine and slightly high blood pressures for several
years now. Dr. Han felt so passionately that I needed treatment that she started it herself and told me not to worry about telling my consultant at home, they would deal with that too. What I also liked was the fact that if there was any concern over any of the test results, another appointment was set up to investigate further. One time this happened was with physiotherapy, they assessed me and then decided they would like to order some further x-rays to find out more. The help and support from Dr. Han and her team of amazing doctors
didn’t stop at the end of my visit. After I got home, I found I could email Dr. Han about any concerns I had after an appointment for example. I emailed doctor has said - almost like getting a second opinion. Recently when I told Dr. Han I was possibly having a cataract operation, she went straight to Dr. Brooks for advice - without me even asking.
Your won’t regret going to the NIH, it’s an amazing place, with amazing doctors and specialists. It’s like a totally different world or planet, where everything is about ‘your child’
or in my case ‘me’. Nothing was too difficult to arrange, nothing was too much trouble. At one point, they lost my eye drops…their attitude was, we were the ones who lost them so we’ll do everything we can to find them or replace them. They were still looking for them around 8pm and were even considering going to the Navy hospital to see if they could replace the missing drops.
I have a pair of blue fluffy PJ’s that I brought from Macy’s on my very last night in America. I wear them now and remember what an incredible adventure it was.
For more information on how you can participate in the WAGR Syndrome study at the NIH please contact:
Dr. Joan Han (301) 435-7820
hanjo@mail.nih.gov
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