Who could resist free trips to New York City while helping kids at the same time?

Hello from Anne OConnor-Smith in Florida!  I would like you all to be aware that Genzyme Corporation is currently recruiting adults with Niemann-Pick Type B to participate in a single dose study of lab-created enzyme rhASM to be administered at Mt. Sinai Hospital in New York City.  This study needs 15 patients but only has 9 signed up so far and so the study is now accepting patients from the UK and Germany. For further information, please contact Genzyme Medical Information or Jackie Imrie on 0161 922 2414 (email jackie.imrie@cmmc.nhe.uk).  Two links describing the study are listed below:

http://www.nnpdf.org/npresearch_11.html
http://www.clinicaltrials.gov/ct/show/NCT00410566?order=1

At age 41, I was patient #6 in this study and I want to impress upon others the importance of volunteering for this study.  Upon successful completion of this study, a second study is planned that will accept children and will administer multiple doses of the enzyme that could be approved as treatment for NPD-B.   Genzyme has prior experience with enzyme replacement as their company researched, produced, and had approved an enzyme currently given intravenously every two weeks for patients with Gaucher’s disease that can dramatically decrease liver and spleen size, reduce skeletal abnormalities, and reverse other manifestations.  Two related links are listed below:

http://en.wikipedia.org/wiki/Gaucher%27s_disease
http://en.wikipedia.org/wiki/Imiglucerase

The study requires 4 visits to Mt. Sinai Hospital which is in downtown New York City directly across from Central Park and within walking distance of several museums.  Genzyme pays the airfare for the patient and for some visits, also pays airfare for a companion. The hospital is a short subway ride away from Broadway musicals, Times Square, and many other attractions.  Except for the infusion visit, I was able to leave the hospital on some evenings to explore New York.  On one visit, I took a longer ride and saw the Statue of Liberty and the New York Stock Exchange.  Several delis and restaurants are within walking distance and my favourites are:
http://www.onefishtwofish.com/
http://www.seattlecafe.com/   Upper East Side location, 1411 Madison Ave @ 98th St.

The first visit is the baseline visit and lasts about three days.  During this visit, several tests are taken to determine if the patient qualifies for the study.  A scan is used to accurately measure spleen and liver size and tests are run to determine lung function.  A skin and a liver biopsy are performed on the last day.   I didn’t think that I would qualify for the study because I didn’t think my spleen was at least 2 times normal size since no doctor during my adult lifetime has felt an enlarged spleen.  Scans provide more information and I found out that my spleen is 8.5 times normal size and my liver is about 1.2 times normal.  I had no liver cirrhosis so I qualified for the study.

It can take a week to get all the test results back and once qualified for the study, the patient has some time to decide when to come back for the infusion.  During the infusion visit the patient stays at the hospital and starts out in the cardiac care unit.  The first night the patient is monitored to determine their normal heart rhythms and then the infusion is given in the morning.  The cardiac care unit was noisy so I would recommend ear plugs.  The patient is on a monitor but there is a small toilet and sink so the patient can get out of bed for that.  Except for the needle insertion, the enzyme infusion is painless.   Nurses and doctors closely monitored me and I didn’t have any ill effects.  I had brought books, there was a TV in the room, and my mother was there to talk to.  They did take a lot of blood samples during that day.  Later I was given a portable monitor and I was able to go back to the research center hospital room.

The third visit must occur 14 days (+-2 days) after the infusion so the schedule needs to be worked out carefully in advance.  I told my supervisor about the study and he was flexible with my time off.  I took sick time and also made up some of the time by working extra hours.  On the third visit, the same tests taken during the baseline visit are repeated.  I asked for a light sedative the second time before the liver biopsy as I had some associated nerve pain after the first biopsy that caused pain in my chest and right arm.  The first liver biopsy actually hurt for a few days but the second biopsy did not cause any pain afterwards.

The final visit must occur 28 days (+- 2 days) after the infusion, it is the shortest visit and only includes a blood draw and a physical exam.  My final visit was September 4, 2007 and no problems were found.  I have been feeling fine after the study and I have since been on two 61 mile bikes rides, two 31 mile bike rides, two 8 mile runs and one 10 mile run.  Read on if you want to know more about my history and why this type of exercise is not unusual for me.

To introduce myself, I am a healthy 41 year-old female athlete, I work full-time, I have obtained a master’s degree, I have three children, three step-children, and a step-grandchild.  I have completed six marathons, 17 triathlons, earned various belts in Aikido, and received awards in running and Kung Fu events.  I am training for the MiamiMan half ironman triathlon in November 2006 (race info at http://www.multirace.com/MiamiMan/).

My medical background might help explain why such a healthy woman would be included in a NPD study.  As a child living in Louisiana, I had been complaining of stomach ache and having trouble sitting in school because of the pain. My paediatrician noticed that my spleen was enlarged and he referred my family to specialists in Texas.  At the age of 11, I was diagnosed with NPD Type B and sea-blue histiocytes at Texas Children's Hospital. I was told I was about to die as the doctors mistakenly thought I had Leukemia and later thought I had NPD Type C. When they realized I had NPD Type B, they said they did not know what would happen to me.  My younger sister, Margo, also has Type B and my brother, Ryan, is a carrier. We have reduced ASM levels but have been very healthy all our lives, with only minor issues, and we did not continue to be monitored for the disease.  The hospital offered to examine us annually for free but after a week long barrage of tests and the trauma of misdiagnosis, I refused to go back!

Unfortunately, I had it in my head that I was dying for years after being misdiagnosed.  I had to drop out of gymnastics because I was not allowed to use the parallel bars and I had a note for gym class that I could not be involved in contact sports. However, I continued to be very active since we lived in the country, we had a little dog who loved to run outside, and we had our own large swimming pool.  Some doctors wanted to remove my spleen as they feared it would rupture but they also said that once I started growing there might be more room for it. My parents did not let them remove it and I am happy about that since I have heard that people with NPD-B without a spleen can have more severe lung complications.

In my adult life, I decided I was healthier than most people my age and that I should focus on living and stop worrying so much about dying.  I did not discuss the disease even with doctors.  Every time I went for my annual physical and the doctor would feel my abdomen, I would worry that they would find that my spleen was still enlarged but they never commented so I assumed it was normal size. At age 33, I started martial arts as I assumed there was no longer any issue with my participating in contact sports.  I have since told my instructors that I can no longer participate in sparring or throws but I continue to work individually on my forms.

Before my sister had her first baby, her husband went through genetic testing and she tried to get me more interested in finding out more about NPD-B but I still did not want to think about it.  Then in February 2007, I started researching NPD online and I joined the typeb-nnpdf Yahoo group.   After reading about others who have worse symptoms than me, reading about the clinical trail, seeing the pictures of the first volunteer, Brice age 22, and reading about the third volunteer, Kevin (Brice’s brother) age 19, I decided I should volunteer. 

Through specialized testing at Mt. Sinai, I found out that I have a spleen size 8.5 times normal, liver size 1.2 times normal, and cholesterol build up in my heart, lungs and gallbladder.  However, my lung functioning is normal.  My other symptoms include weakness and fatigue due to anemia, easy bruising, joint pain, thinning bones, repeated respiratory infections, intolerance of cold temperatures, and reduced coordination.  Overall I am blessed with enough health to continue as an athlete.

Now I am trying to get the word out for more study volunteers.  Please spread the word.  I looked at my medical records from 30 years ago and the doctors mentioned that enzyme replacement therapy was experimental.  How sad it is that is has taken that long to finally arrive at human studies for the enzyme rhASM for NPD-B patients.  So many parents have been praying through the years for a treatment and we are now on the brink, but we need adults with NPD-B to step forward and volunteer for this study so we can move closer to an approved treatment for NPD-B.  For further information, please contact Genzyme Medical Information Information or Jackie Imrie on 0161 922 2414 (email jackie.imrie@cmmc.nhe.uk).

If anyone wants to contact me directly, feel free to email me at healthnutgirl@hotmail.com.