Participating in Research Study at NIH for Urea Cycle Disorders

Note: i will add in some pictures later. My phone hasn't done a Google back up of the pictures I've taken yet.

Friday, November 8th would be our son Kyles second birthday. While being aggressively treated for Ornithine Transcarbamylase Deficiency (OTC Deficiency), a urea cycle disorder, with the hopes of having him obtaining a liver transplant, he acquired an E Coli infection at the hospital. The infection was not caught in time, and in doing the treatment for the OTC, dialysis was performed, which in turn spread the infection throughout the entire body.

Last year at this time, we had a follow up appointment at the
hospital. I'm hopeful that in my participating, new things will be learned that will help future generations.

This year, at this same time, I am at the National Institute of Health (NIH), in the United States, participating as a research subject in a study called MINI. It stands for Metabolism, Infection and Immunity in Inborn Errors of Metabolism. They had started the study with only urea cycle disorder patients, but have opened it up to all patients with inborn errors of metabolism.

Here is a link for more information on the study.

We arrived on campus on Monday night. We were booked in to stay at Safra Family Lodge while here. It is directly across the road from the clinic hospital. It acts as a Ronald McDonald House for families of adult patients. It is a very beautiful building, with 34 bedrooms, large sitting areas, a grand piano in one of them, and a large communal kitchen for the families to use. There is another building next door to this one for families of child patients.

On Tuesday morning, we had breakfast at the house. They have free muffins, bagels, toast, fruit, tea, coffee and hot chocolate available, as well as a section that is "house" food available to anyone that is donated by people who are staying and have made to much, or packaged food from residents who are leaving. Residents are able to stay for up to a month.

We then walked across the road to the clinic. There is transportation provided for those who may not be able to walk over.

Admission took about 1/2 hour, and then we went up to the room I was assigned to. Met with the coordinator, went through medical history, had a quick physical exam, had bloodwork done, met the primary doctor in charge of the study. Had a quick lunch. Had a liver ultrasound, which I've never had done before. Apparently my liver looks fine. Then went to the physio/rehab dept where they had me do a number of exercises and strength tests. They only recently added this into the study, as they were finding that most of the subjects were very physically weak. They said I was only the 5th person in the study to do this portion. I had to run up and down 4 stairs (they have railings you can hold onto if needed), and they times it. They had me walk and run 10 meters and timed. Timed the length of time it takes to get from lying down to standing without using any aids like tables or chairs to hold onto. Timed on length of time to do a sit up. Interestingly, they were surprised I could do one at all because other subjects couldn't. And then they had a number of exercises/positions that they timed how long I could hold the position for. I could do them all, but could feel the muscles starting to shake by the end.  Also did some balance tests (not so great at those! Once my eyes were closed I started to tip!) They started to do a number of strength tests, but the one piece of equipment had the battery die, and I was too strong for the tech. We are going to redo these strength tests tomorrow to get more accurate readings.

I then left and went back to Safra house with my husband Mike and daughter Natasha. We ordered in some pizza, and then I walked back across the road around 8pm. Interestingly, as I was walking, there were 6 deer that pranced across the road in front of me! Apparently there are about 35 deer that live on the NIH campus.

Slept for the night, fasting after midnight in order to prep for a 24 hour chamber study that measures exact metabolic rate. Most people opt out of this part of the study, but I think that this is one of the more interesting facets, and am interested in finding out the results. The chamber is sealed, and is basically a bedroom, with TV, computer, treadmill, chair, bed, and washroom facilities. There is a small window facing outside, and a window that faces the nursing desk. Food comes in through a window. They open on one side, seal their side, and then you can open your side to take out the food or vice versa.

Tomorrow I do a body composition in a bodpod machine, and a dexa scan to measure bone density. I will finish the strength testing, have more bloodwork, get a hepatitis A shot, and meet with the geneticist for final results. It looks like I will come back in a couple of months for a bit more testing, and I will have my family doctor give me the second hep A shot. I'm interested to see what the final results will say.

For now, I have 21 more hours in this room. :)


  1. Sorry about your son Kyle for suffering that kind of medical condition but I know Kyle still never lose hope and you as parents should be brave for him and I'm also impress on you that you participate in a researcher study for this disorder and this will surely help Kyle and other patients. Your brave and faith are so inspiring, keep it up.

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