Robert’s Road to Recovery Journal
Presented by the International Society for Mannosidosis & Related Diseases.
Kathleen’s Diary: December 18, 2001
The Stark/King/Olsen Update
As many of you are already aware, the above family (S/K/O Family, for future reference) had an eventful year; Robert’s bone marrow transplant being the biggest event of the year.
In January, we took Robert to see the genetics doctors down at Cedar Sinai for a second evaluation. Robert was having new problems (vertebras breaking down and a couple of new trigger fingers). As far as I knew, birth defects formed before birth and not after. This led Mark and I to hypothesize that Robert was suffering something more than birth defects. The doctors at Cedar Sinai were very nice but sent us away with some assurance that they did not believe it was a syndrome. The resident called me a week later to say they had plugged Robert’s characteristics into their data base and the results were that the data pointed to a little known (only 200 cases in the world) syndrome, called alpha mannosidosis. This syndrome leads to a loss of a key enzyme. Without this enzyme, there is hearing loss, loss of balance, mental retardation, and break down of bones, toughening of joints and psychotic episodes in early adult hood. The only therapy is a bone marrow transplant.
Fortunately the alpha mannosidosis foundation has an excellent website and we were able to find out how to test for the syndrome, which doctors to talk to about it, schedule appointments, test for bone marrow compatibility with Robert, and start an unrelated search soon after we found out none of us was a match.
We started a search around Valentine’s Day and found a donor by June; Robert was transplanted in mid-July and home by early September. It is still not clear whether Robert’s transplant will work; he is considered a chimera (a mythical figure, half lion, half griffin). His blood is made up of 80% donor and 20% his own. If he does not fall below 50/50 he will be fine. If he does fall below, he will have to go through chemo again in the hospital and be transplanted again using the same donor.
Robert is only the fourteenth transplant patient with this syndrome. A lot is not known yet. Fortunately, he had a completely altruistic donor, not like our next-door neighbor in the hospital, JoJo. JoJo was Asian and no donor was found. UCSF had to use cord blood with only a 60% match. We miss JoJo and pray for him all the time. Every time I think of JoJo, I imagine him playing a fun game of baseball in heaven.
The rest of the kids are doing great. They do miss having their friends over to visit and sleep over (we have to avoid this until Robert is healthier). Robert’s twin, Matt has been talking about death all the time. An imaginary school friend is always dying because someone has taken all his platelets.
Robert seems to be walking a little better, his balance is slightly better and he tries to run everywhere. I need to stop here and say we are all healthy and thankful, thankful for helpful family and friends, and good health insurance. If you would like to learn more about Robert’s hospital time, please look up ISMRD on the web. Pull up “Robert’s Road to Recovery” and you will see a day-by-day diary and pictures of Robert in the hospital. And if you want to see what we do with our spare time, please look up www.svch.org[link no longer active] (Silicon Valley Children’s Hospital) and read about the effort in our area to open a children’s hospital.
Love from the S/K/O Family
