A little perspective
It’s been an emotional week.
I am an advisor for a patient association (Naevus 2000) for a rare disease called the congenital giant nevus. For more information in English, the American site Nevus Outreach is well done and a serious group.
About one in fifty already rare people affected with CGN can develop neurological symptoms. Like the similar risk for melanoma, there is currently no treatment, and while it is possible to excise a melanoma if you catch it early, it isn’t even possible to excise a giant nevus on the meninges. It is unclear how it leads to hydrocephalus, but somehow the excess pigment cells interfere with the normal function of the choroid plexus, leading to misregulation of internal pressure. Other complications can be melanoma in this location or other variants of more traditional brain tumors.
Congenital cancers – even if they develop and become problematic postnatally – fall under the same umbrella as congenital malformations. Some cells got programmed wrong and react inappropriately to the changing microenvironment.
The president of the association called me and asked if I couldn’t talk to a family whose four-year-old girl was having neurological troubles. This is always delicate because I am not a medical doctor and I always have to make my disclaimer. When I do talk to the families, I tell them that I can act as a translator, since I know what the doctors are talking about. But I may not make diagnoses or recommend treatments.
Last Tuesday, little L became hemiplegic overnight. The parents took her to the local hospital, who sent her home with anti-inflammatory medicine after she stabilized and spontaneously recovered. She then lost use of the other side of her body a couple of days later. We (association and me) called on all of our connections to get her seen by some top pediatric specialists (neurologists, neurosurgeons). She recovered again. She has an edema on the brain; I don’t know more than that, but her EEG was abnormal as well.
However, it makes you live the emotional roller coaster with the family. I call back each time they call (or take them right then when I can) and it is so immediate, I wonder how do doctors working the emergency shift handle discussing prognoses with the family? At least in this case, L is still alive and things are under control. However, the long term does not look good, and that means living it all one day at a time. If I am dreading the next call, the final outcome, what must it be for the parents, who have to go back to work, the big sister, farmed out to her grandparents, the preschool teacher, not sure she will recover her ward,…?
But this, like so many other rare diseases, is not a priority for funding by any current large organization anywhere in the world. I know something about this; I have been looking for years. Never mind the unequivocal link to developing melanoma, a potentially deadly, relatively common cancer that affects around a few dozen out of every 100,000 people of European descent each year.
It’s always up to patient advocacy groups to raise funds, finance pilot projects, and raise consciousness first. So, go support your favorite cause today, because they really could use your help.
Posted on Wednesday, October 31st, 2007 at 8:31 am Categorized as:General You can leave a response, or trackback from your own site.
November 1st, 2007 at 8:56 am
It’s often the case, isn’t it.. that so many of our worries are only worried because there isn’t anything “big” going on. A life without big would be a surprise indeed, but at least the capacity for differing fortunes keeps us competitive as a species.
I don’t envy you that role, though. In a previous incarnation as a tax adviser for a bank, I was often one of the first to deal with a recently bereaved widow/widower when looking at the estate administration and so on. It’s never fun, but the simplest or courtesies and understanding are repaid a thousand times over.
-Geoff
November 25th, 2007 at 5:38 pm
[...] the down side, the little girl I had written about earlier with respect to this pathology has recovered the use of the paralyzed half of her body, for now. [...]