My seven-year-old son just spent six very trying days in the hospital. He suffers from a Lysosomal Storage Disorder (LSD), Type III Gaucher Disease. It’s not something he caught; it’s genetic. In simple terms, his body lacks the enzyme it needs to break down the waste material in the blood (glucocerebroside), with the result that it accumulates in the spleen and liver. Eventually, it gets into the bone marrow and from there into the brain stem. The end result is death.
To prevent this from happening, he receives weekly enzyme infusions that run to about $5K per, exclusive of supplies and nursing care. He must receive an infusion every week until the rest of his life or until a cure is found. As you can imagine, keeping him alive is a terribly expensive and frightening preposition. There have been times we were not certain he would continue to receive care due to insurance issues and twice supplies of enzyme have been limited by production problems in the one plant in the entire world that produces it. He has a much thinner and precarious lifeline than most of us since of our lives do not depend upon one factory; without it, he dies. It’s as simple as that.
That photo above is what my son looked like just before he was diagnosed. The L and S show where his spleen and liver are – where they are not supposed to be because they are swollen far beyond normal size. Needless to say, if you look like you are nine month’s pregnant you are going to have some of the same problems pregnant women have with regards to sleeping. Yet his highly-touted pediatrician didn’t even notice. I won’t get into the diagnosis of the disease here; suffice it to say you don’t always get what you pay for, and being a dedicated Christian who refuses to prescribe birth control doesn’t make you a good doctor.
When he was just under two, my son had an infusion port surgically placed into his chest below the right clavicle. It allows infusion of the enzyme, called Cerezyme, which replaces the enzyme his body can’t produce. After nearly six years the port gave up the ghost and disintegrated. Attempting to use the port caused excruciating pain and we were directed to take him to the ER in Baltimore. The next day, using general anesthesia, they attempted to remove the old port and emplace a new one. The new one was successfully emplaced but part of the old one was attached to the blood vessel, having become attached to the body’s tissues. This necessitated a second procedure on Tuesday, by Interventional Radiology (IR). This image-guided surgery required that he be put under again and a probe inserted through his groin. The fragment was extracted successfully, being removed from his body via the hole made in the vein in his groin. The fear had been that the fragment would break free and travel to the heart. Between Friday and Tuesday he was kept in bed, not allowed to walk for fear the fragment would come loose, and he was on a monitor the entire time.
It’s going to be an expensive visit, especially for the insurance company, not that we don’t end up paying thousands ourselves in co-pays deductibles, etc. Time and again we have been told that we don’t qualify for this or that form of assistance because our income is too high. When treatments run to 5k/week, how can any income be too high? That’s a quarter of a million per year for the medicine alone, and making well under 100K is making too much? In what universe does this make any sense? And we have Republicans telling us that because we have hospitals we have healthcare? To say they are divorced from reality is to put things too lightly.
When I think about all the parents with sick kids who can’t get proper treatment, it breaks my heart. My son was lucky to be covered by insurance. He is lucky to be well-looked after by the National Gaucher Foundation and by the Genzyme Corporation, which manufactures the Cerezyme. Our case workers at Genzyme have been real advocates for my son’s care. Time and again they have stepped into the breach to deal with doctors, insurance companies and the middle-men who coordinate his home health care. The local director of training even put in an appearance at his school to hold an inservice, educating the school staff (sadly, not including the principal or vice principal) about his disease.
Diseases like this don’t receive much attention, however deadly they are. You won’t see commercials on TV or decals on cars and football players won’t wear ribbons dedicated to spreading awareness. You hear about leukemia and breast cancer but you don’t hear about Gaucher Disease. Only a few thousand people suffer from it; about 1 in 20,000 live births for Type I and 1 in 50,000 live births for Type III.
There is no actual treatment for Type III. They treat him as they would treat a Type I patient though Type I patients do not suffer neurological involvement. It is very important to this father that the Republican War on Science, and on heatlhcare, not succeed. Without the money spent on research and on developing treatments (and cures) people like my son would have a very bleak future, far more bleak than it already is. You can begin to understand, perhaps, why I am so adamantly opposed to the Republican agenda for America (beyond their general intolerance of anyone who is not a heterosexual white fundamentalist Christian).
If the Republican vision for America came true, my son would probably die (personal responsibility and all…I mean, he didn’t have sex with somebody else’s wife or with a congressional page…he was just born with a disease he has no control over). The Republican Party has made clear its position on healthcare for Americans – the only people who deserve it are the rich and members of congress – the latter being insurance we pay for but don’t ourselves receive.
There are many children like my son and they are nothing to Republicans. Republicans are interested that every fertilized egg be born but once born they have no interest in keeping the child healthy or alive. This makes the Republican Party the natural enemy of parents like me. Because, and tell me if I”m wrong, it doesn’t seem reasonable to me to tell him that having been born, he no longer possesses the rights the Republicans claim he possessed as a zygote. Why is it a fertilized egg has more rights than my actual living, breathing son, who has a name and a social security number and an attendance record at school, who loves and feels and talks and thinks – and suffers? I want the Republican Party and their circus of candidates to answer this question for me. I don’t think it’s too much to ask.
Image from GaucherCare