Cyndi Jones is the president of the Sitosterolemia Foundation. This is her family's story, and how she became such a strong advocate for the disease.
My husband, Ashley, and I have three sons. Conner was born in 1996, Caleb in 1998 and Alex in 2000.
When Caleb was five years old we determined that his cholesterol was high, over 300. My husband and I and the other two boys have normal cholesterol levels. Since neither my husband nor I have high cholesterol, Caleb did not fit the pattern of familial hypercholesterolemia. Not wanting to put a five-year-old on statins, I became very strict with Caleb’s diet. In fact, I put the whole family on what is generally called a Mediterranean diet. Caleb’s cholesterol plummeted to 180. The specialist had never seen a reduction that large, and I felt like supermom!
About two years later, my eldest son had a routine check-up that showed he had low blood platelets (idiopathic thrombocytopenia, or ITP) and large blood platelets (macrothrombocytopenia). Conner was referred to a hematologist. No disorder was discovered, however, and when his platelet count returned to normal he was released from care by the specialist. Nevertheless, Conner’s platelets continued to be abnormally large, and I continued to wonder why.
As time went on Caleb’s cholesterol did not remain as low as 180 (it was difficult to maintain an extremely rigid diet), but his generally healthful diet kept it in the 200s, with a good ratio. In 2010 we remodeled our house and I lost the use of our kitchen for several months. As a result of my inability to cook while our kitchen was out of commission, Caleb’s diet during that time was much closer to a typical American diet. As a consequence, Caleb’s cholesterol shot up to 432! Everyone was alarmed and he was started on a statin. Unfortunately, the statin didn’t lower it enough, and it remained in the 300s.
Frustrated by years of not knowing why Caleb had high cholesterol, and uncertain how it would ever be kept in check over the long haul, I began to Google researchers studying cholesterol. I sent a lot of emails, not really expecting responses. I did get a response from Dr. Helen Hobbs in Texas, who recommended I participate in a study. We shipped blood samples to Dr. Hobbs who discovered Caleb had sitosterolemia. After reading that sitosterolemia can manifest solely with large platelets, I shipped blood samples from both of my other sons. As I suspected, Conner (the one with large platelets) also has sitosterolemia even though his cholesterol was never high. Our third son, Alex, does not have sitosterolemia.
Sitosterolemia is such a rare condition that most doctors do not know about it and, therefore, do not check for it, or advise patients about it. Caleb had three signs that pointed to sitosterolemia:
A child with high cholesterol whose parents do not have high cholesterol
Cholesterol levels that vary greatly with diet (turns out I’m not supermom), and
Cholesterol levels that do not respond well to statins.
Conner’s only sign that he had sitosterolemia was his large platelets.
Neither boy ever had xanthomas, which are common with sitosterolemia. The absence of xanthomas should never be used to rule out sitosterolemia.
Caleb stopped taking the statin and both boys now take Zetia. Caleb’s cholesterol quickly dropped to normal, regardless of what he ate (much to his delight!). Their levels of plant sterols have come down, but not to normal levels. Initially I hoped the Zetia alone would bring their plant sterol levels all the way down to normal. Since it did not, we have reduced their consumption of plant sterols. Unfortunately, this restricts them from some otherwise very healthful foods.
I am so thankful to have a diagnosis. At the same time, I am also frustrated by the lack of information about this disorder.
I have two sons with high plant sterol levels. I understand that high plant sterol levels may have a negative impact on a person’s cardiovascular system. However, I do not know how high is too high. I don’t know if my sons’ plant sterol levels fall in an acceptable or dangerous range.
My sons have altered their diets to try to reduce their plant sterol levels, and doing so has proven somewhat successful. The changes they have made to their diets are not changes anyone would typically suggest for someone who does not have sitosterolemia. In fact, the changes are often opposite of what would generally be viewed as healthful (avoiding nuts, beans, whole grains, limiting vegetable oils and cooking with butter instead). I don’t know the extent to which we should be striving for diets that attempt to impact their plant sterol levels further.
My sons diagnoses with sitosterolemia are the result of some of my own research and a certain amount of serendipity. I suspect that there are a lot of undiagnosed cases of sitosterolemia. I believe that we will only learn more about sitosterolemia when more patients are identified, and those patients participate in studies.
I am happy to say that all three of my sons are healthy and active. The two with sitosterolemia have each had a carotid doppler and there is no sign of atherosclerosis in either. I plan to do all I can to work with clinicians and researchers to keep them healthy. I became involved with the Sitosterolemia Foundation because I believe it will be a vehicle for supporting families dealing with this condition, for educating clinicians about this condition so currently undiagnosed cases can be identified, and, in turn, obtaining answers to the questions I have about my sons’ condition.
I would encourage anyone reading this that has unexplained high cholesterol, or unexplained low and/or large blood platelets, to speak to their doctor about sitosterolemia. A simple blood test will show whether you have elevated levels of plant sterols in your blood plasma. I would also encourage those with sitosterolemia to participate in research studies. With so few patients diagnosed thus far, large scale studies have not yet been possible. Here is the link to learn about studies as they are planned and to register with the Rare Diseases Clinical Research Network: https://www.rarediseasesnetwork.org If you have sitosterolemia, please register. Registering does not commit you to participate in anything, it simply helps you to stay informed. Also, please contact us here at The Sitosterolemia Foundation at firstname.lastname@example.org. We are here to address any questions and concerns you may have. We have a team of doctors on our medical advisory board to whom we can send questions.
Sitosterolemia is rare, but not as rare as current numbers indicate. By spreading the word and identifying those with this condition, we will be able to learn so much more, and those with sitosterolemia who are currently not being treated will receive the care they need to be healthy again. Together we will make a difference!