I can’t tell you how many times I have heard that from one of our chromosome 18 families. Perhaps parents feel that we know all there is to know about what to expect for young children with chromosome 18 conditions. However, I am here to tell you that research is as essential as ever and will make a difference in the years to come in the lives of all of our children.
Some of our children, the ones who were the first to enroll in the research study, are now entering adulthood. We know almost nothing about what to expect for them. They may be at risk for health problems that can be prevented or have successful treatments. It is vital that we know what to look for to ensure that they can continue to lead healthy and productive lives.
Thanks to the participation of families that came before, we are starting to get an idea about what adulthood looks like for our loved ones with chromosome 18 conditions. However, there is so much more to learn. Let me give you just a few examples of the questions that we need to answer.
Tetrasomy 18p
In the last few years, we have learned that everyone with tetrasomy 18p, even as young as four years old, has low bone mineral density. This puts them at risk for multiple bone fractures. We need to learn how to best treat this. The early data suggest that Vitamin D and Calcium supplementation helps normalize their bone mineral density, but we need additional data to confirm this. In addition, some medications are detrimental to bone mineral density and should be avoided in people with tetrasomy 18p. We are collecting follow-up data from the families enrolled in the study so that we can make treatment recommendations on how to best manage this problem.
18p-
There is a gene on 18p that has been linked with an adult-onset neurologic condition called spinocerebellar ataxia. When this gene was first identified by researchers, we immediately understood the implications it could have for people with 18p- and began to evaluate adolescents and young adults with 18p- to look for the first signs of the condition. We are happy to report that, so far, we not identified anyone with 18p- and SCA in our study population. This may be because our study group is still relatively young. We need to continue to monitor study participants as they age to determine whether they are actually at risk for SCA.
18q-
We have long known that people with distal 18q- have incomplete myelination of the central nervous system. This is called dysmyelination. We believe that dysmyelination contributes to slow reaction times, attention problems, anxiety, and depression in our 18q- population. However, dysmyelination may have additional implications in later adulthood. Emerging data from other researchers suggest that people with Alzheimer’s disease have reduced amounts of myelin. It is not known whether this is a cause or an effect of Alzheimer’s disease. We are concerned that people with reduced amounts of myelin, such as our loved ones with 18q-, may be more susceptible to Alzheimer’s disease. At this point in time, this is entirely speculation. However, it is a concern we take very seriously. This is one of the reasons that we have focused on developing cell-based and mouse models for myelination. In addition, we are initiating evaluations of adolescents and adults to identify and document any neurologic changes. Unfortunately, this has been delayed by the pandemic. However, monitoring for possible effects of reduced myelination will begin in the near future.
In conclusion, our children are fast becoming adults, and screening recommendations and treatments are needed. I hope that I have stressed the absolute necessity of continued research and the promise that it holds for all of our children. This will only be possible through continued research participation and funding.
