Christina was 36 years old when her sixth child was born. Her newborn daughter was different from the any of the others, and as time passed Christina began to realize that her new baby had a severe disability. Caring for this daughter would require Christina to change her life drastically, and those changes would dominate Christina’s life as long as her severely disabled daughter survived.
Not long after Darwin’s theory of evolution began to gain widespread acceptance, the notions like “survival of the fittest” and “the law of the jungle” popularized the idea that ruthless competition determined progress. This was based partly on a simplistic misunderstanding of evolution and partly on wishful thinking of powerful people who wanted to justify their own good fortune. Of course, it is true that competition within and among species is important, but much more recently science has recognized the roles of cooperation and caregiving as being equally if not more important to survival.
Of course, it seems unlikely that that Christina knew anything about evolutionary theory. She simply responded to her daughter’s needs. An older daughter pitched in and helped Christina at times. Nevertheless, most of the caregiving remained with the mother’s job. Christina didn’t let others who were not family members share caregiving responsibilities. She carried her daughter wherever she went, and did the best she could as long as her child survived.
When I read Christina’s story, I thought it sounded she sounded a lot like other parents of kids with severe disabilities that I have known. What was different was where Christina’s story was published; it was in the journal Primates. Christina is wild chimpanzee living in the jungle in Tanzania.This Wall Street Journal YouTube video provides a glimpse of Christina’s life with her daughter. Although this appears to be the first published study of caregiving for a severely disabled infant by chimpanzee, Christina’s caregiving behavior is not unique and it is not exclusive to primates. Caring for a disabled individual has been observed among a wide variety of animals. For example, his story of a pack of Orca’s provides an interesting example of “Killer whales” caring for a disabled pod member by bringing him food because his disability makes it impossible to get his own food.
There is also paleontological evidence of the earliest humans and prehumans caring for severely disabled children; some dating back 100,000 years or more. There are a number of examples of skeletal remains of children adolescents with evidence of significant disabilities have demonstrated that families (and most likely communities) cared for children and adolescents with severe disabilities during the paleolithic era. The skull and spines of these individuals reveal that they lived for many years with disabilities that would have been much too severe for them to survive without the help of caregivers.
In spite of all conflict, violence, and all of our human failings, humans have become the most successful species on this planet precisely because of our powerful will to care for each other. Families and communities caring for children and adults with severe disabilities exemplify this essential human quality.
Let me start by admitting that this post is partially just a theory on my part. So, let me start out by separating what we know from what I thank might be the case. Here is what we know:
• Many individuals with MECP2 duplication suffer from frequent, prolonged, and often severe bouts of pneumonia.
• Many of these same individuals have dysphagia (swallowing difficulties) including increased risk of food or fluid particles entering the airway.
• In at least some cases, food and fluid entering the lungs causes or contributes to these bouts of pneumonia.
• Many individuals with MECP2 duplication experience gastroesophageal reflux.
• Gastroesophageal reflux can also cause or contribute to aspiration pneumonia.
Now, here is my theory: While the issue of dysphagia (swallowing problems) has been the focus of managing aspiration pneumonia in individuals with MECP2 duplication syndrome, gastroesophageal reflux may be responsible for as much or more of this problem. Continue reading
Research published in December 2016 provides a bit more information about seizure disorders in MECP2 duplication syndrome, particularly as they compare to seizure disorders in Rett syndrome. In general, this is a great piece of research as it describes the course of seizure disorders in Rett syndrome over a period of years. It emerged from the earlier natural history study. Unfortunately from the the perspective of MECP2 duplication syndrome, this publication is a bit disappointing, not because of any weakness in the sturdy or the reporting, but merely because the number of participants with MECP2 duplication and the number of observations in the study was relatively small, which only permitted a very limited picture of this group. If there is a lesson for the MECP2 duplication syndrome study to be learned from this study, it may be the importance of participation in the current natural history study in order for researchers to be able to glean useful information.
Nevertheless this study did briefly report some general observations relevant to MECP2 duplication syndrome:
To all the affected families, to everyone who reads this blog, and to the rest of the world in general. Hope you have a great Christmas, Hanukah, Kwanza, Saturnalia, or whatever is meaningful to you. Some of you will be celebrating, some will be working, some will be struggling today, but I wish you all the best today, and for 2017.
2016 saw lots of progress toward research, but sadly saw too many families suffer the loss of cherished family members. Many more families had children diagnosed with MECP2 duplication syndrome this year. There were many new readers of this blog, and many new members of the MECP2 duplication syndrome Facebook Family Talk Group as well as other groups connecting families.
Best wishes to all the remarkable families that that are committed to caring for family members with severe and multiple disabilities.
This is a great story from the Courier in Scotland. Gillian Bayford, a landlord who won the lottery, is sharing her good fortune. In addition to supporting the remodeling of his home to support Blake McMillan’s special needs, she is directing all the rent paid by Blake’s family to support research on MECP2 duplication syndrome, the condition which affects Blake. For more info, see the original story in the Courier.
It is great to see creative ways that people are finding to support this cause.
The following is a message from Dr. Sarika Peters at Vanderbilt University:
We at Vanderbilt University Medical Center are conducting a study of the clinical, immune, and stress markers of disease progression in MECP2 Duplication Syndrome. This study is essential for us in order to establish biomarkers of disease progression, as well as potential clinical endpoints for treatment trials.
Both boys and girls are being included in this study. At this time, we are including children between the ages of 3-18 years. We will be asking you to gather blood and saliva samples from your child, and then will be asking some questions related to their overall functioning, regression, seizures, and illnesses. We will follow-up with you once per year for a total of three years.
Although this study does not require an in person visit, if your child has participated in the natural history study, we do request your permission to have access to their clinical information.
At this time, I unfortunately do not have funds to pay for international shipments of samples.
For more information if you are interested, please email: firstname.lastname@example.org
Posted in Research
New research from Canada provides additional demonstration of reversibility of MECP2-related disorders. Researchers from the University of Toronto and the Hospital for Sick Children have demonstrated that the volume of specific areas the adult brains of Rett syndrome mice actually undergo a growth spurt withe the normalization of levels of MeCP2 protein. These results were presented in San Diego on November 16, 2016 at the Annual Meeting of the Society for Neurosciences.
These findings are consistent with previous research on reversibility, such as those from the Zoghbi lab at Baylor, and also provides additional new information on the normalization of brain volume.This growth spurt in adult brains is quite an exciting finding, even if some caution is required in generalizing this finding from lab mice to humans.
More information can be found here.
While Rett syndrome and MECP2 Duplication Syndrome are typically discussed as genetic syndromes, they are both examples of a small subset of genetic syndromes called epigenetic syndromes. During most or the 20th Century scientists believed that genetics determined most of our health and behavior in ways that were relatively unchanging throughout our lives. During the second half of the 20th Century, most scientists believed that this genetic information was immutably coded in our DNA. During the last decade of the 20th Century, however, this view was modified with the recognition of epigenetics.
Epigenetics is the process by which DNA is modified by an individual’s interaction with his or her (internal and external) environment. Continue reading