In October 2013, my son, Liam Joseph, was born with Cri Du Chat Syndrome. I had what most would have considered a typical, complication-free pregnancy, which included regular visits to our obstetrician. However, three weeks into my newborn son’s life, we were given the diagnosis of Cri Du Chat.

Like many families who have walked this path before us, the medical professionals provided us with a relatively simplistic prognosis characterized by an enormity of physical and cognitive challenges. These challenges and the severity of the situation were labeled for all those affected by the syndrome. We were given little hope that there may be a brighter future for Liam, other than the impossibly challenging path described on the 8” by 10” piece of paper that was handed to us.

Since then, my husband and I have contacted many of the known experts on this syndrome in order to find answers and gain a deeper understanding. But we quickly realized that we were facing a daunting task due to the lack of more complex research. The majority of information presently available focuses on diagnostics, identifiable physical features, the type and location of the chromosomal deletion, and descriptions of symptoms. Only very recently has there been published research that begins to identify specific gene and protein insufficiencies due to the deletion of part of chromosome 5, establishing it as a causative factor for the clinical features that occur.

The sad fact remains, though, that CDC Syndrome is still relatively poorly researched in comparison to other more common genetic syndromes.
— Megan Leston, CDC Research Foundation Co-Founder

Unfortunately, as genetic technologies continue to advance the world of medical science, there remains scarce funding and a lack of a centralized cohort of Cri Du Chat specimens for scientists to utilize. This has limited the extent and quality of research that can be conducted on a cellular level to gain a more comprehensive understanding of the specific chemistry that actually causes the symptoms and challenges of this syndrome.

This information is essential if we are ever to make progress in understanding this diagnosis and finding other ways to help the ones we love. Currently, there is little understanding of the insufficient proteins or enzymes causing interrupted message pathways in the bodies of those affected. Or, the potential of a natural body substance that could be acting as a toxin if over-expressed. Furthermore, it is unknown if there are even vitamin deficiencies as a result of the specific chromosomal deletion.

These uncertainties represent extraordinary opportunities for further research into Cri Du Chat syndrome. After speaking with several members of support groups for other genetic disorders, including more recognizable ones like Down syndrome and Cystic Fibrosis, as well as other more rare disorders, such as Progeria, Pseudoxanthoma Elasticum (PXE) and Phenylketonuria (PKU), we have found many examples of genetic diagnoses that have benefited from increased knowledge of the pathophysiology, which can be gained through enhanced research. This information has led to treatments that utilize nutrition or diet, drugs or preventative medicine to improve the quality of life of those affected.

For example, PKU researchers were able to develop a drug and diet regimen to limit the impact of the cognitive challenges associated with that disorder. In regards to Down syndrome, accumulating data suggests there is an over-expression of an enzyme, dryk1a, which is thought to play a critical role in the development of intellectual deficits associated with this diagnosis. A recent study resulted in the discovery of a natural gene blocker made from green tea abstract used to suppress the over-expressed enzyme and lead to positive results for memory and learning. The key takeaway in this example is that genetic compensation, or up and down regulation, can occur after the disruption of a normal genome. We have been encouraged, by our team of professionals to explore the use of organic molecules, nutritional supplements and medications to support the pathways interrupted by the 5p deletion. These are just some questions to which we are unable to receive any definitive answers as of today.

For this reason, in July 2014, with the support of family, friends and other Cri Du Chat advocates, we started the Cri Du Chat Research Foundation, which is specifically intended to advocate for and facilitate research. During our fact-finding work into the activities taken on behalf of other genetic disorders, we were enlightened to the importance of the use of biobanking along with genetic registries. These crucial pieces function as central repositories for well-described genetic samples to facilitate biomolecular research. To that end, we have partnered with the Genetic Alliance Registry and Biobank (GARB) to share in their infrastructure and help guide us through the process of facilitating this type of research.

The unfortunate truth is that, every year, there will continue to be others diagnosed with Cri Du Chat syndrome, but, with the growing support for research and further advancements in genetic technologies, we can make progress. We recognize that this research will not necessarily “find a cure” for those affected by Cri Du Chat syndrome. We do, however, remain hopeful that it will lead to translational research and, ultimately, improvement in the quality of life of those dealing with the daily challenges caused by this rare disorder. We, like you, want our loved ones to reach their absolute fullest potential.

You can help. We cannot do this alone. We will need the support of families like you – families who can provide the genetic samples and registry data required to begin this important research. Both GARB and our Foundation understand the sensitivity of the information gathered from those who are interested in participating. Policies are in place to maintain the privacy of all participants. 

- Megan Leston
  CDC Parent & Certified Pediatric Nurse Practitioner