On April 30, 2017 during our PACS1 Family gathering we were so thankful to have Dr. Wendy Chung join us for a mini-conference. Dr. Chung is a geneticist from Columbia University in NYC. She works with Simons VIP to provide families access to research opportunities, support and information.

Initially, Simons VIP focused on certain copy number variants associated with autism. They have expanded their research to include a wider variety of genetic events that cause neurodevelopmental disorders, (like PACS1).  The main goal of Simons VIP is to help provide treatment and care by identifying the genes that cause medical, cognitive and intellectual disabilities.

In regards to children like Bridget who are born with PACS1, Dr. Chung explained to us how we have 46 chromosomes, 23 from each parent. What she found interesting is that for persons with PACS1, they all have one perfectly working PACS1 gene and one that went “rogue”. It is unknown if the rogue gene is from the mother or father. They do not know when the gene goes rogue. What they do know is that each child that has PACS1 has the exact same p.Arg203Trp mutation in the PACS1 gene. Apparently this is not a common occurrence.  Even in children with Down Syndrome there are variations within the gene. This means that if they discover a treatment to alleviate the PACS1 symptoms (i.e. a certain speech therapy) it should work for all of the children.

One of the disadvantages the PACS1 parents face is that there are only 52 cases diagnosed, and only 20 of the families have registered with Simons VIP. The more families that register the more the researchers can determine what is PACS1 and what is Bridgetitis. The median age is 12, as older children are diagnosed it will help us understand how PACS1 impacts our children as they age. In a nutshell, we need more older children/adults diagnosed.

This is not only for PACS1, but for all rare syndromes. As sad as it may seem, the younger the child the more likely parents are going to pursue genetic testing. As the child ages the parent is more engaged in making arrangements for care after school ends then in finding a cure. They know that when a cure is finally discovered the odds are unlikely that the cure will have any benefit to their child.

I signed up with Simons VIP knowing that whatever is discovered will not help Bridget. I signed up so the parent who gets the PACS1 diagnosis will not be told they are rare but that they are supported.

If your child has autism, an intellectual delay or an unknown diagnosis I implore you to connect with Simons VIP It costs nothing to join.  You can enroll as a community member or a study participant. We enrolled as a study participant. Once we did that, they collected our saliva for the Exome sequencing. If you might remember, we had to travel to GA to have this done with Bridget. That in 2.5 short years I find out this could have been done from the comfort of my home is mind-boggling.  After that you can upload any prior genetic testing you had done. There will be questionnaires to be completed. Simons VIP will provide you with your testing results and then keep your information on file.

As a repository, instead of duplication of research this will streamline research projects. If a researcher, for example, is interested in PACS1 instead of reinventing the wheel, the information is at their fingertips. The researchers will be able to contact families directly with new information and possibilities.

Eight years ago when Bridget was born we would have had the answer to Bridgetitis. Instead we went five years without our PACS1 family.  Recently we have had more families diagnosed. One has a son who is 22 years old. Makes me feel guilty for bemoaning our 5 years in the abyss. Even after 22 years this mum is so very thankful to have a diagnosis.

If you have a child with an intellectual disability or autism or the unknown do not miss the opportunity to find a connection.

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Full disclosure: I have enrolled Bridget into the Simons VIP research. Although siblings are encouraged at this time we have not enrolled her sister.  The only payment I have received is the gift card that all families who enroll. This is common practice in all research studies.