Allyson “Ally” Lark celebrated her 6th birthday at the end of August. Her family hails from Manitoba, Canada, approximately three-and-a-half hours away from Winnipeg by car. As in the photo with her Rare Bear, Ally is a happy kid. Her mother Madelaine “Leni” Lark describes Ally as an, “energetic, kind, spunky, beautiful, lovely little girl” whose likes include “horses, penguins, music, dancing, spending time with her big sister Bethany and the rest of her family.”
Ally has also been diagnosed with some physical conditions, which include Global Developmental Delay (GDD), Hypotonia and Soft Neurologic Signs (SNS). By utilizing genomic sequencing, it is the hope that Ally’s family can find more answers concerning the details of Ally’s conditions. Ally’s genetics and metabolism doctor (Dr. Patrick Frosk of the Children’s Hospital Research Institute of Manitoba), posits that Ally’s physical features are indicative of a metabolic disorder. Though genetic testing has not yet yielded a specific name for the disorder that Ally has, it is the hope of Ally’s family that as new developments and discoveries are made, Ally’s genetic information may be referenced and a more definite diagnosis may be reached soon.
A frustrating aspect of receiving the diagnoses that the Larks did when Ally was just two years old is the uncertainty of the developmental potential of their child. By contacting the Rare Genomics Institute and having sequencing performed, it is the hope that at least some of that uncertainty can be removed.
Ally's mother Leni described receiving Ally’s diagnosis, “we were very scared as her future at that point was unknown. We did not know what her developmental potential would be, and we did not know what to do, or where to start.”
Ally’s condition is a recognized disability in Canada. However, living nearly four hours from the nearest city has impacted the ability of the Larks to get the one-on-one care their daughter needs. Leni notes, “Resources (here) are so minimal for kids with disabilities. It is up to families and schools/daycares to provide therapies. This is frustrating because we are not able to access crucial resources for Ally as much as we would like, particularly speech therapy and PT…Despite all of this, Allyson has made tremendous gains!”
Like many of us, Ally does not enjoy going to the doctor. But on Boxing Day 2016, her mother contacted the Rare Genomics Institute in an attempt to get Ally the care she needed through the use of whole genomic sequencing. Ally did not qualify for sponsorship of this kind of genetic testing in her home province. However, the Rare Genomics Institute was happy to help the Lark family. Having been selected to receive Whole Exome Sequencing for their daughter, the Larks saved out-of-pocket costs that could have totaled more than $20,000.
The Lark’s experience with the Rare Genomics Institute has been a positive one. Though there is no answer at present as to why Ally has a developmental delay, her mother encourages all families in need of sequencing to reach out to Rare Genomics. Leni stated, “I would have regretted passing up this opportunity… (Rare Genomics is) great to work with! I was worried there would be a lot of red tape to go through as we are located in Canada and Rare Genomics is an American agency, but things went so smoothly.”
The family’s plan now is to continue supporting their daughter any way they can. We at the Rare Genomics Institute are proud to have been a part of that support. If you or someone you know could benefit from whole genomic sequencing, please reach out to the Rare Genomics Institute via the links on this webpage.
Daryl Velez
