Perhaps one of the most difficult challenges of families impacted by certain rare diseases is trying to appear “normal” for the sake of others in the family. That is one of the challenges the Fosters, both 41, are trying to overcome.
An article in the Kansas City Star describes Michael and Melissa Foster as an average family living in the suburbs of Mission Hills, Kansas. However, this is far from reality as Michael and Melissa’s daughter, Hattie has been diagnosed with SYNGAP1.
Hattie was slow in learning to crawl and more so learning to speak. Doctors assured her parents that she will eventually catch up with others her age.
Unfortunately, this did not happen and her parents began to search for answers on their own.
In the latter part of 2020 Hattie age 6, was diagnosed with autism. The fosters were not confident that this was a proper diagnosis and continued their search. Michael Foster checked the Internet. Over and over he ran into the same information ending in a final “no cure”.
Finally, the parents came to the realization that testing by exome sequencing would bring about the best results. Whole exome sequencing is a form of genetic sequencing that is used to determine the cause of symptoms or disease.
In May of 2021, the Fosters received the call. Hattie had been diagnosed with a rare disease called SYNGAP1. Only 770 people are known to have the disease while 330 cases were reported in the US. Even the Fosters’ doctors knew little about the disorder. But by March 2023, an additional 445 new cases had been diagnosed.
About Hattie’s Diagnosis
SYNGAP1 presents differently in each patient. Hattie has epilepsy, autism, various intellectual disabilities, sleep disorders, gastrointestinal issues, and high tolerance to pain. Hattie’s sleep disorders prevent her (or her parents) from sleeping through the night. Hattie must continue to wear diapers.
About SYNGAP1
SYNGAP1 is a protein existing in the brain with one copy received from each parent. In Hattie’s case, she has one bad copy resulting in the aforesaid symptoms. Unless an effective treatment can be found, these issues will continue and worsen as she ages. Learn more about SYNGAP1 syndrome.
Aggression at the Playground
The Fosters take Hattie’s two brothers, Charlie age 9 and Will age 3 along with Hattie on occasional trips to the playground. Michael and Melissa are always tense at these moments as Hattie may have an unpredictable outburst at any time.
Occasionally and without warning, Hattie will attack other children often pulling their hair and biting. Michael and Melissa have to hold her to keep her from running off. It is frightening to her parents and people watching the outburst. Hattie’s cousins are afraid of her. It is impossible for the family to have dinner together at a restaurant or for the family to relax while away from home.
Michael describes Hattie as being the sweetest little girl but within seconds she may have a tantrum and attack other children without provocation.
The SYNGAP Research Fund
Mike Graglia’s nine-year-old son was diagnosed with SYNGAP1 in 2018. Mike created the SYNGAP Research Fund initially as a fundraising organization. It is now a patient advocacy group that compiles patient data used for research. The Fund connects families to resources and the community.
Michael Foster located Mike Graglia in an attempt to find out as much as possible about the disease that is affecting all the cells in Hattie’s body. Since that time the Fosters have been active at the Fund helping others. It has given them hope. Mike Graglia commented that the work being funded may also help autistic children and children with epilepsy, two of SYNGAP1 symptoms.
Currently, three companies are at work developing medicine that may ease SYNGAP symptoms. The intent is to activate the patient’s good copy and make it work harder. Yet Mike Graglia realizes that even if gene therapy is successful, that does not guarantee a cure.
He explains further that SYNGAP is not a death sentence but unless a cure is found, it will remain with the children for life.
Meanwhile, the Fosters are working at the Fund to help other parents. They are also providing some relief to Mike Graglia who is grateful for their assistance.
