From April 22 to April 23, 2022, the CureGRIN Foundation and GRIN Therapeutics conducted their 2022 GRI Virtual Conference, a special online event designed to converge patient families, industry stakeholders, clinicians, and scientists to work together and collaborate towards the development of therapies for GRI disorders. Participants will have a special opportunity to learn about the latest advancements in research and treatment. Patient Worthy was able to attend the Family Presentations, which took place on the morning of April 22.
In these sessions, people who have been directly affected by a GRIN disorder had a chance to share their stories and experiences. The first speaker in this segment was Kat Reiher. Both her daughter Abby and husband Matt were diagnosed with GRIA2 disorder. Throughout Matt’s life, he has experienced several symptoms as a result of the disorder, such as:
- Asperger’s
- Difficulty with constipation, especially as a child
- Developmental delay – didn’t walk until age two
- Possible seizures
However, Matt has been able to live a full life with a loving family and career.
The first sign of trouble was that Abby was born with a heart defect, which was able to be repaired successfully. Some other challenges for her have included constipation and severe reflux. Abby has had some developmental delays, and currently is using a stander at 16 months old. She had also started grasping objects:
“We’ve started grabbing objects finally, which has meant so much to me.” – Kat
Some mysteries that the family still doesn’t understand are the greater severity of Abby’s symptoms compared to Matt’s, her regression at six months, and her high levels of vitamin B12 and calcium.
The next person to share was Alyson Koopman, whose 11 year old son Evan lives with GRIN1 disorder. His disorder was entirely de novo, meaning it appeared randomly and was not inherited. He showed signs of trouble from birth, with seizures and feeding difficulties. He also displayed developmental delays; Evan first sat up on his own at age two. He received an official GRIN1 diagnosis at age 8.
Other symptoms that Evan has experienced include:
- Autonomic breathing disorder
- Sleep problems
- Diarrhea
- Reflux
- Movement disorders
- No speech, limited communication skills
- Vision problems
“So our life is, yeah, kind of hectic and a bit crazy. He is very determined, and he has a really infectious laugh, and loves giving cuddles.” – Alyson
Alyson talked about how a lot of coordination of care falls on the parent, and it can take some time before a care team can come together. A team of specialists is often needed to take care of children with a rare genetic disorder. Kat says that Abby’s care team has finally begun to coordinate at Kennedy Krieger hospital.
Alyson says that Evan’s greatest challenges on a day to day basis are probably is autonomic disorders, such as movement abnormalities and breathing problems. Managing his gastric disorders, which often results in diarrhea, is also very tough for Alyson as a caregiver.
Kat says that Abby’s biggest challenge is low muscle tone, which is continuing to make movement and strength development very difficult.
To check out the full session, click here.
