Oliver Overcoming a Rare Genetic Mutation: CTNNB1 With Intensive Therapies

Oliver Overcoming a Rare Genetic Mutation: CTNNB1 With Intensive Therapies

When Oliver was just one year old, after many doctor appointments, MRIs, and other tests, he was diagnosed with microcephaly, cerebral palsy, and genetic mutation on the CTNNB1 gene. He is one of about 150 children in the world with this gene mutation. Since it is extremely rare, there is no known treatment to help individuals with this condition. Leading up to his diagnosis, his parents and his doctors did not know why he was experiencing the global delays. Doctors thought a mild form of Cerebral Palsy was to blame for Oliver’s drooping head and inability to sit up. Not until genetic testing of the CTNNB1 gene was completed, did they know how to truly help their son and have a full view of his diagnosis.

Oliver’s Parents’ Mission: Researching CTNNB1

Oliver’s parents have been proactive with his therapy and dedicated themselves to researching the CTNNB1 gene and have been vigilant taking what they learn at therapy and applying it at home. Oliver’s mother found a Facebook group where members had children with the defect on the CTNNB1 gene and began looking into what types of therapies could help her son, while sharing progress with the Facebook group in order to help similar children. In this Facebook group Oliver’s mother introduced Koen’s mother to MPFIC and we have awarded a grant for Koen to receive similar therapies as we provide Oliver.

Seeing Progress With Intensive Therapies

One week before Oliver turned two years old, he took his first few steps independently. Oliver’s parents found an intensive therapy center called NAPA Center in Los Angeles  where they promised unique intensive therapy programs for children. In September of 2019, Oliver’s parents enrolled him in NAPA Center seeking help and hoping for progress in Oliver’s development. After his first three week session at NAPA, he could take 19 steps. 

The Maryam Parman Foundation for Injured Children at this time began helping Oliver by covering a large bill that his health insurance denied from his summer intensive physical therapy, speech therapy, occupational therapy, and STIM therapy at Napa Center.  MPFIC also approved a grant  to fund his weekly hippotherapy at the Shea Center, which is therapy on horseback.  The weekly hippotherapy helps Oliver center himself and improves his balance which helps him walk independently.

Making Strides, Literally

By December of 2019, Oliver was up to 70-80 steps in a row. He attended NAPA Center that month for another session which was covered again by Maryam Parman Foundation for Injured Children. In 2020, when Oliver and his parents had to take their at-home therapy to the next level due to the pandemic, he miraculously continued to make amazing progress. By June of 2020, Oliver began walking almost immediately when he is put down. In July, he hit a milestone – 425 steps in a row!

When Insurance Says No, We Say Yes

Therapies that help Oliver and other children diagnosed with cerebral palsy and CTNNB1 are extremely expensive and insurance often denies coverage as they are considered “experimental.” Maryam Parman Foundation was formed to step in and help in these situations, where insurance falls short. We know these treatments and therapies work from seeing this amazing progress and a family’s financial situation should not stop them from getting all available treatment and therapy for their child. 

As we continue to support Oliver in receiving his hippotherapy at Shea Center in San Juan Capistrano, CA, his new goals are learning to get up independently, walking quick short distances, and eventually total independence. Help us continue to provide Oliver with these important life-changing therapies by making a donation today in his name. We can’t wait to see where Oliver is in a few years from now on his journey to independence. 

Oliver’s parents have a message to the supporters of Oliver, “Thank you for EVERYTHING! You seriously have done so much for our family!” 

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