Advocacy Following Rare Diagnosis Helped Countless Others

When MaryBeth Grassman was born in 1956, her parents had no idea how their daughter would shape their lives and the lives of countless others. Because of her–and her strong advocate parents–countless infants have benefited from MaryBeth’s experience.

Her father said he knew it was her purpose in life.

MaryBeth carried a rare, inherited disorder at birth called Phenylketonuria (PKU), which can only happen if both parents are carriers of the gene. PKU causes an amino acid to build up in the body. Since it was not diagnosed right away–and not treated–eventually it led to brain damage. But that wasn’t evident when she was an infant. 

As she grew, her parents noticed she wasn’t developing in the same way their older daughter, Marcia, had done. She wasn’t sitting up, was lethargic and sleeping a lot. They questioned medical professionals about it. 

“The doctors told them MaryBeth is just not developing as quickly. Eventually, it became evident she needed to have further testing,” Marcia said.

MaryBeth was almost one when the diagnosis came. Her doctors in her hometown of Des Moines, Iowa had been challenged by her case. When a physician from Johns Hopkins University visited as a guest lecturer, they asked him to visit her. 

“Our pediatrician took him into MaryBeth’s room, and he picked up her diaper and could tell by the aroma that it was probably PKU. He took it to the lab and had it tested, and that’s how we found out,” Marcia said. 

The family learned there were characteristics of PKU, and MaryBeth had some of them. A distinct aroma in urine from an excess of the amino acid was one of them.

“Her characteristics were different from Marcia’s and mine,” said Julie, the youngest of the three sisters. “She had a light complexion, blue eyes and strawberry blonde hair.” The other sisters had dark hair and brown eyes. 

The news sparked her parents to action. 

“They kept pushing and they kept pushing,” Marcia said. “They were advocates early on to make sure their daughter MaryBeth could get all she deserved. But also for others.”

Their advocacy for others took the form of lobbying the legislature in Iowa to make PKU testing mandatory for infants. They were successful. In 1966, PKU testing became routine as part of newborn screening in Iowa. It is also now mandated in all 50 states.

Contrary to the advice of many others at the time, MaryBeth’s parents were determined to keep her at home and give her the life they gave their other children.

“Having MaryBeth made our lives richer,” Julie said. “We appreciated things and didn’t understand anything different. That was our life, having her.”

Like their parents, the sisters were ready and willing to advocate for her and defend her with the ferocity of family. 

“We defended her on the playground, in the neighborhood–whatever it took to let her be active and enjoy life,” Marcia said. “It was a good childhood with the three sisters.”

Around age 13, MaryBeth went to Woodward State Hospital School in Iowa, when she completed the public school special education program. This was before public schools were obligated to provide for children with disabilities until age 21. The sisters said the decision was hard for their parents, but they wanted to do what they thought best for MaryBeth. 

In 1993, when Mosaic (Bethphage at the time) opened homes in Des Moines, MaryBeth was one of the first to come into community services. 

“Within a month we could see MaryBeth start to blossom,” Marcia said. “Two months later, Dad and I went to a celebratory dinner at Mosaic and MaryBeth came all dressed up and wearing earrings and enjoyed the whole evening. Dad and I just looked at one another and thought ‘Wow!’” 

She’s only continued to grow and develop since, the sisters said. 

“We protected her,” Julie said. “Then she was protected at Woodward. We didn’t want anything to hurt her–she had never really crossed the street on her own. To see her grow leaps and bounds has been a testament to Mosaic.” 

MaryBeth still lives in a group home in the Des Moines area with Mosaic. She’s active in the community, spends time with her sisters and has a good life, they said. Marcia noted MaryBeth needs to check her calendar when she invites her to do something because, “she’s busier than I am.”

“We’re thankful to Mosaic for giving MaryBeth the life she has,” Julie said. “I don’t think she really lived until she went there. Mosaic truly understands the whole person. MaryBeth is a whole person and has wants and needs, just like everyone else.”

They understand MaryBeth has a purpose in life. The two sisters have run into people who had children diagnosed with PKU because of the testing. Those children are in successful careers today because they started the necessary treatment as infants. The treatment manages the level of phenylalanine in blood through a controlled diet, which is sometimes augmented with medication. 

“There’s affirmation that MaryBeth made a difference,” Marcia said.