Families tell their stories

In celebration of the many successes of the Iowa Newborn Screening Program, Lab Link asked families for updates on some of these outstanding children. We asked, “Where are they now?” and moms and dads answered.

A family circle

Brody (left) attends afternoon preschool and loves running fast, playing with blocks and climbing on playground equipment. Brooke gives big smiles, laughs out loud, snuggles and loves watching her brothers play. Eli likes reading books, coloring, playing with trucks and getting dirty in the sandbox.

We feel fortunate that our children are healthy, active and can live a normal life like any other child. Taking the vitamin supplement biotin every morning is not a big deal and is just a regular part of our day. In fact, our son Eli without BD often asks if he can have biotin, too.

I often forget that my children have a condition that makes them extra special. We are grateful we know how to keep our children healthy.

Brody and Brooke were born with biotinidase deficiency (BD). Biotin is used in the body to breakdown fats, proteins and carbohydrates. People with this condition are unable to recycle the vitamin biotin and less able to process important nutrients.

Daily doses of vitamin supplement biotin are used in treatment. Biotinidase deficiency occurs in one out of every 60,000 babies.

An Iowa captain

There are no words to express how grateful I am [for newborn screening]. My son probably wouldn't be with us today without it.

Zach turns 15 in November and is active with basketball, baseball and FFA. He just started his freshman year of high school.

Zach was a Kid Captain for the University of Iowa Hawkeye football team. When he was introduced from the 50-yard line during a game, the announcer gave a brief description of MCAD deficiency, the condition he lives with. Among the 60,000-plus fans in the crowd was a father who – several months later – learned that his child screened positive for MCAD, but was later identified as a carrier. When asked if he had ever heard of the condition, the dad said that he had during an Iowa football game.

Zach was the first baby in Iowa diagnosed through the Newborn Screening Program with MCAD (medium chain acyl-CoA dehydrogenase) deficiency just one month after screening for the rare genetic disorder was added to the program.

MCAD is a fatty acid oxidation condition in which the body cannot break down certain fats. This leads to a build-up in the body that blocks conversion of some of these fatty acids into energy needed for bodily functions.

Rah! for the last day of school

Payton (left) is a senior in her fourth year of varsity cheerleading for the football team. She will also cheer for the wrestling team this winter. Max is in fourth grade and loves baseball and video games. Garrett is an eighth grader who loves anything sports.

All are doing an outstanding job in school and are happy, healthy kids.

Payton, Garrett and Max were diagnosed with classic galactosemia, a condition that prevents the body from digesting a sugar known as galactose. This sugar is not converted to energy and builds up in the blood.

The treatment for the condition includes eliminating foods that contain milk in the diet. Classic galactosemia occurs in one of every 30,000 to 60,000 babies.

Four Iowa

Everyone is doing great. And [we’re] looking forward to becoming grandparents. We are blessed!

Colin (front row) is a freshman at Northwest Missouri State taking agronomy and animal science. He is planning on coming back to farm in Iowa. Brandon (second row from left next to dad Jim and mom Donna) went to Kirkwood in Cedar Rapids and is the golf course superintendent at Twin Lakes Country Club and lives about 20 miles from us. Jacob is married to Emily (second row from right, respectively) and are expecting the first grandchild in December. He went to Northwest Missouri State. They are farming with us and live five miles from us. Trevor (back row) is a junior at the University of Northern Iowa and studying construction management.

As infants, these four brothers were diagnosed with Phenylketonuria or PKU.

PKU was the first condition that was detected by newborn screening in 1963. People with PKU cannot break down an amino acid known as phenylalanine, which is found in protein. Treatment includes a diet that restricts foods with protein and artificial sweeteners.

Brothers in the spotlight

Jonathan (left), 10, enjoys football, basketball, baseball and swimming. Joshua, 12, enjoys football, basketball, soccer, mock trial and swimming.

Jonathan and Joshua have traveled to DC to lobby at the federal level, met with state legislators, been interviewed for articles, represented the newborn screening community in celebrations and helped their family advocate for those with congenital conditions.

The brothers were born with PKU, which affects one of about 15,000 babies in the United States each year.

All things Lego and McStuffins

Zay is 5, loves Legos, riding his bike, playing basketball, playing on the IPad and doing anything that involves art - coloring, painting, drawing, etc.

Ellie is 3 and loves babies. That is definitely her #1 toy. She also likes swinging on the playground, riding her scooter and playing doctor like Doc McStuffins.

Zay was born with PKU and Hypothyroidism. Ellie was born with PKU.

The building block of protein known as phenylalanine builds up in the bodies of people who have PKU. A low-protein diet is used in treatment. Hypothyroidism occurs when the body is unable to produce enough thyroid hormone for normal metabolism, growth and neurological development.

Treatment often includes daily doses of levo-thyroxine. One in approximately 4,000 babies born in the United States each year is diagnosed with hypothyroidism.

Newborn screening is considered one of the most successful public health initiatives. The Iowa Department of Public Health (IDPH) is the administrator of the program and works in conjunction with the University of Iowa Children’s Hospital and the State Hygienic Laboratory to carry out the nationally recognized program.

Additional information about newborn screening is available on the websites of the Association of Public Health Laboratories, Baby’s First Test, Hygienic Lab, IDPH and the University of Iowa Children’s Hospital.