Extremely Rare: When Rare Becomes Reality with Nonketotic Hyperglycinemia

by Robin Fohl

intubated babyMy daughter, Saige Elizabeth, has a rare condition called Nonketotic Hyperglycinemia (NKH). This is her story.

Saige’s Story

Saige was born July 30, 2010, a beautiful, calm, mellow, and healthy baby girl. Or so we thought until we noticed she was extremely lethargic, not feeding, and within a few days slipped into a coma. Saige had X-rays, CAT scans, MRIs, EEGs, EKGs, four spinal taps and more as she laid there lifeless with tubes, wires, needles, electrodes, breathing tubes, and feeding tubes attached to her precious little body. Something was obviously wrong, and she had MDs dazed and confused as they continued to search for the cause of her condition.

Who would have thought the coming week we would be told our baby would only have a very short time to live, giving us a diagnosis of NKH?

young girl holding a monkeyDoctors told us if Saige were to live, she wouldn’t make it to three months. They also told us if Saige were to live longer, she would never walk, talk, or go to school and would be extremely delayed.

Nonketotic Hyperglycinemia

NKH, short for Nonketotic Hyperglycinemia, is an extremely rare and incurable genetic disorder. It ranges from mild to severe and there are approximately 500 children affected worldwide. Most pass away, many are severely affected, and very few are mildly affected.

Children with this condition have a problem breaking down the amino acid glycine. Amino acids are natural components of our body. Because glycine is not broken down, it accumulates in the body. Everyone has glycine, but too much causes a toxic buildup and the body is unable to metabolize it properly. The result is a lifeless baby, or a coma state. Glycine is an important molecule in the brain where it has various functions, such as transmitting signals from one brain cell to another. Excessive glycine disrupts the function of the brain. Typical symptoms include seizures, low tone, and severe problems with learning and development. This can profoundly affect a child’s ability to learn and do typical things, such as eating, sitting, walking, and talking.

Saige’s Outcome

young girl in rainbow dressToday Saige is an eight-year-old energetic, happy little girl who lights up any room with her wide infectious smile. Second grade is almost coming to an end. Saige goes to regular school and is in special education classes. She attends inclusion classes as well and gets occupational and speech therapy weekly. Physical therapy is no longer needed because she has mastered most gross motor skills and runs like Forrest Gump. She still lacks fine motor skills and is nonverbal. However, hand Saige her iPad and she will simply amaze you.

Living with NKH isn’t easy. Daily struggles include medications, difficulties with activities of daily life, behavioral issues, more then average doctor visits, bloodwork and more. NKH not only takes a toll on Saige but her parents as well. We stay strong and never give up hope, because one day all our hard work will lead the way to the brightest future for Saige.

Because of current research Saige beat the odds, and with the love of God and many prayers, she is still with us today. Not only is she an angel, she has many looking over her.

Author: Robin Fohl • Date: 6/11/2019

Additional Resources

For more information on NKH, you can visit NKH Crusaders.

About the Author

Robin Fohl a stay at home mom recently retired from 22 years of Physical Therapy homecare. Her husband Kurt is a Delta Airlines Captain. They live in Milford, PA with their daughter Saige.

Reality set in for Robin moments after Saige was baptized, confirmed, and read her last rights. How was she going to cope with the thought of losing her child? Hours turned into days, days turned into weeks, and weeks turned into not only months but years. Eight and a half years later her little miracle showed her mom what living the reality is all about for an extremely rare kid.

Saige is an energetic, happy little girl who loves monkeys, hats, dancing, and music. Her favorite artist and song is Bruno Mars, “Uptown Funk.” She is a social butterfly and loves to be around people. She hopes to meet Bruno Mars and Ellen DeGeneres some day. Wherever Saige goes she lights up the room with her wide infectious smile and brings joy to all who surround her. She is what life is all about.

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