Maddie’s Story: Living with Wiedemann Steiner Syndrome

Maddie Nordhoy has a smile that can light up the room. She constantly brings joy to those around her, especially her family. In fact, she is even the inspiration for a non-profit: Maddie’s Miracles. She was born with Wiedemann Steiner syndrome, meaning that she cannot walk, talk, or eat without assistance. Maddie has taught her family a lot about love, inner strength, and kindess. All of these things translate through her smile.

About Wiedemann Steiner Syndrome

Wiedemann Steiner syndrome is a rare genetic disorder that is the result of a mutated KMT2A gene. If inherited, this condition is passed down in an autosomal dominant pattern, but it is typically a sporadic mutation that occurs just after conception. Those affected have distinct facial features, intellectual disability, hairy elbows, and short stature. In order to obtain a diagnosis, genetic testing must be done. Treatment consists of speech, physical, occupational, and behavioral therapy. Special education in school is often helpful as well. As it may be difficult to eat, supplementary nutrition or assistance eating may be necessary.

Maddie’s Story

Maddie Nordhoy lives in Berks County, Pennsylvania with her four siblings and parents. She did not receive her Wiedemann Steiner syndrome diagnosis until a few years ago, but her parents knew from a very young age that something wasn’t right. She lost weight instead of gaining it right after birth and failed to thrive. As she grew up, more symptoms appeared. Without the correct diagnosis, Maddie’s parents were frustrated. It is common in the rare disease community to go without a name for your symptoms for a long time, and it can be a journey that causes frustration, confusion, and sadness.

Fortunately, Maddie was unbothered by this lack of diagnosis. Her family speaks of her smile, kindness, and strength. She is bubbly and happy and enjoys popping wheelies in her wheelchair. When she enters a room, she lights it up with her smile.

Not only are her parents thankful for Maddie’s infectious smile and happiness, but they are thankful that they have the funds to afford her care. Things like wheelchairs, wheelchair-accessible vans, and other things necessary for care are very expensive, and they’re aware that many other families cannot afford them for their children. It is because of this that they started Maddie’s Miracles.

This nonprofit has helped other parents with special needs children. Nicole Chintala is one of these parents. Her daughter Bailey has a variety of conditions, including spina bifida and club foot, meaning she needs a wheelchair. In order to take her anywhere, Nicole needs a wheelchair-accessible van, something that costs upwards of $20,000. Without Maddie’s Miracles, she never would have been able to get one. The Nordhoys surprised Nicole with the van days before Christmas, calling it the “Bailey van.”

Maddie and her family can’t wait to help more people through their nonprofit. They have a walk-a-thon planned for September, and it’s all thanks to Maddie.

Find the source article here.

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