People who live with rare diseases have found that it is often difficult to get a diagnosis. Doctors look to common issues before they consider diseases that affect an extremely small portion of the population. Ryder, who is now seven years old, has dealt with this experience herself. It took over three years for Ryder to be diagnosed with asparagine synthetase deficiency disorder after exhibiting symptoms and her first hospital visit at one year old. Ryder’s mother has spoken out about the journey to a diagnosis and how thankful she is for her daughter and the doctors who helped them along the way.
About Asparagine Synthetase Deficiency Disorder
Asparagine synthetase deficiency disorder is a recessive condition that causes neurological problems that begin soon after birth. Both parents must pass down a mutated version of the ASNS gene, which makes an enzyme called asparagine synthetase. It is necessary for converting protein blocks into amino acids. These amino acids are a part of building proteins, breaking down ammonia, and making neurotransmitters. While the exact effect of the amino acid on brain cells is unknown, it does affect them in some way and causes the symptoms of this disorder.
One of these symptoms is microcephaly or small head size. Other symptoms include both physical and mental delays in development, which can affect the ability to walk, crawl, sit, and communicate verbally and non-verbally. As this is a pediatric disorder, children do not usually reach normal developmental milestones. If they do, they lose those skills. Exaggerated reflexes and weak muscle tone are also symptoms of asparagine synthetase deficiency disorder, which leads to paralysis of the arms and legs over time. Seizures are also common with this condition. Diagnosis of this disorder is difficult, as there are only a little over twenty cases in medical literature. In order to confirm a diagnosis, genetic testing is necessary. Treatments for this disorder are supportive. Physical, occupational, and speech therapy often help children, and there are drugs that can help with seizures.
Ryder’s Story
Ryder was born in California in 2012. Her family moved to Ohio, and they noticed that she was not reaching the developmental milestones that she was supposed to. After a visit to Cincinnati Children’s Hospital, her family discovered that was because of volume loss in the white matter of her brain. Soon after that, Ryder had her first seizure. The doctors gave her an emergency medication and a plan in order to deal with the seizures, but they continued to happen.
Before she turned three, she was enrolled at the Perlman Center at Cincinnati Children’s Hospital in order to help her develop and reach milestones. She spent two years in this center, still without a diagnosis. It was not until Ryder was four and a half years old that her doctors diagnosed her with asparagine synthetase deficiency disorder after a whole exome sequencing test. Now Ryder is nearly eight years old and has slowly began to hit milestones.
At age six she began to walk independently and is now able to use an iPad to communicate. She goes to school, has run a 5k, and has been seizure free for four years. Her mother has expressed her thankfulness for all of the help that Ryder has received along the way, whether that is from her family, doctors, teachers, or others. She also spoke of her thankfulness for Ryder, “the biggest part of [her] heart.”
Read Ryder’s story here.
