Rare genetic diseases in children

There are many types of genetic diseases, such as genetic skin diseases and genetic heart diseases, but we have never seen rare genetic diseases. This disease is hereditary and extremely rare, so it is impossible to cure it. Rare genetic diseases in children have a great impact on the child's body and the family's body. Let us learn some relevant knowledge about rare genetic diseases.

A mother in Arizona, USA, who suffers from a rare genetic disease, has adopted four children with the same disease. (Image source: CBS Interactive Inc.)

Kristi Smith, 36, was born with phenylketonuria (PKU), a metabolic disorder that prevents the conversion of phenylalanine (PA) to tyrosine due to an enzyme defect in the phenylalanine (PA) metabolic pathway. This causes phenylalanine and its ketoacids to accumulate and be excreted in large quantities in the urine.

She had always wanted to have children, but after she learned that her child might have complications such as birth defects, she and her husband, Matt, decided not to have children. They turned to looking into how to adopt, and found that children with PKU in China were in a very difficult situation.

"In China, it's expensive to treat the disease, and they don't have insurance," Matt told InsideEdition. "Some kids with PKU are abandoned, so when we saw that, we thought, 'We can take care of them, we have experience with this,'"

People with PKU must follow a low-protein diet that does not contain phenylalanine and drink special protein formulas to get their daily intake.

Even in some states in the U.S., it is difficult for families with the disease to obtain insurance that covers the necessary medical foods and formulas required for this disease.

Through an adoption agency, the couple found two 2-year-old boys with PKU in China.

In May 2015, the Smiths brought their two sons, Andrew and Luke, home from an orphanage in China.

Thankfully, the orphanage where the children were staying knew about PKU, as the disease, if not properly cared for, can lead to intellectual disabilities, epilepsy, and behavioral and psychiatric problems.

Just as they were adjusting to their new lifestyle, Kristi Smith met an 8-year-old boy with PKU who wanted to adopt.