The Stories that Advocated for New Born Screening

The Virginia Newborn Screening Advisory Committee met late last week to determine the fate of Pompe Disease and MPS-1 screening in VA.

Before the vote took place, some families spoke before the advisory committee, putting names and faces to the facts and figures.

Krystal Hayes, a Registered Nurse, shared her and her daughter’s story. When Krystal’s daughter, Haley, was six months old she wasn’t gaining weight the way that she was supposed to. After taking some lab work from her, her doctors sent her to the hospital to be admitted. Two weeks later, Haley received the diagnosis of Pompe disease.

Krystal was told that her daughter’s life expectancy was age one.

Thankfully, there was hope. Treatment for Pompe had been approved just two months prior to Haley’s diagnosis.  She was started on it right away.

Krystal is grateful that Haley was diagnosed as early as she was, and that she was able to start treatment immediately after, however, sooner would have been better. Haley had gone into congestive heart failure before her family was ever aware that there was an issue with her heart and damage done by Pompe is often irreversible.

Haley is happy and social sixth grader now, but her mother has to wonder about the difference newborn screening for Pompe could have made. Perhaps if her daughter had been diagnosed at birth if she would not need her wheelchair. Krystal knows another mother whose child has Pompe whose story is a little different. The mother had sadly lost a child to Pompe disease and made sure to have testing done during her second pregnancy. She was able to get her son diagnosed in utero. This meant that her family and her physicians were prepared. Her baby could receive treatment right away and, now Haley’s age, he is able to walk.

Krystal mentioned other families she knows that have lost loved ones to the disease, and adults who suffered for 20-40 years with misdiagnoses before they learned they had Pompe and could finally begin the correct treatment.

Her story was a strong and poignant testament to the time sensitivity of diagnoses and treatment.

The panel voted unanimously to add Pompe disease to VA’s Newborn Screening Panel.

Two MPS-1 families shared their stories as well.

They bore a lot of similarities to each other. The first family truly noticed something was wrong when at 19 months their son still wasn’t walking. From then on there were more and more symptoms, the family just didn’t know why. Their son suffered from hypotonia, and underwent physical therapy. He had respiratory, orthodontic and speech and vision issues. He was excelling in school, but his second grade teacher expressed concerns to the family when she noticed their son couldn’t sit criss cross on the floor like her other students.

His physical therapist noticed that his arms were remaining bent when he hung from a bar and recommended an x-ray of his shoulders. They then found evidence of a lysosomal storage disease.

At age 10, he was finally diagnosed and began to receive IV treatment. Unfortunately, there was progressive damage that could not be reversed. Now 17, he is still receiving corrective surgeries, for things like hip dysplasia and sleep apnea. He went undiagnosed for over a decade. MPS-1 was something that numerous doctors didn’t catch, and is a once in a lifetime diagnosis for many.

The second family has a 21-year-old daughter with the disorder. Her mother knew that something wasn’t right, long before the doctors did. Her baby had a noisy, labored breathing that made her hesitant let her child out of her arms. At 2 months old, with no exposure to day care centers or the like, the baby got her first ear infection. Then her family noticed a bump on her spine, but the x-rays were inconclusive. The baby’s breathing got even worse and she was sent to cardiology because of a family history of heart issues. She wasn’t developing the way that she should. She was soon labeled as Failure to Thrive. The family pediatrician felt like she was letting the family down. There was something the matter with this baby and she could not find what it was. The baby began to experience a type of reflex, and luckily, demonstrated this in front of a nurse. She began coughing, choking, and turning blue. After GI exam results came back they were immediately sent to neurology. The baby was given a thorough exam, and the family was told to bring her back in two weeks. When the finally received the diagnoses, the doctor had tears in their eyes. The family was initially told to just take their daughter home and “make her comfortable”.

They refused to give up.

They took their daughter for a consultation at Duke, and scheduled a surgery to remove the redundant palette making it hard for her to breathe. With their next baby, they had an amniocentesis performed, so that the baby could be diagnosed in utero. With this child, the family could be prepared. They scheduled for the baby at 12 weeks old.

Both of these families would have benefited from a diagnosis of MPS-1 at birth.

The VA advisory committee thought so too. MPS-1 passed unanimously as well.
Thanks to those who advocated for these additions, and the committee members voting “yes” other families won’t have to wait for years or decades for answers and appropriate treatment.

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