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5 months old baby diagnosed with rare congenital disease

Earlier this year Sara Parker was third time pregnant with a baby boy. Derek Parker, the father of the baby was going through financial hardships due to black jewel bankruptcy. After having the ultrasound reports the doctors told them that the belly of the baby was 40 weeks developed. However, the baby was a 37-week-old old, a typical sign of Wolman disease.

Eventually, after the diagnosis, the baby (Stryker) was born on May 8, 2019. Soon he was having the abdominal discomfort. After consulting many doctors and having several lab tests, the couple came to know that Stryker has a large liver and spleen. These symptoms are of Wolman disease, which is an extremely rare condition. Other symptoms of this disease are poor weight gain, jaundice, low muscle tone, diarrhea, vomiting, anemia, poor nutrient absorption from food and developmental delay.

Lack of enzyme impaired the metabolism of fats

It was a congenital disease that occurs due to mutations in the gene LIPA gene, which controls the activity of an enzyme. The victims of this disease have a low survival rate depending on the type of disease. It is rare, fetal and an autosome recessive disease. The reason behind Wolman disease is a deficiency of an enzyme, lysosomal acid lipase (LAL-D) that works in the metabolism of fats. A lack of this enzyme impairs metabolism causes the accumulation of fats and calcium in a certain body part. The Deficiency of enzyme is only treatable through the enzyme replacement therapy.

It is an extremely rare disease with a prevalence rate of 1-9/10000000. There was only 50 reported case of this disease and Stryker was 51st case.

For the treatment of the baby, the couple moved from Lexington to Cincinnati every week. Parker said that the doctor told him that the babies with this disease live until their early childhood and then die due to any organ failure.

Treatment of baby with a technique- kanuma

The doctor started the treatment with kanuma, which uses an alternate through infusion to replace the enzyme. It restores the activity of the lysosomal enzyme and lowers the fat accumulation in the body. The father of this baby shares that every Monday baby was the infusions day for Stryker. This six times infusion was the ultimate solution for his survival. After having many weeks, the doctors were still unable to find a vein in his body. So a port was injected into his head and IV infusions were given through this port to run the fluid directly into the artery.

Parker said that it is painful to see your child suffering from this, how GOD can take this baby away who always has a happy smile on the face. He added that it was a really hard time for his family, and he does not want his family to suffer alone. But it’s difficult for us going up together.

Also read- Alzheimer’s Disease Linked to Irregular Sleeping Patterns

During all this time Derek Parker was jobless and was unable to pay for the medical bills. His family was going through emotional trauma and did not know what to do next.

People gave them handouts to help his family in this very hard time. Soon the treatment will shift to the town, Lexington, so there will be a slight relief for them.

The family has set up a GO-FUND-ME account for Stryker. The couple wants to thank the community for this much support and love they have received. You can go to the site (www.gofundme.com ) and visit it to give them a helping hand.

 

 

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