2 Weeks Before the Birth, Doctors Discovered That Her Infant Has Not Grown
Although Australians Jakob Lang and his twenty-three-year-old spouse Jaime Jenkins were eagerly awaiting their firstborn, the ultrasound indicated something was wrong. The young, hopeful couple continued planning for their future even though they wondered what the issue was with their unborn daughter. Jaime was confronted with the cruel truth that her unborn infant has not grown any lung tissue only a few weeks before she was due.
The doctors advised her to terminate the pregnancy, which she couldn’t since she could feel her daughter kicking plus they had already named her. The new parents prepared themselves for a farewell as soon as Helena came into the world, particularly since doctors thought she had no chance of survival.
However, Helena became stronger against all the odds, surprising both her family and doctors. Jakob and Jaime finally learned the diagnosis of their daughter six weeks later: Helena suffered from an exceptionally rare form of dwarfism. Young Helena endured several operations and evaded death in three separate occasions, spending her initial three months alive in the hospital. Helena’s unique condition needs a lot of time and knowledge, and her parents learned how to provide her with properly care during this time.
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Meanwhile, both parents found out that they carry a similar but rare gene of dwarfism although they are about six feet in height. Because there is a one-in-three chance of getting a child with a similar disorder, Jakob and Jaime are yet to decide on whether they will add another.
It is a bone growth disorder leading to disproportionate dwarfism. According to Columbia University Medical Center (CUMC), this disease occurs in approximately one out of every 25,000 live births and is equally common across both genders.
Mutations in the FGFR3 gene prevent the conversion of cartilage to bone during pregnancy, which causes achondroplasia. The FGFR3 gene instructs human bodies to develop a protein necessary for the growth and maintenance of bones. FGFR3 mutations make this protein overactive, interfering with normal skeletal development.
Achondroplasia is not genetic in over 80% of the cases, but as a result of impetuous mutations in the FGFR3 gene.
However, approximately 20 percent of the cases are genetic. Mutations follow an autosomal dominant inheritance pattern, meaning a child can have achondroplasia after one parent passes on a defective FGFR3 gene.
Children have a 50% chance of getting achondroplasia if only a single parent has the condition. If both parents have this condition, children have:
• 25% likelihood of average stature.
• 50% percent probability of having a single defective gene that causes achondroplasia.
• 25% likelihood of inheriting two defective genes that cause a fatal form of achondroplasia known as homozygous achondroplasia. Infants born with this type of dwarfism usually die within months if not stillborn.
Consider genetic testing before pregnancy if there is any history of achondroplasia in the family to comprehend the health risks of your future child fully.
According to the NHGRI, people with achondroplasia usually enjoy normal and healthy life spans. However, there is a slightly increased fatality risk during their first year of life and potentially increased heart disease risks later in life. You may also have to make a few physical adaptations if you have achondroplasia. These include avoiding impact sports capable of damaging the spine, which does not mean you cannot live a full life.