The Woman With Unusual DNA: Swyer Syndrome – Jeanne Nollman

The Woman With Unusual DNA is intresting doucomentary about woman name Jeanne Nollman who struggle with mystery
disease that affect her life and identity,


Through interviews and dramatic recreations she discover the truth about her disease

in this documentary we discover that Every year, millions of Americans fall prey to real-life medical mysteries ailments that go undiagnosed or misdiagnosed for years even the medical experts are
struggles to understand their patients conditions in result the patients are given misleading information that can affect their lives

in Jeanne case she discovers after many tests that her body have agenetic disorder that give her XY chromosome in result she struggle
to produce hormones essential for puberty wich can affect her future
and her everyday life

At age 18, Jeanne’s doctors told her partial truths about her diagnosis.
for many years Jeanne try to get accurate diagnostic about her condition
but her doctor held medical information from her
until she choose to confront her doctor and ask why did he lie?

in another case
Mary is a healthy woman that lives active life she is a mother of two,
when without any warning she develops lung problem.
She suffers shortness of breath, spotted vision, pain in her shoulders, and sensations of bubbles going down her back and is diagnosed with a rare lung disease

What Is Swyer Syndrome?

Siblings (and sometimes only one of them) born to a couple (mother and father) with single gene disorders are in danger of inheriting two copies of that gene. This is known as ‘recessive inheritance’. Two copies of the same defective genes means that they become more than just carriers for the genetic defect, meaning they are affected by it and are usually severely affected. Such children have what is called ‘compound heterozygous’ disease. It is strange that this happens before fertility treatments, because couples who undergo such treatments will most likely be genetically tested together and will probably not pass on their defective genes to any offspring since these are caused by recessive inheritance patterns, which requires both parents to be carrying these genes unlinked.

jeanne and mary story tell us that
many people still struggles with unusual diseases and can’t get accurate
diagnostic that prevent them for living a normal life

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