Meet Klea

Klea was diagnosed at 5 weeks of age with Homocystinuria, a disorder affecting less than 200 people in the world.

Klea was diagnosed at 5 weeks of age with a disorder affecting less than 200 people in
the world.

Klea was born after an easy pregnancy in the middle of the pandemic in a little town in the
tropical jungle of Australia. Four weeks after birth she was admitted to the hospital for just
a check-up since she wasn’t gaining weight as expected. Her condition drastically
deteriorated with seizures and difficulties to breath, which only worsened over time.
Already on life support, she was then transferred to a bigger hospital, where several
rounds of testing began. At 4 weeks of age, she had already been through several blood
tests, anesthetized X-rays, and spinal liquid sampling, among others.

Doctors were able to find which group of diseases Klea’s disorder belonged to, which
allowed them to start a general treatment. While they were trying to figure out what was
the specific diagnosis, Klea was treated for other diseases that worsened her case.
With less than 200 people worldwide affected by Homocystinuria caused by MTHFR
deficiency, doctors could not say much about Klea’s prognosis. Still, they were told she
would probably never walk or talk. Klea took her first steps at 11 months and now uses
circa 50 words at the age of 3. Even if there is a delay in her development, it is nothing
major and she enjoys a happy life!
Klea will be on lifetime treatment, taking her medications 3 times a day to keep the
homocysteine levels controlled.

Homocystinuria is usually caused by mutations in the CBS gene, responsible for the
metabolism of homocysteine, leading to a build-up of homocysteine in the blood.
However, there is a rare form of homocystinuria caused by a deficiency of the MTHFR
enzyme, encoded by the MTHFR gene. When MTHFR encodes for a non-functional
MTHFR enzyme, homocysteine and methionine are not properly processed. There are at
least 40 rare MTHFR gene variants identified at the moment.
It could be that the enzyme is defective, but still somewhat functional, or that the enzyme
is completely inactivated, leading to more severe cases of homocystinuria. Symptoms
include eye problems, abnormal blood clotting, skeletal abnormalities, seizures,
developmental delay, and learning problems.


Meet Klea

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