Welcome to Ava's Blog.

Ava was born with a rare genetic disorder, Xeroderma pigmentosum (XP).

A condition that prevents her skin healing from sun damage. 

In this blog I share my stories of my daughter and I, and what

it's like living with XP

 

 

                                                                       

 

Unlike most children, Ava can't spend time in the sun, while she has her days outside, it is still very limited, even with sunscreen. She mainly goes out when going to hospital or when we can afford it, she goes to a shopping mall or indoor kids area where she can interact with other children.  Xeroderma pigmentosum (XP) is a very rare genetic disorder and there is currently no cure, she also has microcephaly (small head size) she has dwarfism and a learning disability. Every day life can be challenging, but we stay motivated and find ways to progress. I just want to share our life stories, so more people are made aware of rare genetic skin disorders and to let you know your not alone.

 

 Ava can't be defined by her skin or mental disorder, her personality and heart is more special than words can describe, making her 1 in a million... And i wouldn't want to change her in any way.  Ava even tho she has mental delays and is non-verbal, Ava is very smart, when around other children she always tries to act like the parent.

 

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We often receive questions about whether Ava was born with freckles. The answer is no. I vividly remember when she was a baby; we had to rush her to the hospital because her face was red and swollen. She was crying loudly, indicating the level of pain she was in. At that time, we had no idea what was wrong, and even the doctors were unable to determine the cause.

Years later, we pieced together that she was experiencing a reaction to the sun. Around 18 months old, she began developing freckles. Initially, we did not pay much attention to this, as freckles are common among some individuals, particularly those with red hair. Consequently, we did not consider the freckles to be a serious concern at first, and they were fewer in number than they are now.

After her diagnosis, we took steps to protect her from sun exposure. However, due to her skin condition, no matter how diligently we applied sun protection, she continued to develop more freckles. Even brief exposure to sunlight causes visible effects. While freckles are permanent, we, as her guardians, use organic products in an effort to lighten existing freckles and prevent the formation of new ones.

Our concern is not with her freckles per se, but because her freckles are atypical, and her skin requires careful management. Additionally, she suffers from extremely dry skin. Despite her freckles, Ava is absolutely beautiful, and her unique features contribute to her individuality.

 

 

Below, I will include photographs of her as a young child and a recent image.

 

Here I discuss how it is to parent a child with a genetic disorder and learning disability, and just every day life topics.
I also hope to try spread awareness of children born with genetic and mental disorders.

 

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