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Get To Know Us

Andy joined our family through adoption and was placed with us in the late winter of 2021, at just three months old.  We knew he would have some medical needs, mainly relating to his hearing loss, but did not know what the future had in store for us.​

 

Andy's development always seemed a little "off" but that is not uncommon with children who are adopted, so it initially did not concern us too much.

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​​Once Andy turned two, we started noticing more concerning issues with his development and began looking for answers.  Through the help of a developmental pediatrician, genetic testing, and rare disease specialists, we learned about his dual diagnoses in September 2023, just about a month before his third birthday.

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 His diagnoses rocked our family to it's core.  While we work to manage Andy's symptoms to give him the best possible quality of life, we are following his lead and facing our future head on with love and compassion.

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Having someone in your life with genetic diagnoses can be pretty challenging for adults to navigate, let alone children. Here is some information and talking points you can use if your child wants to share with you about Andy.

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Andy's Diagnosis

Andy was diagnosed with two different, both highly rare, neurodegenerative genetic conditions,  Sanfilippo Syndrome and Batten Disease.

 

 Both conditions are terminal.​ 

 

According to his medical team, he is likely the  only documented person  to have both these conditions simultaneously.

Learn About It

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Batten disease, or Neuronal Ceroid Lipofuscinosis (NCL), is a family of rare diseases caused by autosomal recessive genetic mutations resulting in the body.

 

There are 13 known forms of Batten Disease.  Andy has type 5, a rare subtype of this already rare disease.

Imagine Alzheimer’s and dementia, but in children. In a nutshell, that’s what every family of children with Sanfilippo Syndrome faces.

 

There are 4 main categories of Sanfilippo Syndrome.  Andy has type 3C, a rare subtype of this already rare disease.

NORD advances practical, meaningful, and enduring change so people with rare diseases can live their fullest and best lives.

 

Every day, they elevate care, advance research, and drive policy in a purposeful and holistic manner to lift up the rare disease community.

Andy's Legacy

Andy loves playgrounds and swinging, but many playgrounds are not designed with children with special needs in mind.

 

Because of this, our goal is to build a truly inclusive playground in our community.

 

This most likely will not happen in Andy's lifetime, but we hope it will be a legacy of how loved he is.

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