Sibilings Have First Known Cases of Duplication Chromosome 14q32.33

Vanessa and Jacob both suffer from a very rare genetic disease. They are the first known cases of duplication chromosome 14q32.33. They both have low muscle tone, vision problems, weakened immune systems, asthma, OCD, ADHD, and heart defects.

Vanessa has non alcoholic steatohepatitis, glaucoma, her right side is 2 inches shorter than her left, she has obesity through the trunk, and is bipolar. Jacob has Atrial septal defect and an anurysm in his heart, severe asthma, developmental delays, and has mild autism.

We have been told that there is no other case of this illness. Despite what they have been through and continue to go through they are strong children. They keep their chins up and smiles on their faces. They know that they are different from other kids but they are loved for who they are.

Our future is unknown, so far no one has been able to tell us what the future holds but our goal is to make more and more people aware of this illness and hopefully someone out there can tell us something. But for now we have God as our guide and he knows all about it.

Barbara Jennings
Kentucky

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Global Genes Comments

  1. Joan Bueckers says:

    My heart goes out to all you wonderful families!! Keep up the good work. I have worked with disabled children and adults over the years, and they are truly beautiful and gifted in many ways.

  2. Bethany says:

    Hi, how are the kids doing?

    My 10 year old son just had genetic testing done and he has this exact same duplication. He has vision problems, gi problems, neurological problems and has short stature. He is also intellectually disabled and had spina bifuda occulta.

    We feel so lost, no one seems to know anything about this disease.

  3. Debbie gregoire says:

    Barbara, please visit http://www.ring14usa.net. A couple of years ago we established a nonprofit organization in the USA for children with anomalies on the 14th chromosome. We also have a Facebook page, chromosome ring14. There is a larger community of 14chromosome people, even though your children’s’ condition is such a rarity. I have a 12 yr old daughter with ring14. We offer a camp in October near bowling green Kentucky. Perhaps your family can go and you will meet other children and families and find community. Debbie

  4. mellisa marsh says:

    my son has this excat same dulation

  5. Corrina Dahl says:

    Your children are beautiful. My son also has a rare disease, much love and hugs to you all as you go through this journey.

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