Elise was three months old when she was diagnosed with two congenital diseases: Jacobsen Syndrome and Paris-Trousseau Syndrome.
Elise’s parents discovered that their baby girl had a kidney defect at a prenatal ultrasound. As if that wasn’t enough of a shock, at her birth they learned that she had also two holes in her heart and a low white blood count. When their baby was three months old, she was diagnosed with two rare diseases: Jacobsen syndrome and Paris-Trousseau syndrome.
Jacobsen syndrome is a deadly genetic chromosomal disorder, caused by deletions in the long arm of chromosome 11 (11q). This is why it is sometimes called partial monosomy 11q. The number of genes deleted from the chromosome determines how severe the disorder is. Paris-Troussseau syndrome is a blood platelet disorder which causes a lifelong risk of abnormal bleeding and easy bruising.
A quarter of children who are diagnosed with Jacobsen syndrome die before their turn two years old. The combination of those two syndromes means that Elise has been living with numerous of health problems including immune deficiency, hypothyroidism, ADHD (Attention Deficit Hyperactivity Disorder) and epilepsy.
When Elise’s family took the decision to move from Michigan to Greensboro, North Carolina, for her father’s work, her parents were quite concerned about the access to health services in North Carolina, as her diseases were very rare.
“Because our daughter’s condition is very rare, we need doctors who keep up with the most recent research and are interested in rare diseases. Elise has a very complex medical history, and regularly sees at least five specialists, so ensuring all of her care is coordinated is of utmost importance”.
At nine years old, Elise has already had seven surgeries. Elise is a social and extroverted child that she has never let her health condition affect her daily life in a negative way. She loves singing and dancing- she even has her own YouTube channel-, and she is devoted to helping children like her.
As Elise continues to grow, she will need further treatment so that she can keep doing all the things that make her happy!
Read more about Jacobsen Syndrome.
You may view the original article here, as published on Duke Children’s website.
Photo credit: Duke Children’s
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