Meet Kara
Kara has just recently been diagnosed with Homocystinuria due to CBS deficiency
Homocystinuria due to CBS deficiency is a rare fatal (but treatable) metabolic genetic disease. It's a inherited disorder in which the body is unable to correctly use the amino acid, homocysteine, one of the building blocks of protein.
Homocystinuria can cause problems for many parts of the body. Infants with homocystinuria may have trouble growing and gaining weight. Eye problems may include nearsightedness and lens dislocation (ectopia lentis). People with homocystinuria can have skeletal problems such as curved spines (scoliosis) and fragile bones (osteoporosis). They can be taller and thinner than their siblings due to these bone changes. Homocystinuria can also cause abnormal blood clots (thromboembolisms). If these blood clots form in or travel to the heart, brain, or other vital organs, they can cause death. Some people with homocystinuria will have intellectual disability, which can range from mild to profound. About half of people who have homocystinuria will also have neurological or psychiatric problems such as seizures, behavioral disturbances, and mood problems.
Despite her diagnosis, Kara's mom says she is Caring, loving and helpful.
She is a competitive cheerleader at CheerForce! Her favorite color is yellow and she wants to be a scientist when she grows up.
Kara's diagnosis was missed at birth and wasn't diagnosed until August 2022! She has not let this stop her and is working even harder at everything she does! She is also a very sweet girl who cares a lot for others. She also helps care for her baby sisters g-tube when mom needs a extra hand.
We, at 7 Pines, love Kara's art submission! Those are some of the prettiest little flowers we've seen! Please tell her what an amazing job she did on them!