- Posted January 20, 2014 by
This iReport is part of an assignment:
Living with a rare disease?
Hope for Vanessa.and Jacob
VSD and genital anomalies In some cases, the hands had slightly unusual features, including a single palm crease,
short or tapered fingers;Development was also affected, with moderate delays in mobility, low muscle tone
(hypotonia) and walking achieved in the second or third years In babies with large 14q duplications,
incurving of the fifth finger and overlapping fingers and toes have been seen and one
baby had talipes calcaneovalgus (clubfeet), a positional deformity in which the feet point
outwards and downwards. Among the unusual facial features observed were a
prominent forehead, a prominent nose, a small chin and lower jaw, unusual ears, a
protruding upper lip, a high forehead, fontanelles (soft spots on top of the head) that
were slow to close, downslanting, widely spaced eyes and possibly sparse hair growth.
The palate may be unusually high or narrow.
Vanessa was absolutely perfect when she was born. She weighed 6.0 lbs and was a perfect baby, up until her second birthday when she began having night terrors and would beat her head on concrete. At her second year check up the doctor ordered blood work after he felt of her stomach. The next day we got the call that the labs had shown that her liver was enlarged and her enzymes were triple what they should be. After a liver biopsy at age 5 we discovered she had Non alcoholic steotohepatitis. As soon as the gastroenterologist saw her he told us it was genetic and sent us to a geneticist, that is when our journey began. For four years Vanessa was run through every test there was with no answers. In 2008 she and Jacob was tested with a CGH Array and a few weeks later we got the diagnosis. Vanessa has OCD, ADHD, glaucoma, asthma, patent forman ovale heart defect, astigmatism, hypotonia, developmental delays, mental retardation, wears braces on her feet, weakened immune system, bipolar, and has recurring infections. She is obese through the trunk, poly cycstic ovarian syndrome, widely spaced almond shaped eyes, extra set of nipples, fifth finger clyandactl, and her right side is shorter than her left.
Jacob is our rebel. He knows no danger. Doctors suspect he has autism. He has daily meltdowns, sensory disorder, severe asthma, far sighted, weakened immune, ADHD, development delays, learning disabilities, mental retardation, wears braces on his feet, hypotonia, tires very easily. He was hospitalized in 2010 for vometing blood. He has atrial septal defect and also an aortic anurysm. He has an undescended testicle. Jacob must be monitored at all times so he will not hurt himself by doing dangerous things.
Living with a rare disease in very life altering. The things that were once important isnt anymore, the people that were once around is gone, and you quickly learn to count each day as a blessing. Our lives and daily routine is now filled with rounds of medicine, doctor appointments, therapy, and learning. We spend all free time researching and reaching out to doctors around the world hoping that someone somewhere knows something thar can help Vanessa and Jacob. Our goal is to raise awareness and help others understand what rare diseases do to families.