Diagnosis: Duplication 14q32.33
Diagnosis: Duplication 14q32.33
Vanessa was a perfect normal baby up until her second birthday. At her two year well child check-up the doctor discovered her liver felt enlarged and ordered lab work. It came back showing that her liver enzymes were elevated at triple of what they should be. We were sent to a children’s hospital in Cincinnati, Ohio where we were told it was genetic related and so our journey began. Vanessa went through five years of genetic testing as well as a liver biopsy which showed she had Non-alcoholic steotohepatitis (NASH). Her official diagnosis is: duplication 14q32.33, OCD, ADHD, Bipolar, Agorophobic, Mental retardation, hypotonia, austigmatism, Patent Forman Ovale, NASH, Insulin resistant, asthma, and Poly Cystic Ovarian Syndrome. She is now on medications for anxiety, asthma, acid reflux, and allergies.
Jacob let us know something was wrong before he was even born. While I was pregnant with him my AFP test came back abnormal so we knew something was wrong with him. At that time we were still undergoing genetic testing for Vanessa. Jacob displayed signs at birth. He would not allow anyone to touch him except for me, he cried all of the time, and at 9 months he was hospitalized for RSV. He was hospitalized again four years ago for vomiting blood. His diagnosis are: Chronic asthma, ADHD, Autism traits, hypotonia, learning disabilities, developmental delays, mental retardation, wakened immune system, and Atrial Septal Defect. He has had physical, occupational, and speech therapies. Jacob did not walk until he was one and a half years old and did not talk until he was over a year old. Jacob takes daily medication for asthma, nebulizer treatments, ADHD, and allergies.
In 2008 we finally received a diagnosis when both kids had CGH ARRAY test. Both have the same duplication on chromosome 14q32.33. They are the only known case in the entire world. So far no one has been able to tell us anything about this disease except that it effects the main organs. I have contacted genetic doctors around the world and they all agree that this disease has never been seen before.
We need to find someone out there that either has this or knows about it so that we know what lies ahead for Vanessa and Jacob. We need someone who is willing to research this disorder. We struggle every day with the fact that we have no clue as to what our children are facing. A simple thing like a stomach bug can and has landed us in the hospital for eight days. We need answers. We need to know what the future holds. As a mother I refuse to just accept that no one knows anything about this disorder that has taken control of my children’s lives. There must be someone, somewhere that knows something and I will not quit until I find that person.
Our greatest problem has been in finding adequate doctors who knows or is willing to research this disorder. I feel that Vanessa and Jacob has not been given a fighting chance. Vanessa is a very strong, emotional, and talented girl. She loves to sing, draw, and write stories. I call her my drama queen. Jacob is my rebel. You will not tell him he can’t do something because he is going to prove you wrong. He smiles all of the time and has a smile that can brighten any bad day. They have taught me to appreciate the small things in life. To count every day as a blessing and not to take life for granted.
Our family needs research. We need someone who can do research on this disorder so that we can finally have answers.