Fighting For Jillian
Jillian left the hospital two days after a normal birth, but one day later she had to be admitted into the Neonatal Intensive Care Unit for hypothermia (temperature 93). Doctors immediately began testing her to try to figure out what was happening. Jillian’s dad, Bruce, refers to this as "the million dollar workup." Tests included MRIs, CT scans, ultrasounds, blood tests, and metabolic tests, all of which proved to be negative.
Jillian was discharged but continued to have difficulty. She did not develop like a normal baby. She was "floppy" (hypotonia); she could not pick up her head; and she had spells where she would scream, become very rigid, and her eyes would roll up. These spells would last anywhere from one to eight hours. Jillian also continued to have problems maintaining her temperature and great difficulty sleeping.
Jillian’s parents never gave up. At age 6 months Jillian was finally tested for a pediatric neurotransmitter disease. She was diagnosed with "aromatic L-amino acid decarboxylase deficiency" (AADC). Unfortunately, children with AADC may not respond well to treatment. Jillian has tried multiple medications without success. She is now a beautiful 7-year-old girl who is cognitively aware, but whose motor function remains at a 2-month-old level. Jillian’s parents continue to work tirelessly to find better treatments for Jillian. They started the ALADD Foundation and are Board members of the PND Association.
So where did the name ALADD come from: At first when Jillian was diagnosed we had a difficult time pronouncing aromatic L-amino acid decarboxylase deficiency, at times it was even difficult remembering how to say it as well. So we began using the acronym for Aromatic L-amino Acid Decarboxylase Deficiency (ALADD) for all literature and reference. The doctors quickly pointed out that ALADD wasn't the right term and it should actually be (AADC), nonetheless if you try to say AADC as a word it's almost as hard as saying aromatic L-amino acid decarboxylase deficiency, thus ALADD became the laymen's reference to this disease.