Their third child Declan, was born three months premature in May, 2004. Yet again, Billy and Bernie were facing the unknown, but thankfully Declan is a healthy, happy little boy looking forward to his fourth birthday. At the end of 2006 Billy and Bernie were happy to discover they were pregnant again, their beautiful baby girl Emma was born on May, 2007. It was a joyful time for her parents and two older brothers.
Emma was a very strong healthy baby when she was born. She had an Apgar Score of 9-9. She was beginning to lift her head at 4 weeks old, but it was at this time her parents noticed some other changes. Emma appeared to have colic for about 2 hours each day and cried continuously during that time. Her parents notified her pediatrician and it was suggested that they change her formula. She was first introduced to a soy based formula and when that did not work she was fed a special formula called Alimentum. Colic remedies were tried but nothing seemed to work. Because of her parent’s previous experience with their other son Brian, they watched her closely and at that time there was no evidence of any seizure activity. At 7 weeks old, her parents noticed she was not sucking very well and she was becoming very difficult to feed. They brought her to the ER fearing dehydration and acid reflux, but the outcome was even worse. During a blood draw she had a very obvious seizure and was admitted to ICU. Her parents, family and friends spent many hours by her side in the hospital. The doctors rushed to figure out what was wrong and did numerous tests on Emma, but these tests have not provided a diagnosis to date. She has endured multiple tests including MRIs, EEG's, blood work and biopsies. To sustain her nutrition she had to have a feeding tube placement. Her diet was changed again, this time she was put on the Ketogenic diet. This diet has been successful with some patient’s that suffer from Epilepsy; Emma was sent home while on this diet and was readmitted to hospital on several occasions. After a couple of months on this diet, the doctors saw no positive results and took her off. Her MRI’s have showed progressive Atrophy of the brain and her EEG reports have showed increased seizure activity.
It is probable that Emma may have a disorder of the Mitochondrial Metabolism. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. Unfortunately so far all her tests on the Mitochondrial DNA have come back normal, but tests continue to be done on her nuclear DNA.
Each day with Emma is a blessing. She is currently out of hospital and being cared for at home. Emma is currently on 3 seizure medications to control her seizures most of which are of the silent type. Emma cannot see yet and moves very little, but she is growing at a normal rate except for her head. Since leaving the hospital she has shown some improvement while on natural supplementation and alternative therapies.
Raising three healthy children is a difficult task for any family, however having one child that is so critically ill and needing 24 hour care is a constant struggle for her parents. Billy has had to reduce his work schedule to help with Emma’s constant care and they have to rely on family and friends to help with their other two children, driving them to school and activities, etc.
Billy and Bernie have had to seek alternate therapy and diagnostic testing within the US and around the World to aid in Emma’s treatment and diagnosis.
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