Meet Joey

Welcome to The Fighting Angels Foundation - Meet Joey

Great big hugs, an amazing smile, beautiful eyes, the most infectious belly aching laughs, an amazing spirit and determination all equate to the most beautiful human being you will ever encounter. This is our Joey.

At first glance Joey is like any other typical boy. Pay a little more attention to his need for assistance with all activities of daily living, his inability to speak, his ways of play and interaction with others and you will begin to raise questions to yourself. Underneath all the beautiful things that make up our bright spirited son is a little boy carrying the weight of Angelman Syndrome. Thankfully he will never be able to comprehend what this diagnosis means for him.

'This little light of mine, I'm gonna let it shine...' This song could not be better suited for anyone other than an Angel. Joey has such a way about him and he can light up any room. This is a quality not many possess.

Joey was born at 38 weeks gestation with no complications. He was the absolute cutest 4lb 13oz "old man baby" ever! That Sunday night the light of OUR life was switched on, but little did we know he had a switch turned off and a tiny piece of chromosome 15 missing in his genetic makeup.

Our 1st few days and weeks home were a bit challenging. Not because we were first time parents with a newborn, but more so because of latching issues and 1 hour feedings for something so small as an 1oz. With persistence and creativity he continued to gain weight. These early days at home flew by and at 7 weeks of age came the 1st storm. I was just back to work from maternity leave just barely a week and received a call from my mom letting me know that she had called an ambulance because Joey's body was tense, going into a "C" shape and his eyes were "sort of rolling back".

That day I was beyond terrified. All I could think was "I can't lose my little boy". Little did we know that day would not be the most heartbreaking for us.

From December 30th 2011, just 7 weeks old Joey has been diagnosed with the following - Pertussis, Torticolis, Sandifer Syndrome, Dyspraxia, Developmental Coordination Disorder, and now Angelman Syndrome.

It wasn't until Joey was about 5 months that we started to become concerned about his progression. After each �well visit' with our pediatrician we were always left with this weight of worry I guess you would call it, after being asked numerous questions about his milestones. The word "No" was usually our response to can he do this or that. At times l'�d feel as if I did something wrong or I wasn�t doing enough to get him up and running. 5 months was about the same time that our pediatrician highly recommended Early Intervention. The cost of this program weighed heavily on us, but of course we were going to do this for our boy. Money was not going to keep us from allowing him to get the help he needed.

The details of the early days can go on and on. Fast forward a bit with little to no gross developmental progress and at 9 months of age Joey began Physical Therapy through Connecticut's Birth To Three early intervention program. At a year and 1 month Occupational Therapy began. Followed by Speech Therapy a few months later. Joey started hitting a few milestones and we couldn't be prouder. Still delayed? Yes, grossly, cognitively and receptively, but not to worry...'he will catch up'. Honestly, I don't think it really hit us on how delayed he was until he would play with other children his own age. Our concerns grew, but so did Joey's skills. However, he still was not 'catching up'. At about a year n' 1/2 we started questioning whether or not he had something else going on. This question was always followed by "nope, he doesn't have that".

At 19 months our neurologist suggested a repeat MRI of Joey's brain and genetic blood work. After 3wks of waiting the results came back with minimal information. Our Neurologist wasn't too concerned with the findings. The wait continued on the blood work for what felt like 6 months.

Tuesday, July 3rd 2013 was the day we became parents all over again, but with different meaning, emotions and outlook for our son. I will NEVER forget the loss I felt that afternoon.

A simple phone call from our neurologist with the results of Joey's genetic blood work rocked our world. "Joey has what is called Angelman Syndrome. He has a deletion on chromosome 15. I'm sorry.", explains our neurologist from her muffled cell phone. Of course my response is, "what does this mean", and I was basically told he will never catch up to his peers. There are severe intellectual disabilities that come with Angelman Syndrome. Still at this point it wasn�t clear to me what this meant for Joey. You'd think there would be a better explanation from a pediatric neurologist.

We learned more on our own over the next few hours, days and weeks post diagnosis from you tube, social media, and finding our new Angelman Family that we never knew existed.

Every single day we are reminded that our son has a life altering disability, but we refuse to accept that 'HE WILL NEVER'. Joey is beating the odds every day and continues to rewrite the textbooks as do other Angels his age and older. The possibility of a cure is not unimaginable. Together with our family, friends, funding research and HOPE our son will one day have a voice, walk and be an asset to the world. He will beat the odds because we BELIEVE he can!

We will continue to let Joey shed his light and make this world a better place. In his 2 years on this Earth he has made such an impact on others. My husband and I are truly blessed and better human beings because of Joey and we could not be any prouder to call him our son.