Raegan was our first born. Everything was new to us, from newborn struggles w feeding, torticollis and growth delays, to gross motor and other developmental delays. We were lost. I took any and all advice from our pediatrician early on.
A geneticist was one of the first specialists we saw and we
went through the motions ....blood work....no answers,
another year and new concerns as she began pre school. Raegan had a few physical characteristics of a genetic disorder. She had a high arched palate, delayed closure of her fontanel, a single palmar crease, and short stature, and yet every and all tests came back with no diagnosis. We were extremely frustrated and we gave up. It was not until she was almost 5 years old (over two years since her last round of genetic testing) that a neurologist who had conducted an evaluation through her school suggested we go back to genetics for "one more test." To rewind a little, when she was 3 and it seemed all testing led us to a dead end, the geneticist had told us there was "one more test" we could do. It was a new test that allows them to dig deeper into the DNA. To be honest, I had so much doubt by then. I felt they just wanted to try their new technology on my daughter and we would end up right in the same spot just worrying for weeks or a month and still have no answer. Well fast forward and at 5 years old we did the test using saliva swabs from Raegan and my husband and I and received the KBG diagnosis. Neither my husband nor myself were carriers.
Right from the start a wonderful teacher saw my daughter at 2 years old at the school with my sister picking up my nieces. She mentioned the special services pre k in town and explained they will evaluate any child. We were fortunate to have my daughter in special services from the time she was 3 years old! She has received O.T., P.T. and speech. She currently also sees a teacher of the deaf twice a week. I can't say enough good things about all the educators involved in my daughter's progress. Raegan aspires to be a teacher some day, and loves to pretend she already is
It can certainly be tough at times to work a full time job, and do part time work, while managing doctors and specialists appointments. I'm fortunate to have an understanding employer, and my husband for support. I am always wondering how others do it who have MORE appointments and less support. We are also fortunate to live in an area with access to the best specialists, many of which are affiliated with Hackensack University Medical Center. In the early years however, our insurance was not so great and we struggled to find in network specialists. I remember the particular struggle with physical therapy and our insurance only covering a few visits at a time. As a first time mom, I had no idea what Early Intervention was, but I quickly learned and that was a life saver!
Having no diagnosis for your child while you bounce from one type of specialist to the other to tackle health issues that all seem unrelated is a frustration that only those with the experience can fully understand. Raegan was 5 and we had been through quite a bit by then. She was now settled at school and getting all the services she needed, but I wasn't at peace because we didn't have the "why." When we got our answer my initial reaction was complete shock and worry. It took a few days to digest it and get to the next phase. That 2nd phase involves MORE specialists, wanting to check off every possible box and make sure we had done all we could at that time to make sure she's "ok". Then the immense relief and gratitude sets in. Having a diagnosis and a new community of families to connect with has been an incredible gift. I will always be grateful for the timing of the news. All the natural fears a parent will have when they hear "your child has a very rare genetic disorder" were countered by a supportive group that gets it and pictures of adorable smiling kbg faces of all ages. Some days are harder than others, and there will always be new challenges, but every day we feel extremely blessed to be the parents of our one of a kind KBG princess Raegan
Jenny Schmitt, mother of Raegan Furnari, 6 years old from Ridgefield Park, NJ
Everyone has a story to tell, here's some of ours. Whether diagnosed early or diagnosed decades later, each KBG story is as unique as their fingerprints (yes, we do have fingerprints).