Well here it goes!
My husband and I got married in 2007. We’re both in the ARMY and in June 2008 we deployed to Iraq. When we came home from deployment we bought a house and started our family by adding a baby girl with my husband’s 3 boys from a previous marriage. After giving birth to my first daughter (Madison), I developed Graves’ disease. I wanted to have another baby at that time but my husband and I decided to wait a year because we chose radiation treatment to treat the Graves’ disease. We waited more than a year because around the same time my husband deployed to Afghanistan. When he came home from deployment we got pregnant again. Much like my first pregnancy I had morning sickness terribly throughout the pregnancy. I saw a prenatal specialist once a month to ensure the baby was growing properly because I had Graves’ disease in the past and was supplementing my thyroid with levothyroxine. The baby was growing right on schedule! Looking back on all of the different things of DUP15 my first symptom came when I was pregnant. Though my first daughter thought my body was her personal playground, this beautiful baby wasn’t as active. I have read that a lot of DUP15 babies were not active while in the womb.
My daughter Madison and Julia have had a connection even before Julia was born. Madison knew from day one that we were having a girl. She went as far to tell us that we were having a girl named Julia Grace with red hair and blue eyes and that she played with her in heaven. We brought Madison with us to the ultrasound and she was right! We were having a girl! We were so excited, my husband and I wanted to name this baby Riley Harper but we said if for some reason she came out with red hair and blue eyes we knew what her name had to be! Well, this princess arrived in this world full term on January 16, 2014 at 5pm weighing 8LBs with bright red hair and big blue eyes! So here I am introducing to all of you, Julia Grace Rumberger!
Julia was just like any other baby, but from day one I knew something wasn’t right. She barely cried and had a hard time putting on weight. I remember people telling me “wow, you are so lucky, she is so good and quiet.” Initially, I did think she was such a good baby and she was. But, I just knew there was more to it. My pediatrician thought the same thing. I had to go back to work when she was 4 months old and we put her in the Goddard where we have our other daughter. We go to CHOP in Mt Laurel NJ and we have Dr Mark Hummel and he is fantastic. He was very encouraging but thought the same thing that we did that something wasn’t quite right. We went to every specialist you could think of and they all said the same thing. They would say she seems delayed but let’s wait and see. At the same time we had her evaluated through the NJ Early Intervention program. She was 8 months at that time. Since then we have had 4 therapists a week for an hour each. Julia has occupational, physical, speech, and learning therapists, they are unbelievable and have brought Julia too many new levels. The Goddard school has been fantastic as well, they implement what the therapist suggest and take extra good care of our princess. In addition to Julia’s low muscle tone and developmental delays she also had a lot of ear infections. So our awesome pediatrician sent us to an ENT. First we started out with a hearing test and they concluded that there were no sound waves bouncing off of her ear drum. Basically; she couldn’t hear because of all of the fluid in her ear. From that point we had tubes put in and a couple months later we went back in for a hearing test. Having a one year old in a hearing booth is a whole new experience. Well, she passed! She could hear! My husband and I started to think that maybe her delays were because she couldn’t hear. The only specialist we hadn’t seen was a geneticist, I put it off because I thought her delays were because of her ears. One day I happened to read an article about a mother who put off seeing the geneticist and turned out that something horrible was wrong with their daughter. I decided I better go see the geneticist.
Well, seeing the geneticist was pretty scary. They say all of these big scary words and measure your child’s features. I walked out of there thinking something must be really wrong. We went down the hall to have her blood drawn and I think I cried as much as Julia did. I did not know that when you are upset your blood won’t come out for a blood test. Poor thing got stuck twice, which made both of us cry even more. The Geneticist told us that it would be 4-5 months before we got the results. Of course right at the 4 month mark I started calling the geneticist to find out the results. Finally, at 5 months on August 6, 2015 I got a call back. I was in the car driving and the genetic counselor asked if I had a minute. I asked them to hold on so I could pull over. They told me Julia had a chromosomal disorder called IDIC15. She told me about an alliance to look up online and said to give her a call if we had any questions. I was in the middle of an inspection at work and thought how bad could it be if they were so brief with their description. Once I got back to work I looked it up and was completely devastated. The diagnosis just didn’t seem real. So many things changed within that second. To see that she may not walk until she is 4 or 5, she may never talk, she will have low cognitive development, seizures, and so many other issues.
It was very overwhelming and at times it still is. So many things ran through my mind; is my daughter going to live, talk, walk, grow, and enjoy life? I wanted my daughters to have a life together that my sister and I have. I grieved for both of my daughters and for my husband and me. Life as we knew it has changed forever. We had a hard time telling people about this, almost as if we say this it is true. A part of us didn’t and still doesn’t want to believe it is true. We are scared and worried for our Julia. At the same time we are encountering all of those emotions we are also so happy to be blessed with our daughter. The support we have encountered has been overwhelming from everyone. We are so lucky to be surrounded by so many supportive friends and family. We enjoy every moment with her, Madison, Sam, Charlie, and Theo. There are so many unanswered questions with this DUP15 and we have learned that there is no set path for our little “Duppers.”
Since August, we have revisited all of our specialist and have gone to the Boston’s Children’s Hospital to visit the DUP15 clinic. Dr Theibert was so supportive and made us feel better about our diagnosis and prognosis. Since our diagnosis Julia has started walking and is much more verbal. She doesn’t talk yet but she is vocal! Our therapists, school, doctors, and family are all working together and supporting her 100%! We will never give up on our children! We are excited and scared to go through this journey together!