22q deletion syndrome doesn't define who I am!

22q deletion syndrome

What is 22q deletion syndrome?

     If you don't know what 22q deletion is I always end up saying "google it." There's tons of information on the web about this syndrome. Sometimes saying that is just easier then explaining it because it is hard to explain and there's so much information as well. As I got older that's when I started doing so much research about who I am of 22q deletion. I wanted to know because I wanted to learn about myself of who I am. I love who I am no matter what. I'm not ashamed of myself. I love me for me! 22q is very hard to explain with all the information there is. There's some people out there who can explain this syndrome very well. You can also go on YouTube and get videos of information about the syndrome as well too. Don't be afraid to ask what the syndrome is about or anything because I am not afraid to tell my stories. I will tell my stories forever and always no matter what because I'm proud and blessed for who I am.
This syndrome isn't common. Not everyone knows about this syndrome. Only about 1 of 4,000 people in the u.s is diagnosed with this disorder every year. DiGeorge syndrome is a chromosomal disorder that results in poor development of several body systems. It's a disorder caused when a small part of chromosome 22 is missing. However, almost everyone needs treatment from a specialist in a variety of fields. There is different names for this syndrome such as 22q which I like calling it that because it's easier to say and also called velo-cardio-facial syndrome, DiGeorge Syndrome, Shprintzen syndrome, and craniofacial syndrome. Velo-cardio-facial syndrome is known for Latin words such as velum meaning palate cardia meaning heart and facies meaning having to do with the face.
     Everyone has different symptoms of this syndrome. For example, with me and my son Jayden we only have speech impediment and learning disability. We may have small little other problems such as poor immune systems, teeth, constipation problems, and tummy issues. I have high blood pressure, but I started having that when I was in labor with my son in 2009. I'm on medication for it and probably will be for the rest of my life. Everyone is different in their own way. We all have different symptoms of the 22q deletion syndrome.
     The major symptoms for this syndrome is speech impediment, learning disability, and heart defect. Those are ones that most have with this syndrome. You can have many different symptoms of this syndrome such as heart defects, learning and behavioral problems, speech and hearing problems, mouth and feeding problems, hormone problems, gastrointestinal problems also constipation as well, orthopedic problems such as scoliosis, and club feet, kidney disorders, cleft lip and much more. The heart defects usually present from birth, learning include the delays, mouth problems are the cleft palate and a palate that does not normally. There's ear problems with 22q such as for my example I have small ears and we can get ear infections easily. There's many, many symptoms and everyone is different for who they are.
     22q is diagnosed by blood test, x-rays, Echocardiography, Fluorescent in situ hybridization (FISH) studies, and Chromosomal microarray. When I was pregnant with my son I had the test done because I wanted to be prepared do what was ahead of me and the doctors said that I needed it done already knowing I have 22q deletion syndrome. When I found out that he had my 22q deletion too I cried because I didn't want him to be like me at all. I wanted him to be normal and not to struggle with life. I got my tubes tied that same day he was born. I didn't want to bring any other kids out into the world with problems. I also don't think I could handle it again in my life. It's not easy being a special needs parent or a parent in general. It's hard, but that's ok because life didn't come with instructions not everything comes easy!
     There is no cure for 22q deletion syndrome. For this syndrome you go to doctors who will help you out. I've been to multiple of them myself. I went to Iowa City because they know about this syndrome. No one in my hometown Burlington, Iowa knows about it. Treatment will depend on your child's symptoms, age and general health. It also depends on how severe the symptoms are too. Treatment may also include seeing some specialist which may include Cardiologist, Plastic surgeon, otolaryngologist or oral and maxillofacial surgeon, and speech pathologist, Speech and digestive specialists, Immune system specialist, Neurology and developmental pediatric specialist, Endocrinologist. Other problems you may be concerned of is also low calcium and developmental problems.
     To keep yourself and child healthy keep up to date with your appointments. These appointments are very important to have in life especially if you don't know anything about the syndrome. It's also good to do a lot of research on the syndrome as well. It definitely does help to research it yourself especially if you have it because it'll teach you about yourself. I know it's taught me a lot in life about me. When I got older and researched everything about the syndrome I grew so much with my syndrome. I'm happy for who I am no matter what. I am different and I'm okay with that because I was born this way and there's nothing I can do about it. Do your research and learn about it before judging anyone who has it because we know who we are and we love ourselves for who we are. I'm happy with who I am and nothings gonna change that about me. I feel so loved by everyone who supports, and accepts us for who we are. I love you all very much with all of my heart!