For most people, the word, Vater/Vacterl Syndrome is not a word they use in their vocabulary or even a word that they have heard of, and for my family that was the same, until one very hot summer day on June 18, 1987. It was the day I was born. When my mother was pregnant with me, she was so big that doctors assumed she was having twins, until the ultra sound. Their was just me, but surrounding all around me was all my drool and spit (how appetizing). When I was brought into this world I was diagnosed with Vater Syndrome. A very rare series of birth defects. Lately, I have been inspired to teach people about this and today, I’m going to teach all of you reading what I know and what I have learned about it over the 22 years of my living life that is so much a gift to my family, the people who love me, and even myself. Why am I informing those who are willing to listen, you may ask. Well, because it is very rare and in my opinion, everyone should know about it. Even though it is rare, I think everyone should know because it can happen to anyone who is expecting a child.
The word V.A.T.E.R. is an acronym for five different areas where children can have birth defects.
V – vertebrae A – Anus T - Trachea E – Esophagus R – Renal (which are your kidneys). In some cases, there also may be some cardiac and limb abnormalities, which changes the acronym word to V.A.C.T.E.R.L. A new-born may be born with even just one of the symptoms and not all. Although, if born with one, most likely a child will have multiple symptoms.
About 70% of people born with VACTERL Association will have vertebrae abnormalities. Though, in early life it may cause no difficulties, but can form into scoliosis or a curvature of the spine. About 55% are born with Anal atresia or imperforate anus. This is usually noted at birth and often will require surgery or multiple surgeries in just the first few days of life. About 75% have congenital heart disease. The most common heart defects are ventricular spetal defect (VSD), atrial spetal defects, and tetralogy of Fallot. About 70% will be born with Esophageal atresia with tracheo-esophageal fistula (TE fistula). Though, it frequently occurs as an isolated defect. Also, 15 out of 33% of patients with TE fistula will have congenital heart disease. However, these children may have uncomplicated heart defects, which may not require surgery. About 50% are seen with Renal (kidney defects) and 35% of these people have a single umbilical artery (there are usually two arteries and one vein) which can often be associated with kidney or urologic problems. Defects like these can be severe with incomplete formation. of one or both kidneys or urologic abnormalities such as obstruction of outflow of urine from the kidneys or severe reflux (backflow) of urine into the kidneys from the bladder, which can cause kidney failure early in life and could require a kidney transplant. About 70% will have limb defects that can occur. This can include displaced or no thumbs at all, extra fingers, less fingers, and forearm defects, such as radial aplasia. Those with limb defects on both sides tend to also have kidney or urologic defects on both sides. Those with defects only on one side tend to have kidney problems on that same side. When born with Vater Syndrome babies usually come out very small and have difficulties gaining weight. However, those born with Vacterl association tend to have normal development and normal intelligence.
This syndrome or whatever you may want to call it has estimated an incidence of only 16 cases out of 100, 000 live births. In recent studies, it has been proved to be seen more in mothers who are diabetic (my mother is not diabetic). Also, it is rarely seen more than once in the family and I assure you it is not genetic.
Here is what I know: I know that most babies who are born with this do not live more than a few days. Here is what I know about myself: I was born with vertebrae abnormalities and I’ pretty sure I have scoliosis, today. Before surgery, I had a hole in my heart, I was born without an esophagus and was tube-fed until I was about the age of two. I’m not sure exactly what, but I know I do have problems with my veins (I hate getting shots because it usually takes the nurse several times before they can find a vein in my arm. I prefer getting shots in either my hands or feet.). I have a total of eight fingers and technically no thumbs (when I was little they made my left pinky into a thumb. When I was older, I chose not to get the thumb on my right hand). I also have one bone going through both of my forearms. Last, but not least, when I was born, I could fit in the palm of my father’s hand, now I am about 6 feet and 1 inch tall.
Here is what I also know: Many babies born with Vater/Vacterl association may die or may not lead normal lives at all. Others will live and lead very normal lives, like myself.
I do not want to make this post about me. I hope, hope, hope I can inform at least a few people about this rare symptom,but to give you an idea of how normal life can be for a child who may be growing up with this. I graduated high school in 2006 and I now attend college for Web Design and hope to also get an agree in music and journalism. I can dress myself, cook, clean, and do all the everyday things we do in life. I do not use home row (I type with only my left middle finger), but can type as fast (if not faster) as a person with five fingers and the imposible thumbs who is very used to using the home row. I can play basketball, baseball, and just about any non-violent sport. I’ve had a problem with alcohol and I smoke cigarettes (not that I’m proud of that, just proving how normal of a life I lead). I have many friends and a girlfriend. Lastly, I love, LOVE,, LOVE going to rock shows (I do not do mosh pits) and playing the guitar.
My point to this blog is that I hope I could inform and educate some people about this and even more importantly, if there are parents out there with a new-born who has been diagnosed with this or a confused kid whose trying to figure out why this happened to them and pleading for a normal life, like the rest of the world, keep your head high and do everything needed and possible to fix what you can (or want too) and you WILL lead a normal happy life. I know this because I am living proof.