Vater Syndrome

Posted: May 9, 2010 in You Say You Got A Problem, Kid: Rants

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.

Vater Syndrome

A new-born with Vater/VACTERL symptoms

references:
VACTERL Association
V.A.T.E.R. Syndrome

Comments
  1. becca says:

    Hello from Benjamin…a VATER friend who is 3-years-old today. :)

  2. Emmy Daniels says:

    Good post! I found it when I searched for info on VATER. Four years ago I gave birth to identical twin girls, one of which had VATER syndrome. She only lived for 5 hours. It is not something that most people have heard of; in fact, I had to explain it multiple times to nurses and doctors during the two following pregnancies when they saw in my medical history that I had lost a child. Thanks for explaining it so clearly!

    • Brandi says:

      I am 25 and I was born with Vaters Syndrome as well. Emmy I too have a identical twin sister and she was perfectly fine. Did you have any testing done as to why/how one twin got it and the other didn’t?

      • jebjeb says:

        No, I had no testing like that done. Before my mom ever got her first Ultrasound they thought she was having twins because she was so big, but they later discovered she was not having twins, it was just me. I have no twin, I was never given any tests like that, and I have no idea how that can happen. That’s new information to me, I didn’t know that could happen. Sorry I couldn’t be much help.

  3. Donna Franks says:

    Thanks for posting this information. I had a grandson born in September 2010 and was just diagnosed last week with Vater. He had both thumbs missing, short bones in this left arm, a severe spinal deformaties. He is one happy baby and has brought much joy to our lives. He will undergo surgery soon on his back one of many I’m sure. Thanks for all of your information. It was very helpful.

    • jebjeb says:

      He was just diagnosed a week ago? That’s odd, but I’m sure there are MANY professionals out there who have never seen Vater symptoms or have heard of it before because it is that rare. Nothing can keep happiness from even a baby when they have such unconditional love and support backing them up along the way:) Sadly, yes there will most likely be many surgeries to come even after the first and he will be in my thoughts throughout them all. Good luck to you, your family, and your grandson. I know this boy is a very lucky boy to have the loving family he does to always remind him of how special he is. I’m glad my information was of help, that was my main goal in the post.

  4. samantha says:

    Thanks for posting this I gave birth to a beautiful boy on july 7 2008 hes was diagnosed with vater synbrome at birth he has the heart kidney anus and spine problems he had multipal surgerys hes still seeing his doctors once a year but hes a heathy 3yr old thanks

    • jebjeb says:

      He is a lucky boy and great to hear he is in active, healthy 3 year-old. Good luck to him and your family to what lies a head. He’s happy and healthy, only good things lie ahead, now:)

  5. Crystal says:

    My daughter is 7. We had her birthday today. She is one of four girls. Her name is Alexis , she is brilliant and has jokes all day. Today was an icarly day. Lol. She has blonde hair blue eyes and she tells me she loves me everyday with hugs and kisses. Oh, she also has vacter. Born with a perforated anus (4 surgeries had a colostomy) 4 open heart surgeries, 1 spine with tethered cord. She is completely the center of our family. She goes to the local hospital and talks with older patients about their heart surgeries and what to expect. She tells them it’s going to hurt a little but the iv is the worst lol. God blessed our families with these children to teach us to love so deep. I am thankful for having these amazing 7 years and can’t wait o see her gro and have children of her own.

  6. Johanna says:

    Im so happy I found this blog. My daugter is 7 weeks old and was born with VACTERL. She has had a TEF/EA repair, she has hemi-vertebra and scoliosis, mild cardiac and renal issues that are not having a negative impact on her life and she has no left radius or left thumb. She is gettig a G-J tube next week.
    It is hard to find older people with this association and even harder to find people with limb abnormalities. It is really nice to hear that you are doing so well and it helps me with my internal struggles of worrying about how my daughter will handle her own struggles through life. Thank you so much for your blog.

  7. Hello,i am Angelina i am a 20 year old female looking for some Vater
    Syndrome support.

    I was born with the Vater Syndrome but have never met or spoken to anyone with
    the same condition as i, would love to chat with some people who know exactly
    what i am going through.

    • Crystal says:

      My daughter is 7 with vacterl syndrome. I’d love to speak with you. My email is akkcrystal@gmail.com. Thank you and bless you sweetheart. Out of all of my 4 daughters Alexis my 7yr old is the most stubborn strong willed and actually the leader of the pack. Lol. She is our blessing.

  8. jenn says:

    Thank u for ur awesome story. My son now 10 was born with VATER. He was diagnosed at birth. He has had over 20 surgeries to date. He was born with kyphosis/scoliosis (final fusion surgery to happen next month) and imperforated anus (this has been corrected in a three part surgery-which started the day after he was born up until he was one. He is our super hero in our family. And one of the bravest. Because of his final fusion surgery happening next month everyone is on pins and needles…happy, sad, mad…..it’s been tough.

  9. jennamarie86 says:

    My daughter wasn’t diagnosed with vater syndrome but the doctors ?? think that’s what she has…. I think she wasn’t diagnosed with it because she doesn’t have all of the symptoms. She had a small hole in her heart which closed off when she was a couple weeks old. In the ultrasound they knew her hand wasn’t shaped properly, not both, just one and that her feet may be clubbed…which both were. She has a mark above her bum…it just looks like a tiny little skin tag and part of her spine didn’t connect properly and may cause her back to curve,which so far, it hasn’t. She had to have her thumb removed on her hand that wasn’t shaped “normal”. It sounds to me like Vater Syndrome is what she has…. I don’t know why the doctors write “Vater??” though on paper…I am also a Type 1 diabetic and believe my disease is what caused her health problems unfortunately. She is wonderful, energetic little girl.

    • jebjeb says:

      I have to start off by saying, it’s tough that even in this day in age there is little known information on VATER, but it does sound like she could very well have VATER because some of the symptoms she has does associate with the birth defect, but some I have never heard of, but with saying that, that’s also not uncommon since symptoms very from person to person with it. It always depends how severe or not severe it is. I was born with medium VATER I guess you could put it. I have one bone going through my arms, four fingers on each hand, no thumbs (when I was little they made my left pinky into a thumb. My right hand still has no thumb, but by the time my parents wanted to fix that I was old enough to make my own decision on it and I was not for it. I was born the way I was and I wouldn’t have it any other way.), I have scoliosis, I was born with a hole in my heart, and my right ear is bent inwards. The reasons it’s called VATER is because it’s simply an acroynem for the symptoms.
      V – Vertebral anomalies
      A – Anal atresia
      C – Cardiovascular anomalies
      TE – Tracheoesophageal fistula
      R – Renal (Kidney) and/or radial anomalies
      L – Limb defects
      Also, I will tell you right now, don’t think this happened because of some health issues you have or something you did when you were pregnant with her. It’s not known how VATER is caused, it just kind of happens, I guess. My mom had no health issues, doesn’t smoke, drink, or has ever done drugs and the youngest out of three kids, it just kind of happened with me. Although, she believes, when she was pregnant with me her work was doing major remodeling and cleaning, so she thinks it has something to do with breathing in some of the strong chemicals throughout the store. Any who, I guess the best advice I can give you is this: if you haven’t, took your daughter to a top notch Children’s hospital or a children’s specialist. I don’t know where you are, but I’ve lived in Wisconsin my whole life and American Family Children’s Hospital in Madison, WI. has always done wonders for me. When I was born, as a little kid growing up, and even as a young adult when I got sick pneumonia twice within a span of four years. I hope this helped at least somewhat. Whatever may happen, I know you’re little girl will get through this and come out more strong and level headed than all those other “normal” kids. Good luck to you, your family, and your strong little girl. :)

      Jenny.

  10. Stephanie says:

    This is an awesome post! I am 33 and have Vaters. I’ve had doctors look at me like I’m crazy when I say what I have. My OB/GYN had never heard of it. When she looked it up, she sent me to a high risk OB. I have have been very lucky as I don’t have many resulting issues from the Vaters. I still have Scoliosis and resulting back issues and the anal problems have all been taken care of. I had heart issues and TE Fisula but both were corrected as a baby. I have to tell you whenever anyone askes me about Vaters, I will refer them to this site!

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