Discussions By Condition: Medical Errors

Tragically misdiagnosed-Ehlers-Danlos Syndrome Vascular Type (IV) Continued 3

Posted In: Medical Errors 5 Replies
  • Posted By: Daves Mom
  • October 24, 2006
  • 06:41 AM

It took 1 hour to draw his blood. My husband in between taking care of our son and trying to comfort me, found time to call my sister-in-law to come right away to help me. When she got there she went in to see Dave. She told the nurse that his breathing looked rapid and shallow, he was semi-conscious, in and out and he looked jaundice, she said, "He's fine, "He's only a little pale under his tan", that's all. He still wasn't hooked-up to an IV or Hyperal at this time (now it's between 4:30 & 5:30). She still hadn't gotten a doctor in there to examine him. My sister- in-law, was trying to snap me out it - she had given me at least 2 Xanax - she said, "YOU HAVE TO GET DAVE OUT OF HERE, RIGHT NOW!!!". After she said that, we ran for the phone - I called the Philadelphia Children's hospital, spoke to the same surgeon (I still cannot remember to this days what I said) but I made arrangements to have the Helicopter transport come pick-up Dave. The one thing I do remember was that he told me that I had to let the other surgeon know - because of protocol. The nurse got him on the phone, I said, "I'm transferring David to Children's Hospital, this just doesn't make sense, you've been telling me for three days now, that he was just fine, what the ***l is going on?" He said, "Obviously he's bleeding from somewhere". This is when I slammed the phone down. It's now about 6:00 p.m. I told the nurse, "I'm transferring him to Children's by chopper, to make whatever arrangements that she had to. I was half- functioning at this point. The nurse said, "Don't you want to wait 2 more hours to see what his blood count is then"? His blood count was already 9.2. "I told her to take another blood test, now"! We're still waiting for a doctor, to examine Dave. He was still vomiting.

Around 6:15 p.m., David passed out again, just trying to sit on the edge of the bed to urinate. My husband went crazy, yelling to "GET A FU#?&# DOCTOR IN HERE NOW, WHERE THE ***l IS THE DOCTOR????", the nurse went running for the surgeon on duty at the hospital, which took another half hour to 45 minutes for him to come to his room (7:00pm). As soon as he saw Dave, he yelled for, "BLOOD"!!, "STAT", "A SAP", - my son was dying this whole time. And the nurse did nothing!!!!!!!! The blood that was "STAT" wasn't given to David until almost 8:00 p.m., almost 1 hour later (his cross and type was documented). David didn't get the immediate emergency medical attention that he should of had, this whole time.

His surgeon finally decided to show up, at 7:55 p.m.(4 1/2 hrs, after Dave collapsed the first time). Just before the chopper arrived. The surgeon, "NEVER" said one word to us. We saw the Children's transport team, we never felt such relieve. Some one, who really knows, "What the ***l they are doing". When he got to Children's, they stabilized him - had complete sepsis throughout his body, the anterior of the sigmoid wall had opened entirely, they discovered, impressive hemoperitoneum, a very large subcapsular and interparanchymal hematoma on the liver, free air and collection of fluid, several units of clotted blood, throughout his peritoneum. There were 4 perforation of the small bowel, abscesses, blood clots. "Did all this just happen overnight?" "I don't think so"!!!!!.

The next morning they did surgery for 5 1/2 hours. (I have no idea why the choose to wait until morning to operate on him - it was now 4 days that the bowel had been leaking inside him). He pulled through, but what followed was 10 excruciatingly painful days, with something going wrong everyday - fluid developed in his body, then a chest tube to drain the right pleural effusion (lung) that developed, then an abscess on the liver (E-coli) had to be drained, raging fevers. (In a person without a connective tissue disorder - the extensive contamination of the peritoneum cavity from the small/large bowel leaking. This alone can produce clotting problems leading to bleeding, the amount of fragility of the small bowel/intra-abdominal structure would occur because of the amount of sepsis present. Infection can erode the blood vessels). With a connective tissue disorder, David was fighting a losing battle!!!! But, we never gave up hope..never.

As soon as I saw Dave he said to me, "Mom, I really need a vacation?", I told him as soon as he gets well....we would take him to Orlando.... for the best vacation ever. Then he told me, "The surgeon really screwed up on me Mom, didn't he?", "I hate him for not listening or believing me", "Why didn't he do something!". I made my son a promise that day, that I would take care of everything. He even asked me, "Mom, we are going to get a lawyer, aren't we"? I told him, "Don't worry about that now, I will make sure that all those Doctors, will never forget your face or mine, or what
they didn't do for you". You can believe that.....

I spoke with the chopper nurse, she said, "When we got your call, we had never received a call like that from a mother wanting her child transferred, it's usually from a doctor, "so we came right away". We were in a whirlwind, we had no idea what the ***l was happening to our son. My pediatrician had gotten back from his vacation, and called Children's ICU - that's when he told me, "That they think Dave has Ehlers-Danlos Syndrome". "WHAT!!! What the ***l is that?" - his words to me were.. "It's what the circus people have"... "What!!!!! I said"... he proceeded to tell me, "Where they can bend in a pretzel"... "David can't bend in a pretzel!!!"... An overwhelming feeling flooded my being, my soul, "They are looking at my son as a circus freak...this was the same day that a Geneticist was finally called in to examine him, all she did was really look/examine his obvious symptoms, and she know he had a connective tissue disorder called, Ehlers-Danlos Syndrome Vascular Type (IV).

It wasn't until Saturday, one week later and 2 days before Dave's death - that we were brought into a conference room - the geneticist and a doctor told us, "We think your son has Ehlers-Danlos Syndrome -Type IV". "If he survives he will be very limited - he would never be able to play sports, never have any rough physical contact". I asked, "How many people have this?" She said, "There is one other person that we know of". I was floored.. ...destroyed. Then she said, "At any time anything can happen,
because of the fragility of tissues, skin, blood vessels, organs". "Are you telling me, "That I will never walk out of here with Dave?" " I can't say, will have to wait and see, hope and pray". My husband had to leave the room. I sat there completely overwhelmed with emotion, a sword pushed into my heart. After, they "RIPPED" my heart out and destroyed our world, with their words. I knew I had to pull myself together, so my son couldn't read my face and see such torment - for he knew me so well. I made up my mind that, "No one", was to tell my son, that he had EDS Type-IV, he had enough to deal with, he didn't need anymore!!! They had already took so much from him, already. Plus, his dream/passion had always been to play hockey - to someday be an ice hockey player!!!!!!!!! "NO ONE, WAS TAKEN HIS DREAM AWAY FROM HIM, NO ONE!!!

On top of "ALL", that was wrong with him, from "Neglect and Stupidity", from the surgeon's and my local hospital - then they tell me, he has this genetic disorder that he had for 14 years, which "NONE" of these educated and experienced DOCTORS, ever diagnosed. There were documented medical articles published in Surgical and Pediatric Journal's from 1994, 1995 - 1 yr. prior to Dave - a 14 yr.old and a 15 yr.old who had a perforation of the sigmoid colon in Ehlers-Danlos Syndrome......there's no excuse.....for not keeping up with important medical information....that's part of their job....."The presence of a perforation in a young patient, without a predisposing factor such as neoplasm, diverticulitis, colitis, steroid use, or inflammatory bowel disease, "MANDATES THE CONSIDERATION OF EHLERS-DANLOS SYNDROME".

Also, surgical treatment of bowel perforation in EDS differs from that in most other patients because perforations tend to recur and anastomoses tend to breakdown. Surgery has to be done more meticulous, with no stress or tension put on internal organ. Restoration of bowel continuity is not recommended because of high incidence of recurrent perforations. Permanent colostomy, despite the young age of some patients, has been recommended. My son would still be alive! Can you imagine what it does to you, what it feels like; to have to watch helplessly as your child is suffering before your eyes, because Of "DOCTORS" that didn't do their "JOBS". To have your child that you love above "ANYTHING", and would give your life to save: ask you..."Mom!, am I going to die?????"

~continued~

Reply Flag this Discussion

5 Replies:

  • I am so so sorry for your loss. That is the most horrific ordeal I have ever read. I am sobbing uncontrollably. Thank you for sharing your story. I am a mother of an 8-year old who has been ill for sometime. I just can't seem to get anyone to take it seriously and help him. I will remember your story when I speak to his doctor tomorrow. I think there is a very valuable lesson to be learned here. Thank you again. God Bless.
    Anonymous 42789 Replies
    • November 15, 2006
    • 05:30 AM
    • 0
    Flag this Response
  • I am so sorry for your loss of david, you must be so angry with the doctors, My family are going through similar circumstances where my da was being palmed off by the hospital and his gp, despite the fact they mistook a bloodclot on his lung and pnuemonia for a trapped nerve in january. The frustration of getting a doctor to believe that you KNOW something is SERIOUSLY WRONG is the worst frustration I have ever felt. I hope in time you will have some peace.
    missym29 3 Replies Flag this Response
  • First of all, I want to tell you how sorry I am for the loss of your precious son. After years of suffering excruciating pain and the loss of my only sibling to "unexplained sudden adult death" I have been diagnosed with Ehlers-Danlos Syndrome. Fortunately, mine is not the vascular type that your son had however my joints dislocate spontaneously and my pelvis and femur will no longer stay in place at all so I can barley get around and suffer tremendous pain however, I am the lucky one. Anyeurisms, especially of the aeortic valve are common in EDS patients and this is what I assume killed my sister at 41 years old although in another case of mishandled emergencies and a botched autopsy we will never know for sure. What I do know however is that unlike your son, I was able to bend like a pretzel as a child and I suffered countless sprains, dislocations, sudden unexplained falls and was diagnosed with Somatic dysfunction of the lower lumbar at 17 years old. Still, I struggled for years, (I'm now 40) to make a doctor actually listen to me and work with me until we found a diagnosis. By the time I was in my late teens, I began to suffer from such horrible arthritis that I was no longer able to bend abnormally and when I would tell this to doctors they would dismiss it completely.When you walk into a doctor's office and tell them that you can feel your bones going out of joint and that you can put them back into place on your own, the doctors look at you as if you are completely crazy and ignore everything else you say.After years of getting nowhere with doctors, I began researching and searching the internet for my symptoms, this is when I found out about EDS. But even though I knew that the family history and my symptoms matched, it was still disregarded by doctors because I had now been in pain for so long that I could barley walk, let alone bend beyond normal limits.I'll have to save the rest of the story for another time, I can only sit up for short periods but I will close by saying that if you have symptoms, even back pain that you cannot get answers for don't give up!!! I now know that it is believed that nearly one in 5,000 people have Ehlers-Danlos Syndrome and there are several different types and symptoms. It's unbelievable that the medical society is still oblivious to this devistating and often deadly disorder.Unfortunately, my children both have EDS and my son, now 14 had already done severe damage to his back by the time we finally got answers. Help us spread the word before another child has to suffer.
    Anonymous 42789 Replies
    • February 11, 2008
    • 07:02 AM
    • 0
    Flag this Response
  • So sorry for the loss of your child just reading this I had to grab the box of tissues. I am currently in the process to find out if I have EDS. I don't know much of my family history as for genetics, but I do know that my grandmother passed away suddenly. My mother told me her heart basically exploded. I believe my grandmother was 51. A few years ago I lost my mother she was 47. She too suddenly passed away. As a child my mother had aortic surgery then as an adult she had aortic repair again. My mother also died from the aortic arch just bursting.Now I'm worried...I have had endocarditis back in 2002 (I got sick from a simple dental cleaning) after 6 weeks in the hospital and a tracheal echocardiogram doctors found out that I have a mitral valve prolapse. I don't need corrective surgery. Tho I had a son in 2003 who needed immediate heart operation right after he was born to correct his aortic arch. I bruise easily, I don't heal well or fast, I have Raynaud's phenomenon, I can touch my tongue to my nose and bend thumbs back to my wrist. When I was younger I was a lot more flexible & lumbar to do other things as well. Oh can't forget my eyelids skin its super elastic/stretchy. After seeing a orthopedic doctor for a wrist injury that happened on 7/26/10. To this day the joints and everything hurt & pop etc...yet MRI, Xrays & an EMG test show nothing broken or need surgically repair. They suggested I see my primary care to make sure whats going on with me is not an underlying cause of something else. So today I seen my doctor 10/27/10. I've had about 5 tubes of blood taken and have been referred to see a genetics doctor. My primary wants to rule out a few possible things, right now the biggest concern is my previous family history with the heart issues & sudden deaths. Could the genetic disorder actually have been passed down to me? (EDS Type IV) and I passed it down to my son?I am young only 28 my son is 7. When I read the stuff online about EDS IV he also shows classic signs of having it. I'm going to wait to find out what my blood results say & also what the genetics doctor tells me first. If the doctor gives me the news that I don't want to hear. I'm going to have my son tested as well. I think that knowing more about this condition is very important especially after reading your story.
    Anonymous 42789 Replies
    • October 27, 2010
    • 06:43 PM
    • 0
    Flag this Response
  • I am very sorry for your loss of your son, I too lost a loved one in this way. My mother had an aneurysm at 55 and passed do to hemorrhaging. My mother and I had been struggling to find out what was wrong with us for years, with frequent dislocations, instability, hormone problems and just a cascade of symptoms. I did not realize we had eds until after she had passed. Shortly before she lost motor function due to her hips and knees and then went blind. I know how infuriating it is to go to a doctor and not be listened to, to be diagnosed with something common and dismissed. EDS symptoms are very blatant, and it's not that rare of a condition so it *****s me off that no doctor my mother or I saw in our lives even mentioned this even though I was born with dislocated hips. I do not understand whatsoever, but what I do understand is you HAVE to be your own doctor. You have to look after yourself.There are SO many things that can go wrong with the human body, we just have to do what we can.sending my thoughts.
    Anonymous 42789 Replies
    • November 17, 2010
    • 11:00 PM
    • 0
    Flag this Response
Thanks! A moderator will review your post and it will be live within the next 24 hours.