Discussions By Condition: Medical Errors

zellweger syndrome

Posted In: Medical Errors 2 Replies
  • Posted By: thager79
  • June 13, 2007
  • 09:00 PM

In 2000 I found out I was pregneant. Months went by and she was growing fine until the 3rd trimester. She began to fall back. My due date went from Sept. 15-18, to Oct. 3-5. I had a difficult time during the pregneancy. I was hospitalized many times even passing out while I would be out shopping or stood for to long. Docs didn't know why.

When I got close to my first due date I began having contractions which when I got to the hospital was told that I was not having any and that it was all in my head. Hours later I was sent home. Less than three hours later the pain was back. Unsure what to do I laid in bed for a few more hours until my crying woke my husband. He convinced me to go to the hospital. She was on her way out but the nurse wasnt comfortable delivering her so we waited for the doc. One push and she came.

She seemed fine but she couldnt keep her glucose level stable so they took her to NICU. Hours later a doctor comes and says" Do you know what down syndrome is, we think she has it." I was by myself so I immediately called my husband and told him to come back to the hospital. A couple more hours later we saw Alexus. She had tubes and IV's everywhere. They told me Alexus wasn't thriving and she needed to stay in NICU because according to my due date #2 she was early.

Checkout came and we left alone. I bought a breast pump and would go back to the hospital to try and feed her. We tried to get just an ounce in her that would take about 45-60 min. To long for their expectations. Oct 3rd came and they let us take Alexus home IV free. Weeks went by feeding was every 2-3 hours with not much more success. Then I noticed that she was dusky.

My mother in law and I went to the ER. Where I was asked "ARE YOU STARVING YOUR BABY?" "NOOO!" I told them. Next thing im being asked all sorts of questions not pertaining to why I initially brought her for. They eventually sent us to another hospital. Where more tests were done, spinal tap, gastro, x-rays, blood cultures. Nothing.

Then a doc came in just getting back from the east coast. He ordered a specific test. A week or so later the results. Zellweger Syndrome, prognosis death time not sure. One day later we took Alexus home she had a nasal tube that feed her continuosly and an oxygen tank. By now I realized I needed help. We got a night nurse to help with caring for her. A week later.

December 3, 2001 Alexus passed away.

Reply Flag this Discussion

2 Replies:

  • thats a very sad story, my heart goes out to you.
    Anonymous 42789 Replies Flag this Response
  • Through out my pregnancy I too had several of the same problems that you did. I was due on April 12 or the 15th, they was not sure on the date but was one or the other give or take. One time we heard he "J.W." was not growing and that I needed to eat more, then we was told a week later that he was normal size. I started to contract on April 12th and they send me home because I was not dialated, I went and seen the mid-wife and she send me to be induced, while at the doctors office they did a stress test, ultasound, and then sent me back in for another stress test, she said I barley passed the stress testings and sent me home to to a kick test, so I did the test, went back to the Midwife the next Thursday and she was upset she couldnt find his heart beat. I was rushed to a hospital 1 1/2 hrs away. They tried everything to induce me and nothing worked, the whole night they chassed J.W.'s heart beat, finally they ended up doing a c-section.When he was born he weighed 7lbs even and seemed fine, I did notice that J.W. had a big space between his eyes. The next thing we knew his temp. went down and they had to put him in NICU for heat, then we was told he had a slow heart rate and always with. Next he too started to lose weight and had to be tube feed because he wouldnt suck on his bottle. He ate for them so they sent him home.When I took him to the dr. for his 6 week check up the dr. asked if I feed my son because he was lossing weight, I told him I did but it took over and hr. for him to eat and ounce and by then he was tired of trying. The dr. admitted us to monitor his feedings, he did see that it took a long time for him to eat anything, yet J.W. put on 3oz. so we was sent home.Two weeks later we took him back to the dr. for another check up and again J.W. lost even more weight, he again wanted to readmitt him to monitor his eatings...I told him no that I fed my son and my son nor I was going to go through that agin. He did blood work and as we was leaving the hospital he ran out and told us that J.W.'s liver enzymes were triple the ammount they should have been, that he could not let us leave. The next day he had us transffered to a bigger hospital, and our lives from that day on changed for ever. They did a liver biopsy and said that his liver bile duts where only working 30%. They then ran numerous testing (head to toe) they found out that not only did our son have a bad liver he had several problems wrong, he had 2 heart murmurs, his palate was so enlarged that he could have asperated on his formula the whole time, he was going apnea in his sleep, he had severe acid reflex, he had no muscle ton, his eyes started to go crazy...he had retina pigmatosa and was going blind. They decided to do a stomach wrap for his reflux problema nd put in a g-tube, when they opened him up his liver was so enlarged that they did a second liver biopsy to get to what had to do to do his surgeries planned.They still had no idea what was causing so many problems, they thought he had a syndrome called Allagilles but testing confirmed it wasnt. We badled so much yet was so puzzled on what to do for him not knowing what he had so we could try to help him. We did want a second oppinion on the brain MRI so we asked to be send to another nueroligist. Dr. D. sent us to Miami Childrens Hospital, the dr took one look at J.W.'s MRI scan and sent us strait to Genetics. They did blood and urine and sent them off. When J.W. was 9 moths old he filled his diapers with blood, so we was air-lifted to Miami Childrens Hospital, J.W. was now needing red blood, platelets, and plasma.They wanted to go down and see what was causing the bleeding however his blood sugar started to go really low. We finally got that under control and was able to go down and find out that he had varicose veins exploding due to his liver. They planned on putting in a shunt to bypass his spleen.The next thing we knew all the doctors signed off from our son all except for the genetic doctor, I walked to her office and she told me there was nothing more they could do for our son. We was not sure what they had found out but I knew what it was deep down. She told us to get preparred for a meeting with all the doctors taht friday.That Friday we all met up in the conference room, they talked about J.W.'s facial features, his ears, eyes, chin, everything then asked us to wait out the door. They came out and told us that J.W. had Zellwegers and that the life time was 6 months to 1 year, it didnt register to me becuase there was so much going on, I asked so are you telling us that our son is dieing...and she said "yes" and walked away.Everyone gae up on us, even the Ped. tried to give up and wanted Hospice to take over, I begged him not to give up on us or our son, we all needed him more then words could explain. He changed his mind and decided not to let us go, that we would sign DNR papers but only if they would say that we fixed any reversable conditons and Hospice did step in, however the only way I would let them was if they too agreed we would still be able to see Dr. D...J.W. made it to 11 months and 27 days, he gained his Angel Wing's April 20,2005 due to Hypoglycemia, heart failure, liver failure, and Zellweger Syndrome.You can read his whole story at www.myspace.com/angeljwmount
    Anonymous 42789 Replies Flag this Response
Thanks! A moderator will review your post and it will be live within the next 24 hours.