Liver disease that you can be born with
Being born with Glycogen Storage Disease of the liver (Von Gierke's Disease)
Glycogen Storage Disease is also known as Von Gierke's Disease. It is found in the liver and in order for a child to be born with it, both parents have to be carriers of the disease. The liver is larger than normal and the stomach is distended at birth. The doctors can feel the stomach to see if the liver is larger than normal, and if it is found that it is then an ultrasound or MRI may be performed to rule it out. Once that it is found that the liver is enlarged with these tests, the doctor will send the patient to a GI specialist. The GI specialist will go over any and all tests that have been done and the specialist will then, most likely, have the patient go through a Liver Biopsy.
Liver Biopsy's are very easy and they are done usually in the hospital setting as a outpatient. A liver biopsy gives the doctor information as to how it is functioning and if it is diseased, how far along is the disease. Doctors will give a local anesthetic and then insert a long needle between the bottom two ribs and take a tissue sample. It is quick and virtually painless. Depending on what the test results show, the patient may be referred to a clinic. The clinic will then determine if the patient is a candidate for a Liver Transplant if necessary.
When one does have to have a Liver Transplant, the whole family goes through trials with the patient. The patient has more bad days than good because of the pain that they feel on their right side and having it travel to the center of their stomach. There stomach distends even more which is what makes every day hard to deal with because of the pain and being uncomfortable. Every patient has different levels at which they can tolerate pain, and when it gets so bad that they can't stand it, they take it out on the ones that they live with.
I know this all too well, as my husband had this disease. He was diagnosed as a baby with it, but it never became an issue with him until he was in his late 20's. We took him for numerous test and he had numerous pain medications that only lasted for about 2-3 months because his body became immune to them. Once we had gone through every known pain medication in pill form, it was time to see someone. The doctor sent us to Strong Memorial Hospital in Rochester, New York, where we saw the transplant team. It took a long time to get on the New York State Transplant list but we did it.
At the time that we were waiting for a liver to become available to us, a good friend got a hold of the hospital and wanted to be a live organ donor. He went through all the testings, and we found out that he was a match. We thought it was a great thing and that maybe our lives would be at least some what normal if we did this with him. We decided to do it, and were very excited, but yet very scared.
In October of 2001, we did the transplant. It was only supposed to take 10 hours, but it ended up taking 14 hours due to complications. Once it was over and both recipients were out of the OR, and in recovery, we knew that we could relax for a bit. We went to the rooms that they were going to be in and waited. They both were ok and made it through. They both came home 2 weeks later. They went back periodically for checkups on the growth of the Liver. Both of their Livers were growing healthy, and there was no reason for concern at that time. My husband was on anti-rejection medications along with antibiotics and the donor was on medications also.
On the one month visit back that me and my husband had to go through, we found out that his body was starting to reject the liver, and that their was no liver available for re-transplant. He came home for Christmas that year to spend time with us as we had 2 boys ages 4 and 6 months. He wanted to see his youngest son have his first Christmas and enjoy himself, for what may be the last time home. He went into the hospital Christmas Day night. He stayed in the ICU through New Years Eve. We had our New Years on the phone that year.
Now that it is January 2002, the doctors let him come home. Finally I have my family together again. Well, so I thought I did. Exactly 1 week later he was back in and that's where he stayed for the next 3 weeks. It was very difficult, but I knew he was in good hands and I had 2 little boys to take care of at home.
February 1st, I got a phone call and he told me that he could come home. I went and got him, and was excited. Exactly 2 days later, he had gotten really sick, and it was back to the hospital yet again. This time he had to stay for good. We spend Valentine's Day that year holding each other on his hospital bed, and watching t.v. It was very hard to hold him like i used to because he had IV's. and drain tubes coming out of his stomach and I was afraid of hurting him. It's almost as if I was holding a newborn baby.
I spent numerous nights by his side, and going back and forth from home to the hospital. On Friday March 8th,2002, I received a phone call that it was urgent that I get back up to the hospital. Something had went wrong. He was transferred into ICU and was on a ventilator and had numerous tubes, IV lines, and drains coming out of him. I was told that I had to sign a DNR and I was given the option of keeping him on the ventiltor with out the pain meds that they were giving him or take him off the ventilator ad leave him with the pain meds.
I was a wreck at this point, and at 25 years old, I never thought I would have to make these decisions. I told them to take him off the ventilator and keep the pain meds going to keep him comfortable. I stood at his side and held his hand telling him how much I loved him. He looked at me one last time and mouthed the words I LOVE YOU, and then he closed his eyes and went to sleep for the last time.
It was 9:13pm, and he was gone. The light over head was dimmed and all was quiet. He looked peaceful, and out of pain. I couldn't remember the last time I saw him like that. I bent down, kisses his still warm lips, and I told him that I loved him to no end, and that me and the kids would be fine.
We left the hospital 3 hours later, and the next day I did what a 80 year old women would have to do. Funeral arrangements and talking to the pastor of our church for services. It was a long hard battle not only for him but for me, and I knew with all my heart that I could do this because God gave me the strength to do what I had to do.
My children are now 12 and 8, and I couldn't ask for better kids. They remind me every day how lucky we are to have each other, and how much they love me for what I have done for them. They know of their father's struggle with this disease, and they know that God had to take him to do a job in heaven. They surprise me everyday with the things they do, especially when what they do or say reminds me of their father.
All in all, I know that I did what I had to do and respected all his wishes. If I had to go through this again, I know that I would be able to handle it because I am strong and I have God on my side to help ease the pain. I hope and pray every day, that a cure for this disease can be found, so that others don't have to suffer like my husband did.
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