Isabelle’s Story (Unclassified FOD)
Our Miracle From God
Isabelle was born in July 1998, just four days short of our first wedding anniversary. I was ecstatic I had the little girl I had always dreamed of. She was beautiful, as all babies are. I tried to breast feed exclusively but failed in my attempts. I would find out later that the hospital had given Isa, as we call her, both bottled sugar water and formula because of low blood sugar. We were never told and went home thinking we had a perfectly healthy baby.
At Isa’s two-week check-up she had failed to gain weight. The doctor told me to supplement with formula. We did and although she seemed to throw up more than she swallowed, she very slowly put on weight. When we asked the doctor about her slow weight gain he just told us that since she was still on the “chart” she was fine. We asked about her constant vomiting and were told that she probably had reflux. We asked about her episodes when she would shake after waking from sleep before she would eat. He said we were probably just over reacting.
Our doctor, tired of what he called our needless worry, did refer us to see a pediatrician since he was a general practitioner. At seven-months-old, we were told by the pediatrician that our daughter was failing to gain weight adequately because I was not feeding her properly. Frustrated I talked to a friend’s mom who told me to take her to the emergency room at an Omaha hospital and tell them we wanted some answers.
Our answers came in the form of a gastrointestinal specialist who told us that Isa had reflux. They put her on a very expensive formula and said see you in six months. At that time they also discovered that Isa had C-Dificile, an intestinal infection caused by being on antibiotics in the past. We assumed that was our answer to all our questions and went on with our lives. We tried not to worry because we had what we thought was our answer.
Shortly before Easter of 1999, Isa began vomiting. Not that vomiting was abnormal for her but we just couldn’t seem to get her to stop. I took her to the emergency room and they gave her a suppository and sent her home. Although they did run blood tests they failed to test her blood sugar at that time. The next day she was still vomiting intermittently so we took her to the doctor. Since it was our doctor’s day off we saw another doctor who told us that she wasn’t dehydrated enough yet to merit a hospital stay. He said to take her home and watch her for the rest of the day. If she wasn’t better by 4pm we were to call and he would put her in the hospital to be dehydrated using IV’s. We waited anxiously for 4 to roll around and when we called him, he hesitated but then finally agreed to admit her. When we got to the hospital admissions the doctor’s office had not yet called them. We were probably in the admit area for over thirty minutes before they were finally able to get a hold of the doctor and get admit orders. Finally she was in the hospital and they would make her better, or so I thought.
Once we got to the room the nurses checked us in, gave Isa a hospital gown and left. Lab came about an hour later and took blood. We would only find out later that they once again failed to test her blood sugar. About two hours later the nurses came back and gave us a bottle of watered down Pedialyte to feed her. Finally at 5am the next morning they decided that she was ready for an IV. Because she was too dehydrated by that time it took them over 22 attempts to get the IV in. When they finally had it in it was in her ankle and they wedged her foot to a board to keep her ankle straight. She was very lethargic by that time and mainly just slept in mine, or my husband’s arms. She stayed at that hospital until Thursday. I mentioned to the nurse that I thought that although she was able to keep some formula down she still seemed awful sick. The nurse agreed and called the doctor who I talked to on the phone. He told me that I was over reacting and that she was fine to go home. So, they sent her home even after she threw up on the nurse on the way out the door.
By the next morning she was so weak and barely able to suck on a bottle. I talked to our doctor’s nurse and she told me, “don’t worry so much, these things just take time.” At noon I talked to the doctor who repeated the same message. At 4pm my husband called them and was told that we were probably stressing her out, since she was better in the hospital then she was at home. The nurse and doctor both recommended that we bring her to the hospital and let the nurses care for her for the night so we could go home and get some sleep. Of course I couldn’t leave my baby so I kept her at home. By the next morning my beautiful little girl was unable to move on her own. She just lied wherever you put her. My husband and I knew that there was something seriously wrong so we put her in the car and drove the three hours to the hospital.
When we got there, they rushed her right in and did lab before we even saw a doctor. When they checked her blood sugar they found it to be 36 and within minutes her emergency room was flooded with nurses trying to get an IV in. We remained in the hospital for five days where they continually flooded her with glucose. By the end of the five days she was herself again. We thought that our fight was over. Only later did we realize how lucky we were she didn’t die at that time.
After this episode we went back to our normal lives. I didn’t switch doctors at that time because I thought that maybe now he would finally listen to me, which he did for the first 6 months or so. The only thing he didn’t listen to me about was her blood sugar. I asked him about it having gone so low and he told me that it was normal for a sick child to have a low blood sugar. We were gullible enough that we listened. The only problem was that Isa’s problems still continued. We kept going to our GI doctor at the hospital who told us that she was allergic to milk so we took her off all milk products. When this didn’t seem to solve the problems I spoke with the doctor again and told him I wanted answers. He agreed to admit her to the hospital for some tests. Since she was scheduled to have her second set of ear tubes put in and her adenoids taken out the next week he set it up to follow that.
I was so excited because the G.I doctor had told us that she wouldn’t go home until they had an answer. We were finally going to learn what was wrong with our beautiful little girl. After Isa’s surgery she was very ill. Although they didn’t test it I am sure that her blood sugar was probably pretty low from not eating all day. Once we finally got some food in her she finally started to perk up. The GI doctor that had set up the hospital stay transferred us over to the other GI doctor. He ran GI tests for 1 day and then came to talk to us. All her tests were normal so she should go home. I had thought we would get answers. But he told us that there was nothing wrong with her and since our insurance didn’t want to pay for a hospital stay after an adnoidectomy we should go home. I cried all night. I was so frustrated that no one seemed to care. I thought maybe he was right and it was all in my head. Maybe I had that psychiatric illness where you put illnesses on your children. I didn’t know what to do. The one good thing was that while I was being questioned I mentioned the low blood sugar and the shakiness that she would get after sleeping. We were referred over to an endocrinologist.
About two weeks after that hospital stay, Isa woke up unable to stay awake. I had a glucometer at home so I checked her sugar and it was 32. I called the endocrinologist who told us to give her juice and honey. We did and her sugar went up to 235. We were at a loss. A few days later Isa, who had been suffering from diarrhea, had really high sugars in the 200s. When I called the doctor she told me to get to Omaha right away. When she was admitted to the hospital the admitting diagnosis was “early onset diabetes.” We were sad that she had diabetes but also glad that we finally had the answer we had so desperately been searching for. When they rechecked her blood sugar in the hospital it had gone down to 100. So, the diagnosis was wrong. Our endocrinologist contacted a metabolic specialist who suggested that she be tested for MCAD. She was dismissed a couple of days later and we waited for the results.
The results came back, negative. The test that they had done had specifically tested for MCAD and not for any other FODs. So we were once again without our answer. We decided to forget it and go on with life as normal. We kept her glucometer with us at all times to test her just in case we thought that she needed it. It was in August that we were coming back from vacation in Chicago ~ Isa became very ill and started throwing up almost overnight. I tested her sugar and it was 40. I tried our usual treatments but they failed so I called her endocrinologist who told me to get her to the hospital immediately. When we got to the hospital, I told them that she had hypoglycemia and hyperglycemia both but not diabetes. They tested her sugar again and it was 91. I thought that I was going crazy. They decided to wait on putting an IV in since her sugar was normal. About an hour later her sugar dropped so low that she couldn’t wake up so they finally put in an IV of glucose. She became better almost immediately.
After this emergency trip I called our endocrinologist who said that they better do a fasting study.When we did the study she was fine for the first few hours. After about 13 hours of being without food her sugar dropped to the low 40’s. They gave her an injection to trigger her body to release its stored sugar. It didn’t work and her blood sugar went down into the 20s. She couldn’t stay awake on her own. The nurse had us pulling her ear lobe, slapping her, yelling at her, even shaking a tambourine in her face to keep her awake. It was one of the scariest moments of my life. Finally they gave her an IV glucose solution and her blood sugar went up over 300. During the day they had done a skin biopsy. We left the office feeling shaken but grateful that someone else had finally seen that I wasn’t making this all up.
About 2 weeks after her fasting study the results from her biopsy came back. She had a fatty acid oxidation defect, but it is Unclassified at this time. As I look back at all the things that she had been troubled with I see that they can be directly related to her disorder. I am grateful to finally know what made my baby so sick. I feel a little more in control. I have also learned not to question myself. Isa still has low blood sugars on occasion but she is doing much better. She is finally putting on weight at a steady rate. As we look back we realize that there is no logical reason why she isn’t dead or suffering from severe brain damage. We look at her every day and remind ourselves that she is truly a miracle from God!
I know now that other families aren’t as lucky as we are. I know now that other families have lost their beautiful children because no one would believe them. My advice is simply don’t give up. Be persistent. And never, ever let a doctor or anyone tell you that you are over reacting. Always, always trust your instincts!
Sharon Fisher, mom to Isabelle, age 2 (Unclassified FOD)
2005 Fisher Family Update
Many things have changed since I first told our story. Isabelle is now 7 and she has 2 siblings ~ Rebekah is 4 and Jakob is 2. Both Rebekah and Jakob have the same unspecified disorder that Isabelle has although we have been given the label Mitochondrial Myopathy to use since in many cases labels help.
We have moved to Fort Worth, Texas to be closer to better medical care then we were able to get in Nebraska. In January of 2003 we chose to have a g-button placed in both Rebekah and Isabelle and it changed their lives. We no longer struggled with the nighttime hypoglycemia as we had in the past. Since they were able to get proper nutrition they began to grow like any healthy child. But most importantly illness now doesn’t always require the hospital and IV as it had in the past. However, in August of 2003 when our baby, Jakob, was 7-months we realized that he was heading down the same path as his oldest sister with delayed development and slow weight gain. So we decided to get him a g-button as it had done so much for Rebekah and Isabelle. Unfortunately the doctors and insurance companies did not agree. While we were fighting with them I was also charged with making my children ill to get money and attention. The charges were later labeled ‘unable to determine.’
During this time we watched as our beautiful baby boy was wasting away. This was probably one of the lowest points of my life. Finally, with the help of some great doctors, Jakob received a g-button at the age of 14-months. Today Jakob looks and acts like any healthy 2-year-old. Of course all three children have to be on nighttime feedings through the g-button to control the hypoglycemia and we have had a few close calls when tubes came undone. But because we knew what to watch for we were able to catch the lows before any damage was done.
On August 10, 2005 Isabelle underwent a Nissen fundoplication. We had been putting it off since she was a baby but no longer could. During the surgery doctors discovered that her muscle was so weak that it had stretched out to be twice as large as it should be. She is doing well now and hasn’t thrown-up once since the surgery. I can’t say that our lives are perfect by any means. When the kids get sick, they get really sick. And, of course, we still have to use special pediatric strollers for going anywhere of distance. But thanks to amazing parents like those you read about on the FOD site (that blazed the way for all of us to follow), and some wonderful doctors who don’t think that every word out of your mouth is just paranoia, my kids are living what I consider a blessed life.