The Story of Alexis
Our daughter, Alexis (now 12 yrs. old), was born with Hirschsprung's Disease in May 1986. It was missed at birth by our family doctor, and not accurately diagnosed until she was 6 1/2 mths. old.
I was extremely conscientious during my pregnancy in regards to diet and activity to ensure a healthy baby. I thoroughly enjoyed this planned pregnancy and everything seemed to be by the book, including natural delivery right on the due date. The baby weighed 5 lbs., 14 oz. at birth, but I was only 120 lbs. at conception and my husband is not extremely large, so we didn't consider it low birth weight.
I wanted to breastfeed the baby, but she didn't seem too responsive. Being a first-time mother, I was nervous and unsure of my mothering capabilities, but figured that was normal and it would all come to me, as all my experienced friends encouraged. With things not going well, the doctor chalked it up to insecurity and allowed an extra day's stay at the hospital for me to adjust to my new baby with the maternity nurses' help.
Well, we came home and things got worse. I gave up breastfeeding within 2 days. I was so unsure and scared the baby was not getting enough nutrition since she did not seem interested in nursing, so I called the doctor and put her on the recommended formula and bottle. That way at least I knew how much she drank, if at all. She would throw up so much I couldn't imagine she kept any in her system. It would take an hour to get 1 oz. out of the bottle, and most of that was on her tee shirt from her pushing the nipple out of her mouth with her tongue!
I noticed the baby did not have a bowel movement at all the first week we were home, and reported it to the doctor. He thought that was okay. Then when she started passing stool, she eliminated continually for two days - kind of diarrhoea consistency. I kept taking her into the doctor every few days for weight checks because I felt all along something was not quite right, even though the baby was very complaisant and did not fuss much at all. I felt there was a problem, but the doctor disagreed, was getting irritated with me, and thought I was just an over-anxious new mother. I remember him even making the sarcastic comment that he'll have a stronger bond with this baby than her father for all the times I bring her to see him.
At four weeks old, I noticed the baby would strain tremendously without producing a bowel movement. Luckily when I showed up at the doctor's office for a weight check, our doctor was not there and I told the nurse of the terrible straining and that the baby had what looked like haemorrhoids. She checked and immediately called in the partner doctor, who in turn put us in touch with specialists at Polyclinic Medical Centre in Harrisburg, Penna. The next day the surgeons examined her and were 99% sure she had Hirschsprung's. We were devastated and didn't want to believe them. When the pathology report came back, it did not show Hirschsprung's and we were so relieved. However, the surgeon (Dr. Alvear) felt this was a Hirschsprung's case and asked us to return her in a few weeks for further testing. In the meantime, he was treating her for an anal stenosis. So we returned her for testing at 3 mos. of age, but it proved nothing.
I didn't understand the surgeon at the time - he was using medical jargon unfamiliar to me - but in hindsight, I know now that he wanted to do a minor rectal operation so he could more conclusively rule out or diagnose Hirschsprung's. At that point, I had to return to work from maternity leave and was willing to accept the advice of my local doctor who thought she just needed stool softeners until she grows more, and didn't allow the surgery.
Although improved by the anal stretching, we continued to experience bowel problems, alternate diarrhoea and constipation. We'd help her complete elimination with gentle use of a rectal thermometer or suppositories. (I was going nuts -- carried hard marble-like samples of her waste around in a jar in my purse to show and ask my friends if their babies ever have similar bowel movements - I was so desperate for help!) One day I was in tears at my doctor's office - I told him I can reasonably handle things but I'm having a lot of difficulty with this baby. I had an overwhelming feeling either I wasn't capable of caring for her or something was still wrong with her. My husband was just as frustrated too, not to mention we were spending hundreds of dollars in doctor visits without much satisfaction.
At that time, there were only 2 paediatricians in our small town and I couldn't get in to see either of them. We asked our family doctor to refer us to a specialist in babies, but he wouldn't because he felt he was handling her satisfactorily. Finally one night when she was about 5 mos. old, we rushed her to the emergency room at the hospital with a temperature of 105. They treated her for an ear infection and wanted to call in our doctor. My husband caused a major scene and said we need someone else with an unbiased opinion to look at our child. At that point, this forced our way into a paediatrician’s practice. However, he was so booked up he wouldn't be able to see her for the initial visit for about 6 weeks. So I said, what do I do in the meantime because I know she'll be sick before then? Our family doctor reluctantly said he'd keep her on his roster until the transition, but he was disgruntled at us and commented to me he felt he got her through her problems and now another doctor will have the easy pleasurable moments in watching her grow. I was so confused and upset and didn't know where to turn or whom to trust. The doubt and uncertainty caused tension in our marriage - which was the last thing we needed to have happen in a crisis.
At 6 mos., I started solids. Inevitably, she became ill prior to the paediatrician’s initial visit and I had to take her to the family doctor's office on a Saturday. Another partner was on call. I can't say for sure, but I don't think our records were available since we were being transferred, but I did inform the doctor on call about suspected Hirschsprung's. Alexis was violently throwing up bile. This doctor was concerned and had us stop by the hospital lab for blood work, and sent us home. She got the lab results and said it may be just a stomach flu and recommended Pedialyte, but said to call the office first thing Monday if things didn't improve.
Alexis did not improve. On Monday morning, we noticed her stomach was swelled so large I could hardly close her sleeper. I called the doctor's office around 7 a.m. and was told to call for an appointment when the office opened. By this time, I suspect they were very tired of dealing with me and were rather rude. They commented they have other patients to see too and gave us a later appointment. So my mother and I took the baby directly in to the doctor's office to wait (we were an hour early for our appointment time). When they saw us come into the waiting room and that doctor saw our sickly baby, he knew there was big trouble and gave her immediate attention. He sent her directly to the ER where they worked on her for about two hours, and for the first time, the paediatrician saw her.
Upon my suggestion, she was transported by ambulance to Harrisburg's Polyclinic Medical Centre for Dr. Alvear's attention. He unfortunately was out of town that afternoon, but the staff there gave her superb care until he could arrive. She was so unstable he had to wait until the next day to do emergency surgery. Everything but her heart had shut down, she had terrible convulsions and was hooked up to a respirator in intensive care for a week. She had the bowel blockage removed, received an ileostomy and had the Hirschsprung's disease confirmed. There were tubes in every opening of her little 12-lb. body and monitors and IV's attached everywhere else. She looked as if she had been in a horrific auto accident. Days went by before we had much hope. She amazingly recuperated, and about 2 mos. later, had the area of intestines with no ganglion cells removed, and about 2 mos. after that had the ileostomy reversed and was surgically corrected. Thank God for Dr. Alvear saving her life!
Oddly enough, we had friends whose son (born in 1983) had HD. Additionally, at a family reunion, we discovered an unknown cousin with HD, and then in 1988 another local child was born with it. In doing genealogical research, I was able to link all four children to common ancestors generations back into the 1700 & 1800's. Univ. of Pitts. Drew blood samples from these 4 kids and relatives to study similarities in their DNA, but to my knowledge nothing was concluded from them.
I have tried to educate family members (and others) of this condition and possibly spare someone some of the turmoil we experienced with our child. Alexis is very fortunate and I think she has little repercussions from her terrible ordeal since she was so young when it all happened. Today she is a happy normal 12 year old girl.
Thanks for reading our story.
Lori, mom to Alexis (12 yrs., HD) & Emily (7 yrs.), wife to Daniel (17 yrs.)