We were so excited to find out we were expecting our first child. We were also very nervous...not for any particular reason. I guess to some degree we understood the awesome responsibility we now had. Little did we know we would experience the greatest sorrow a parent could face...and more than once.
My 12 week ultrasound was perfect. We were thrilled to actually ‘see’ our little baby. It was at my 20 week ultrasound that we found out our son, Andrew, had kidneys problems. A number of early suggestions of Down’s syndrome and some trisomies were proved to be very wrong diagnoses. After a more detailed ultrasound we were told renal failure was anticipated...our son had cysts on his kidneys and the amniotic fluid was diminished. One doctor told us we could ‘throw in the towel’. We understood his suggestion of abortion and we emphatically refused. We were not going to allow a doctor to take our baby’s life.
We were also badgered about amniocentesis but refused because there was a risk of losing our baby and there was no information that could be gained that could help treat our son. The risks were not worth it. This led to my search for a hospital to treat our son. The first real diagnosis, which was later proved false as well, was autosomal recessive polycystic kidney disease. This is a very rare disease and is found in couples like us who have no family history of the disease. I finally found a nephrologist who said our son’s condition was not necessarily fatal. We understood our son had a very poor prognosis, but we hoped our son could survive to a point that he could receive a kidney transplant from me or my husband.
Through all our medical appointments and research, we learned many things about fetal development. Amniotic fluid in the second and third trimesters is mostly fetal urine. When a baby has poor kidney function, amniotic fluid is often diminished. A consequence of this is poor fetal lung development, as the baby ‘breathes’ this fluid to help his lungs develop. We learned that due to this disease, our son’s most critical problem at birth would be a poor respiratory status. The kidney failure might be able to be compensated for, at least for awhile, by peritoneal dialysis. Based on all this information we began amnioinfusions. It is basically the opposite of amniocentesis, fluid is put in rather than taken out of the womb. We understood the risks (similar to those of amniocentesis) but the risk was worth the potential benefits. Our son needed to grow his lungs or he would never be able to even try to fight the kidney disease.
I made it to about 38 weeks and went into labor a few hours after my last amnioinfusion. We were excited yet very nervous about the imminent birth of our son. We heard him squeak soon after he was born and he was quickly whisked away by a team of neonatologists and intubated.
Andrew was beautiful. Unfortunately, the amniofusions did not seem to help his lungs. We don’t know if the infusions of normal saline were too small, too infrequent or just not a good match for amniotic fluid or if this disease also affected our son’s lungs. Andrew lived for 15 days. We had never experienced such grief in our lives before. The time we had with him will always be precious to us.
After Andrew died we met with the nephrologist at the children’s hospital Andrew was treated in. We were basically told, as had been suggested while he was in the hospital, that Andrew had a disease that had never quite been seen before...even at this world renown research hospital. Yes, some of the anomalies found were found with other diseases, but he seemed to have a unique combination of subtle and not so subtle problems. A microbiologist friend of ours gave it a name...Andrew’s disease.
Due to our lack of family history of this type of disease and our general good health and healthy lifestyle, we were told this disease must be recessive. That meant my husband and I must carry the same recessive gene for this extremely rare condition. We were told there would be a 1 in 4 chance that our future children would be affected by this disease. A 75% chance of a healthy baby and a 25% chance of a baby with this disease for each pregnancy. Our son’s chromosomes and our chromosomes tested normal. The disease we were facing had not yet been identified.
In the year and a half after Andrew died we had two miscarriages, one at 10 weeks and the other at 15 weeks. We were devastated. Doctors seemed unsure if these were just ‘common’ miscarriages or if this was a severer form of ‘Andrew’s’ disease.
Our fourth baby was a little girl, Elizabeth. At a 13 week ultrasound we found out she had cranial problems, similar to anencephaly. In our case, since our first son had non-obvious cranial problems that were discovered upon autopsy, it was assumed that Elizabeth had a severer form of Andrew’s disease. She also had cystic kidneys. Once again it was suggested that we abort. We refused. We knew she was going to die but we wanted to love her as long as we could. Elizabeth was very small when she died during delivery at 42 weeks. We buried her with her brother.
After another miscarriage at 7 weeks, we found out, around 6 years after Andrew died, that we were expecting another little boy, whom we named Thomas. Thomas seemed very similar to Andrew. His kidneys failed in utero, but he grew better, otherwise, in the womb. Due to his kidneys failing so early in the womb, doctors did not recommend amnioinfusions and would not do them. We were very upset. When Thomas’ amniotic fluid was gone at 36 weeks we met with a perinatologist who said that if Thomas was healthy he would be delivered right away because of the low fluid. The doctor also suggested that if he had zero chance of survival, it might be best to wait. However, no doctor could say Thomas had zero chance of survival. We appreciated that we were given the choice. Thomas was delivered the next day by C-section which we believe was easier on him. He was beautiful. Because of his poor prognosis, we seemed to have to fight for treatment for Thomas every day, as it seemed like we had to do with Andrew. We wanted to give Thomas a chance to survive even though we knew he would not be perfect. Tragically, he also died. He was almost 2 months old. Our sons fought so hard and we are so proud of them.
My husband and I are having a hard time believing we are facing a recessive disease, as all our biological children have died. The specialists we have been in discussion with still believe it is recessive and our losses are within the possibilities of recurrence.
Each of my children gave me a special gift. They made me a mother. Thomas was even able to take my breastmilk. Most importantly however, they gave my husband and me the chance to love unconditionally.