Our only prenatal wish was that our second child would be as healthy as our first born daughter Julia. Thus, we were elated when all indications were that he was healthy.

Dylan was born on June 21st of 2011 weighing 7lbs 14 oz. He was beautiful and appeared healthy. However, soon things began to change as he was not breastfeeding well and started vomiting on his first day of life. At that time, I was told he had abdominal distention. He was no longer allowed to eat, had an abdominal x-ray which showed distended bowel loops, and was transferred to another hospital for a higher level of NICU care. After a quick work-up (barium enema, rectal suction biopsy), we were told that he had Hirschsprung’s Disease (HD) and would require emergency surgery within the next few days.

We would not return home from the hospital in two days with our new baby as I had repeatedly told our then nearly two-year-old daughter in preparing her for her new brother. Friends calling, texting and emailing to congratulate us became a source of anxiety and re-telling of what was wrong with Dylan. I felt helpless. I could not even nurse my child. But I pumped frequently, hoping he would soon be able to eat normally. My friend from medical school who has hypothyroidism said something to me in the early stages of Dylan’s diagnosis that was helpful to me. She said “everyone has something.”

I found myself constantly wondering why. Why was Dylan sick?

Did I do something wrong during my pregnancy? Was I too stressed out? Did he have anything else wrong with him? Would he make it through the surgery, and if so, would it cure him? Bodily functions can be embarrassing. What type of control would he have? Would he be continent of stool? Would he be able to enjoy food? Would he be teased in school? What quality of life would he have? I also had serious concerns about his adult life. Would this disease limit the type of work he could choose? Would someone marry him? My husband reassured me that he would be fine and would definitely find someone.

In the NICU, it took hours to get intravenous access, which was finally placed in his scalp after shaving one side of his head. On his eighth day of life, he had surgery. The procedure was started as an endorectal pull-through. But after more than four hours, his surgeon came out to tell us that his disease was beyond his splenic flexure and they needed to continue with open abdominal surgery. Three quarters of his colon was removed to his hepatic flexure and his right colon was brought down and anastomosed. His eight-hour surgery was the longest eight hours of my life. He was later allowed to eat, but continued to vomit and had multiple ultrasounds to rule out pyloric stenosis, which could not be ruled out. Some recommended surgery, which we declined. After his line in his scalp was no longer working, he had a femoral line placed, which lead to a deep vein thrombosis (blood clot) for which I needed to administer twice daily Lovenox® injections for 6 weeks.

It was a very stressful time in our lives.

After three weeks of hospitalization, Dylan was discharged home. The one side of his shaved head continued to remind me of his hospitalization, so we decided to give him a new hair-do: either completely shaved or baby mohawk. We went for the mohawk, which looked beyond adorable on Dylan, and it turned out mohawks were very trendy that year. I found a research study about the genetics of HD being done at Johns Hopkins (https://hdrcstudy.org/home) and enrolled in order to feel less powerless; to feel like I was doing something. A year later our surgeon asked us to join that same study.

Dylan did surprisingly well. He ate well, grew normally and, hit all his developmental milestones.

He had all the reasons to be a fussy baby yet, he was very peaceful. We continued to follow-up with the surgeon, the gastroenterologist, and hematologist (until no reason other than having a line in his leg causing the clot was found). Trying formula was recommended by his gastroenterologist as were some other medications that I did not want to give him at the time. I did try Pregestimil® formula, but eventually continued to breastfeed Dylan which he did until he was two plus years old (in addition to eating solid foods from 6 months on). We did occasionally use Loperamide which Dylan loved. We introduced foods and he was and continues to be a good eater. We do not have any food restrictions for him. We bought many one-pound containers of zinc oxide wholesale and mixed it with Stomahesive® powder to create a thick cream to prevent excoriation, which we used every time we changed him in generous amounts in addition to changing him immediately after stooling. He usually stooled between ten and fifty times per day including many times during the night. I slept with him so I knew when he stooled at night and could change him immediately. I tried to put him in his crib at nine months to make our lives easier as I was about to start my pediatrics residency, and I would not always be there at night. I tried the cry it out method. Once he finally stopped screaming and fell asleep, I checked on him. He was holding on to the side of the crib like a prisoner and he and the crib mattress were covered in feces (his baseline is diarrhea). The crib was thrown out the next day and this confirmed the cry it out method is not for us.

When Dylan was initially diagnosed, I was told he did not need other tests.

I was reassured that Dylan did not appear to be syndromic. I was told that his disease was not genetic. We had no previous family history. My siblings and my husband’s sibling are all healthy. My sister had three healthy children. But the more I read about Hirschsprung’s Disease, especially long segment disease, the more I wondered if there was a genetic component. I saw a geneticist, when Dylan was close to one year old, for RET testing. Dylan had an ECHO (heart ultrasound) and an ultrasound of his kidneys and urinary tract at my request since anomalies in these areas are associated with HD. Dylan has an ectopic right kidney (located in his pelvis) meaning that it is in the wrong place, which hopefully will not cause him any problems.

Meanwhile a year later my nephew was born. I distinctly remember being told that my nephew was not being discharged from the hospital because he had not passed meconium after two days.

At that moment, I knew my nephew also had Hirschsprung’s Disease and the genetics was on my side of the family. I felt sad for my brother and his wife knowing that they would suffer because of their son’s diagnosis. Prior to my nephew’s birth, I had seen a geneticist who recommended RET testing for mutations, which we had already done, but the results were pending. The questions I had for the geneticist were about cancer screening since I had read that some HD patients are predisposed to certain cancers and I wondered if my son should have additional cancer surveillance.

Our testing was sent to Gene Dx and our nephew’s testing was sent to Ambry. My nephew’s testing came back negative for the known mutations to cause HD, but came back positive for a mutation of unknown significance. Entire RET gene sequencing was done on my nephew once the known genetic mutations came back negative. My son’s RET testing came back negative, but they did not sequence the entire RET gene. Only the known mutations were done. My nephew’s mutation was later found in Dylan’s DNA which Gene Dx matched at our request. It turns out my brother and I carry an autosomal dominant mutation in the RET gene which is incompletely penetrant, meaning that we both carry the gene, but do not have HD. This mutation of unknown significance is what caused HD in my son and nephew. It is hard to know as a mom that I gave this to Dylan; that unknowingly it was my fault he has HD. The geneticist reassured us that Dylan has no increased risk of cancer since his mutation is a loss of function rather than gain of function mutation.

When Dylan was seventeen months old, our entire family took a two-week trip to India for our friends’ wedding.

I brought all the possible antibiotics our children might need and intravenous fluids which my husband or I would be able to administer to our children if needed. We were careful in India, staying only at the best possible hotels and drinking only bottled water. Only my husband had gastroenteritis during our vacation. However, on the flight home, I started vomiting, then Dylan started vomiting, and then Julia started vomiting. Though in retrospect, it may have not been in our best judgment to take Dylan to India, we have always wanted to make sure he is able to travel and experience everything he possibly can in life.

When Dylan was eighteen months old, I came home from work and Dylan looked more tired than usual.

Our family had dinner plans, which we did not cancel. Dylan did not eat anything at dinner, which is unlike him, and he continued to be lethargic. Once we arrived home, he started vomiting. We texted our surgeon in the middle of the night and were told to bring him to the hospital. He was admitted to the hospital. One month later, Dylan had an evaluation under anesthesia which included Botox® injections and a repeat biopsy at the same time. This procedure would have been done sooner, but I was hoping his obstruction would resolve and he would be able to stool on his own with irrigations, which we had never learned to do until this hospitalization. In retrospect, I wish we had learned how to do irrigations and received all the supplies needed when we were initially discharged from the hospital after his surgery. I wish we had known how to do this before he became obstructed and was suffering. Between his hospitalization and the Botox®, we were doing a month of rectal irrigations three times daily at home. We did some dilatations after asking our surgeon about them since this is what my nephew required, but discontinued after a short time. Irrigations are messy and time consuming, but he needed them and it was lifesaving. The biopsy came back normal.

We were happy with the results of Botox® which Dylan has had three more times since.

However, the second time Dylan became obstructed and had uncontrollable voluminous vomiting, we irrigated him ourselves at home. This time, Dylan even asked to be irrigated (he was in so much pain). By the time, we brought him to the hospital, he was completely comfortable. In the ER, he had no abdominal distention since we had irrigated him well. The last two times, we just irrigated him at home without going to the ER and scheduled the Botox® which is always done under anesthesia. Dylan’s last Botox® injections were a year ago. I worry about all the anesthesia he has received over his short lifetime and hope he will not require any more.

Dylan is four years old now. He still wears diapers, but is toilet training well so we are optimistic and confident he will be continent. He has diarrhea which is explosive, but he is stooling much less than before (one or two times per day). He is proud of pooping on the potty. After going on the potty, he gets a reward. Potty training in any child’s life is a big milestone, but in Dylan’s case and other children with Hirschsprung’s Disease, potty training is much harder. So when Dylan is fully potty trained, we plan to mark the occasion with a celebration.

My husband and I decided to have a third child, which like all of our children was planned.

We met with a genetics counselor and did our research. We could try to get pregnant, test early, and terminate the pregnancy if the fetus has the gene, or keep the baby if it has the gene (we would only know if the baby has the gene, but would not know if the gene was penetrant meaning if the baby has the gene, the baby could be either a carrier or have the disease) or go through hormone treatments, ethical dilemmas, and enormous amounts of money and stress for pre-implantation diagnosis and in vitro fertilization in attempt to ensure a baby who neither has the disease nor the gene. We opted to just go for it the natural way and hope for the best, knowing we could raise another child with HD but would prefer for our child’s sake and our own not to have to do so.

From the research articles I had read, I determined that each of our children has a 50% chance of carrying the gene, which is 70% penetrant in males and 50% penetrant in females.

When we found out our child was a son, I determined that he had a 35% chance of having the disease. 50% chance of inheriting the gene from me, multiplied by 70% penetrant since we knew he was a boy. Our geneticist agreed this was a conservative assessment. We decided not to do amniocentesis unless indicated for other reasons since it would not tell us if he had the disease. It would just tell us if he had the gene and we would not do anything differently with those results (we wanted our baby with or without HD). We did not need an amniocentesis. This was a normal pregnancy like my others until toward the end when I had an ultrasound which showed polyhydramnios (too much amniotic fluid) which can be a risk factor for pre-term labor and can be associated with congenital anomalies. I was retested for infections that can lead to polyhydramnios. All of those tests were normal. I found case reports that showed prenatal ultrasonographic findings of HD and was seen by the maternal fetal medicine (MFM) doctor, who looked at the GI tract of our baby at 34 and 36 weeks. The stomach and intestines appeared larger than normal, however the GI tract is not often examined at this stage in pregnancy. The MFM doctor told me she would be worried knowing the baby’s risk factor and these findings, but that she did not know.

My husband and I were convinced that our baby had HD.

We were prepared to help him lead the best life possible as we are trying to do for Dylan. But at the same time, we were sad. Our youngest son Jared, appeared healthy and vigorous at birth. Pediatricians came once the baby was born to evaluate him because of the abnormal fetal ultrasound. Cord blood was sent to Ambry to test if he had the gene for HD. After nursing him, Jared was taken to the nursery. The pediatrics team came to tell us that he had stooled within a few hours of life. I cried happy tears. The surgical team was also made aware of our baby’s risk not only by us but by the fetal maternal medicine doctor. Dylan’s surgeon came to evaluate Jared on his first day of life and it turned out he was a poop star! He had already stooled about eight times on his first day of life, which was reassuring. After a week and a half, Jared’s cord blood testing came back which showed he does not carry the gene. We are thankful Jared does not have HD and is also not a carrier.

We are grateful that Dylan is doing well and we want for him what we want for all of our children: health, happiness, and to be a good person.

We are thankful he was born in this country, at this time, has had excellent doctors, and good luck. We are thankful that we had some medical knowledge to help navigate this disease. As a new doctor and a fourth-year medical student at the time of Dylan’s diagnosis, my husband and I had medical school knowledge about the disease. We knew from our studies that Hirschsprung’s Disease was aganglionic megacolon involving the rectosigmoid (but our son has long segment disease) and the treatment was surgical resection (however it’s a chronic disease and surgery is not always completely curative as many patients including our son have post-surgical problems). We are thankful we live in the digital age so we can read about adults with HD leading good lives or connect with experts in the field with our questions.

We wish he did not have the disease, but we would rather have him with the disease than not at all. We hope that by the time he wants to have children of his own, there will be a better treatment for the disease as so many HD patients have post-operative problems and suffering. Most of all, we are simply thankful that Dylan is in our lives.

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