Yesterday I grieved with a mother who lost her son one year ago at six months of age.

Today I read a story of a five year old girl, born with an incurable disease, whose parents are honoring her decision to “go to heaven” rather than continue enduring painful treatments.

Two years and 4 months ago, my baby boy was born with a rare disease that required surgery when he was only two days old. Hirschsprung’s Disease (HD) is rare (1 in 5,000) but it is curable with surgery. Basically, HD happens when the ganglion cells do not develop fully or are completely missing in sections of the lower intestines. This prohibits normal paristalsis and quickly leads to abdominal swelling, malnutrition and sepsis. There are degrees of severity to HD called “short segment” (where only a small section of the bowel is obstructed) and “long segment” (sometimes the entire lower GI is dysfunctional).

only moments in the world and already very sick

Living with Hirschsprung’s Disease

Some children live with HD without knowing it. They may have mild symptoms of indigestion or food sensitivity, and it is sometimes discovered after age 5 or even later when they become seriously ill. We were lucky, in many ways, with this disease: Jimmy did not pass his meconium (a newborn’s first bowel movement) and became very sick very quickly after he was first born. I was still in the hospital recovering from the delivery when a team of doctors whisked Jimmy away on flight for life to Denver Children’s Hospital. Sadly, some children die at home from this curable disease because it can manifest so quickly without knowing exactly what is going on.

After many painstaking hours of testing – my newborn on a feeding tube and IV antibiotics – we had a positive diagnosis of Hirschsprung’s Disease. The good news: it is curable. The bad news: they had to surgically remove the section of his intestines that was lacking in ganglion cells, he had to continue on multiple courses of antibiotics, he wouldn’t be able to breastfeed for those first, critical days of his precious life.

In the past, all children who underwent intestinal surgery (sometimes called an iliostemy) end up with an ostemy pouch as a way to redirect bodily waste (since the bowels are dysfunctional). This is where I garnered a deeper respect for the AMA and the incredible money that goes into research, development and training of highly specialized surgeons for rare diseases. The surgery team at Denver Children’s Hospital lead by Dr. Stig Somme managed to remove the diseased bowel and attach the functional bowel directly to the anus – using laproscopic techniques. The result is almost normal bowel function, no ostemy bag and no scars. Incredible.

Jimmy struggled in the first year of his life with frequent hospitalizations and a seemingly endless regimen of antibiotics and daily colonics. Because, in his case, there are still some patches of dysfunctional bowel higher up in the GI that could not be removed, he still requires a special diet that is high in fiber and probiotics. He is also more sensitive to any tummy bug, which will quickly turn into sepsis and require more hospitalizations and antibiotics. But, I remind myself every day, that he is improving, and I thank my lucky stars for the surgery team at Denver Children’s Hospital and for short-segment HD, which is curable.

Cystic Fibrosis

Of course we had another scare when one of his blood tests came back positive for another rare disease: Cystic Fibrosis. CF is a genetic disease that is not curable, occurring in 1 of every 3,000 live births worldwide. CF has an 80% mortality rate with low quality of life. The lucky ones may live to be 50. Cystic Fibrosis compromises lung function, leading to frequent infections and loss of lung mass. Other complications of the disease include There is no known cure for Cystic Fibrosis at this time. Further tests revealed that he is a carrier, but that the CF carrier gene is recessive. (more on Cystic Fibrosis from Wikipedia: https://en.wikipedia.org/wiki/Cystic_fibrosis)

Charcot-Marie-Tooth Disease, and 5 year old Julianna Snow

While we may have dodged another bullet, and we cherish every day that our little one is thriving – more and more children are living and dying with chronic and incurable diseases. Today’s headline brings attention to Charcot-Marie-Tooth disease, a variation on Spinal Muscular Atrophy that progressively paralyzes the extremities, the connective tissues, and eventually the organs, the lungs and the brain. Anyone with MS, Fibromyalgia or other neuropathies can relate to the pain and inability to carry out day-to-day activities. CMT disease is caused by a genetic mutation – and so far has no known preventative measures or long-term cures.

the bravest 5 year old, Julianna Snow, born with an incurable disease

Julianna Snow was born with CMT, and has been fighting it all her short life. I can only imagine the heartache of Julianna Snow’s parents, and the immense love and wisdom in their hearts that allowed them to give 5 year old Julianna the choice: endure more risky and painful treatments, or stay home with her family and “go to heaven.” What a courageous little girl to have endured so much, and to choose home, comfort, and love over the losing battle of her deadly disease.

If I could only ask one thing of my readers, I would ask for your prayers for all families faced with such difficult decisions; to refrain from hasty judgements before stepping into their shoes, and looking at the wider spectrum of health, disease, life and death – the cycles that define our humanity – and to act out of love and kindness for all suffering beings.