A Parental Odyssey of Rare Disease

“I have cried a lot more in the last ten years of my life than ever before.”  A parental odyssey of rare disease, in two of their three children, and a third child who required three surgeries in the first year of life.

This is the story of a little girl who seemed to have been born angry, irritable, and difficult.  She had loving parents, grandparents, siblings, a pediatrician, and no answers. Her pediatrician could find nothing wrong physically. Was this bad behavior? Did she need more structure? Did she need more sleep? When pain is invisible, how can parents know it is there? Can you imagine what invisible pain 24/7 does to a little one who has no words? 

They tried eliminating foods, acid reflux medication and were even told to just let her cry, all to no avail. Ultimately, her grandfather, a chiropractor, suggested a scan of her adrenal glands. This revealed a large enteric duplication cyst, pushing on her stomach, pancreas and left adrenal gland. It was, in fact, larger than some of her organs.

Such cysts occur in fewer than 0.2% of children and slightly more frequently in males. It is a congenital abnormality of unknown origin and may have been picked up by sharp eyes during a prenatal ultrasound; but it was not. It required a complicated removal during a 5.5 hour surgery resulting in repair to her stomach muscle. She also had a tongue tie revision.

Her youngest brother’s odyssey was different. In his first year of life he had a tongue tie revision, a hydrocele repair, adenoid removal and ear tubes placed. Leading up to these surgeries he had multiple imaging studies done along with a swallow study and feeding therapy.

Just after his first birthday, he developed atypical bruising from his waist to his feet.  This bruising was painful to the touch, and continued to spread and get darker.  Mom and Dad were unwilling to take the “Wait and see” approach suggested initially.  “If something were seriously wrong- I’d rather know now.” Mom asked directly for a specialist. After the pediatrician called around to multiple specialties sharing his story, she was finally referred to a dermatologist who knew right away what it was, but did not know the subtype.

Again, Mom and Dad asked for a scan and discovered that their son had serious venous malformations that even wrapped deeply around his knee. He was subsequently referred to another hospital which had been putting together a team to make a “center of excellence”. Despite the need to schedule childcare, pay additional medical co-pays, take time from work they scheduled the meeting to have the team evaluate him. When they got there, they had a long wait and then only one physician showed up. It was explained that this is very rare and that there were only two hospitals on the west coast that have a vascular anomalies team. This doctor was full of bad news- their son would have swelling pain and blood clots and that things were expected to worsen as he grew.

There is no cure and the treatments would be painful and have a long recovery time.  And then, without even laying eyes on him they said “see you in a year.” Mom decided to do extensive research after being incensed with the lack of help or answers from this team and found that there was a team at Boston Children’s Hospital on the opposite coast that was supposed to be good to consult.

In addition to the venous malformations, their son has severe anaphylactic food allergies that cause complications with adequate blood flow from the constriction of veins from the the epinephrine and steroids needed to reverse the anaphylactic reaction and save his life.  The family has been thinking about how to make a cross-country trip financially and logistically. Additionally, their middle boy had plagiocephaly, (a flat head), from improper positioning in the womb, a tongue tie revision and two sets of ear tubes because of multiple ear infections and eventually removal of his tonsils and adenoids.

For gentle and kind people it is difficult to question your pediatrician, difficult to complain about long waits and broken promises. Still this Mom and Dad have learned to be their kids’ advocates and to be persistent. “At times you have to push to be heard, and push to get some answers. I would love our suffering to be able to help other parents.”

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