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In regards to Rare Disease Day...


Thousands of families struggle every day with these diseases which have low prevalence, but dramatically affect the quality of life for these patients and their families. And we used to be one of them.
  • Author Company: Blue Consultants
  • Author Name: Carla scaramella
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Editor: Carla Scaramella Last Updated: 02-Mar-2021

I believe campaings asking to wear colors for any condition or disease are sometimes insufficient. In my opinion, the only way to raise awareness is to speak loudly, clearly -and realistically- about any condition, although the colouring tools might be a plus for raising awareness.

I’m a mom of a Hirschsprung Disease (HD) child -who passed away at the age of 14 months- and also a healthcare professional. I’ve always been silent in regards to HD awareness because I thought the tragic ending of our story would be hopeless for other parents on the same road. On the contrary, today I believe all I’ve learned should weigh more than our loss -and it’s also a way to keep on writing Augusto’s (my son) and our family’s story-.

Explaining Hirschsprung Disease in “a few” words (good try! ☹)

HD is a congenital bowel motility disorder in which our baby lacks the nerves needed for having bowel movements. It is often diagnosed shortly after birth, as our newborn won’t have a bowel movement within 48 hours, together with a swollen belly, gas and vomiting. Sometimes, symptoms become apparent later and our baby will experience chronic constipation and swollen belly. Once HD is confirmed through colon biopsy, the treatment will be a surgery to remove the diseased part of the colon and allow our baby to pass stool in the usual way. In some cases, surgery is done in two steps, meaning that our baby will have a temporary stoma -an opening in the abdomen from which stool will exit from the colon- until the final surgery could be achieved. After surgery, some complications might ocurr which include diarrhea, loose or leaking stools, diaper rash, constipation, delays in potty training and -parents’ terror- enterocolitis.

Like Hirschsprung, all rare diseases have in common the large interindividual variability in prognosis and the multidisciplinary approach required; therefore, these tips might be useful for all rare disease childrens’ parents:

-Read, ask, read more & ask more -but slow down-. Although there’s plenty of information in the web, we should seek for scientific and reliable sources. In the attempt to gather more information, we might came across sponsored or misleading websites. Our child’s physicians might provide us with trustworthy sources to learn more about the disease. Let’s not be shy about asking them for sources!

We could also search for Patient Advocacy groups or patients’ support groups to share experiencies with other parents. Also, we should learn when to stop, as every child is unique so every experience would be unique as well -also depending on local healthcare approaches and standards of care-. However, at the end of the day, I´ve learnt the only one constant is to keep trying different things until the solution for our child is found. 

-Take notes to turn the subjective into objective judgements. It’s difficult for doctors to measure what we report as “frequent”, “a lot”, “very few”, so if we find out something is not “normal”, we should TAKE NOTES. This would be very useful for our child’s doctor to get an accurate picture of the ongoing situation. Drs. often receive very concerned parents who have spent hours consulting “Dr. Google”. So providing him with records of signs and symptoms, frequency of ie. depositions, vomits, unwillingness to eat/play, lethargy, diet changes vs. stool consistency changes -and a long etcetera- would be very helpful. Keep in mind to set a specific timeframe for these measures accordingly.

-Be the “rare disease team leader” for our child. Of course, the ideal situation would be to treat our child at a Centre of Reference, where each healthcare specialist knows his/her role and everything goes smooth. However, this is actually the exception and not the rule, so we cannot expect -for example- the phyisician that receives our child at the emergency room to address HD right away as a specialist would. Then, we should be the link between him/her and our child’s pediatrician /gastroenterologyst /surgeon. HD needs a multidisciplinary approach, and the same would be needed in case of any emergency, so we should enhance all the specialists to collaborate in a timely manner. In this sense, it’s essential to have the chronological compilation of all our child’s medical chart neatly organized: initial diagnosis studies, surgery procedures and hospital discharge summaries (including lab reports and images). If for some reason, we need to switch any of the treating physicians -or Healthcare Institution- for our child, it is essential we count on a detailed medical chart; not to mention how crucial would this be for completing all the medical insurance paperwork and further request for disability certificate.

When Augusto was born, as he had Down Syndrome (DS), many friends who were doctors told me we were lucky he didn’t have any heart deffect -as around half people with DS do-. But then, going through HD diagnosis, surgeries and their complications made me think it would have been better for him to have a congenital heart disease, rather than HD. And I was sadly right.

I wish our story -which reflects the experiences of many parents- serves as a call to attention to our healthcare professionals and systems, as there’s a high unmet medical need for Hirschsprung Disease patients.

It´s very frustrating for our families to pilgrim from one professional to another; waiting one month for our surgeon’s appointment and not getting any clue on some feeding disorders we are struggling with; then expecting our gastroenterologist appointment and hearing it would be better to have a consultation with a nutritionist…and so on.

Maybe we are getting things wrong while scheduling our childrens’ doctors appointments, but if this is the case, we need our primarycare pediatrician to guide us through what to address with each of the specialists -basically the so called “patient’s journey”-, as well as to lead interactions among the essential multidisciplinary team to treat our children.

We already know that this battle is ours, but you are our most valuable weapons and we need you to be organized as a squad for it. Please be our allies in getting throug Hirschsprung Disease! Our children deserve it.

Learn more about Hirschsprung’s disease on the following links: