What to Expect when your Child has a Rare Disease

So your child has a Rare Disease.

By it’s very definition, that means not many individuals have the same set of medical circumstances as your child which in turn, means there are little to no resources or supports available to you or your family. Here are some preparatory tips:


There are no parenting books that will ever speak to the nuances of your child’s condition. There are no books titled “What to Expected When Your Child Has a Rare Disease”. Books about parenting an average healthy child will break your heart, cause disillusionment and frustration … because future-oritened parenting for a child that might be futureless (see Emily Rapp) makes parenting in this way, simply impossible.

You have a new goal for your child: survival.

Theories and Models on parenting have a fatal flaw: they all assume children will grow-up to be healthy adults and so, they gear parents towards future-oriented thinking namely around achievement and success. Think Tiger Mom. Parenting quickly turns into a competition for the best pre-schools, aggressive contributions RESPs;  play-dates, guitar lessons, ballet classed, trips to museums. This is the standard of a ‘good’ childhood by the ‘good’ parent. And it is completely out of reach for most Rare Parents.

Parenting a child with a Rare Disease starts by mourning the ideals of parenthood. Your role as a parent is jeopardized by other impending roles as Nurse, Geneticist, Advocate, Insurance Specialist, Policy Maker and Health Care Coordinator … your identity as ‘mother’ is no longer. You are the mother of a Rare Child and so, you will evolve into the Renaissance Mother of your sick child. There are few rules of parenthood that apply to you and your child. Attachment Theory offers little resolve. Child Temperament and Parental Style don’t speak to you. Has the sick child or the Rare Mother been embedded within these models? No. So we begin our journey completely lost at sea.

Rare parenting is different. Today you will learn about NG tube insertions and drug interaction effects, tomorrow you will learn the signs of Uremia and Cardiac Distress and in the near future, you will built a myriad of schema associated with hospital stays and parenting by observation (e.g., looking at your child through a NICU incubator or within recovery). There is no book to help you navigate these rough waters; only intuition. I suggest you start following this intuition pretty damn closely; It’s all you’ve got to navigate this diagnosis.


This is not meant to be negative or defeatist, just real. You will burn through sick days, vacation days, unpaid days, leaves’ of absences and it still won’t come close to giving you the time you need to care for your Rare Child. Our world is not designed for mothers and is particularly malformed to handle mothers of sick children.

The impact of this career disruption will cause Employer Fatigue (running out of ways to help or the desire to do so) and as a result, you will find a few things happen: increased sense of job insecurity; decreased progression or promotion in your field; reduced hours and overall, a lack of concentration and productivity resulting in sub-par performance evaluations. Parenting a sick or dying child has no place in todays workforce. 

With progressive diseases, prognoses get worse over time, naturally. This means even more hospital stays over the years to come and even more decline in your child’s mobility, independence and ability to be cared for by daycare providers, grandparents and specialists. Inevitably, there will be a move towards total incapacitation (e.g., dialysis at home; awaiting transplant in stage 5 CKD). Caring for a critically ill child requires a full-time mother and this is in direct conflict with being an Employee. The time will come when you will have to give up work in some form. Prepare as best as  you can. Learn about available leaves’ of absences and research programs to help parents with sick kids.


You’ll find yourself in the peculiar position of educating medical professionals about your child’s disease (e.g., family doctors, pediatricians, nurses, ER doctors, sub-specialists each handling a separate element of your child’s condition; family members and employers).

Learn as much as you can WHEN YOU ARE READY. It took me 3 months before I could look to the literature to handle the grim statistics and pessimistic outcomes. Politely ask friends and family to avoid the urge to share information they’ve learned about the disease with you. Until you are ready to deal with the hard facts, it’s just not helpful.

Start with primary medical journals: the most reliable information on rare diseases. Then move to data banks like ORPHAN NET and Global Genes Project for secondary literature. Eventually, you’ll discover that disease specific information isn’t all that can inform you but rather, common experiences in parenting chronically and chronically ill children from other parents can be invaluable.

Know the discourse. Know the nature of the genetic mutation. Know the assumptions, prognoses and typical approaches to clinical management. I can’t tell you how many times Specialists asked ME: “what do you think” or “what should we do”. It’s horrifying to be in this position and it’s a weighty burden. Building confidence by becoming your child’s specialist is instrumental for securing informed and accurate health care for your child.


Rare Parents are scary. You’ve endured every parents worst nightmare and you continue to live it everyday. Your normal day includes administering medications via syringe, tightening g-tubes; programming feeding pumps and long stints in the hospital. Your goal is to get your child to the next stage of their disease with grace and dignity. Your future involves more hospital visits and the eventual full blown presence of your child’s potentially fatal disease. Your worries are severe. Your stress is profound. Your life is extraordinarily challenging. This reality is hard for friends, especially  friends who are parents of healthy children.

You’ll find your social circle gets smaller. Friends with children won’t talk to you about parenting. They won’t bother you with mundane questions about caring for a child with a fever or common cold. They won’t approach you with their worries about entering pre-school for the first time or how to address Junior’s maladaptive attachment issues. Your worries are big and theirs are small — friends will simply  fad away from parenting with you. These friends feel guilty for having a healthy child in front of you. Never mind that you also parent a healthy child, you’ll begin to see friends fad away and spend time with other parents with healthy, easy to be with children. Try not to take this personally.

The greatest gift of Rare Parenting is the realization that you’ve inherited decades worth of parental wisdom in a short period of time. When you see parents fuss and worry over Junior’s inability to put a puzzle together at age 3, or concerns over limited vocabulary, you look at them with endearing eyes as though to say “you have no idea, be grateful for every breath they take, for every piece of food they ingest on their own, everyday spent outside hospital walls” — I can imagine this look gets pretty tiresome.


With friends dropping out of your social circle, it’s a good idea to find one parent just like you: caring for a Rare Child. We were told that Scarlett was the only known case of BOR Syndrome in the Niagara Region. Looking for local support groups then, was not an option.

Online communities are a good place to start: facebook groups, disease specific websites, organizations dedicated to Rare Disease Awareness like the Global Genes Project. I was lucky enough to find another Rare Parent when looking for a protective gtube cover. The owner of a business dedicated to helping children with feeding tubes, this parent reached out to help me when I was struggling and she continues to be the person I seek out when Rare Parenting overwhelms. Fellow Rare Parents understand the real fear of losing a child to the disease and they let you be scared, unapologetically.


A common occurrence for Rare Parents are road blocks.

Can’t find a specialist for your child? Take the time to educate and train your Pediatrician. Can’t get specialists to step outside their medical silos to discuss your child’s global health care? Force them together and disseminate coordinated information amongst them; facilitate joint surgeries to avoid unnecessary sedations. Can’t get your child fed in preschool? Present the gap in local services to the Ministry to secure medical assistance for g-tube feeds in a preschool setting; write the policy yourself and forward it to agencies and the government. Can’t find a book that addresses your child’s existence, write a children’s book. Can’t find information about your child online? Start an online community. Feel as though your child’s disease makes people uncomfortable? Take the most beautiful photographs you can and plaster them everywhere.

Get comfortable blazing trails. It’s the backbone of Rare Parenting. 


You’ve read articles, textbooks and every online resource you can find on your child’s disease. Now look to literature, classic novels, poetry, philosophy, great works. The themes of your life have already been captured so beautifully and when you read them from this vantage point it will build a sense of hope and strength. I promise it will.

I continue to find my voice in stories like:

Frankenstein Mary Shelley

The Last Battle C.S Lewis

The Bed Book Sylvia Plath

Catcher in the Rye J.D. Salinger

To Kill A Mockingbird Harper Lee

The Old Man and the Sea Ernest Hemingway

Rumble Fish S. E Hinton

The Fault in Our Stars John Green

Mother Night Kurt Vonnegut

A Happy Death Albert Camus

Read and Read and Read. It will save you.


Like all cliches, finding an outlet can simultaneously help you escape and work through your unique position as a Rare Parent.

In my desperate attempt to document every moment of Red’s life I found voice in the medium of photography: it managed to say, much more simply, what I felt. Photography has become a narrative for me, it helps me tell a story without cumbersome words. Most importantly, thinking of life in photographs has quiet literally, helped me slow down and see things as a camera or lens would. It keeps me in a state of hyper-awareness with my girls: the little expressions, the small gestures, the tiny fleeting moments between them, the range of emotionality in a single day … I’ve found a lot more good than bad as a result.

I’ve also made a concerted effort to photograph more in the hospital, our home away from home. Most family members and friends cringe. They say “why would you ever want to remember that?” “why did you want to capture that moment?”. In short, because it is our life. It is HER life. The best means I have to empower my girls in their perpetual fight against a sure to win disease, is brutal reality. We frequent the hospital. Her body is full of scars. Pain is a part of medical practice. I’m not lying to her about this, ever. And I am most certainly never going to shy away from the ugliness of it all because it’s hard to digest. I’m going to take hospital photographs so we can remember all that we endured, together. I want her to feel accomplished because of it.

So find a medium. Find an outlet. Create. Be artful. Make things with your hands. Write. But do. That’s my best advice for self repair. 


2 thoughts on “What to Expect when your Child has a Rare Disease

  1. Carole, I am honored to be your “person”. We have a bond that most people will never likely be able to understand. Our hearts have felt heartache that can’t be put into words. And our eyes have seen what no parent should have to. I can’t imagine walking this path without your support. Thank you, for being my friend, and allowing me to be yours. ♥

  2. Hi Carole, Thank you for stopping by my blog. I am reading yours when I can and I see so many common threads from when Mathew was young. He wasn’t ill back then but his disabilities made our life circle close up until it was just a few people. It apparently did a great job of preparing me for today’s journey. Your situation is devastating in that your daughter’s rare condition was apparent immediately so you were thrown right in. The grace, wit and beauty you share your lives is gratefully read by the rest of us. Having one person who truly understands makes so much of a difference, doesn’t it? I am glad you found someone to lean on. Mathew with his rare cancer AND his disabilities makes him a bit more unique in treatment; I speak on his behalf which a lot of professionals don’t care for. I totally get your trailblazing post; been there and still doing it.

    It does take just one person to change the world.

    Thank you for letting us peak into your daughter’s life. We must educates ourselves to all matters so affecting our children and press on for a cure. Not one child anywhere should have to suffer like this. EVER.

    Sincerely, Mathew’s mom, battling Ewing’s Sarcoma of the spine

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