World Rare Disease Day

It’s World Rare Disease Day on the last day of February every year. Before I had kids I not only didn’t know anyone with a rare disease, I didn’t even realize there was a day to try to bring these diseases and the research needed into focus.

Did you know that there are over 400 million people affected by rare diseases worldwide?

Our toddler V has several rare diseases, Incontinentia Pigmenti (IP), Food Protein-Induced Enterocolitis Syndrome (FPIES) and Food Protein-Induced Allergic Proctocolitis (FPIAP). Our newborn K has been showing the exact same signs that V did at her age in regards to FPIES and FPIAP, reacting to different foods through my milk.

Due to this, I want to talk a little about FPIES today and this it is not only impactful for the child, but also on the family. Food Allergy Canada has a great post up about FPIES. It is inflammation involving both the small and large intestine with symptoms including vomiting and diarrhea with a late onset of 2+ hours after ingestion.  “FPIES symptoms can be very serious and can include turning grey or blue, dehydration, and even going into shock. Call 9-1-1 if a child is experiencing these or other serious symptoms, as immediate medical care is necessary. In cases of shock, epinephrine is sometimes used.”

“Other emergency FPIES treatments include steroid treatments and IV rehydration. Children may also have growth issues as a result of untreated FPIES, which must be addressed and monitored by health care providers.”

Skin testing or blood testing does not identify FPIES either, which means it is all trial and error. This can cause a lot of anxiety around introducing new foods. I have seen some kids have food aversions and needing to be in eating therapy just to learn to eat and not be terrified of eating.

Community FPIES Focus is an article posted with a great breakdown on FPIES.

There was a recent poll asked in a support group I’m a part of, “Tell me you’re an FPIES parent without taking me you’re an FPIES parent.” This post has had over 400 heartbreaking comments about how this non-IgE allergy is traumatizing, heartbreaking and so incredibly difficult for everyone involved. I’d like to share a few of the comments. Warning, bodily functions mentioned.

“When we would eat out, most of the family was bunched to one end of the table, with a huge clear & cleaned off area for our FPIES boy, so that he couldn’t accidentally touch anything but the safe food we brought along for him.”

“”Does your tummy hurt?” Everytime she says she doesn’t feel good or starts acting irratic.”

“I get gut wrenching anxiety when my son burps”

“Call about ingredients. Oh, that’s proprietary info”

“What are the ingredients of the ingredients?”

“Cheerios on the floor at the playground- Aaahhh!!! (Cue panic attack)”

“When they throw up and you pray it’s just a stomach bug”

“Constantly telling people “please don’t feed my son” “

“It’s easier to tell you what he CAN eat. The no list is 3 pages long”

“Mommy, when can I have yoghurt like my friends?”

“Overnight bags in trunk with a single blow up mattress. Family sends labels of any food they are buying. So many hospital appointments. Weekly weigh ins for a year. TED diets, swaddle cloths all over the house throughout infancy”

“I make the same dinner with three different sets of ingredients in three separate pots each night.”

“I examine poop like it’s my job.”

“I just spent 4 hours meal prepping special foods for the week and labeling like crazy 😫 every time my kid coughs my heart stops waiting for an acute reaction. I have a hospital bag packed at all times “

“Reading and research every ingredient like a p.i. “

“I never leave the house without a bag of snacks “

“I have a stack of old towels in just about every corner of the house in case we have accidental exposure. “

“I’ve had to google the ingredients to our dog food.”

“My kids daycare sends me the food/celebration schedule a month in advance and we chat that day to discuss what alternatives I can send in so my kids aren’t left out “

“I cried the first time we all ate the same dinner”

“My daughter never had a piece if her first birthday cake !!”

“I have to make everything from scratch and always bring food wherever we go!!”

“My daughter was a very sick baby/ toddler, we thought we were going to lose her 😭”

“My son is 3.5 and has 12 foods. “

“Takes me double the time grocery shopping trying to read every ingredient to try and find new foods for my child to eat “

“I buy 50 million of the same item weekly “

“My grocery bill is 3 times higher than it should be having to buy all these expensive ass foods for my kiddos.”

“Whenever we go out to eat as a family, I always have to pack lunch for my FPIES toddler because ordering food for him is just too risky. Better to be safe than sorry 🤷🏻‍♀️”

“I hate how food centered holidays and social events are. “

“When things were bad…. we made my son around 10 meals a day…. and celebrated when he ate 1 of them.
#foodaversion”

“It’s like being allergic but a different kind of allergy 🤔 lol “

“Babe! Did you check the label!?!?”

“Sorry we can’t eat out at that restaurant ,they don’t offer any of his safe foods there”

“Make everything she eats by hand (no store bought snacks). Also waaaaay too invested in her poops”

“Did you take a pic of the poop?”

“I legit can’t let my husband feed the kids without pre-planning everything
“Send me a picture of the ingredients”
“….it was blurry try again” 🙄”

“At a restaurant…. “STOP TOUCHING THE TABLE WITH YOUR FOOD!” “Don’t touch the wall.” “Let me wipe the table again.” “Let’s wipe your hands again” “Here, eat your home packed meal.” “This is so fun…” 🤦🏼‍♀️😣”

“My daughter has never eaten take out or at a restaurant “

“We’ve got about 4 hours until he starts puking.”

“My sons tummy is distended and he is laying on the floor just sad in anticipation of the pukes (he is seasoned and gets his own bowl) little champ
(… a typical scenario when he has been fed at daycare or by someone who claims it’s trigger free)”

“Them: “relax.. it’s fine! Stop hovering. He’s a kid”
Me: “oh I’m sorry, have you seen a child vomit to the point of shock and pass out? No?””

“I just went on vacation and cooked every single meal, including preparing enough stuff for the 2 day drive”

“I didn’t have to cook tonight!” = “I only had to cook for my FPIES kid tonight!”

“Slimy yellow blowout to the shoulders, in the hair after I just got the car seat washed & back together yesterday 😩”

“Hi! Thank you for inviting my son to your sons birthday party! I know you don’t know me, but can I ask specifically what you will be having at the party, down to the decorations on the cake/cupcakes so I can make/bring my own version for my son?” 😂

“Did you finish eating? Wash your hands please, before you touch your sister!”

“I made my child’s first birthday cake out of boxes because she only had formula as a safe. “

“Vomit PTSD: it’s a thing “

“You breastfed until 3!?”
“Yep. It was the only thing she wasn’t allergic to..”

“You have the pharmacist print out the ingredients before taking medicine for yourself because you are breastfeeding and have to explain that “Yes, medical grade lactose is definitely a problem ingredient no matter how small and broken down you think it is.””

“Hi babysitter (aka trusted family member if you have one). Here is my daughter’s 36 page care plan. Don’t feed anything I haven’t set aside for her. Wash your hands extensively. And I may question you extensively about what her poo looks like. Actually, can you take pictures? “

“”no corn listed in the ingredients” does NOT mean there is no corn in a product. “

“H1/H2 blockers, vinegar poop, acid rash, baking soda bath, terrible sleep, reflux, delayed vomit, only a handful of safes.”

“The ER doctors said “oh are you a first time Mom?” After implying I shouldn’t have brought my baby in for a stomach bug 🤬”

“Don’t let her eat that piece of paper, some ink has soy derivative”

“Checks ingredient list on food items we buy EVERY WEEK, because you never know if they are going to change “

“I’m on a TED (Total Elimination Diet), going down to only several individual ingredients because my baby reacts to the food I eat and she is only a couple months old and fails everything I trial”

This is a small portion of the many heartbreaking comments. I have seen parents scared to have another kid for fear of the same issue or worse.

I made a post last year that goes more in depth on rare disease in general. Check it out here.

I want to close the same way I did last year. I encourage you all to read up about a loved ones disease, rare or not, and know how you can support them. Whether they are in need of financial support for programs, help with just staying on top of their house (due to an even busier schedule than most) or even just taking them out for coffee and listening. Trust me, when loved ones research and are able to participate in a conversation about the condition, bring forward suggestions or ideas and overall just are there, it means a lot!

References

Rarediseaseday.org

https://rarediseases.org/rare-diseases/incontinentia-pigmenti/

https://rarediseases.org/rare-diseases/food-protein-induced-enterocolitis-syndrome/

https://foodallergycanada.ca/food-allergy-basics/food-allergies-101/what-are-food-allergies/food-protein-induced-enterocolitis-syndrome-fpies/?gclid=CjwKCAiAm-2BBhANEiwAe7eyFPrYlFDC8ZAy16jHqPqzEj90PCwLPDj1UgKkxwfzT8PsctszeCcA5RoCPecQAvD_BwE

https://foodallergycanada.ca/community-fpies-focus/

Rare Disease Day

The last day in February is Rare Disease Day, a day to bring awareness to the general public about rare diseases affecting many people’s lives. What I didn’t know until we had V and researched Rare Disease Day, is that 1/20 people will live with a rare disease at some point in their life.

Despite how many are affected, most of these diseases actually have a small group affecting each specific disease, having no cure and most of the time actually go undiagnosed. We celebrate rare disease day on the last day in February, a month with a rare number of days.

So what is a rare disease?

“There are over 300 million people living with one or more of over 6,000 identified rare diseases around the world, each supported by family, friends and a team of carers that make up the rare disease community.
Each rare disease may only affect a handful of people, scattered around the world, but taken together the number of people directly affected is equivalent to the population of the world’s third largest country.
Rare diseases currently affect 3.5% – 5.9% of the worldwide population.
70% of those genetic rare diseases start in childhood.
72% of rare diseases are genetic whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.” (1)

What are the challenges with a rare disease?

Due to such a lack in scientific knowledge and quality information of each disease there are often delays in getting a correct diagnosis. The lack of information also delays appropriate interventions and treatment, causing additional burdens on those affected.
Due to the rarity and diversity within each disease, it is so important for research done to be international so that all researchers, experts and clinicians are connected and able to collaborate more effectively and efficiently. There are several initiatives, including the International Rare Disease Consortium, the European Reference Network, Care 4 Rare (this is a Canadian run program), and EU Framework Programme for Research and Innovation Horizon 2020, that support international, collaborative work.

How will Rare Disease Day help make a difference?

Rare disease day helps to bring awareness to the 300 million people living with a rare disease around the world, and other loved ones affected as well.

“The long-term cause of the Rare Disease Day campaign is to achieve equitable access to diagnosis, treatment, health and social care and social opportunity for people affected by a rare disease.”(1)

At the start of Rare Disease Day in 2008, 18 countries held events, and in 2019 over 100 countries brought awareness to rare diseases by holding events. This is exciting progress.

So how does this affect our family?

As mentioned in a previous post The terrors of being a NICU parent, our daughter was diagnosed with Incontinentia Pigmenti, a rare congenital condition that affects her X chromosomes. This in turn affects her skin, hair, teeth, microvasculature (including her eyes), and central nervous system.
What I haven’t mentioned is that only 1200 people with this condition have been reported in scientific literature. Current prevalence being 0.6-2.1/1,000,000 persons, which is a 0.00006%-0.00021% of the population on earth. (2)

At 6 months of age V was also diagnosed with a rare allergy condition called FPIES (food protein induced enterocolitis syndrome). It is a non-IgE allergy affecting her gastrointestinal system. It causes vomiting to the risk of hypovolemic shock, abdominal pain, and bleeding with diarrhea. Most outgrow this condition by the age of 3, however a small number live with this allergy for life.
From numbers I could find, FPIES is estimated to affect 0.28% of children in the United States currently. Due to frequent misdiagnosis this number is likely low. (3)

Living with a Rare Disease

Living with a rare disease has so many complicated facets. Not only is there little information out there, many doctors don’t know or understand the condition. I go to our family doctor and tell her what I want/need, not the other way around. She actually told me the last time I was in that I am the expert, not her. What is scary about this, is what if a doctor doesn’t agree with what my daughter needs? What if we go to the emergency room needing specific care and they don’t agree with what she needs and ignore our concerns? Things can go from scary to downright dangerous.

Support groups are our life. I have so many support groups, yes on facebook, but they have made our life so much simpler and safer. There is so much information each of us as parents have researched and discovered, so why not share? Obviously it is important to trust your source and do research as necessary to confirm what was stated or suggested, but I have learned so much about new updated protocols to follow, food suggestions and tips on dealing with IP and FPIES in the hospital setting. Due to all of this advice, we were safely able to navigate surgery for V this past January, you can read about it here.
These support groups also are so important for ones mental health. It is easier to shelter yourself and your child when someone in your family is affected by a rare disease or allergy. It is easy to just stay home than to go out, risking your child, worrying about an innumerable amount of risks, trying to explain yourself and your child numerous times. It is so much simpler to shelter oneself. I have found support, people I can vent to, people that understand. It also makes it easier to go out because of advice given.

For many with a rare disease, or really any disease, life is more expensive. We celebrate daily that we live in Canada, where most of our medical expenses are covered by the health care system. Unfortunately this isn’t the case for many across the world. Sadly, our health care does not include FPIES or any allergies under a tax exemption for food expenses. Depending on severity of a condition, it can become very expensive to support the one in your life with said restriction. For us, corn is debilitating. Everything we eat needs to be locally sourced from specific farmers, with specific farming practices. This includes butchering practice and packaging of all food products. Suffice to say, it puts a strain on ones budget.

There are of course the struggles if ones family is not supportive and you have not only no help, but judgement too. Judgement as to treatment options, lifestyle changes, things they can do to help etc.

For many with a rare disease they are undergoing medical treatment that is new, joining medical trials, trying medication after medication. There is often no end to the disease and the start of ones day. So how do you live with a disease and not let it define your life? For everyone that looks so different.

For our family, it means trying to make meals as normal as possible, even if our ingredients are limited. It also means scheduling doctor appointments around our life, rather life around the doctor appointments. We bring food with us to go out instead of just staying home as we can’t eat out. Some struggles we haven’t come across yet, like how we will approach dangerous sports (increased risk for retinal detachment) or for V later in making decisions about having a family (as IP is hereditary and often causes miscarriages).

I encourage you all to read up about a loved ones disease, rare or not, and know how you can support them. Whether they are in need of financial support for programs, help with just staying on top of their house (due to an even busier schedule than most) or even just taking them out for coffee and listening. Trust me, when loved ones research and are able to participate in a conversation about the condition, bring forward suggestions or ideas and overall just are there, it means a lot!

References

(1) Rarediseaseday.org

(2) https://rarediseases.org/rare-diseases/incontinentia-pigmenti/

(3) https://rarediseases.org/rare-diseases/food-protein-induced-enterocolitis-syndrome/