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/

How do you prepare for your child’s surgery?

I don’t know about you, but I am the type of person who needs to know the pros and cons, and all the potential side effects and worst case scenarios. It helps me to just feel prepared for anything.

This actually really seems to bother my husband sometimes as he feels I am dwelling on the worst case, fearing the worst for no reason. I don’t know how to fully explain it but for me, I’d rather be prepared for the worst and get to celebrate the best than be so unprepared that I didn’t see the situation coming.

So why am I sharing this? We drove this week to the BC Children’s Hospital to see several specialist involved in V’s care for her genetic condition. This involved meeting an ophthalmologist surgeon who performed surgery on Thursday. We also met with a neurologist to confirm sure isn’t having any neurological complications of her vision and had an EEG to confirm and a requisition for an MRI to get a baseline of her central nervous system.

We have 10 doctors who are involved in V’s medical care, most of which have been supportive and helpful. Most of our appointments have been the perfect example of a supportive medical team.

But that isn’t always the case. We are so blessed to have such an amazing team. This week, meeting the two new specialists, as well as everyone involved in her care in the hospital during her surgery, including anesthetists, medical residents, and nurses to name a few, was nerve wracking. What if they aren’t supportive in our struggle with her uncommon allergies, what if they won’t listen to our requests for specific meds, for the necessity in certain IV fluids, food etc.

For anyone that wants to know about corn allergies and what hospital treatment and care looks like check out the following links:

Emergency Room Protocol

Hospital and Medical Safety with Corn Allergy

ER Safety: Emergency Medical Treatment with a Corn Allergy

So how did we prepare for surgery for our little girl? For starters, we have a “care plan” for lack of a better word made up for her. This includes her daily routine (which is helpful if we have people watching her), emergency numbers, medical conditions, allergies, including her safe foods that she can eat and where we buy them, the emergency room protocol for corn allergies, what to do in case of an anaphylactic reaction or a FPIES reaction, and information on her genetic condition, IP.

We also brought copies of the protocol to give to the anaesthetist and doctors, including a list of safe and unsafe things for her. This included medications, IV fluids and other practices.

Obviously not everyone needs to have all of this if your kid doesn’t have allergies affected by hospital care. So what can everyone else do to prepare?

We always prepare before any appointments by writing down concerns we have, things we have questions about, and ask about potential complications with any procedure that needs to occur. We talk about in emergency situations what steps would be taken or how long a procedure would take and what recovery will look like.

Often times doctors have done a procedure so many times that they forget that us as parents or patients are worried or don’t fully understand exactly what they are going to do. Don’t be scared to stop them from leaving, ask more questions, ensure that you feel comfortable with everything that is going to happen.

One thing I haven’t mentioned yet is surgery start times and fasting. When your kid doesn’t understand why you aren’t giving them food when they keep asking for it, it is so difficult. Thank goodness V was able to be distracted by a walk, playing with toys in the waiting room, more walking, and watching a little TV. If that didn’t work, I don’t know how we would have made it so long. She was starved.

I always hoped and prayed that I wouldn’t have to experience the fear of walking away while my child was put to sleep with anaesthetic for a surgery. It is a scary thing. We talked about who would go in with V to hold her while they put the mask on and put her to sleep with the medication. That was a hard decision for me. Do I want to be there while she is terrified and then walk away with her unconcious?

So what do you do while you wait? Well I wanted to keep my mind busy, so we actually went and ate our packed lunch. We were a couple floors down and I knew they had our number. I needed to be distracted. Obviously not everyone can eat when their little one is in surgery, so what else can you do?

We packed a couple small card games to play and our books to read. And obviously we had our phones as well. V’s surgery was only 45 minutes, so we had no issue filling that time. Just do whatever you need to do. If you need to leave the ward or if you can’t leave just in case, those are both ok.

If you bawl your eyes out the whole time or never shed a tear, you are an amazing parent. It isn’t easy having your precious child in surgery, whether it is major surgery or something simple, it’s scary. Feel what you need to feel and don’t feel embarrassed.

Getting to see V after surgery was so heartening and heartbreaking. Be warned that it may take a while for them to feel ok, to settle in. It took V about 30 minutes to calm down and feel better. I’m going to be honest, I am so thankful we are still breastfeeding as it was such a simple, easy way to help her stay calm and feel safe.

So what am I trying to say with all of this? Maybe just that surgery is terrifying and it’s ok to be worried sick. Do your research, find all your answers before hand, and know that those doctors only want what is best for your little one.

Banana Chocolate Chip Muffins

Anyone else have a hankering for banana chocolate chip muffins lately? This is my go to breakfast/snack. I always have premade muffins in the freezer and several in a container on the counter at all times.

I love banana muffins as you can use up those older bananas that you don’t really feel like eating anymore. I usually throw them into the freezer until I have enough to make a double recipe.

What is your favorite muffin?

Banana Chocolate Chip Muffins

  • Servings: 12
  • Print

Ingredients
4 ripe bananas, medium or 1 1/3 C mashed banana
1/3 C melted butter/vegan butter, cooled (I use miyokos) (1)
2/3 C cane sugar
1 egg/egg replacer
1 tsp vanilla (2)
1 tsp baking soda
Pinch of sea salt (3)
1 1/2 C all purpose flour/GF flour (I use Gluten Free All Purpose Flour)
1 C chocolate chips (I use Cuisine Camino Semi-Sweet Chocolate Chips) (4)

Instructions
1. Preheat oven to 350 F
2. Grease your muffin tins (5)
3. Peel bananas and throw them in a big bowl with melted butter and smash it all together with a fork or potato masher
4. Blend until it is creamy and smooth with no chunks
5. Add sugar, egg, and vanilla and mix until just combined
6. Stir in sea salt and baking soda
7. Add flour and chocolate chips and mix until just combined. Do not overmix!
8. Divide into muffin tins & bake until toothpick pulls out cleanly, about 18-20 minutes.

Notes
(1) Dairy & Corn Allergy – Depending on allergies use whatever butter you need. There are several options: MELTEarth BalanceMiyoko’s, coconut oil, goat butter). Beware of salt in butter if corn allergic (look for sea salt/unsalted). Many of vegan butter have corn derivatives.
(2) Corn Allergy – Vanilla is made with alcohol, often corn, you may need to make your own
(3) Corn Allergy – Many that are allergic to corn are sensitive to iodized salt as corn is used in the processing. Sea salt is better, but some are still quite sensitive.
(4) Corn Allergy – During the dutching process to create cocoa, it is treated with ph balancing agents, derived from corn. It is difficult to find safe cocoa or chocolate chips. A couple of corn lite options: Cuisine Camino, Equal Exchange.
(5) Corn & Soy Allergy – PAM is full of contaminated corn oils and soy oil. I use safe oil & grease with my hands. You can buy oil mister bottles and fill with your own safe oil as well.
I don’t line my muffin pans as it isn’t needed. They hold well on their own, and often they are too greasy to stick anyways.

When maternity leave ends

I’m laying here, trying to relax because I have to get up tomorrow before 5 am for my first work shift since my little girl was born.

I spent the evening panicking. The house is a disaster. I had no food in the fridge for supper let alone meals for tomorrow for me, hubby and little V, as well as grandparents who will be watching her.

I’m worried about all of her allergies, what if she has a reaction and I’m not there, what if , what if, what if. All I can do is give all the information to those watching her and pray that they will watch her like I do. I seriously don’t know how allergy mom’s cope.

I’m still a breastfeeding mom, so what will pumping look like, especially as a nurse. Will I find time to pump? Will my co-workers be ok with me leaving the floor to pump? Will V take to the bottle ok? Will I start to hate pumping and quit breastfeeding because of it?

So many thoughts and issues arise when returning to work, especially after being off for a year! I’m utterly terrified to start a new job with new co-workers especially since it has been over a year!

I don’t feel ready to return to work. Will I ever?

It’s so easy to wallow in the guilt of returning to work. Am I making the right decision? Should I just stay home forever? Will I negatively be affecting my children by working? I have absolutely loved being a stay at home mom for the past year. I feel so blessed to live in Canada where this is an option, to stay home for 12 – 18 months after having a newborn.

For moms putting their littles in daycare, I can’t even imagine. For someone you may not know well to watch your kids day in and day out, feeling like you don’t get to see all these new changes that are happening. Wow. You are so strong to do what you need for your family!

We are blessed with me being a nurse and being able to have the option of just working casually, so V going into daycare just didn’t make sense for our family. What that does mean though is worrying about who will watch V, whether grandparents can come, or if J will stay home from work that day and “work from home” (not sure how effective he will be lol).

I keep trying to remind myself that it is like any other day that her grandparents have watched her. Like any other day. Like any other day. It’s on repeat in my head but it doesn’t seem to be getting any easier.

I keep reminding myself she will be safe, she is loved, she won’t remember all these days I didn’t see her at all due to 12 hour shifts. I keep reminding myself that it’s ok to miss her little arms around me, or to look at photos during the day and want to bawl. I keep telling myself it’ll get easier as time goes on.

It is ok to work, it is ok to have a life apart from your kids. Healthy even. I have been dreading/dreaming of the day I get to return to work, and have a purpose other than keeping my child alive and loved.

Is it going to be difficult, heck yes. Is it ok to bawl and miss them, 100%. Is it ok to look forwards to leaving the house, for adult interaction, totally. Is it ok to blame yourself or doubt your love for your kids because you are a working mom, absolutely not.

Whatever you have to do for your family, whether that means working casually, part time, full time. Whether you have family watching your kids or they have a nanny or are in day care. Just know, you are doing what you need to, in the now, to raise and protect them. Just continue to show your children how much you love them, and enjoy every moment you have together as a family.

That is what I am trying to do, live in the now. Will I cry tomorrow, an absolute guarantee. Will it be hard to not see my precious daughter, totally. Does it suck being a pumping mom, totally! But we do what we gotta do.

Don’t let that mom guilt bring you down. Revel in the moment with your family ❤️ that’s what I am doing.

Allergies and Mental Health

Did you know that people can get PTSD due to allergic reactions?

Did you know that young kids with allergies often REFUSE to eat new foods for fear of an allergic reaction causing the to become picky eaters and at a risk for malnutrition?

So this post is for all those that have stood in the grocery store and sobbed because you can’t find anything for your family to eat that is safe.

For those that are stressed about money because your grocery bill skyrocketed since allergies were diagnosed.

For those that feel like you never leave the kitchen because you have to make everything from scratch to ensure it is safe for your family.

For those that stay at home instead of going out for dinner at a restaurant, because the thought of eating there or having your kid eat there and react makes you have a panic attack.

For those that stress every time their kid is playing anywhere that isn’t at home, wondering if someone ate something recently that your kid is allergic to…what did they touch? Will you be judged for wiping down everything in the area? What is too much? And then wondering if it might better to just stay home.

For those who decline invites to friends houses because you don’t know how well they clean and you don’t want to offend them by requesting they clean everything first.

For those who want to get frustrated with toddlers who aren’t eating in a high chair and are running/crawling around with their food; everything they are touching is now contaminated and a risk for your child or you. (Trust me I’ve been guilty of this too).

For those who try to act all cool in public but inside you are panicking about everything.

For those that carry an epi pen at all times because you never know when you might need it and the thought of being without causes you to break out in sweats.

For those who panic about trying new foods or starting new trials for ingredients, unsure what the reaction will be.

For those who constantly run through what to do for an anaphylactic response because you are worried you will miss something important.

For those that hear an ambulance and cringe inside, having flashbacks and reliving of previous reactions and the terror it causes.

For those that second guess everything, wondering if something could be related to an allergic reaction or if it’s in your head. Is that a rash, hives, a bug bite or a scrape?

For those that can’t go out in public without wearing an N99 mask because you are airborne reactive to many foods.

For those that are harassed at work or disrespected due to allergies meaning you no longer have a safe work environment.

For those who have to pay an arm and a leg to get medications compounded specially so that they are safe for you to take.

For those that are told that your baby can’t react to food through your breastmilk, to just eat whatever you want but your baby is in pain and screaming, so what else could it be.

To those who religiously check ingredients and stress about what’s in their food.

To those who have misread, or don’t reread a label and have such guilt for feeding their child something that could have killed them.

For those who have nightmares of accidentally killing their child by improperly checking ingredients.

For those that have family that doesn’t respect your boundaries you have put up to protect you or your family and put you at risk, causing you to feel unheard, alone and always in fear.

For those that don’t have a supportive spouse or significant other, to not have someone else looking out for you.

What many may not know or understand is how much allergies can affect ones mental health. I sure didn’t. I thought I understood as I discovered my allergies to gluten and dairy while in highschool and I thought it was the worst imaginable diagnosis.

I didn’t truly understand until my daughter was diagnosed at 3 months of age. I spent so many nights holding a screaming baby and bawling. I would go to the grocery store and sob over my empty shopping cart because my normal staples we couldn’t eat anymore and I had to start from scratch.

Allergies are debilitating. They can cause stress, anxiety, can break relationships, cause self doubt or fear, financial difficulty and everything that goes along with it.

For those on this journey, I am here, we all are. We understand. Find a support group of others with a similar allergy. Share your fears, share your tips or foods that you have discovered. Get medical help if you feel you have anxiety, depression, PTSD or any other mental health issues that are damaging to you, your family or is putting your health at risk. The treatment may look like medication, or it may not, but don’t be scared to get help.

To others, advocate for change, support your loved ones, try to learn about others allergies, what you can do to make it easier for them. Make a change in your office if a coworker is feeling unsafe due to their food allergies. Don’t wear strong perfumes or scents as it is disrespectful to others around you. Put out a teal pumpkin and have non food treats during Halloween. Don’t be offended if someone asks you to not eat something near them or to wash your hands after you eat, and if you do wash your hands, please wash them properly, not just tinkle them under some water.

All this to say that allergies are so incredibly complex and difficult. Let’s build each other up and create supportive environments for everyone.

If I missed anything or have a story to share, please comment. I would love to hear from you.