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/

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.

The terrors of being a NICU parent

Every new parent’s nightmare is that something is wrong with their child. Of course for most people this fear never comes to pass and you get to take home a health little baby.

As most of you know, our daughter V has quite a bit going on medically, mostly due to a genetic condition she was born with called Incontinentia Pigmenti.

The month of October is Incontinentia Pigmenti awareness month and I would really like to share our story, however, I have to start at the beginning, which means sharing about being NICU parents.

After 10 days of prelabour, 12 hours of active labour, issues with monitors picking up heartbeats and the use of a vacuum to assist in delivery, our beautiful baby girl was born; this was last October and everything about her was perfect. The only thing that the pediatrician was slightly concerned with was she had some blisters on her left forearm, she thought they were suckling blisters from in utero and just asked to keep an eye on them.

We waited the 48 hours for discharge as I had group B strep and they wanted to monitor her. Everything looked perfect. Blood work was normal, she was healthy, was latching and eating well, good diaper output, hearing was great, everything was fine. We were getting ready to go on the morning of day 2 after her birth when I noticed her blisters on her left forearm had spread to her left inner thigh. I mentioned this to the nurse who was prepping her first bath. The nurse didn’t seem concerned, just went to tell the doctor.

Suddenly the pediatrician is there saying she wanted to bring our daughter into the NICU for some quick checks to make sure it wasn’t serious.

I remember walking with them into the NICU thinking “this can’t be real, my baby girl is healthy, nothing is wrong.” They immediately started an IV and had her under big lights. There were monitoring cords everywhere and all I could think was “she looks so tiny, don’t let anything happen to my baby!”

They explained that they were concerned that she may have Herpes Simplex Virus (HSV), and that they were going to need to do a Lumbar Puncture (LP) as well as gather skin samples to send off for testing. They politely asked us to leave while they performed the procedure. My husband and I had to walk out of the NICU utterly terrified and praying for a miracle, trusting the doctors and nurses to take care of our newborn baby.

That was likely the most scared I have been in my entire life. Pacing in our hospital room, waiting. My parents arrived, thinking they were going to help us pack up and go home and the moment I saw my mom I just started bawling. How do you explain when you don’t even know what is going on, when you don’t even know if your baby is okay?

After over an hour we finally got back into the NICU. Not only did they fail to get the LP, they tried twice and failed both times. As you can imagine it is hard to hit the right spot on such a tiny little spine. We were transferred to an isolation room as HSV is contagious and obviously don’t want any other babies catching it as it can be life-threatening in newborns as it can cause encephalitis.

That room is where we stayed for the next 8 days. It had no windows. It had a pull out couch bed thing not really fit for one person, let alone two. We were told only I could sleep there, but after the first night a nice nurse said we both could stay if we wanted (ummm, YES). There were cords all connected to our little girl monitoring her HR, oxygen saturation, respiratory rate, and blood pressure at all times. I was able to disconnect the cords to breastfeed or hold her, thank goodness, but she also had an IV running at all times. She got 4 different medications throughout the day and night through her IV: antibiotics and antiretrovirals. She got assessed every 4 hours by the nurses, which included a temperature check which she HATED. She had many blood draws done for blood tests, I honestly lost count of how many times she got poked.

It was impossible to clothe her as it pulled on her IV (which we tried to avoid as they kept pulling out). You had to bring the IV pole everywhere and man did that get irritating, which is small in the grand scheme of things, but it was so frustrating.

The worst part was that we didn’t know anything and her blisters kept getting worse. They were spreading over her entire body and the medical team didn’t have any answers. She had 3 LPs in total, 4 different IVs, dozens of blood draws. We saw 6 different pediatricians, 1 neonatologist, a dozen nurses, and 3 midwives (checking up on me).

Unfortunately James had to work because he had projects that were overdue. He stayed as much as possible and tried to be as present as possible. His co-workers were amazing and even sent him back to the hospital told him who cares about the clients. Spend time with your family.

My husband, hard at work but also present to be a support 😍

The first night that we stayed in the NICU, where we were told only 1 guest per patient, I felt so completely alone and terrified. I just kept staring at my little girl in her crib, with monitors beeping and just bawled. I just wanted to hold her and make everything better. I wanted James to be there because all I needed was a hug and to be told that everything was going to be alright.

We kept asking about timeline, when will we get answers, and at first it was soon, then in a couple days, and then we were told 2 weeks, which changed back to a couple days, and so on and so forth. We were beyond frustrated. We wanted answers. What was going on with our daughter and how could we help her?

One thing I have respect for now, as a Licensed Practical Nurse myself, is how long a day takes as a patient. When you live in a moderate size city and are conferring with specialists hours away, replies take forever and you are just sitting there waiting for answers.

Once we were thinking it may no longer be HSV due to negative tests, then it was looking at what it could be. After hearing back from Infectious Diseases they said, “Definitely HSV, follow this treatment plan.” The same day dermatology responded with, “Likely not HSV, perhaps Incontinentia Pigmenti, especially if family history indicative.”

So of course I was grilled about any maternal medical conditions: alopecia, odd shaped teeth, dark swirly skin, pale skin patches, miscarriages of primarily male children. Nothing made sense. What did this have to do with anything? No. We didn’t have any of those conditions.

The next day we hear from Infectious Diseases again, “Stop antiretroviral treatment immediately. Definitely not HSV as per dermatologist. Follow up with dermatology.” Wait, WHAT! So because of one email from dermatology you are changing your stance from 100% one thing to 100% something else. Our child’s life is in your hands! Stopping treatment early could cause irreversible/life threatening damages if wrong.

We couldn’t take that chance, that they may be wrong. So we decided to wait for the second batch of special testing to come back from the lab 4 hours away. Confirmed a second time, not HSV. So what did this mean now?

This meant a whole new bout of specialists. We got an echocardiogram done, saw a pediatric ophthalmologist and got an in depth eye examination, got referrals to see the dermatologist, geneticist and genetic counselor. Finally we were sent home to wait and hope that we would get answers soon.

Our journey in the NICU was terrifying for me as a parent. It’s the last place you ever want to be with your newborn baby. I struggled with inadequacy; did I do something wrong, why is God letting this happen to us? I couldn’t do anything for her to make her better and she just kept getting worse. We had no idea if she was in pain. We just knew we loved her and would do anything for her.

I know that we were so blessed to have a baby that was quite stable while in the NICU. I can’t imagine the terror of watching major interventions be performed on your little one.

All this to say, everyone’s experience in the NICU is so incredibly difficult and challenging. For those that have children at home, to be torn between who you stay and take care of must be extremely difficult! For those who’s significant others can’t stay with you and be your support, or those that don’t have visitors who can come and lift you up, it can be so draining and lonely!

I want to give a shout out to all the doctors who did their best for our daughter, for the nurses who went above and beyond, breaking a few rules for us to make our stay as comfortable as possible, thank you from the bottom of my heart. We were in the NICU over Halloween and we got given a little handmade Superman cape, which of course we declared was a Supergirl cape. We have 2 special homemade quilts from the NICU as well that holds a special place in our hearts.

Our little V was our Super Girl. She was so strong, definitely stronger than me. She didn’t have any issues with IVs or blood draws. She rarely cried and honestly was way too content considering we were closeted in about 100 sq feet of space for over a week. She was an absolute trooper and I feel so incredibly blessed to call her my daughter.

To all those NICU parents, I know how difficult your journey is. It is terrifying. Even now, thinking back I start to bawl and feel almost panicked. You are so incredibly strong. It is not easy, but know you are not alone. ❤️

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.

To my husband

I feel so incredibly blessed to have my husband as my helper and support through this crazy walk called life.

He supported me through nursing school, and while I was working shift work. He never complained with all the crazy stories I brought home from work working as a nurse (sorry, I know some of them aren’t meant for the dinner table, whoops).

Yes, we have had our ups and downs, but I recently I have tried to really look at everything he does for our family, and the sacrifices he has made for us.

He may not know a tonne about medical things or understand everything our daughter V is going through health wise, but he has done so much to learn and support us in this crazy journey.

When V was born we were stuck in a windowless isolation room in the NICU for 7 days. Instead of going home, he slept on those pull out couch loungers in the hospital with me, forsaking good sleep to be at our side. He couldn’t truly take time off work, so he was on the phone and answering emails, doing his very best to be present at all times so he could help.

He has never shied away from messes she makes or smelly diapers she fills.

He has tried to understand the medical jargon, and though he doesn’t have the time to do the research like I have had, he listens and learns as much as he can so he can help.

He has been a shoulder to cry on and a smile to laugh with.

I love watching the love and awe in his eyes when he sees our daughter.

Is he a baby sitter? No. And he would be incredibly offended if I referred to him that way. He is V’s dad. Just like I watch and parent her during the day, he often watches and parents for her when I need something done.

When I feel done and drained, he asks what he can do, and does it. It may not always be the way I do things but it helps, and I don’t think I tell him that enough.

This isn’t to say he is perfect. Nobody is. And of course I have had moments when I feel frustrated, I feel alone. I’m doing all this work for V, making sacrifices dietary wise and sometimes it feels like, sanity wise. I often get blinders. I don’t see the work he is doing, the countless overtime hours so that he is caught up and due to this can’t spend time with us at home as a family.

I was feeling burnt out and that V wasn’t seeing him enough, and so he now comes home for supper and then goes back to work as needed, sometimes until early morning. Some days he is as drained as me, but he will get up if V wakes up crying if I am too tired to.

It’s when I have felt most alone, without his support, that I have realized that he is there as much as he can be. He is struggling through this journey called parenting right along with me, our journey filled with specialist appointments and allergies.

Everyone always says that you will fall more in love with your husband when you watch him with your child. I didn’t understand until this past year.

My heart feels close to bursting at times.

All of this to say, take the time to really look at your significant other. Step into their shoes. Try to understand from their perspective. If you are frustrated or feel alone, try to look at all the things they do for you or your family.

Don’t tally your frustrations and their failings, look at where they have stepped up, the moments where your heart is full, the little things they do.

By looking at the positive moments more, everything feels a little clearer, things don’t seem so difficult, and I personally feel more at peace.

So tell them how you feel, thank them for their support. Thank them for being your partner, your teammate, the person struggling through life with you together, holding you up when needed.

I’m not saying it shouldn’t be expected that dad’s do these things, but I truly love having a partner who does these things because he wants to be a part of our parenting journey. Someone to shoulder the burden. Someone who steps up when needed, loves our family and truly would do anything for us.

So thank you to dad’s out there, but a special thank you to my hubby, for everything you do. I love you and feel blessed to call you mine.