Ichthyosis

Ichthyosis Awareness Month: Why We Chose Genetic Testing

A reality of life with ichthyosis is that we are almost constantly having to explain it to someone. We have come up with our canned responses, kid-friendly explanations, and quick answers to avoid conversations with well-meaning strangers. We have learned how to field inappropriate questions and uncomfortable conversations. We also have learned how to read when people want to ask a question, but don’t quite know how to go about it. I knew that when I got pregnant people were going to have questions. Ichthyosis is a genetic skin condition and Harlequin Ichthyosis is double recessive condition, which is why it’s so rare. Casey and I each have a different mutation on the same gene. This means that there is a 25% chance that any child we have will have the same skin condition as Olivia and a 50% chance that any child we have will be a carrier of one of the two mutations. These numbers are always swirling when we talk about future children, whether between the two of us or when others ask.

I knew that an invasive (although generally well meaning) question that would come up would be whether this baby has Harlequin Ichthyosis. At the end of the day, it doesn’t change anything for us. As Catholics, we are open to life. This doesn’t mean that weighing decisions about whether to have more kids or not comes lightly, it just means that we are committed to bringing those kids into this world if a pregnancy does occur. So, I want to share a little about WHY we chose to get an amniocentesis and find out if this baby has the same skin condition as Olivia.

When I was pregnant with Oscar and we were discussing what genetic testing we would opt-in for, we weren’t really sure what to do. We weren’t ever going to end a pregnancy, so did it really matter? Our midwife said something that has stuck with me ever since: “You could get the genetic testing done just so that people have time to get over it.” What she meant by that is that if we have that knowledge than we can choose how to educate ourselves and how to educate family and friends on how to support us. Now that we’ve been surprised at a birth with very little answers, I can’t agree more with what that midwife said. I knew that if we could find out if this baby had the same condition as Olivia that there is a lot that we could do to prepare our families, our home; and maybe most importantly, the hospital staff, doctors, and nurses in Labor and Delivery and in the NICU. We know what adhesives work and which ones don’t work at securing PICC lines, IVs, and an intubation tube. We know that Aquaphor was really hard to get at first when Olivia was transferred to UCSF because the NICU didn’t regularly store big tubs of it. As parents, we could come in with a lot of first hand experience. We wouldn’t have to hear, “we are figuring this out along with you.” We could make much better informed decisions. I knew that I wanted to know as early as possible if this baby had the same condition as Olivia, not because it would change anything about how I felt about the baby or my excitement for adding a little sibling to this family, but because it would provide the best outcomes for the baby.

This is part of life with a rare genetic disorder in the family: you learn how to let go of plans. You learn how unpredictable and precious life is. You learn how little control any of us really have in life. You learn that there is a thin veil between life and death. You start to get really comfortable in that in between space. And most of all, you get a perspective on how petty and ego-centric so much of the world is. You learn that so little matters when you’ve come face-to-face with a life slipping – or almost slipping – before your eyes. It’s hard to keep that perspective sometimes. It’s easy to fall back into the way of society and the rat race for comfortable living. It’s easy to rationalize that I can plan everything out and it will all go as planned. But it doesn’t take much to pull me back out of it all. It’s often as simple as a too hot car interior or planning a weekend based on access to a bathtub. Or going in for an amniocentesis in the middle of global pandemic. We can plan as best as possible, but we always have to be ready to pivot.

The day we received the results from the amniocentesis we were more jittery to find out the sex of the baby. The focus on whether the baby had Harlequin Ichthyosis or not had dissipated and shifted to if it was a boy or a girl. When the genetic counselor called me she shared that this baby does not have Harlequin Ichthyosis and I cut her off and quickly asked, “Is it a boy or a girl?” She laughed and told me that somehow that page of the paperwork didn’t scan correctly so they had to re-run the test. I ended up finding out that this baby was a girl through an ultrasound, like most people, and not a sophisticated genetic test. What what is that I said? We can plan as best as possible, but we always have to be ready to pivot.

Catholic, Mindful Wanderings

Holy Saturday in Pandemic Lent

Every Lent ends the same way. The altar is stripped. The tabernacle is empty and left open. Jesus is not physically in our churches. It’s always jarring and humbling. This year though, having a picture of it sent through email by a priest made it that much more shocking. I shuttered when I opened this picture of St Patrick Catholic Church in Nashville. This particular parish has been a breath of fresh air many Sundays while we have lived here. It has always been a reverent experience. That’s what makes this scene feel so meaningful. For some, this pandemic has made it easier to focus on Lent, but not for me. I’ve been distracted and things have been disordered and mis-prioritized without the order of the liturgy. I cherish the rhythm of the liturgical year and this year I’m reminded deeply why that is. Tomorrow, we will claim His resurrection. But not tonight. Not yet. Tonight we find stillness in the humility of His death. We are shuttered and shocked to see the altar stripped bare and the tabernacle empty and open. Thank God for tomorrow.

Mindful Wanderings

Know what you know well

What’s one topic or theme you feel like you know really well, but maybe know about this topic so well that you could easily talk about it for 10 to 15 minutes with evidence to back it up. When I say evidence I mean, you can pull some solid facts and background information about it. This isn’t just an opinion about something, but a topic you can actually answer the *whys* and *hows* behind. Okay, do you have a topic (or a few in mind)? The topic doesn’t have to be anything you have formal education around, but maybe it’s something you like to read about or something you have done in the past. It’s probably something you are passionate about – something you find exciting to talk about.

What if these were the only topics we were allowed to comment or engage in on social media? Other people could ask questions and read the discourse, but only people with immediate experience or substantial knowledge could participate. My hunch is that we would probably learn a lot more and maybe get a little less mad at strangers on the Internet. Obviously, we can’t impose these types of things on others, but we can challenge ourselves. We can rise to the challenge and seek to learn and understand and assume that maybe we don’t know everything about every topic. And that’s okay because there’s probably something we have to offer to someone else. We can refrain from uncharitable comments and snarky remarks. We can certainly vow to not purposefully stoke a fire just for enjoyment. The Internet and comment sections and social media have made us all believe that we can be experts in just about anything. And the Internet certainly provides some great resources. But it’s a false confidence. And a false confidence leads to an un-empathetic ear.

For those that have taken the time and energy to invest in a study or a pastime probably has an emotional investment in that thing. We should of course listen and engage with empathy and humility, right? So let’s try to model this by remembering we don’t get to claim space wherever we want. Our age, our race, our educational background, our experiences have shaped us to be experts in certain things, which means we can’t be experts in it all. Let us seek out the experts, even if our assumed opinions tell us we surely disagree, and try to take a back sit and listen with grace. That is my challenge to myself and to you. Actually, I triple dog dare you.

Mindful Wanderings

And I don’t pretend to know what you know…

A fact to agree on before moving forward: there is an influx of people from Central America seeking entry into the United States. It has become a hot button topic and one that is seeped in emotional response, which doesn’t always translate to logical and reasonable discourse. It’s a topic that I have to be careful how I tread because I recognize how close I am to the whole thing. See, my family came to this country as asylum seekers. It is largely because of this familial history that I felt compelled to dedicate the privilege of a college education to US-Central American relations and the role of the public sector in society. And there is a large part of this “issue” that doesn’t seem to be understood: it’s a bipartisan mess. Although I am pretty center in my politics, I tend to lean more left than right. And I am here to tell you that neither Democrats nor Republicans have gotten the Central American question right. The United States has exploited Central American countries for economic gain and intervened in Central American politics way back when the countries were tied under a single federation. In fact, this was happening before those countries were even separated from Spain. And this meddling has always been bi-partisan. The United States has gone to great lengths to ensure that our neighbors to the south are positioned to perpetuate American exceptionalism – interference disguised as rescuing and helping (i.e. spreading democracy and sending aid) with the goal of controlling and having power over these countries. 

I don’t claim to know your position or your reasoning on immigration, border security, economic policy, trade, or capitalism. What I do know, is what I know from familial history. What I do know is what I know from visiting, working, and studying in Central America. What I do know is that the United States has done a lot to influence Central America for US economic gain and it has left most of Central America dependent and vulnerable.  To me, this isn’t just about a human emotional response or a wall or the “right” way to immigrate. This is a call to my fellow citizens of the United States to recognize the complexity of our politics, our economic policies, and our foreign aid practices. This is a call to recognize how our consuming of drugs, clothes, and food has corrupted communities and destroyed ecosystems. We need to recognize that it’s not just the role that our country has played in the current state of countries in Central America, but it’s our individual actions that have played a part, too. And it’s our individual actions that can rectify these sins. Vote. Donate. Sign petitions. Call your representatives. Volunteer. Do all of the things. But remember, this is more than immigration. This is demanding humane and fair international relations, trade policies, business practices, environmental protections, and foreign aid practices. 

Mindful Wanderings

Embracing Weakness to find Healing

#Ichthyosisawareness month is almost over and I didn’t do all the posts that I had plan. But I think this is where I want to end my thoughts for this month regarding a genetic skin condition that blindsided us and hurled our whole family far away from where we thought we should be.

I’m starting to learn that I was letting the fear from other families with ichthyosis cloud my own intuition and judgement. I feel like I’m finally coming out of the fog and realizing that Olivia is not nearly as fragile as I was made to believe. Even though our dermatology team told me from early on that she would be able to do pretty much anything a typical kid could, I had a hard time wrapping my head around it. But it’s true. It’s just on her own timeline. Even though we make take a few extra precautions, it does not have to be as scary and extreme as I was made to believe. But of course, I can say this now. And as in now, I mean this week. Or even today.

You know that feeling when you are recovering from an illness and that taste of feeling refreshed makes you realize how awful you felt before? I can relate to this most when a hangover finally wears off 😬 or when I was in denial I had mastitis and I finally took the antibiotics and felt like a human again. Well, for me this goes for my mental health, too. More and more research and studies are coming out linking Post Traumatic Stress Disorder (PTSD) to parents that have experienced a health crisis with a child. And that was the validity I needed that this life with ichthyosis isn’t just “hard.” There has been severe trauma that we are forced to look at face to face and catches us by surprise. An example of this is watching a sci-fi show in which there is a scene where a baby is born with a severe visual defect and is killed immediately upon birth. It took our breath away and caused a river of tears. We paused the show momentarily, only to return to finish it and go on with life. At least we have one another, yes, but it’s hard to help people heal when you still have a lot of healing work that you need to do.

Just this week I’m realizing how depressed I was and what a dark place I was in the last few months. It’s easier for me to run full speed ahead when I can’t figure out what to “fix.” This time around, every little task made me feel like this hole I was in was magically getting deeper and hopelessness was starting to creep in. For anyone who has experienced depression like this, you might be like me and can rationalize the heck out of it, but drive yourself crazy that you still don’t feel right. I don’t know what snapped me out of it this time. I know it wasn’t just one thing. Being on vacation for a week with the family and seeing my mom, sister, and aunts definitely helped. I also have been running again, I was able to receive funding for respite care, and I set up spiritual direction with a priest I really look up to. But reading Shannon Evan’s book Embracing Weakness: The Unlikely Secret to Changing the World gave me the little push that I needed to see a way out. I highly recommend spending the $11 to read it! Since coming back from vacation, I don’t feel like I’m under an avalanche of housework and medical appointments even though none of that has decreased. It just feels manageable.

And that’s how I know I wasn’t okay. Now I see that I was trying to shove my weaknesses and my hurt and my trauma under the rug. I hoped that if I just kept doing everything I needed to do, this would eventually pass. What I really needed was to validate that this hard stuff that I felt was leading me to be a person I never wanted to be, could be places of growth that would help me be more empathetic, more patient, and more loving towards others. Because surely I’m not the only one who feels this way and maybe by sharing this, someone else can start to see that they aren’t the only one who feels this way either. And just like I take extra precautions to protect Olivia and keep her safe, I can take some extra precautions with myself, too. And in the end, my mental health isn’t just about me feeling better. It’s about me being in a better and stronger position to shower my husband and kids and friends and family with the love and support they need right where they are.

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Ichthyosis Awareness: Compromising for What Works

It’s Ichthyosis Awareness month so I’m dedicating my posts this month to advocating for those with ichthyosis and sharing a little bit of our story.

Today, I’m talking about skin care. All of the well meaning people in this world like to suggest what we could use on Olivia’s skin and try to hide their horror when they hear that we REGULARLY use bleach and petroleum based products. Here’s the deal: I am a pretty crunchy mama so when I heard these things I searched desperately for “natural” alternatives. Surely other products can work just as well. Surely people are just blindly listening to medical professionals without doing much personal research. Surely there are other options. Trial after trial, especially when Olivia’s skin would get really dry or really tight or really flaky, I would find myself back ro using Aquaphor instead of, or in addition to, Shea butter or organic cold pressed coconut, safflower, and avocado oils.

The reality is that Aquaphor, a product I only knew to use to heal tattoos, is one of the only things that helps alleviate itching. And the fact that it helps with itchiness AND it can help fight bacteria and create a barrier against infection is why I still use it. Even though it leaves grease stains on my clothes, destroys elastic (which is why I use disposable diapers more often that cloth diapers, a very different routine for me when compared to diapering with Oscar), and leaves gunk in my washer (among other minor annoyances), but the bottom line is this: it brings comfort to Olivia. It just works in a way that other emollients don’t work. At the end of the day, any mother is going to do what is best for their kiddo. Bottom line. Full stop. End of story.

So, yes, we put in a cap full of bleach in a bathtub full of water every now and again to kill off any lingering germs after visiting somewhere that was full of people, animals, or just wasn’t very clean. And yes, I use petroleum based products, and disposable diapers, and a cream that I have to wear gloves when I apply it to Olivia’s skin because this routine is what works for her skin right now. It might not work later. And it might not work for someone else’s skin who is affected with ichthyosis. This ability to adapt and respond to needs and to find compromises is what we, as parents, do day in and day out – parents with kids with different needs just find themselves going a little further, but you would do it, too, if you were in our shoes. Bottom line. Full stop. End of story.

I don’t want to end this post without sharing appreciation for Bieresdorf, the parent company of Aquaphor products, because thanks to them folks affected by ichthyosis can receive a FREE case of product once a quarter after sending a letter from a dermatologist. That’s a huge savings for our family. Any company willing to donate product directly to those that NEED it, instead of gauging our pockets deserves recognition.

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May is Ichthyosis Awareness Month!

This month I will be sharing a few posts related to ichthyosis with the hope to advocate for acceptance and understanding of people with visible differences, support FIRST Foundation and the possibility of improved treatments and cures, and to spread awareness about this rare genetic skin condition.

Ichthyosis. How do you spell that? How do you say that? I say ICK-THEE-OH-SIS. I’ve heard it say other ways, too. For the sake of simplicity I often tell people that Olivia has a genetic skin condition that makes her skin grow really fast and she can’t slough it on her own like we can. It works for kids and adults alike so I stick with it. But it’s not the whole story and it is an oversimplification of the disorder.

There are about 20 different types of ichthyosis and although there are similarities across the conditions, there are a lot of differences, too. Some are linked to the x-chromosome, some, like Olivia’s type, are double recessive, and still some others are dominant. Never did I realize that those Putnam squares and pea varieties that I learned about in Biology would come in handy! Ichthyosis is so rare that there is still a lot we just don’t know. For example, Olivia has Harlequin Ichthyosis – a phenotype that presents with thick white diamond shaped scales at birth. Olivia received two different gene variations. One from me. One from Casey. And since we aren’t related the mutations were different. One of the variations had been previously recorded in someone with Harlequin ichthyosis… and the other had not. Why is this important? Since the mutations are different and we don’t know enough about this particular part of DNA, we don’t know how else these variations might affect Olivia. Additionally, the two mutations that Olivia has are also different than the two genetic mutations or variations that someone else with Harlequin Ichthyosis might have. So even though someone else might have Harlequin Ichthyosis, that person and Olivia might have different challenges. I found myself saying, “genetics are weird.” on a regular basis.

What is common among the ichthyosis population, however, is that the largest organ – skin – is compromised. Your skin is the first defense for your immune system. Your skin, and it’s ability to sweat, helps you control your body temperature so you don’t overheat. Your skin retains moisture, which helps keep your whole body hydrated. When your skin is compromised, as in the case of folks with ichthyosis, you are more susceptible to infections, overheating (which can also happen if you get too cold as your body goes into overdrive trying to warm you up), and dehydration.

That’s just the tip of the iceberg of the world with ichthyosis and for most people it’s more than enough information to grasp all they need to know. But there is more because with any congenital condition, there is almost always more. What is important to know about ichthyosis is that it is NOT contagious. And although your skin provides very important functions for your body, people with ichthyosis (and their loved ones) don’t have to live constrained by fear. We are cautious, yes. Of course. But, it is my goal to equip Olivia with the tools necessary so that she feels confident enough to pursue her interests and passions. This may mean that we get creative, that we stay flexible, and we adapt – but is that any different than any other family?

During the month of May, please follow along as I share about #ichthyosisawareness and consider donating to FIRST Foundation to support their work “to improve lives and seek cures for those affected by ichthyosis and related skin types.”