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Loving A Child With A Rare Disease.

Updated: Mar 1, 2019



Today, February 28th is Rare Disease Day. By definition in order for a disease or disorder to be considered rare, it has to affect no more than 1 out of every 2,000 people.


rare:

adjective

uncommon; few; unusually excellent; or unusually great.


My daughter is all of those formentioned things....rare in all the best ways possible.

Her genetic condition [STXBP1] is also rare...sometimes in all the worst ways possible.


My daughter underwent genetic testing to try to find a cause for her epilepsy. She was diagnosed in 2016, after a year and half of praying all of her symptoms were symptoms she would someday outgrow. We were informed there were less than 300 diagnosed cases world wide, and Hailey Grace was now one of them.



The hardship of any disease or condition being rare, is that rare means that it isn't common. And if a disease or condition isn't common, you can almost guarantee research to guide doctors and specialists isn't there. The information they have access too, in order to help our child is almost non-exsistant. Which in turn means that you're basically on you're own. So put on your boxing gloves and get ready for a good fight, because it will be a battle every day for advocacy for your child. While you're at it, feel free to add 'expert rare disease researcher' to the list of hats you're already wearing as a parent because you're going to know a lot more than most of the doctors you head into an appointment with.


I don't know what it's like to have a rare condition, because my daughter cannot tell me. She is non-verbal, but what I can tell you is what it's been like for our family to love someone who is rare.


For our family, hands down our biggest struggle has been the isolation we have encountered along the way. If you talk to a group of special needs parents, or people with a rare disease you will find how prevalent the feeling of isolation can be for many of us. This expands onto so many different levels- medically, emotionally, physically, and socially just to highlight a few.


Medically- Even doctors and experts know very little to anything about my daughter's condition. Thus making nearly any form of treatment, medication, approval for insurance coverage, or medical planning....a shot in the dark. A method of 'trail and error' if you will. Part of my child's rare condition [STXBP1] is that the part of her brain responsible for allowing her to communicate through speech, is majorly impaired. Along with physical impairments that don't allow her to control her body the way she'd like too. I often try to place myself in my daughters shoes and imagine having pain, feeling ill, or having a medical emergency and not being able to communicate orally or physically to those around you what you are feeling? Personally, it sounds like a nightmare. And yet, this is the reality of my child and many others just like her. Her body control and function has been impaired, leaving her desperately trying her best to learn other ways of communicating with those around her.

Physically- There is no blending into the crowd, not ever. You draw attention wherever you go. Maybe it's the wheelchair that draws the initial attention, special braces on their feet to help them walk, physical features that others notice when your child walks into the room, whatever it may be physically...some things draw peoples attention almost instantly. While these are great moments for the community you are in to gain awareness, present opportunities to show inclusion for those with disabilities, and grow in compassion and kindness to those around them who are different than themselves....the reality is this won't always be the case. There will always be those people who stare, anywhere you go. Some out of normal human curiosity, and those who gawk and stare in pity without any reservation of the fact that they are now aware that you have noticed their starting. Still their stares persist. There's nothing like trying to accept your new "normal" to have uncomfortable stares in social gatherings remind you that no matter how thick your skin has grown on this journey...some will never see your child as anything more than the kid with the disability.


Emotionally- Special needs parents are brave, strong, and courageous all for their childs sake. Somewhere in the journey of our up's and down's, fighting insurance claims, making appeals, researching medications, or new forms of therapy it can become easier to keep up that facade at all times, than to truly reveal to the world the weight of how challenging our role as a caregiver can be. We wear masks of perfect strength in order to avoid revealing the real and raw emotions we harbor that are so deep and hauntingly heavy. We can all recount times we have tried to let someone in on our heartache, to immediately regret sharing that vulnerable part of ourselves due to the response we received in return. We assume because we've experienced one hurtful encounter, that all vulnerable encounters presented will lead to pain. So we adopt a "why try" attitude to protect and guard our hearts, while simalteanously falling deeper into the isolation we're wanting to avoid all together. Truth be told, we can't process the trails, if we don't allow ourselves to acknowledge the weight of what exactly it is that we're carrying. If you show up with a honda civic to tow a trailer of heavy boulders, you're going to be stuck where you're at. If you know and acknowledge how heavy the load you're carrying is, you can plan accordingly without disappointment. These heavy emotions need to be spoken and heard, in order for the loneliness not to swallow up our joy or well being.


Socially- Sometimes the social isolation can become much larger than the diagnosis. For all family members. When you have a medically rare or fragile child or sister, you get use to plans never being set in stone. If you're lucky, you will have a tribe of family members, friends, and a community who understand this reality of your life. They will support you, love you unconditionally, and show up for you in the middle of the hardest days. While others will simply move on from their relationship with you because you're no longer socially reliable. It can be hard for your child to make friendships in social gatherings with the lack of communication being non-verbal, as many children who are able to use words will quickly lose any interest in engaging with your child at all. There may even be times in your marriages where you may feel isolated from one another as one of you carries the role of care giver, while the other carries the role of provider. Both equally as important, both sacrificing for your family in one way or another. The caregiver may envy the chance to get out of the house and go to work, while the other may wish for a chance to stay home to spend time caring for and making memories with your child. Your typically developing children, may being to feel isolated from their parents as a majority of your time will be spent caring for your child with a rare condition. They may have a hard time understanding why you can't spend as much time with them, as you do their sibling who's physical needs are more demanding than their own. Those same children may begin to experience sibling isolation as they age and try to explain to their friends and peers why their sibling might walk the way they do, make the noises he or she does, among many other questions their friends may natural begin to wonder about.


I want to share: I am not an expert of all special needs children. Nor, am I an expert on rare disease. While many parents and families can relate and resonate with our journey as a special needs parent, our experiences, and the emotions that have accompanied them... there are also many who cannot. And that is ok because the truth is, I am only an expert in caring for my own child. The only experience I know inside and out, front to back, is my own.


Even among children with that same rare disease as my daughter Hailey [STXBP1] the symptoms, abilities, personalities, circumstances, and needs can be as different as night and day in a group of around 300. Our experiences can be drastically different from one family to the next. Here are just a few examples:


  • While some children and adults with STXBP1 have seizure's, a small percentage do not.

  • Some among this rare group can walk, run, and jump, and some are unable to do any of those things.

  • Some have a limited vocabulary, while others have never spoken a word in their lives and most likely will remain non-verbal.

  • Some sleep amazingly, while some ensure their parents pantry stays stocked up on the good stuff [strong coffee] at all times.

  • Some have great muscle tone, while others have too much or too little hindering their mobility.

  • Some of our kids are gentle, tender, and quiet in nature- while others are always on the go exploring, refusing to tone their infectious laughter, noises, or genuine zest and excitement for life.

  • Some of our kids take many different medications that help to improve their condition, while others have little success on medications, and some may need none all together.

  • Some have other medical concerns that impact their quality of life, while some do not.

  • Some of the families have one child with STX, while some have two. Some families have typically developing children, along with a child with global delays. Some families have multiple children, while some only have one.

  • Some families have the help of other family members near by, some have nursing assistance, and some do it all on their own.

  • Some parents get anxiety when leaving the house, while others thrive on new experiences.

  • Some of our parents are two parent homes, while some are single parent homes.

  • Some of the parents in our group lovingly call their child "special needs", while others prefer the term "disabled", and some refuse to let the world define their child by any label at all.

ALL are right!

ALL preferences are ok!

ALL of these families have felt the enormous gut punch of rare disease, and also rejoiced in the victories their child has experienced in spite of the challenges.

ALL of our children are superhero's at the end of the day.

ALL rare disease parents I know, are absolute rockstars', because despite all of our differences, preferences, circumstances, or ways in which this rare condition has impacted our children's lives, inadvertently impacting our lives as well, we all CHOOSE to get up every day and advocate and fight for our babies in a world that most have never even heard of STXBP1.


Nothing makes you more of an expert of a rare disease, than the hands on experiences of being a parent and 24/7 caregiver of a child with one.


Another way my daughter is rare is she exudes pure joy. She is the happiest human I have ever met. She lights up a room wherever she goes. She isn't afraid to interact with any other soul on this Earth, because all she knows is love. She may have physical barriers from this condition, but this condition has also given her freedom in knowing no barrier when it comes to loving others and loving life. She isn't entertained by toys, television, or things. She yearns and longs for the attention and affection of people. To enjoy some of her favorite things with other people like an infectious session of laughter together, a piece of chocolate, dance parties to music with a catchy beat [Thomas Rhett and Justin Timberlake are currently her jam], or the experience of things she can't seem to wrap her brain around, but is mesmerized and marveled by how much fun a large body of water is to play in! She seeks simple pleasures that teach us to appreciate the simple and intangible things in life.


A diagnosis will in certain ways bond some of us to other parents or children of a rare disease, but none of our kids are exactly the same. None of our families are exactly the same either, because none of the members inside these precious families are clones of one another. We're all unique. We're all different. We're all created rare by our maker.


Sometimes the biggest barrier we create between parents [special needs or not], is expecting others to fit into the same exact mold we were made from. To be, feel, or believe in all the same exact methods of parenting, therapies, treatments, terminologies, preference to labels, and attitudes that we may have or possess about any given topic. Parents are strongest and most united, when we support and encourage one another regardless of our differences and preferences.

So while I cannot speak for all parents of children with rare disease's, I will say that I know in our own experience there have been many days that have been challenging in the past 4 years since my daughter entered this world. I also think it would be accurate to acknowledge there very likely will be many more ahead. Days that are challenging to our hearts to keep our faith in God's goodness, in humanity, and in medical advancements. There will be many days filled with heart break and sorrow. But I want you to know, there have also been many days that have been filled with unspeakable joy. Sheer happiness and appreciation for the gift of life that I know in my bones, we wouldn't have had it not been for the way our daughter has reshaped our hearts and lives forever more.


Whenever I use writing as a way of sharing our journey and hopefully encouraging others on similar paths, I think of what I needed to have spoken into my heart and life in the time I needed to hear it the most: then I try to share exactly that message here on Stripped Down To Real.


So on Rare Disease Day, I want you to hear me say 3 things and I hope you will take them to heart:


1.) You are doing AMAZING! First and foremost, no parent is perfect. So don't put that unrealistic expectation on yourself. If we were all being completely honest as parents, we'd admit that no matter how many books we read, how many times we pull up google to find answers we think we should already know, staying up late researching, and reaching out to other parents to gain insight or knowledge...we're all just trying our best, to do our best. I didn't know what I was doing as a parent before I had a special needs child, I really don't know most days what I'm doing as a parent of a child with a rare genetic condition. That's alright, because like the rest of us...you'll figure it out as you go. You're going to win some parenting battles, and you're going to lose some. In the face of loss remember, you are a human who is fighting like hell for your child's sake and benefit, and for no other reason than how brave that is, you are killing it as a parent! Don't forget that in your darkest hours of parenting.


2.) It's ok to not always be ok! It's OK to admit that. It doesn't discredit this journey's joy's. It doesn't make you a complainer or an ungrateful parent. It doesn't make you a negative nelly. It quite honestly just makes you human. A healthy human process' disappointment and hardships. An unhealthy human shoves it down so deep, that you never know when that bomb will go off and explode. Nor the damage it will have on those around the explosion. So allow yourself to grieve the losses as they come, just don't set up camp there and never leave. When you process the hard emotions we don't like to acknowledge or visit with, it makes it so much easier to appreciate and celebrate the joy we'll also expierence.


3.) You are not alone! That is a lie. A lie that is raging so strongly around you as a parent on your hard days, but even more so as a special needs parent. The harsh reality that a lot of us don't like to admit or talk about, is that we from time to time can feel isolated. We can feel disconnected and misunderstood even among our families, friends, even the parents whose children share the same diagnosis as our own because our situations are not all identical. Also because people are not imperfect, and won't always know how to comfort you or support you through something they can't begin to understand. Please know, that you are never truly alone. People might not understand everything you're experiencing, honestly...there's a chance aside from God who sees it all and knows it all...that no one beside Him, will fully ever understand the depths of your child's life or yours. I do believe though there ARE people who can and will love you right where you are at. Who will empathize with your heart, despite not understanding. People who will lift you up, show up for your family, encourage you, and love you WELL in the middle of your "rare". And that my friend, will make all the difference. That will be more than "good enough". It will be life changing. So keep putting yourself out there until you find your tribe, and then be real, and let them love you through this journey.



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