[Guest post] Let it fall – a Rare Disease Day Post

Rare Disease Day 2012You know how, in the movies, they sometimes show a relationship that takes place across the miles, across the universes, across times or even just across the internet?  You know the sort: ‘Sleepless in Seattle’, ‘The Lake House’, ‘Frequency’ or the like.  Two people who’ve never met but mean something to one another regardless?

… before I go any further I should reassure both Luke and Carole (our spouses … and, for the record as you never know, Luke is Mercedes and Carole’s mine! ) that the relationship that Mercedes and I share is not a romance but more like a bromance where one of the bros is more feminine than the other (you can work out who that is, I hope!).  Ours – Mercedes and me – is not so much the love that dare not share it’s name as one that shouts it from the rooftops, gladly: friends!

So, as I said up there, I’ve never met Mercedes Yardley, only spoken to her via the internet.  However as Stephen Hawking hasn’t actually ‘spoken’ in many decades but still I am – among so many – inspired by his ‘voice’ I think that it is fair to say that Mercedes and I can be friends virtually.  Not only can I say it but it is true too!

There is also the matter that should … or when … we actually meet the Universe will end from a simple case of awesome exposure overdose!  So either the Mayans were right and they’re counting down to Mercedes meeting me or we’re doing you all a favour by staying at opposite sides of the World!

Anyway, Mercedes is a strong person, honestly one of the bravest and most special people I know.  She’s been through a lot but does it with a strength that I envy – and always with a killer smile to boot.

These are her words:

Let It Fall

Williams Syndrome logoWilliams Syndrome is a rare genetic condition that occurs in about 1/10,000 births. It occurs randomly across both genders and all ethnicity. It has a myriad of medical and developmental problems, including hypercalcemia, aortic stenosis, pulmonary stenosis, low birth weight and weight gain, characteristic facial appearances, hyperacusis, musculoskeletal problem, hernias, kidney problems, dental abnormalities, irritability, a starburst or lace pattern on the eyes, problems with sleeping, blood vessel problems, excessively social personality, unusual skill in music and language, developmental delay, learning disabilities and attention deficit.
Although symptoms may be treated, there is no cure.

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Suddenly it seems like life is divided into two time periods: before and after Niko’s diagnosis. There are the dreams that we had before and the now the reality that has drastically deviated from its planned course.
We don’t tell people about Niko’s diagnosis for a very long time. It isn’t because we don’t trust them or their love. It isn’t because some are worthy to know and others aren’t. It isn’t dependent on the level of friendship and whether or not we think they could be a support to us. Nothing is that well thought out.

Luke and I tell our parents because we are all extremely close. There isn’t any way to describe how that feels. Do this: pick up your phone. Pretend that the people who love you the most are on the other end. Say, “Mom, Dad…something is wrong with my child.” Even though this is only an exercise and perhaps not anything that is true, don’t you still get that rush of panic? Did you feel your stomach fall? Now imagine that it is real, and you get this feeling every time that you think about this new diagnosis, which is about every two seconds.

His parents tell us that faith will get us through. My parents tell us that the diagnosis doesn’t change Niko. He’s exactly the same little boy that he was before he was diagnosed. Both parents tell us how much they love us. They both remind us how much they love our son.

We tell a few of our closest friends. These are the people who sweat with us while we wait for the FISH test results to determine if Niko does, in fact, have Williams Syndrome. They are the ones who love Niko for Niko and cry as hard as we did when the results come back. They search the libraries and Internet, giving us print-outs and whatever snatches of Williams information that they can find.

“I think I knew a girl in high school who had Williams Syndrome,” my friend Marilyn says one day. “She was pretty nice. She had somebody help her with daily living, you know, but she was high functioning.” So there’s hope, is what her tone tells me. I’m very grateful for it.

The hospitalizations and struggles are borne in relative secrecy. Luke is still working hard at his MBA program and I hardly see him. Sometimes I call him and say that Niko is back in the hospital with some new thing. Hypercalcemia or RSV or more tests. Sometimes I ask him to bring me a change of clothes, but eventually I learn to keep a week’s worth in the trunk of the car. Luke swings by when he can, but time is very scarce. His job is getting his degree and getting employed somewhere with great medical insurance. My job is Niko. I set up the doctor’s appointments. I spend hours on the phone trying to find special low-calcium formulas that won’t make him vomit or seize. I stop seeing many of my casual friends. Some ask me why. Most don’t.

Word gradually leaks out. One day a rather cold woman in our church runs up and throws her arms around me. The hug is awkward and bony. I hug this normally distant woman back and raise my eyebrows at Marilyn. Marilyn shrugs.

“I just heard about Nikolai,” the woman says. She is struggling not to cry and my heart melts. “I am so sorry. So, so sorry.”

I have never told her, but this difficult, uncomfortable hug is one of the most cherished moments in my life. I will remember it forever.

Soon everybody knows. The reactions vary dramatically. Some people act like nothing has changed and it’s life as usual. Others act like the world has caved in on us. Still others act like Niko is already dead.

We mourn it like death, in a way. While I am still fortunate enough to hold my warm, snuggly child, I am forced to let go of my dreams for him. Luke speaks Russian and lived in the Baltics for a few years. We had planned to get his degree and move to Russia. But Niko exhibits the severe heart problems common with Williams Syndrome and moving out of the country is now out of the question.

I’m 24 years old and realize that I might have a child living with us forever. I see my future and it isn’t a glamorous career like I had always envisioned; it is full of hospitals rooms and signing papers of consent .

Many of my hopes for Niko do die, and it would be dishonest to deny it. Visions of his junior prom and wedding are replaced by very real concerns about whether or not he’ll ever be able to use a knife by himself. But he is still my child. He is still my son. The very heavy future doesn’t mean that I don’t still enjoy his giggles and his wide, inquiring eyes. It doesn’t make him anything less to me. Unfortunately the world doesn’t look at him in the same way.

But perhaps the most common reaction is the most heartbreaking one. “Why didn’t you tell me?” I look into many, many sets of teary eyes. These are people who are hurt that I didn’t share my news with them. People I see in the grocery store. People that I knew long ago.

This is why: every time that I mention it, my world moves under me again. Every time I say, “Hey, you know, this is the struggle that we’re going through,” it becomes something more, something unbearable.

“So what are you going to do about school? How can you afford the treatments? Will he ever learn to read? Will he ever get married?” they ask.

“I don’t know. I don’t know. I don’t know,” I answer. I don’t know what information to give. Do I describe how horrifying things really are for us? Do I say, “I can’t sleep. I forget to eat. Sometimes we deal with it very well because he’s our son and we love him, but sometimes I’m on my hands and knees vomiting because the reality just hit.” Nobody wants to hear that much information. But if I say, “Oh, things are all right. I broke a Cheerio into four pieces and he ate one without throwing up,” then they assume that everything is fine. It isn’t fine. On our very best days when things are working absolutely perfectly, they still aren’t fine. We struggle with the simplest of things. Sleep. Meals. Niko doesn’t sleep through the night until he’s sixteen months old. I become so exhausted that I begin to hallucinate. I fantasize about jumping off our balcony and into the traffic below just because I want to rest so badly. This isn’t fine.

After the initial “Oh no!” reaction dies down, many of our friends begin to wander away. Some are very concerned for quite a while. They bring us meals. They call and leave messages on the phone. They take special care to invite us out. But I don’t have time to wash and return their dishes right away. I’m in the hospital and don’t receive their messages until the events have already passed. I fall into bed at night, catch 30 or maybe 40 minutes of sleep, and then haul myself out of bed to the sound of Niko’s screams. I am not a good friend. I can’t reciprocate at this time. I’m exhausted and terrified and I miss my husband, who is still inching towards his degree. I’m no longer the life of the party. I’m not even fun. I find that I can do nothing except wrap myself around my family and let everything else fall.

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Mercedes M. YardleyMercedes M. Yardley

Mercedes M. Yardley wears red lipstick and poisonous flowers in her hair. She write whimsical horror, nonfiction, and is the nonfiction editor for Shock Totem: Curious Tales of the Macabre and Twisted.

To find out more about her please visit:  http://abrokenlaptop.com/

 

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If you are affected by a rare disease, or you know someone who is, please feel free to contact me if you would like to share your experience on here as that would be more than welcome!

http://www.rarediseaseday.org/

@rarediseaseday #raredisease

 

6 thoughts on “[Guest post] Let it fall – a Rare Disease Day Post

  1. Pingback: Let It Fall: A Guest Post About Coping With A Diagnosis « A Broken Laptop

  2. Pingback: Go read this… | Lee Thompson

  3. I wish love and peace for you and your family, in the here and now and all the small moments in between. Amazing courage, amazing love, amazing heart…(Hugs)Indigo

  4. Greetings! I’ve been reading your site for a long time now and finally got the bravery to go ahead and give you a shout out from Porter Texas! Just wanted to say keep up the fantastic work!

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