For my work, I do a lot of file conversion, including converting Word documents to HTML for web viewing. When the file is converted, it frequently comes through with unwanted code, which I carefully parse out of the HTML file. Making even a small mistake with the code – accidentally deleting an end bracket, for example – can have a huge effect on the text of the document. DNA works much the same way, apparently – one small change can make great changes in how a body functions.

When we saw the specialist in NYC, she recommended testing for a particular rare condition called Posterior Column Ataxia with Retinitis Pigmentosa (PCARP). PCARP can cause sensory neuropathy, sensory ataxia, and RP. It is diagnosed with genetic testing – the disease is caused by mutations on a gene called FLVCR1. One of Gracie’s specialists recently tested her for this condition, and we got the results last week. Grace has a mutation of unknown significance on the shared DNA portions of the gene. Although this particular mutation has never before been reported, it’s more likely than not that her symptoms are caused by this one small error.

With my HTML files, I can just go back into the code and fix my error. The file will go back to the way it was supposed to be. With DNA, we don’t have that ability – yet. There is research underway about how to parse out bad DNA and fix the genetic code. This could offer hope to people like Gracie, who are beautiful and perfect but have coding errors. Hopefully someday, in our lifetimes, this technology will blossom.

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MRSA is No Joke

How ironic that only two posts ago I discussed superbugs and their potential implications for our medically fragile girl. Grace was admitted to the hospital again two days before we left for our vacation. She had cellulitis again, this time in her right middle finger and left knee.

The knee was surprising; she had a small wound on that knee that didn’t look great but it never looked terrible, but the day she was admitted her knee became red and hot. Presumably the infection came from the little wound that wouldn’t heal. That infection could have gotten very bad – her joint could have deteriorated very quickly. Luckily, it got better quickly and has been mostly fine since. We dodged a bullet, as my hubby would say.

Unfortunately, her finger has not healed so well. When we were in the ER, the doc cut into her finger to try to culture some gunk (medical term) but instead only got blood. They cultured that anyway, and we found out she has MRSA – methicillin-resistant staphylococcus aureus. We all carry staph on our skin; it’s a bacteria that usually lives in harmony with our bodies. The everyday variety of staph is MSSA – methicillin-susceptible staphylococcus aureus. MSSA can become resistant (MRSA) when an infection is not fully treated before completion of antibiotics. So, it’s not really that surprising that her staph infection has become resistant – after all, two posts ago I discussed how many short courses of antibiotics she’s had since March. However, this time has been different.

MRSA is no joke. Her finger has been up and down many times since we left the hospital three weeks ago, and we’re still not out of the woods. A week after we left the hospital, the finger was not progressing well and I called her infectious disease doc to set up an appointment. Two days later, the finger was very swollen and bright red with white at the tip – there was no blood supply to the tip due to the tremendous swelling and infection. We started the two-day drive home the next day, and that night she got a fever. She was hot, she was cold, she was shaking – it was reminiscent of the rigors of last October. The next day, I gave her Benadryl in the car so she’d sleep. She slept most of the way home, and was fine when we got back. By the following day, when we had a follow-up with her regular pediatrician, the finger looked fine except for the swelling. Since then, it’s gotten red and then gotten better. The swelling has gone up considerably then come down somewhat. The knee has been red one day and fine the next.

Her little body is waging a war on MRSA, and it’s not yet certain that she’ll win – each day is a new battle. We are going to try the homeopathic remedy of adding tea tree oil to all of her bath and laundry products, and continue to give her strong probiotics and multi-vitamins. If the infection worsens, we will take her back to the hospital. But we will help her in her fight every day; we will help her win this war.

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IMG_2033We just got back from a week-long vacation with my whole family. It was awesome – spending time with my parents and siblings was rejuvenating. While the grown-ups communed, the kids – all the first-cousins on my side of the family – played together. A good time was had by all.

It struck me after the week ended that everyone there accepted Gracie for who she is, and no one excluded her because of her disabilities. There was no fighting for her inclusion. There was no struggle to have her receive some basic service that’s practically guaranteed to a “normal” child. She is just Gracie, and her cousins love her and accept her for who she is. She played with them, they played with her, they all had fun together.

Now that we’re back in the real world, I am faced with finding part-time child care for her, finding a school that will accept and accommodate her, finding a place for her where she will flourish and thrive. But with family, I don’t have to work to have her accepted – they all love her for who she is: the beautiful, smart, sweet, silly, kind, wild child that she is. And she loves them, too.

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I see a lot of articles lately about the dangers of overusing antibiotics – how dangerous superbugs like MRSA are going to kill us all and how parents need to stop giving their children antibiotics for every cold. Those types of articles terrify me. People like my daughter are the ones who will be first to die from aggressive infections.

Gracie is back on antibiotics. Since her March hospitalization, she has had no more than 10 days off antibiotics before starting another course. First she had the cellulitis in her finger, then a bladder infection that wouldn’t quit, now she has impetigo and presumably strep throat too along with an ear infection. She is dependent on antibiotics to survive.

The antibiotic dependence is terrifying because of the possibility of her getting stricken with a superbug. But we are dealing with something much more real and much more terrible. Now, five days into this latest course of treatment, she has a fever. She is getting sicker despite the medicine. I have been told so many times that she needs to be brought in immediately if she gets a fever while on antibiotics, but we can’t go in right now – we’re out of state.

If we were at home I would have taken her to her doctor today, but we’re not. We’re a long way from the team of doctors we’ve assembled so carefully and the hospitals we know so well. We are biding our time – monitoring the fevers and trying to enjoy the visit. If her fever continues to rise we will have to find an emergency room here, but if they stay the same or improve we’ll wait until we’re back in our hometown. Always the difficult decisions – it is so stressful to have to wait a few days while we’re out of town, perhaps letting the infection grow, but it’s also stressful to think of potentially having her admitted to a hospital in another state.

So yes, I am worried about antibiotic resistance and superbugs. It hits too close to home – it is something we deal with daily, weekly, monthly. We are always fighting infection, and hopefully will always win the battle.

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I just read an article in “Good Housekeeping” (yes, I’m like 80) about a woman who lost her eyesight. She doesn’t ever name her eye disease, but she describes its progression, and it’s pretty obvious that she has retinitis pigmentosa, the same eye disease as Gracie. This woman was 19 when she was diagnosed and she was told she’d probably lose her eyesight within ten years – she would have until she was about 30 to see the world, literally.

Gracie was two when she was diagnosed and her disease was as far advanced as the woman in the article was 12 years after her diagnosis. I suspect her vision is worsening; there are times when she looks at me but is looking over my shoulder. She runs into things. She does not see things. Her eye doctor told us that she’d likely lose all her vision by the time she was a teenager, but it seems like it will be sooner than that.

There are so many things I want her to see. I can’t even list them all – colors, oceans, flowers, clouds, the ballet, Disneyland, relatives, me. I don’t want this for her. I would do anything to make her healthy, to restore her vision. And yet, this is what we have. This is who she is.

It doesn’t bother her nearly as much as it bothers me. She adapts, like she always does. She keeps smiling, picks herself up, has no idea she’s looking over my shoulder. She is the same sweet angel of light no matter what she deals with. Maybe someday I will learn resilience from her. If my heart doesn’t break first.

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I love cute shoes. My shoe collection is not nearly as robust as I’d like, but I have several cute pairs of heels and sandals. Little girl shoes are even cuter than grown-up woman shoes. But unfortunately, cute shoes are not really easy to walk in, and for someone whose feet are “invisible” to her brain, they’re not acceptable. She needs sturdy and supportive shoes with a strong heel catch and rolls around the ankles, not sandals or ballet flats or baby girl high heels.

I mourn the lack of cute shoes for Gracie more than I probably should. It makes me so sad to see cute ballerina flats that she’ll never wear, or that first pair of heels that every girl wants. I wish her life were easier. I wish she could just live, without having to spend so much time trying to stay alive. I wish our biggest problem with her was her attitude or getting her ready for kindergarten, instead of keeping her from having wounds and infections (or finding a school that will take her, but that’s a whole different story). I wish she had normal vision so she could see the whole range of cute shoes – and, to be honest, I wish she had normal vision so I would know she’s seen my face. I mourn for the life she should have had.

But, as we all know, you can’t just wallow in despair. Life goes on, and we must continue living even if conditions are not ideal. I swallow down the grief and continue past the cute toddler shoes to the sensible ones. Her safety is more important that aesthetics, and besides, she’s plenty cute no matter what she’s wearing.

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When most people hear for the first time that Gracie can’t feel pain, their initial reaction is a little touch of awe and envy – “Wow, that must be so cool! I would love to not feel pain.” Some even describe it as a super power. I have heard more than once that she’s like a little superhero.

Let me tell you, not feeling pain is NOT a super power. Pain is a very important part of our bodies’ function. Pain is a signal that tells us to stop what we’re doing, or tells us that there is something wrong internally. Pain tells us when a wound is infected. Pain tells us when we’ve broken a bone. Pain tells us when it’s time to go to the bathroom. Pain tells us when we have pushed too hard, or when our shoes are too small, or when we have sand in our eyes. Pain is a gift.

Not feeling pain is definitely not a super power for Gracie, but I do think she has a special power not possessed by most. You see, Gracie has the ability to make everyone love her. She is ebullient, overflowing with charisma. Everyone who meets her is instantly in love with her sweet charming personality. She is so cute and silly and fun – you cannot help but love her.

So, although I do not believe that not feeling pain is a super power, I do believe my Gracie girl is a superhero. She’s Little Love – the superhero that makes everyone fall in love with her. <3

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