Of MRIs and Fractures

Right now, Gracie is under anesthesia having an MRI of her spine. She went to sleep quickly and easily, breathing in the Skittles-scented anesthesia while I told her a story. She made it look easy.

It’s not easy on us. Chad is distraught, worrying about his little girl while he tries to work. Jackson even seems a little worried about the whole thing. I am not too worried, because she’s always done so well before, but there’s always that chance… there’s always the risk that something could go horribly wrong. Best not to think about it, though. Shove it aside and get on with it anyway.

It has been a while since I’ve updated here; sorry about that. Life intervenes. Gracie’s arm is no longer infected and maybe never was. However, she had a finger wound that became so infected she probably should have been hospitalized—I’m sure that if we could have seen under the cast, we would have seen a huge red streak all down her hand. Thank goodness for the cast; we have had enough of hospitals to last quite a while. And thank goodness that she responded to the oral antibiotics, too. If she had not, we wouldn’t have avoided an admission.

Aside from infection issues, we are also now dealing with some of the collateral consequences of Gracie’s fracture. Her bone is healing—the picture below shows the huge bony callous that’s forming around the break. Apparently, it’s quite normal for kids with neurological issues to form bony callouses as they heal. I’ve seen other parents of painless kids post about it, but this is the first time we’ve seen it with Gracie. (Then again, this is the worst fracture she’s ever had, so maybe that’s why we’re just seeing it now for the first time.) The bone cloud will take a very long time to dissolve—months. She will not be out of a cast any time soon.

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This x-ray shows something more than just a callous, though. The picture on the right is from two weeks ago and the one on the left is from two days ago. Although the callous is more fully developed now, the bone is worse. The head of the radius collapsed, essentially breaking again. (Off the top of my head, I can think of several hard falls in the last two weeks that could have caused this.) Even with a cast, she is not protected. She’s a little more protected now, though—her cast goes way past her fingertips so that when she falls the cast will take the hit, not her hand.

It seems like we always have a new thing to worry about—often we have several things to worry about at once. Today, it’s the re-broken arm, the anesthesia, and wondering about what the MRI will show. Tomorrow, it may be something different, some new crisis to occupy our minds. Gracie always seems to get through it, though. It doesn’t faze her. And that’s why she’s Amazing Gracie!

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Lottery

We always knew Gracie was unique, but now that we have a diagnosis for her, we can assign statistics to how rare she is. According to one website, the incidence of PCARP is less than one in a million. A few people have told me it’s like she won the lottery. I disagree; it’s more like she lost.

In some ways, she did win the genetic lottery, but not because of her disease. Only because of circumstance. She was born into a loving, two-parent, white family in America. She will never have to know true hunger, because she’ll always have family and extended family to support her. She is able to go to school, and even receive accommodations for her disabilities, because in this country public schooling is given to all children—not just the wealthy, or just boys, or people who are able-bodied. She will always, always be loved.

These past weeks have seen too much violence in America. Two black men were brutally murdered by those sworn to serve and protect. While the country mourned the loss of these men, a sniper in Dallas shot several police officers, killing five and wounding several others. Important, but painful, discussions about race and poverty and judicial inequality ripple through our conversations like aftershocks. We should be celebrating our country’s birthday, and instead are mourning its inequality.

Philando Castile was a school kitchen manager, beloved by all he came into contact with. Alton Sterling had a smile that could light up the darkest hearts. Delrawn Small was a father of small children. Michael Brown was getting ready to attend college when he was killed. Trayvon Martin was armed with a package of Skittles. Tamir Rice was only 12 years old. There are more, so many more. So many black men (and boys) killed for the crime of being black.

This mother’s heart aches for these men, for their mothers, for their girlfriends and wives and children and communities. I mourn for the mothers who teach their sons how not to get shot by the police. I mourn for the children who watch their fathers bleed out in front of them. I mourn for the girlfriends, the sisters, the brothers, the families, the community.

Like many others, I am struggling to make sense of it all. I am struggling to find something to DO, some way I can help. It’s nice to write Facebook posts tagged with #BlackLivesMatter, but that doesn’t enact meaningful change. The time to remain silent is over, though. It is time for all of us to cry out at the inequality—even those of us who do not directly experience it. Inequality and injustice affect us all.

Black lives matter. Muslim lives matter. Lives of disabled people matter. Hispanics matter, police matter, mothers matter, little boys matter. All lives matter. Let us all lend our voices to the cry echoing across the nation—NO MORE! No more violence, no more inequality, no more holier-than-thou-ness.

Like Gracie, I was born into privilege. There is nothing wrong with that. But there’s nothing wrong with being born into different situations, either. There’s nothing inherently wrong with being black, or Muslim, or poor, or whatever. If we can use these killings to realize that we’re all connected, that we all matter, then they will not have been in vain.

RIP, Philando Castile. RIP, Alton Sterling. RIP, officers of the Dallas police force. May your lives not have been lost in vain.

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Dem Bones

Facebook keeps showing me memories of late June hospital stays from the past few years. It’s funny, Grace does tend to be hospitalized at the same time of year over and over again. Last year, it was her knee. We spent 4th of July in the hospital last year; I watched neighborhood fireworks from the hospital window and ached to be with my son and husband. The year before, the year we went to Tahoe, she had MRSA in a finger. That was a hard infection to treat. A couple years before that, she had exposed bone for one of the first times.

Today is the last day of June, and we are not in the hospital. YET.

Gracie broke her arm a few weeks ago, and it has been in a removable (bivalve) cast. I am scared to remove the cast. Her arm is not terribly stable, and the cast is hard to get off, so it’s a nightmare to wiggle the cast off while trying to hold her arm still and not yank too hard. I’ve only been checking it once a week—each Wednesday.

The first time I checked it, there was a pressure sore over her index finger knuckle. Chad dremeled out the cast, I padded it, and we wrapped the arm back up again. I checked it again last night.

The original pressure sore was not bad, but there were other sores over her other knuckles. Her arm was quite swollen, probably more than it had been the previous week. She had deep red streaks down the swelling, as if the padding at the seams of the cast was pressing too hard on her arm. They were the beginnings of massive pressure sores. I called her ortho doctor, not sure what to do. She suggested that I could bring her in to get a new cast, and they could cut it in a different spot so that I can switch them, thereby reducing the risk of pressure sores. It was actually a great idea. We scheduled an early morning appointment for today.

On our way into the ortho appointment, I saw one of the PAs we’ve seen repeatedly at the hospital, E. He is great. I waved to E as we walked by for our casting appointment with the tech. When I took off her cast for the tech, the knuckle sores were not bad – not red at all, and really quite tiny. Her arm, though, was still red and swollen right above the break. Hot, red, and swollen.

The tech remarked that maybe the cast had made the arm hot. She crafted a new cast for Grace, one that will give her more finger movement and also has more padding. She cut it on opposite sides from the other one, so that the padding will not rub in the same spot when the casts are exchanged. She took the cast and left the room so that she could put felt tape over the cut sides and velcro straps around the middle.

Sometime during the appointment, the gears in my head started turning. Gracie has been off for the past few days, acting like she could have an infection. She keeps wanting me to take her temperature (usually a sign she feels like she has a fever), she’s not eating all that well, she’s lower energy than usual. She has a few cuts here and there across her legs, but nothing that looks terrible. Except the arm.

When the tech returned with the newly bivalved cast, I asked her the question I dreaded: “Could it be infected?” She stopped—”I—I don’t know. Let me get E.” Thankfully, the clinic wasn’t too busy this morning. E was in there within minutes. He felt the arm, felt the heat around the break, saw the redness. He agreed, it looked a little infected. He remembered that we’d spent holidays in the hospital before, and didn’t want that for us this year. He prescribed her an antibiotic. Not the very expensive one that requires pre-approval, but one that has worked for her mild infections in the past. (Notably, it hasn’t worked for the more severe ones…)

She’s had two doses now today. I will have to wake up overnight to give her the third. We will have to wait and watch—I will have to check her arm every day until the infection starts to clear. I am worried, so worried, that the infection is in her bone. If it is, she will undoubtedly have to head to the hospital after the holiday weekend, may need surgery, maybe even worse. This antibiotic may buy us some time, but it won’t cure a bone infection. Not in ten days, at least.

Here we go again.

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Dark and Difficult Times

Before our Monday meeting at work this morning, a coworker and I exchanged pleasantries in the bathroom while we washed our hands. I asked her how her weekend was, and she asked about mine. As I looked up to answer, she remarked, “Oh, you look sad.” We could not elaborate, though, because just then someone else came in.

She was right, of course. How funny that she could see it with one glance. All those tears must have left a mark this weekend.

Our country awoke Sunday to news of a horrific shooting, another devastating act of hatred. Again, this happened. Yet another crazed zealot targeted innocents and destroyed the lives of so many. Again. My heart breaks—the country’s heart breaks. Many of the tears I shed this weekend were for people I don’t even know. The people in the club who died, the people in the club who didn’t die, the families of the killed and wounded, the people who work at or frequent the club, the people of Orlando, the entire LGBT community, our nation. How many times must this happen, how many lives must be torn apart, before we say enough? How many tears must be shed? How many mothers and fathers and siblings and friends and families must go through this? When will it end?

Many of the tears I cried this weekend were for the victims and families. I feel the collective sorrow. It runs through me and within me.

I feel a different sorrow, too. I mourn the third child we will never have.

It’s silly, isn’t it? I already have two beautiful children. They are smart, sweet, silly, and special. They fit just right in my arms—Jackson on the left and Gracie on the right. They fit just right in our house, too—one for each bedroom. But my heart could hold more. My heart could fit another baby, and then some.

We talked about the possibility of having another kid. Because Chad and I both have one defective copy of the FLVCR1 gene, each child we bear has a one-in-four chance of getting both defective copies. If the disorder weren’t so disabling we might take the chance. If it were just RP, for example, we might risk it. Blindness isn’t the worst disability. But with the sensory loss, the balance problems, the not feeling pain, AND the blindness? It’s too much. We can’t do that to another child. It wouldn’t be right.

Responsibility can be a heavy burden. Doing the right thing isn’t always fun or easy. In fact, it’s rarely either. It is heartbreaking for me to give up the thought of one more baby, to let that dream fade in my knowledge that it is the right thing to do. It is even harder for all the gun folks to give up their dreams of—I don’t know, really. I can’t imagine. I can’t imagine what argument can be made to allow gun sales to skyrocket—not even to discuss controlling gun sales—when so many innocents are taken.

But I am reminded of one of my favorite quotes from the Harry Potter books. In his Great Hall speech at the end of Harry’s fourth year, Dumbledore discussed Cedric Diggory’s death with the students. Dumbledore, the wise, the great, the gentle genius, told the crowd, “We are all facing dark and difficult times. Some of you in this hall have already suffered directly [because of gun violence]. Many of your families have been torn asunder. . . . Remember, if the time should come when you have to make a choice between what is right and what is easy, remember what happened to a boy who was good, and kind, and brave, because he strayed across the path of [a crazed murderer with an assault rifle]. Remember.”

We are in dark and difficult times. We must choose what is right. We must stop dreaming, look at the reality all around us, and bear the heavy burden of responsibility. We must do it for the sake of the innocents.

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Confirmation

When Gracie was just 3, we made a trip to New York to see a doctor. This particular doctor was THE doctor to see for kids who don’t feel pain. She specialized in dysautonomia, or dysfunction of the autonomic nerves, which is usually present in kids who don’t feel pain. This doctor did a thorough assessment. She tested Gracie’s histamine response, which is an easy test to administer but not one most doctors do. (Gracie had a “classic” abnormal response.) She watched Gracie try to walk—the appointment was several months before Gracie became independent with walking. She gave us her full attention and gave us a good deal of advice, too.

(I’ll never forget that appointment for several reasons. The doctor’s office had an amazing view of the Empire State Building. We were an hour late to the appointment because the train wasn’t running in Hartford (where we were staying with Chad’s uncle) and we got stuck in traffic. Gracie was very sick; she was spiking fevers every three to four hours with full-body shakes and the whole nine yards. I piggybacked Tylenol and Ibuprofen the whole time we were on the east coast, and gave her Benadryl at night in hopes that she wouldn’t wake up when the fever reducers wore off. She was admitted as soon as we got home. She had a kidney infection, and at one point at the hospital she spiked up to 106. It was unforgettable.)

When the specialist wrote her report, she suggested that perhaps Grace had a rare condition called Posterior Column Ataxia with Retinitis Pigmentosa, or PCARP. She explained that PCARP causes sensory neuropathy, which causes ataxia due to lack of feeling in the extremities, and affected persons also have retinitis pigmentosa. PCARP is caused by mutations in the FLVCR1 gene, which is named for feline leukemia virus (fun fact!).

Later, one of the specialists at the children’s hospital here tested Gracie for PCARP. The test results were inconclusive; they found one mutation but not two. Rare genetic disorders are generally recessive, so if a person has one mutated gene and one regular gene, the regular gene will be dominant and the person will present as normal. Thus, when Gracie’s tests showed only one mutated copy of the FLVCR1 gene, they were inconclusive.

The results of the genetic research study showed that Gracie actually does have two mutated copies of the FLVCR1 gene. The copy she received from Chad has a heterozygous mutation—meaning that Chad has one regular copy of the gene and one mutated copy. The copy she received from me has a different type of mutation—transposition of DNA from a different gene onto the FLVCR1 gene. Because both of Gracie’s copies of the gene are broken, she presents with PCARP.

A quick Google search illustrated the extreme rarity of Grace’s condition. A study from 2011 listed the incidence as less than one in a million, and said that 20 cases have been reported in the last 50 years. Guess Gracie makes 21.

There is one other family on the Facebook group whose child has been diagnosed with PCARP. However, he doesn’t have retinitis pigmentosa, at least not yet. He is still a child. From what Google told me, many people with PCARP present with retinitis pigmentosa first, in childhood, and later develop sensory neuropathy and ataxia. They eventually lose the ability to walk and lose their vision. Gracie is way ahead of the game—her sensory nerve dysfunction and RP were severe at birth.

The good news is, this isn’t a death sentence. Also, having a real diagnosis may help Gracie get services and public assistance as she ages, although not having one has never really hindered her before. The diagnosis won’t change our day-to-day lives very much at all. I don’t even know if Gracie will lose the ability to walk; it sounds like the others start out walking normally and lose the ability as they lose sensation. Gracie never had sensation so she had to learn another way. Her nerves cannot get any worse, so maybe she will remain able to walk in her own way.

We do know that Gracie’s vision will worsen and eventually she will become completely blind. That is not a surprise—we have known that since she first got the diagnosis of RP at age 2. I’m holding out hope that modern medicine will find a way to restore vision to people with damaged retinas, though. It’s all I have; thinking about her becoming blind (blinder?) is too much. We protect ourselves by avoiding reality at times.

It’s good to have a diagnosis, I guess. It doesn’t feel that good, though. I feel tired, drained, stressed, and sad. Adding to the stress, Gracie broke her arm this week. She was just playing in the sprinklers in the thick grass at the park and didn’t even fall hard and she broke both bones. It’s the worst injury she’s ever had, and no one even knows what happened. I do know that I saw her arm bend in the wrong place when she rubbed her face with the injured hand, and she didn’t cry at all—didn’t even notice. Shudder.

At some point, I’m sure I’ll feel glad to have answers. I kind of do now, even, behind all the sadness and stress. It is a good thing to be able to put a name to the disorder—it will definitely help Gracie in the long run. And hopefully, her amazingness will shine through it all.

Of course it will. She is Amazing Gracie.

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Research

Today is an important day. It’s my parents’ 52nd anniversary. It’s also the first day that Gracie’s 1:1 from school watched the kids—she is our nanny for the summer. And, it’s the day I got an email from the genetic research group saying they found mutations they believe are responsible for Gracie’s symptoms:

Dear Susan:

Since we sent Grace’s genetic test result in July, 2015 the genetic researchers here have continued to search for a genetic cause for Grace’s symptoms.

I am writing to you now to let you know that we have identified genetic mutations that we believe are likely to be the cause of Grace’s symptoms.

!!!

They found something?! They found something!! Mutations—plural??

I spent the rest of the day shell-shocked. Not happy, although not unhappy either. Confused, anxious, worried… unsure what this news will bring. Unfortunately, I don’t have the results yet; the research facility will only release them to a doctor. There are results for me and Chad, too, relating to the mutations they found for Gracie. The person at the research company offered to send them to our doctors or Gracie’s doctor or both. I went for both; really, Gracie’s doctor is the only one with a vested interest in the whole thing. Also she’s the one who is most likely to share the results with us, instead of filing them away and forgetting about it. I’m not even sure my doctor would call me to tell me they got the fax/email/whatever.

I feel trepidatious about the whole thing. It likely won’t change much about our day-to-day life, but it may change Grace’s prognosis. It may make our worst-case-scenario a reality. Or, maybe not. Hopefully not. How I hope that it will not.

Regardless of the results, this will probably foreclose any opportunities we may have had to have another baby. I desperately want one more child—one more chance to get baby snuggles, see all the firsts, watch the miracle of life unfold. Gracie wants me to have another baby, too, so she can mother it and dress it up and play with it. If we have a lethal genetic combination, though, how could we gamble with another child’s life? It’s a terrible decision.

After so many years of testing and so many unusual results, I had pretty much given up on ever finding an explanation for Gracie’s symptoms. I had started to believe the ophthalmologist’s  tongue-in-cheek diagnosis of “Grace Disease.” I had decided that Grace was pretty much the only one like her. Now, maybe that’s not the case. Maybe she’s not the only one after all. Maybe she has a mutation that has been found in others.

Getting a diagnosis is a hard experience. It seems like it would be great to know what’s going on, but really it is a chance to reopen wounds that have long-since healed, a chance to revisit all the worries and fears of the early years, a chance to have your worst fears confirmed. It is not a relief; it is a heavy feeling to finally know. Even when the diagnosis is not too bad, even when it is something treatable, it is hard to hear it at first. Those are heavy words.

Eventually, the shock will fade and we will get on with our lives. Even with the worst diagnosis possible, we will carry on. And hopefully, it won’t be that bad. After all, we’ve already been through so much and we’ve always made it through—we will make it through this too.

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Supplies

A few weeks ago, I spent hours on the phone with people at a medical supply company and Gracie’s insurance company trying to get one of her expensive wound care supplies covered. This particular product is pretty cool. It is a felt-like material infused with silver. When it’s dry, it is soft and easily pulled apart like felt. When it’s wet, though, it turns into gel. It is ideal for infected wounds, because it soaks up the goo that seeps from the wounds and simultaneously infuses the wounds with silver, which is anti-microbial.

At first, I tried to order it the way we order all of Grace’s other wound care supplies—by emailing her doctor and telling her what we needed. A few days later, her nurse called me. The medical supply company refused to fill the order, something about not being compatible with Grace’s insurance. The nurse asked if I would call the supply company. So, I did. The medical supply company folks said that they were not allowed to fill the order for this particular product when Anthem is the insurer. That person recommended that I call Anthem and try to get it approved. So, I did. The customer service rep who first answered the phone eventually transferred me to a supervisor. I explained the situation to the supervisor—that the supplier wouldn’t fill the order because of a block in their system with Anthem, and this particular product is unique, and it helps keep Grace out of the hospital when she has severe wounds. The supervisor was very sympathetic; I got the impression that she would have given me the product right there if she could have. She said that she was a mother, too, and even though her three kids were healthy she couldn’t imagine having to deal with all this. (She was one of the people who called me a good mom.) She, unfortunately, did not have the power to resolve the problem, so she transferred me to the appeals and grievances department.

A couple days later, the person from appeals and grievances called me back. She asked some questions about the product, and how often we go through it (our last box lasted three years, so not too often), and said she would approve the product. I told her that the real problem was that the medical supplier wouldn’t place the order, so she called that company.

A few days after that, the nurse from Grace’s doctor’s office called me back. She had just gotten a message that the medical supply company deleted the order since it had been inactive for so long. Again, she asked me to call the medical supplier to try to get it worked out. So, I did.

I was frustrated when I made that call. I asked for a supervisor immediately, but the initial customer service rep wouldn’t transfer me without knowing what the issue was. When I started describing it, she knew exactly which patient I was calling about. She was defensive, as was her supervisor. The supervisor said that because there is a block in their system for all things Anthem, they could not order the product. She said it’s probably because Anthem won’t pay them much for the product, so it’s a contractual issue. I told her that the victim of her company’s rigidity was a five-year-old child. The person who is being harmed by the company’s refusal to fill the order is a sweet girl, a little child who can’t help that she was born with a disability. She didn’t really care… there was nothing she could do to change the system. At that point, I asked to speak to the company director of consumer relations. She transferred me to the corporate office.

The CSR at corporate was nice, at least. She listened to my story and told me she would transfer me to a certain person who was the company’s equivalent of a director of consumer relations. I left a voicemail for that person, short and succinct but again remarking that the person suffering because of the company’s policy was a five-year-old child. She called me back later that day.

The person in the corporate office was kind and understanding. She offered to send me a box of the wound care supplies for free, but I told her that it still didn’t solve the problem—their company’s policy was still in place. She said she had spoken to the appeals and grievances person at Anthem, and that person informed her that if I paid for the supplies out of pocket Anthem would reimburse me. She said that because of the way their warehouses were set up, they couldn’t ship certain supplies to certain locations. They were not legally allowed to send this particular supply to patients in Colorado because of industry regulations. That made no sense to me, since she was willing to send me a box for free. But whatever.

I go back and forth on whether I should have allowed her to send me the free box of supplies. On the one hand, the company probably has a budget for that sort of thing. On the other, it is the insurer’s responsibility to fulfill my daughter’s medical needs. Ultimately, I set up an online account and purchased the supplies, paying out-of-pocket with only a momentary worry about whether we had enough room on our credit card.

I still haven’t sent in the invoice for reimbursement. That involves yet another phone call to Anthem, and waiting for a response, and hoping it’s an appropriate response. I already feel defeated by the whole experience. I’m glad this is a once-every-three-years purchase; I’m not sure I could handle dealing with this more often.

So what’s the punchline, you ask? Well, the product finally came. I opened the box, took out one of the sheets of dressing, and opened it. It’s the wrong thing—I needed the sheets without thread, and these are the sheets with thread. ARGH!!! I probably can’t send the box back since I opened it. I definitely can’t afford another box of expensive wound dressings. And I’m so, so sick of dealing with these people.

I may call the nice person in the corporate office. I will almost certainly send in the invoice to Anthem. And I will be VERY glad that we only have to deal with this every few years.

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