Burned

We parents of special needs kids are frequently plagued by burnout. I just read a post on “Love That Max” today about a special needs mom’s head exploding. It was tongue-in-cheek, but quite appropriate. My head feels explosive today—or maybe it feels like it’s already exploded, like there’s nothing left.

Gracie and I came home yesterday afternoon. I am glad to be home, but so apprehensive about how the hospital stay ended.

Yesterday morning, the pediatric infectious disease doctor visited us, informing us that Gracie’s CRP and sed rate were normal so she could not have had an infection. I told him that she has had terrible infections before with normal blood work, but he said, and I quote, “inflammation is different from infection.” This ID doc is relatively new to the hospital, so he was not there in August 2014 when Gracie had a bad infection that streaked halfway up her arm—her blood work was normal then, too. It perplexed her then-ID doc, but the doc didn’t stop treating her. (THANKS for that, Dr. D. Miss you so much.)

Meanwhile, the nurse and the floor’s charge nurse were trying unsuccessfully to start a new IV. They tried three times before the ID doc came in; he told them to stop because Grace could just have oral meds. Oral meds = no need for us to stay at the hospital.

Right after the ID specialist left, the floor doc came in. Again, the floor doc is someone who has never worked with us before—he has seen us there, but never been the doctor assigned to our case. He was very careful not to use the word “infection” in his short conversation with me. He talked about switching Grace to oral antibiotics and getting her discharged “because he could not justify the hospital stay.” I tried to reason with him and watched him bristle at being questioned. Yet another doctor let ego get in the way of patient care yesterday.

Chad happened to be at the hospital through all this, although I don’t think he was aware of the significance. I cried on his shoulder, and decided that I wanted to try to talk to the doctor one more time. We need this hospital. And it makes sense that a doctor who has seen lots of kids with infections in his career would not automatically believe me that Grace is different—Grace doesn’t follow the rules. But I don’t know what I can show them to prove that I’m telling the truth, I’m not just a hysterical overprotective drama mama, if they won’t even believe their own records from a previous hospitalization.

I did speak to the nurse later. The floor doc was literally in the office right next to where we spoke; I know he heard every word. I tried to make the point that Grace is different, that she’s had terrible infections with normal blood work, and she looked in her computer and verified what I was saying. Even so, after that conversation she treated me differently. She was cold, not as nice, obviously careful and guarded. Guess it makes sense… she has to do what her boss, the doctor, wants her to do, regardless of what I say.

I am so tired of this. I am so tired of having these conversations. I’m so tired of worrying about whether Gracie’s care will be affected—if the doctors will not take her infections seriously now unless she is extremely sick, if the doctors will automatically disregard what I say because I’m “that” mom.

Gracie could have probably benefited from one more day of IV antibiotics, but I didn’t fight for it. Luckily, her hand looks a little better today—the swelling is down, the redness is down, the wounds are healing. It worked out okay this time, even though I didn’t fight.

I don’t want to fight. I don’t want to be labeled as confrontational. I don’t want any of this—I just want my kid to get better. I don’t want to have to choose words that will soothe a doctor’s giant ego just so he will listen to me. I don’t want to have my child suffer because a doctor is going by what he’s seen his entire career—even though he’s never seen Gracie before and has never seen anyone with her disease, either.

I am so tired of all of this.

This is basically the same reason we stopped seeking treatment at Children’s Hospital. I lost the fight that time—the infectious disease specialist didn’t like it when I questioned her treatment plan, and she wrote nasty things about me in Gracie’s chart. Nasty untrue things. Nasty untrue things that will be in Gracie’s chart forever, that will affect Gracie’s treatment at that hospital for the rest of her life. I can’t let that happen again. That’s why I tried to talk to the nurse yesterday, tried to explain my viewpoint. It didn’t work, though—she was decidedly cold to me for the rest of the day.

I am tired. I don’t want to fight. All I want is for my child to get the best possible care. Is that too much to ask?

Apparently it is.

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3 a.m.

Baby, it’s 3 a.m. and I must be lonely…

Whew, what a night! Not in the fun “let’s hook up after a night of drinking” way referenced in the song, either.

Gracie was admitted again yesterday. We tried to avoid the hospital but sometimes things are simply unavoidable.

We’ve been working toward getting Gracie out of the cast. At last Monday’s ortho appointment, Dr. B. decided to use a shorter cast in order to give Gracie the opportunity to use her fingers and start to regain some hand strength. (The casts have been going past Gracie’s fingers since she re-broke her arm in mid-July.) It sounded like such a great idea, such a great way to start transitioning to no cast at all.

You know what they say about the best laid plans…

We ended up back at ortho Tuesday (the next day) because her pinky finger became red and swollen. The PA and I debated back and forth about the cause of the redness and swelling, but ultimately decided that we could try a new cast to see if it was circulatory. Within minutes of cutting off the original cast, her finger looked less red and swollen, so it seemed that was probably the answer. The redness and swelling never went away, though, and throughout the week Gracie developed various bloody sores on the back of her hand.

The coup de grace was on Saturday. We were at Jackson’s first-ever soccer game and Gracie was behaving terribly. She spent at least 45 minutes in a forced time-out in my arms. She wouldn’t stop kicking and screaming and hitting and fussing, so I wouldn’t let her go. At one point she narrowly missed throwing her head into the brick wall behind us. At another point Chad chastised her for rubbing her hand against the bricks (anyone who feels pain knows that’s not a good idea). She was wild and reckless.

Eventually, she calmed down enough to get out of the time-out. We watched Jackson play for a while (he did so well!), then went to the playground. She was having so much fun and finally behaving reasonably. And then, I saw her hand.

The cast hand already had bandaged wounds on the index and pinky fingers. Both of those bandages were bloody and muddy—never a good sign. As soon as we got home I washed them out, soaking her cast in the process. The wound on her pinky was frighteningly deep; it would need daily soaks. I decided to call ortho and spoke to the on-call provider, a PA we’ve seen many times before. He offered to meet us at the clinic (keep in mind it was Saturday afternoon and the clinic was closed) in order to cut her cast back and evaluate the wounds. He didn’t think they looked infected but prescribed her oral antibiotics anyway, just in case.

I managed to get two doses of Keflex in her before I looked at her fingers Sunday morning. The index finger was bright red and swollen, with what looked like streaking under the cast. Crap—time to go to the hospital!

The ER wasn’t that busy, and the doc came to see her right away, confirming immediately that she would need to be admitted. We got up to the room around 3 pm and had a fairly uneventful evening. Gracie had a hard time falling asleep, but she finally passed out around 9. I watched some Netflix and went to sleep around 10:30.

Gracie’s antibiotics were due at 11, and I was drifting into sleep when the nurse came in for that. I sleepily heard her walking around the room, and suddenly felt her hand on my arm. She needed to scan my wrist band because she couldn’t find Gracie’s. I listened as she bustled around the room, laying sleepily in my vinyl bed. The IV infused over an hour, and I heard her come back to stop the infusion, grateful for the opportunity to finally get some deeper sleep. Alas, that was short-lived.

Gracie woke up around 12:30 a.m., moaning and mumbling and generally having trouble getting back to sleep. I snuggled her for a while, but she wouldn’t settle down. I changed her diaper, hoping that would help her calm down, but it didn’t. She got up and went to the bathroom later, but that was not enough to settle her down. We snuggled some more but neither of us could drift off to sleep at that point. She whined and fussed, asking for her iPad, wanting to get up and play, but I wouldn’t let her—it was 2 a.m. and there was no way I was going to let her get up for the day. She was a full-on insomniac last night, and I was helpless to lull her to sleep. The Matchbox 20 song embedded above ran through my head—it was 3 a.m., after all.

Finally, I tried to calm her by telling her a story. I quietly told her a story about a little girl named Gracie who found a giant pillow and fell asleep on it, then started dreaming about floating on a cloud, then dreamed about being a mermaid in the ocean. She was breathing more calmly and finally seeming to settle down—and then the nurse came in. Crap! All that hard work trying to get Gracie calm was for nothing.

It took a good long time for her to get to sleep after that. I have no idea what time it was, because the clock in the hospital room is broken and I didn’t want to look at my phone, but it felt like it could have been almost an hour. The nurse came in again and again after that one time, each time leaving the door open for light to drift in—but also allowing all the loud hallway sounds in too. I silently cursed her each time, praying desperately that she would not wake Gracie.

The nurse came in again at 6:30 a.m. for Gracie’s next dose of antibiotics. This time, she woke both of us. I didn’t even bother trying to make Grace fall asleep again; it was hard enough in the middle of the night and was guaranteed to be impossible when her body clock knew it was time to get up for school.

Today is a waste of a day. Gracie is stubborn and clumsy from sleep deprivation. She refuses to listen to me and also is slipping everywhere when she walks. No amount of bribery can make her lay down with her iPad; she wants to be wild. I am wretched from the lack of sleep; my eyes feel scratchy and near tears, and my brain isn’t processing well. It’s hard to care about keeping Grace down when I can barely manage to get through each moment.

Hopefully we will have a different nurse tonight, one who cares more about being quiet and helping her patients sleep, one who does not feel the need to check on us every other hour. Hopefully I can get Grace to take a nap today so that she will recover somewhat from the sleep deprivation. Hopefully I will not be asked to make any decisions today; that seems beyond me right now. And of course, hopefully this hospital stay will be a short one. That is always the hope.

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Birthday Girl

Gracie turned 6 a few days ago. We celebrated at home with her favorite dinner—steak, cheesy fiesta potatoes (my homemade version of her favorite Taco Bell delicacy), and strawberries—and enjoyed watching Gracie’s glee as she opened her presents. She didn’t get the one thing she wanted most (a Fin Fun Mermaid Tail—totally inappropriate for a kid who can’t walk well, doesn’t know how to swim, and doesn’t have a pool), but she settled for the other toys that are now strewn about our living room.

Grace’s birthday was a little more relaxed this year than it has been in the past. She didn’t spend as much time in the hospital last year, didn’t have as many scary life-threatening infections, didn’t cause us quite as much stress and heartache. Her past birthdays have felt like a limp to the finish line—exhausted and broken, we have dragged ourselves through the year, collapsing as we made our goal. Reaching birthdays has seemed a nearly unattainable feat when we go through so much just to make it through the present moment.

Gracie has been hospitalized on or around her birthday several times. In fact, both of her fingertip amputations happened after late-August hospital stays. She lost the tip of her right index finger when she was just two; she was actually in the hospital on her birthday that year. She lost the tip of her left index finger when she was four. She managed to stay out of the hospital long enough to have her first-ever birthday party but was admitted days later with a nasty infection that streaked halfway up her forearm. And yes, she was four before she got a real birthday party—that’s what happens when you spend half your life in the hospital or at doctors’ offices.

But this year is different. She has no major wounds right now (knock on wood!), and even the huge pressure sore under her cast is healing nicely. She is looking forward to her birthday party, which will be in a few weeks at our house. She requested a mermaid swimming party, but Mean Mommy nixed that—she has a cast on her arm, so a swimming party is a recipe for disaster. Gracie settled for a makeover party instead. She invited all the little girls in her class plus some close friends. The first of her classmates RSVPed tonight, and hopefully several more will be able to join us for makeovers and hairdos. Little girls will run around our yard with full face makeup, chattering and climbing on the playset and generally having a great time.

These little slices of normalcy are something I cannot ever take for granted. Gracie is anything but normal—I mean, she’s amazing, but she also lives a life that most people would never imagine. To her, going to the doctor is normal. Having x-rays is normal. Getting IVs is normal—as is heckling the nurses if they don’t “get the blood” on the first try (or second, or third…). Spending large chunks of time on wound care every night is normal. Falling a lot is normal. Having the mother of all helicopter moms is normal (hey, it’s not easy to keep her safe!). But just running around the yard with other kids? That’s not normal for her at all. In fact, that’s not even something she can really do—she can’t keep up with the others. And having a swimming party? Totally not normal for her—usually she has so many wounds in various stages of healing that I worry about exposing her to the germs in public pools and won’t let her swim. We cannot risk a serious infection; she gets enough of those without the extra exposure to public germs.

Each birthday is a gift, for all of us. Most of us take that gift for granted—we have no reason to suspect we may not make it another year. But for someone like Gracie whose life is so far from normal, the gift becomes more real. There have been so many close calls, so many bad infections that could have ended her life. I will never forget her first pneumonia as an 8-month-old baby, when her arms and legs turned purple because her blood oxygen level was so low. I will never forget the first time she spiked a high fever, when her whole body shook and Chad and I panicked about whether to call an ambulance or load her into the car for an ER trip. I will never forget the knee infection of last summer that did not respond to IV antibiotics for three days, spreading in the hospital until almost her whole leg was infected. I will never forget so many scary moments, so many times her life was not to be taken for granted. And I will never, ever forget that she is a gift—a beautiful, sweet, charming, loving gift of Grace. Her birthday is a gift to all of us.

Happy Birthday, Amazing Gracie.❤

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Bridges

Sometimes, you have to stick up for your kid, even if it means burning bridges. We have had a few bridge fires throughout this special needs journey. The first one was probably with the infectious disease department at Children’s Hospital; I thought they were not taking Gracie seriously, they thought I was hysterical, it didn’t end well. Thankfully, we live in a city with two hospitals for children, so we had other options for Gracie’s care.

Next, there was the whole unpleasantness with Anchor Center. I will probably never forgive Anchor for the way it treated us. It’s too bad, too; before things went south, I had dreams of working there or even being the executive director someday. Now, I can’t even see their logo without feeling angry and hurt.

Today, the bridge with Gracie’s current GI specialist burned to a fiery crisp. Or at least, I assume it did. I would know for sure if the doctor had gotten back to me.

Gracie was supposed to have her endoscopy under anesthesia last week to determine whether the lesions on her small intestine had healed from three months of a gluten-free diet. The doctor wanted it scheduled at 2 p.m. because it was easier for him, completely disregarding my protests that it would be harder for Grace that way. I wrote a post about it. After writing that post, and after talking to a good friend who’s been on this path longer than us, I decided to bring my concerns to the doctor’s attention. I emailed his nurse the Thursday after our appointment, five days before her scheduled scope Tuesday afternoon. Despite having been quite responsive when I sent Gracie’s diagnostic information, I never heard back from the nurse about my question—no confirmation email, no note to say she would ask the doctor, nothing. Red flag!

Flames sparked under the bridge.

My email apprised the doctor of my concerns—I’ve never believed she has celiac disease, but think instead that she had an intestinal infection last August and September, and if it was an infection, it seems that the lesions could have healed on their own in 11 months. I should have also said that even if she does have celiac, three months is probably not enough time to heal her intestine, since she is known to heal very slowly. I did say, though, that since the doctor did not scope her immediately prior to beginning the GF diet, there was no way to know if the diet had helped her or if she had healed on her own, and that I did not want to subject her to anesthesia unnecessarily. I tried to be very politically neutral, knowing that the doctor’s ego could be inflamed by my questioning of his practices. Alas, the silence on his end has spoken volumes.

After sending that email, I thought more about how horrible it would be for my child to spend the entire day NPO (nothing per oral, a/k/a no food) before the procedure, and how she would not be able to control her behavior or her hunger. On Monday, 48 business hours after sending my email but approximately 24 hours before the scheduled procedure, I called the doctor’s office to reschedule, telling the receptionist, “I don’t care how long we have to wait, I just want the procedure to be first thing in the morning.” Turns out they had an opening the following week. Another red flag! While still on the phone, I told the receptionist that I had emailed my concerns to the doctor but he had not responded. She assured me that she saw the email on the top of his desk, and he would respond the following Monday when he returned to the office. I warned her that I would be forced to cancel the procedure again if he did not.

The flames under the bridge were starting to grow at this point.

I waited all day yesterday for a call or email from the doctor, but none came. That printed email on his desk is probably buried under a stack of files by now. He may have read it, or maybe not, but because he did not respond right away, I’m sure he never will.

In the meantime, Gracie has been—well, off, for lack of a better word. Her behavior is not as exemplary as usual, she’s not eating as well as usual, she threw up Sunday night (perhaps precipitated by my insistence that she eat her corn), she’s not sleeping as well as usual, she’s just not quite right. She doesn’t have a fever or any noticeable infections, but she has a giant pressure sore under her cast, so my mom-alarm is going off. I emailed her pediatrician for advice, and she said that I should get Gracie into ortho before next week (her follow-up was scheduled for Monday morning). Today, I called ortho and spoke to one of the PAs who knows Gracie well. I expressed my concerns, noting that it could just be paranoia, but the PA said that if I was worried we should check it out. Thank goodness for doctors who understand! No red flags there—what color do they use for all clear, or grateful? Green flags, maybe? Green flag! The PA set us up to go in tomorrow morning, right at the same time Grace was supposed to be going under anesthesia for her scope. I was not too sorry about the timing.

I called GI again to cancel the scope. The exasperated-sounding receptionist asked me why I was cancelling. I told her it was because Grace had another urgent medical matter, and also because the doctor had not addressed my concerns. She said she would write that it was for other medical issues. No one wants to hear from the concerned parent at that office, apparently! Because the receptionist did not convey my full message, I decided to email the doctor’s nurse again. I forwarded my previous email with a note that I had to cancel the scope because of other urgent medical issues, and I would wait to reschedule until the doctor addressed my concerns. Do you think she responded? Nope, crickets. Total black hole. Total red flag.

The flames have nearly engulfed the bridge now.

We have been through enough for me to know that the relationship with this doctor is irreparably broken now. He will not call, and his nurse will not email. Thank goodness it’s not a specialty we really need, like infectious disease. No, GI has done nothing for us at this point except make our lives harder. Certainly they have not helped.

The only problem is, we still don’t know for sure whether Grace has celiac disease. I don’t think she does, but I can’t be sure. Because of that, she has to remain gluten free. We can’t take the chance—being on a GF diet won’t hurt her if she does not have celiac, but it will hurt her to take her off the diet if she does. There’s no choice. We will do the GF thing for a while, possibly months or years, since we have no doctor to guide us now.

Sometimes, Mama’s got to burn the bridge. Sometimes, you have to tell doctors that you don’t agree with them. Sometimes, doctors are okay with that, and other times they don’t want to see you again. It’s the price we have to pay. Ain’t no one gonna hurt my girl, though! No one’s going to subject her to an unnecessary medical procedure. She goes through enough out of necessity. This Mama Bear—or pyromaniac, I guess, to keep with the burning thing—will fight to the end to keep her girl safe. I love that kid. She’s my baby and I won’t allow someone else to hurt her. Not even a doctor.

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Adaptability

One of Gracie’s greatest qualities is her ability to adapt. She never lets circumstance get her down. She just finds a new way. I remember when she was a baby, when we were first learning that she didn’t feel pain and trying to keep her from biting her fingers, we put elbow splints on her so that she couldn’t get her hands into her mouth. At that time, she still used a pacifier, but she couldn’t get her hands up to her mouth to put the paci in when she wanted it. No problem for Gracie, though. She would take her straight arms and put the pacifier right in front of her, then move her arms to the side and bend over so she could pick up the paci in her mouth. Triumph!

That story reminds me of another story I heard years ago. A man wanted to know  what heaven and hell were like, so God first took him to hell so he could see the place. There was a huge table stretching all down the room with every kind of good thing to eat. Everyone was sitting at the table crying, though, because the only spoons available were longer than their arms and they couldn’t get a bite in their mouths. Then God took the dude to heaven where he saw the same table filled with every kind of delicious food. But in heaven, the people were feeding each other. Gracie is always in heaven, even if there’s no one else there. She finds happiness—and creates it—everywhere she goes.

Gracie got another cast today. This one makes it even harder for her to use her thumb, and all the rest of her fingers are tucked away so that when she falls, the cast will take the fall and not the hand. She is completely unfazed by the loss of her hand. It barely bothers her at all. She uses the cast for support and uses her left hand for everything else. Tonight, she set the table for us for dinner, carefully handling the heavy plates and neatly placing the silverware and napkins. At one point, Chad tried to help her. Gracie stopped him. “No, Daddy! I can do it myself.” And she did. No problem.

Grace will not be undergoing the endoscopy tomorrow. I called today to reschedule the appointment, telling the person on the phone that I didn’t care how long we had to wait but the procedure had to happen first thing in the morning. Turns out his next morning appointment is in a week—we don’t even have to wait. I also emailed the doctor with my concerns about the possible infection last week; he has not responded. When I spoke to the receptionist, though, she assured me that he would see the email Monday. I in turn assured the receptionist that I would cancel the scope if he did not respond, because I will not put my girl through an unnecessary and invasive medical procedure. She goes through enough.

Instead of spending tomorrow hungry and worried, we are going to do something we don’t usually do. I took the day off for Grace’s scope and am not going to work now that it’s cancelled. I’m playing hookie (kind of). We are going to have fun together, just the kids and me. We are going to make the most of this almost-last-day of summer. We’ll go to the zoo and have a picnic, then maybe wander a while before coming home. We will not have a schedule; we will just adapt to what the day brings. We’ll emulate Gracie.

Her adaptability is truly what makes her amazing. It’s not just amazing that she has a very rare medical condition. No, her amazingness comes from her ability to adapt. Despite all life throws at her, Gracie handles it with—well, with grace. Though other kids with perfect arms may not have been able to get their own pacifiers, she was able to get hers. She learned to walk despite what most doctors would agree are impossible odds. She is never hindered by other people’s perceptions. She makes life heavenly. She is Amazing Gracie.❤

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Guts ‘n’ Stuff

We have largely been looking forward to today’s appointment with the gastroenterologist. After three months of a strict gluten-free diet, we were anticipating an appointment where we would tell the doctor that it didn’t work, nothing changed, and could she please start eating normal food again. I was dutifully preparing to tell him all the idiosyncrasies and hiccups we experienced, like how the antibiotics she took in early July when we thought the bone was starting to become infected gave her horrible diarrhea—something that doesn’t really happen anymore since most antibiotics aren’t very effective for her. (Her reaction to the antibiotics made me realize that the arm probably was never infected, especially because when she took another course of them later that month for the decidedly infected finger, she had no diarrhea at all.) I printed out the genetic research study’s findings for him so that he could see that gastrointestinal motility dysfunction is reported with this condition. I had it all rehearsed and ready to go.

You know what they say, though, about the best laid plans…

The first part of the appointment went according to plan. I told the doctor about Gracie’s new diagnosis and how the GF diet didn’t change anything for her. His response stopped me in my tracks: “Well, let’s schedule a repeat scope as soon as possible so we can see if she does have celiac. Can you do it this week?”

I didn’t even get a chance to offer my rebuttal because I was so stunned. She has to go under anesthesia AGAIN? Again so soon after the last time? He didn’t tell me he was going to re-scope her after the GF trial; what he told me was we would try the diet and if it worked, it would prove that she had celiac disease. I thought that was enough. I feel betrayed.

The doctor said that if the changes are still present on Grace’s small intestine, we will know for sure that she does not have celiac disease. If they are gone, it is his assumption that the gluten-free diet cured the intestinal lesions.

It took me a few hours to realize why this situation troubled me, other than that I hate having to tell my child no, she cannot have cupcakes at the birthday party, or garlic bread, or french toast, or any number of other delicious foods because they contain gluten and are not a part of her diet. No, the situation troubles me because all along I’ve been working under the assumption that the horrendous diarrhea Grace experienced last August and September was due to some sort of infection (after a solid six weeks of extreme diarrhea, it suddenly disappeared the day after she was admitted to the hospital and started on IV antibiotics).

If it was an infection that caused those initial changes in Grace’s intestine, there is a good chance that the infection has fully healed in these last eleven months. If the infection is fully healed, Grace’s intestine will no longer have the scarring that led to the celiac diagnosis. If she does not have the scarring (and don’t get me wrong, I sincerely hope it has healed), then she is stuck on this awful diet forever. For the rest of her life.

When I initially discussed with this doctor that I did not believe celiac was the cause of her month-and-a-half of diarrhea last fall—because we did not change her diet at all during or after that time period, and the only thing that changed was her antibiotic use, and the diarrhea stopped abruptly when she started the antibiotics—the doctor seemed to agree with me. He said that the number one cause of the intestinal scarring is celiac disease, but numbers two through five were types of infections. At that time, he recommended continuing with a regular diet and following up in six months. After six uneventful months, he told us that the only way to rule out celiac disease would be to try a gluten-free diet. (Nothing about a scope!) He gave me the choice: try a gluten-free diet and see him again in three months, or continue status quo and see him in six months. How I wish I’d have chosen the second option! If I had known that he wanted to anesthetize her again, I probably would not have opted to try the GF thing.

Grace is having her scope under anesthesia next Tuesday at 2 p.m. Because of the anesthesia, she will have to be NPO (nothing to eat and only clears to drink) the entire morning—she will not get to eat breakfast or lunch or snacks. She is sure to be cranky and emotional, which will probably not help my general feeling of unease about the whole thing. And, obnoxiously, even though I told the doctor specifically that early mornings work better and Wednesday would be a better day (because I’m already set to work from home that day), the scope is scheduled for Tuesday in the afternoon. Thanks, doc. It’s not as if I thought my schedule was more important than every doctor’s, but a little courtesy would be nice.

Today was a hard day. It stinks to get unexpected bad news. It stinks to spend half the day driving to and from the doctor’s office on the other side of town (why won’t he see patients in the Denver office anymore?!) only to have devastating news delivered at the distant appointment. It really, really stinks to still have to devote six more hours to work in the day while trying to process bad news. (If I took a sick day every time we got bad news, though, I’d never get anything done.)

There’s not a lot of hope for a good outcome in this case—either Grace will have to remain on the GF diet indefinitely or she still has scarring on her intestine. It’s a lose-lose situation. However, if anyone wants to send good thoughts for an outcome I can’t anticipate that is a best case scenario, I’d appreciate it.

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Special

These past few weeks have been filled with specialist appointments. We saw ortho a few times (seeing her again on the 15th, and who knows how often after that), Grace had her MRI under anesthesia, her annual ophthalmology appointment was last week, she sees GI again on Monday, and we saw a new doctor yesterday.

The new doctor works in the Inherited Metabolic Disorders clinic at Children’s Hospital. We used to see a different doc in the clinic. She was great. She had an MD and a Ph.D., so I affectionately thought of her as “Doctor Doctor.” Unfortunately, though, she moved out of state in 2014, and we haven’t been back to the clinic since, until yesterday. The last time we saw Doctor Doctor, we had exhausted her knowledge. She told us at that appointment that she had nothing more to offer us. It seemed pointless to make a new appointment with a new doctor and have to start all over again, if the extremely cerebral Doctor Doctor couldn’t think of anything.

Dr. McC, the ophthalmologist, had been urging us to return to metabolics for a while. She spoke to one of the docs and explained our situation and he agreed to provide continued care to Grace, should we ever want it. It seemed like a waste of time to me, though, to have to try again with an unknown doc at the hospital where we have had so many bad care experiences.

That all changed when we got Grace’s diagnosis earlier this summer. Suddenly, I needed the advice of a geneticist. I needed to know whether it truly was an autosomal recessive condition that would make every subsequent pregnancy risky, since we’ve been not trying not to get pregnant for several months. I called and took the metabolic doc’s first available appointment, which at the time was six weeks out.

Despite my trepidation, the appointment was not a total waste. We got there right on time and were quickly ushered into the little room where we would see the doctor. It did not take too long for the first doc to come in—or should I say, the first two docs. There was a geneticist and a psychiatrist. (Not sure why the latter was there, but he was very nice.) The geneticist had not realized that we had gotten a diagnosis. (There is poor communication at that hospital, which is one of the things we have had trouble with in the past. The intern doesn’t communicate with the resident, the resident doesn’t communicate with the attending, the attending doesn’t communicate with anyone, and it’s all a big mess.) We spent quite a while with the geneticist, going over all of the aspects of Gracie’s care. Grace was very good through it all, mostly just playing with the toys I brought for her and listening to our conversation.

One of the things I learned from the geneticist was that each pregnancy has a one-in-four chance of producing an affected child. I knew this already, but needed to have it confirmed by a doctor. We will not try for more kids—a child’s health is not something to gamble on. I also learned that Gracie’s particular mutations have never before been reported. That explains why she is so unique. She is unlike even the other people with the PCARP diagnosis, and perhaps it can all be explained by her specific mutations. I learned that they are unsure what metabolic process causes the genetic mutations to manifest the way they do, but perhaps it has to do with heme transport. Interesting. The geneticist eagerly agreed to contact the doctor at the University of Washington who is researching this condition. Finally, there is a doctor interested in contacting the research physician!

The last thing the geneticist discussed was gene therapy. He noted that if the researcher is studying a group of people affected with PCARP, perhaps they will discover the cellular mechanism that causes the phenotype (presentation of symptoms), and then they can work on treatment options. He agreed that if we can find a way to give Grace her sight back, it would really enhance her quality of life. He also agreed, thankfully, that it is not in her best interest to restore her ability to feel pain. She has done so much damage to her body that she would hurt all the time if she could feel it, which he understood. He was a good doctor and a nice person, too. When he left the room after over an hour, he remarked that the other doctor would be in shortly.

It was about an hour and a half later that the other doctor finally entered the room. By that time, Gracie was DONE. She was hungry and thirsty and had eaten all her snacks and drank her water, she had played enough with her toys, and even watching videos on my phone had gotten old. She was ready to go. I was feeling stressed, too. Even though I had my computer and had been working during the wait, I was feeling the pressure to get back to the office. We only spent a few minutes with the metabolic physician. He remarked that no one at Children’s Hospital has ever seen anything like this. He confirmed that there would be a 25% chance with each pregnancy of having another affected child, but urged us not to worry about getting pregnant because they could do pre-implantation genetic testing to discover whether the fetus was affected. I laughed and told him, “I’m 38, we already have two kids, and we wouldn’t terminate a pregnancy. We’ll just try not to get pregnant.” Gracie didn’t like to hear this—she started crying when I said we wouldn’t have any other kids. She so wants a baby to nurture; it stings that I cannot give that to her.

The metabolic physician had nothing else to say, so through Gracie’s cries I packed our things and loaded her into the stroller and hustled out of there. We did all the things I had bribed her with to ensure continued good behavior—we rode the glass elevator up and down, we saw the Lego hospital, we looked at the cool perpetual motion machine with the balls and toys, and we visited the cafeteria for popcorn. She earned her rewards; that was a very long appointment.

Although going in I did not have any hope for a good appointment, all in all it was not bad. The geneticist was very nice and very personable. We will learn more about the condition and what to expect for Gracie’s future after he contacts the researcher. We know that procreating is a bad idea at this point. And we know that Gracie is truly one of a kind—she is one of only a couple people in the entire world with that diagnosis, and the only one with her particular mutations. She’s amazingly unique.

And just plain amazing.

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