Wednesday, July 24, 2013

In Defense of a Cure

Should we cure Down syndrome? It is a question posed by The Lejeune Foundation on Facebook today. They haven't taken a stand, but they did link to a blog post that listed 3 reasons we may not want to cure Down syndrome. It's a wonderful post full of the insights I also have regarding a cure, but I also think there are major arguments for wanting to develop a cure.

During Mariana's first year of life my mother brought up something she had seen about people with Ds getting plastic surgery to look "normal". (I know, whatever that means, right?) My mom was surprised that there would be any objections to such a proposal as long as the people getting the surgery had the capacity to make the decision. My reaction was not so kind. I love the way Mariana looks. I love her eyes and her cheeks and her nose. I love her ears and her belly that may never be slender. As John Paul II put it, her body makes visible the invisible and I love every inch.

When I took a step back I realized I was considering me and what I wanted. I'm not exactly the best at accepting change in people. When my mother had a front tooth that needed to be fixed, I felt a little sad that her smile had changed. What was "fixed" actually took what I liked about my mom's smile. (I've gotten over it and my mother's smile is once again in my good graces.) What if Mariana has the capacity to make the decision to change her appearance so that the world doesn't judge her on sight? Could I, as her mother, refuse to support that?  I don't have to live with her face! While the harsh judgement of others might hurt me, it is she they would be judging. (I still have no answer to that question of support. She's my baby, and she's perfect!)

Mariana is delayed. At 16.5 months she wants desperately to catch up with her siblings. She wants to walk, she wants to talk, she wants to be like the other kids. Her behavior is that of a youngest sibling who wants to "Do it myself." But she can't. She will, someday, but not at the rate of her siblings. Her decisions will always be questioned, her ability will always be evaluated. She will always be under the watchful eye of her family and her doctors. What if she doesn't want that? What if she wants a cure? I may have accepted her diagnosis with ease, but will she?

I realize that a cure for Down syndrome threatens to rob me of the child I know. This question really isn't about me or Scott or anyone other than Mariana. I don't know if she'll see a cure as a reason to hope, but I'm not going to decide for her that she can't have it. She's a person and she'll have her own dreams and her own vocation, and that might include finding a way to live without the effects of her extra chromosome. Can I deny her that?

There is another reason for hoping for a cure. It is that dreaded number of abortions that occur when there is a prenatal diagnosis. How many people are not with us because they were conceived with an extra chromosome? How many parents were convinced that Down syndrome was a sentence? What if there were a cure, and what if it were able to be administered prenatally? Who among us would rather a child's life be terminated because we are afraid a cure might mean our children will change if a cure is pursued.

Should we question the science? YES! I posted here about my questions regarding that. I absolutely think we need to check and recheck this breakthrough. I do not feel any less protective of Mariana than before, and I'm not suggesting we run straight into the lab and sign up for human trials. Scientific research is a process, and should never be hurried. I just do not support the idea that we shouldn't ask, "What if we can?" and I don't think we should be offended by those who ask it.

Tuesday, July 23, 2013

Diary of a Sleepless Loony

I found my phone on the floor of the garage. This is my life now. A shell of a human who leaves things where she apparently threw them. It's not like it was next to the car where it may have fallen. It was nowhere near a place I had stood today. As much as I would like to blame my children, it wasn't them. It was me.

The thing is, I was only looking for the stupid thing because Kate is at a friend's house and I want to take a nap. Obviously the moment I lay down I begin the Litany of Possible Outcomes. You know, "If I take a nap, then.....could happen." Mae is yelling in her crib and the rest are fighting. I just told them to fight more quietly. (I also just misspelled Mae's name as May.(And misspelled "misspelled".))

Of course it began weeks ago, but last night I went for a PM run, where I proceeded to fall apart in front of my friend's eyes. We walked home. While standing outside some neighbors reminded me of book club. I went and stayed until 10. I got home and Mae was still up. It was lights out at midnight, but I couldn't sleep. My calves were screaming. I put on Biofreeze. I was cold. I couldn't settle. I fell asleep. Molly came in. At some point I fell asleep, 3:00 maybe?  At 6:30 Scott woke me and asked if I needed to sleep until 7. I said yes. He began to talk to me. I crabbed at him and got out of bed in a huff.

I barely register my kids' requests today. Melted cheese on chips for lunch? You bet! I can't remember what I ate, but it was something that's something. I don't know, I just know I'm not hungry and have the aftertaste of quinoa in my mouth. 

Someday I will get "enough" sleep. I wonder if I will recognize it. Will I think to myself, "Why I get plenty of sleep now-a-days."? I doubt it. I will go back to being that poor cognitive slob ungrateful for the hours spent unconscious.

Monday, July 22, 2013

I've Got Questions

Big news in the Ds community this week. It seems researchers can "turn off" the third copy of the 21st chromosome in lab conditions.  I have a developing thought process to this new revelation, and it's rather jagged, so bear with me.

First of all, I love science. I love that we can know things about the created world and that the more we know the more it points to an order of creation that is both logical and beautiful. So this scientific discovery is exciting to me just from that point of view.

Secondly, I do not think that just because we can do something means we should. I'm not a fan of embryonic stem cell usage because it treats individuals as things. Anything that reduces humans down to their usefulness is an unacceptable application of science. I also don't love the increasingly profit-hungry application of new science. Science is meant to be tested over and over so that we can understand the unintended consequences of the application before it is applied universally. Once we add profit to the mix the testing is skewed by motive and results are often iffy or worse, hidden.

The new discovery leads me to have more questions than answers at this point:
  • Combined with early detection could this therapy be applied in utero? If so this could make other Trisomies less likely to result in death for babies. Though Ms. Nora is certainly taking the "Not Compatible With Life" diagnosis rather lightly, it is true that many children with Trisomy 18 and 13 do not live much past birth or die during labor. Further, the defects associated with all Trisomies could be possibly eradicated. 
  • Could this therapy reverse the problems associated with Trisomies? If a child with a heart defect is born, would this therapy help the heart heal, or could the therapy help the child to become healthy enough for surgery? 
  • How long does the therapy last? Is this a life long therapy, or would there come a point where it is no longer effective?
  • For older patients, what would be the best case scenario for people living with Ds for many years? Mariana's neurological development is not the same as the typical person's development. Would the differences matter if this therapy is ready when she is older? What would be her experience if she suddenly does not have Down syndrome? Will her muscle tone improve, her synapses fire faster, her thyroid function better, or would this therapy just prevent her from deteriorating quickly as she ages?
While initially I discounted the possibility of this becoming a viable therapy for Mae, I won't just dismiss it. There are good reasons for hoping this could be a future aide for her. The future is a big unknown in this new world of Down syndrome. The amount Scott and I don't know outweighs what we do, and probably always will. Understanding what we do know and keeping abreast of any further success in this experiment is our only option at this point. Well, that, and enjoying our daughter as-is, but that's the easy part.

Friday, July 19, 2013

Quick Takes # I Don't Sleep Anymore

Tonight we get to make good on Kate's report card reward. Scott and I hired a sitter so that we could take her to The Melting Pot. She's pumped. She's decided who is ordering which course. It's so cute to hear her change her mind a thousand times about what course she wants to order. I think she's settled on the main course. I have a feeling we'll just let her choose all of them...then again maybe not. She's known for her indecisionitis!
Oh, Mae Bee. This child. We've had progress, boy have we. What we have is a toddler. No, she isn't walking, though she is free standing more often for longer stretches. But she is totally appropriately inappropriate. Hair pulling? Check. Face grabbing? Check. Fit throwing? Check. Dangerous curiosity? Check. Desire to get away from me when it's not a good time? Check. Desire to be held when it's not a good time? Check. Parent's who are just thrilled to see this stage stick? Check.
She peed on the potty, and then clapped for herself. Yes she did. I had gotten slack about putting her on the potty*. It's summer, we sleep later, life is moving slower, you know the drill. But last night before her bath I remembered to plop her onto the potty while I got the water temp sorted out. As soon as I sat her down, she went and then she looked at me with that grin and clapped.

She's been clapping for herself lately, letting us know she knows she is doing something good. It's funny when we play "Take it out, put it in" and she claps when she has done it. She also has this ball slide where you drop the ball onto the top and it spirals down, drops a level, spirals and drops. Oh, forget it, it's this thing. Anyway, she actually likes this toy now, but also claps for herself when the ball reaches the bottom. Or maybe she's proud of gravity. Either way it's so cute!
It's kind of funny how unprofessional I am. What I mean is that, typically, kids with Down syndrome will develop in one area at a time and stay rather stagnant in others. So, if she's excelling in speech, she'll maybe plateau in gross and fine motor. Except that doesn't seem to be the case right now. Toddlerhood is notoriously packed with new skill on top of new skill. The only thing that lags is judgement, thus the bruised and battered look many a toddler sports. But Mae just seems to be developing everywhere. I'm probably not the best person to judge because all her efforts seem to bear fruit, but I'm not seeing the plateau anywhere, though surely it's there. Then again, saying she can't is the best way to ensure sweet Miss goes ahead and does it anyway.
Attachment parenting. Ever hear of it? Can you avoid it? I have opinions. First of all, I do not subscribe to any parenting style except "Respond" and "Survive". Sometimes I'm in survival mode. Early pregnancy, postpartum and end of the school year are those times. Most of the times I try to respond to my kids' needs. Sometimes they need their space to figure things out. Sometimes they need to be by me all the time, and I have to be available no matter what. (I do draw the line at bathroom breaks and lock the door. I'm still a human being!) But as for this co-sleeping and baby wearing = better parenting stuff, I don't buy it. Perhaps that is because I couldn't do either of those things with Mariana, or perhaps because Kate wouldn't sleep if we were around and Paul was out of my arms as soon as he was mobile. I don't know. But I do know that trying to conform to a style of parenting can be dangerous if you don't stop and consider the kids in front of you.
We have the sleep issues. Mae is starting to cry when we put her in bed. The problem is that it doesn't matter if she's sleepy-but-awake, awake or fully asleep when we do it. Sometimes she's cries for a few minutes and goes to sleep. Sometimes she wakes herself up and wails until we get her. The dance can take hours. Last night it was midnight before she fell asleep for good. Yes, she's getting another molar. Yes, sleep regression is part and parcel to raising babies. Yes, yes, yes, it's normal. BUT, I can't seem to find the solution. I like order and routine, but nothing really works all the time with her. Last night I wanted to bring her in bed with me, but it's not safe for her to sleep in our bed with the other kids coming in through the night. She's sill has hypotonia and I'm not willing to risk it.

I'm also not willing to let her cry it out at all costs. I mean, a few minutes, sure. She's just annoyed and can get over that pretty easily. It's the lose-your-breath crying I will not tolerate. I just don't think it's okay, and it's not as though I'm going to climb in bed and relax when my baby is losing her mind. I've read all the books and I've come to the devastating conclusion we just have to gut through it. I'm staying sane with the knowledge that there is only one more molar to go and she won't be cutting them when she's two. Nothing lasts forever...well, except sleeplessness. I'm pretty sure that does.
School starts in a month and my kids just started sleeping in until after 8. This is a cruel joke. In one week I'll have to re-train Paul and Molly. Kate and Charlotte will be fine, but Paul and Molly will not just roll into waking up at 6:30 like it's no thing. There will be much weeping and wailing and gnashing of teeth. And there will be the return of Molly the Ragdoll. For the first few weeks I will be dressing a completely limp first grader. Luckily she is small for her age.

It is the end of the school year and the beginning of the school year that is slowly convincing me that large families that home school only do so because traditional school is such an ordeal. Between the start of the year and bringing $496.00 worth of kleenex and paper towels the first day, re-adjusting the household circadian rhythms and brushing too many heads of hair,  and the end of the year hoop-la event after event, stuffing too big feet into too small shoes because flip-flops are not allowed, and praying that the stapled hem on the uniform holds just one more day, it seems so much easier to teach them at home with You Tube videos and household chores. Maybe I will tackle the home school thing again, but the memory of the last attempt is still too fresh for me to be so optimistic about my ability to overcome my own sloth. Thus I'll soon be hitting Costco for school supplies. If you don't hear from me, I'm probably buried under boxes of kleenex and paper towel rolls.
For more Quick Takes, visit Conversion Diary!

Friday, July 12, 2013

Quick Takes: Summer Coasting Addition

I have been nearly a week without my girl, Charlotte and I don't love it. That is all I have to say about that.
Oh Mariana. First, we have to do hip helpers, which is rough for me because I think the are ugly. But ugly clothes can look cute on a baby. Exhibit A:
But you've seen these. Here is exhibit B
I mean RLY! This is before I put a shirt on her and I fully admit to enjoying the elderly cyclist physique for far longer than needed.
Therapy Tuesday, yo.
So we have red, white, blue and black hip helpers and tops that are super cute to go with. Mae hates them, which is good because they work. At one point some helpful souls suggested I just sew up her regular pants. They have not seen my craft room, which looks like Hobby Lobby went on a bender and threw up in there. It's a disaster of craft supplies is what I'm saying. There is no sewing until further notice.

Dear friends who are pro-choice. You may no longer use the argument that pro-life people only care about babies before they are born. Why? Because of this story.

I have kept up on this story because it showed up in my feed, and I was ready to jump in if there was no one else. Why? because that's how most pro-life people roll. You know how else we roll? We don't jump down the parents throat for considering abortion. There's a level of compassion for the parents that really ought to be highlighted here. No one involved bashed the parents, indeed their privacy has been respected throughout. Pro-life people are not Westboro Baptist types. Carry on.

Mariana also can do this.
Bow brought to you by the letter "R" for Ridiculous

That is called "push". I stack the cups, I say "wait" 7,000 times while I stack. She sits staring at the column of cups like a retriever just waiting to get the command to "get it". I say, "Push!" and she does. Then she claps for herself.
So if you are wondering what we did this week the answer is; Stuff. I went to Cosco, We went to PT and L came to take the bigs to the pool while Mariana visited with Mrs. J. I folded all the laundry and Kate put it away. I went to visit a friend who recently had a baby. We went to our friend's house and had a playdate with 13 kids and 3 adults. Life is decidedly unfancy right now and I LOVE IT. No one has practice, the chaos of getting ready for school hasn't begun. It's that lazy summertime that I remember as a kid. We're coasting through and enjoying one another.

I'm not one of those moms who can not wait for summer vacation to end. I love having the kids home all day. I don't rush to sign them up for camps and play dates and activities. While I do keep them up on their math facts and reading, I just love summer coasting. I have to wonder why people love being a taxi driver during the summer. Camp sounds exhausting for me. I'm so weird.
My running buddy is going to be the new 3rd grade teacher at the kids' school. I am so excited. I admit not knowing the other teacher because Kate didn't have her. Kate's teacher moved up to another grade, and she was great. Paul's pre-K teacher replaced Kate's teacher and I was over the moon. She is perfect for third grade because it's a huge year in learning independence with projects and reports, and Mrs. E is very nurturing. But now S is the other teacher, and she's very nurturing too and I'm so excited for third grade!!!

For more Quick Takes, visit Conversion Diary!

Saturday, July 6, 2013

Photo Explosion!!

This week Scott took vacation. Here is the photo evidence that it's not all therapy and laundry for the Frymans!
Monday we went to St. Augustine for a Greek lunch and a pirate cruise. Mae took a short nap while we waited.
The kids were taught how to sword fight.
Kate and Mariana were too cool for all that. 
Later we had a yummy meal at Aunt Kate's where we sat under an awning and watched the rain come down in sheets over the water.  It was stunning. Molly ate sautéed alligator tail. Our adventurous eater has been identified!

Tuesday was therapy day and Scott's birthday. We celebrated in a laid back way. He received all the Lowes cards a guy could ask for and a book from me. 

Wednesday Scott bought a new lawn mower and mowed the grass happily. Then we packed up for camping!

Mariana slept well, but Molly, Charlotte and Scott and I didn't. We left at 5 am with a bit of wisdom about taking a fan and some Benedryl next time. Oh, and not camping in July in FL. But it was fun while it lasted!

The fourth was fun and also laid back b/c SLEEP! We did sparklers w neighbors.

Mae now wears Hip Helpers and these are festive!

Scott left with Mae and Charlotte for C's adventure with Grandma this summer. The three at home and I went to our neighborhood party last night and are headed to the farmers market and the beach today. Three cheers for family time!!