Medical Mumbo-Jumbo and the JH Visit

As expected, I was a nervous wreck before our appointment at the Hypotonia Clinic at Johns Hopkins Thursday morning. Like sweating bullets nervous. Scared to death that would be the day we'd get *bad* news. But we didn't. It was generally a very encouraging and optimistic appointment.

We spent about 30 minutes with the genetic counselor who asked us what our biggest concerns are, asked what Sam is and isn't doing, and talked about what tests she'd already had. It was clear that she'd already read Sam's medical records, which was reassuring. Then, we spent about 45 minutes with the doctor, who was equally kind, compassionate, and thorough (also clear he'd read Sam's records). Sam even showed off some of her newest skills . . . the butt scootching and the transition (that's right, she's taken it bi-coastal now!) and he did all the usual geneticist super-super detailed exam stuff.

In the months leading up to this appointment, I'd painted several catastrophic scenarios . . . talked myself into and practically diagnosed Sam with several different disorders, and just generally, freaked myself out over and over. I'd kept a list of the various things I'd come across and worried that Sam had, and most of them, the doctor shut down instantly. There goes my google-ologist degree. This appointment was a good lesson to me that just because my child sort of-kind of sounds like another kiddo I've read about online or sort of-kind of fits the symptoms of some various "thing," not to diagnose her with it. That sort of thinking . . . the catastrophic thinking that is sort of part of who I am . . . is only hurting me, and robbing me of my ability to enjoy life, day by day. My new goal: Stop catastrophizing (a word I'm stealing from a friend). A lofty goal for me, but necessary.

Back to the appointment. One of the diagnoses I'd had many a panic attack about is Rett Syndrome, which is a devastating developmental disorder affecting females, where the girls generally regress fairly seriously and lose even the skills they have at one time . . . i.e. losing speech, losing ability to use hands, etc. . . pretty terrifying. On my board for mamas of delayed darlings, I recently posted about Sam not yet walking and us thinking about gait trainers. One of the moms posted back, "Your Sam sounds just like my ___." And then her darling was diagnosed with Rett Syndrome just a few days later. That shook me. To my core. I hated that I made that moment about me and my fears, but I did. And ever since, the thought has occurred to me over and over, and every time, I'd feel like I couldn't breathe. So, along with my other possible diagnoses, I raised this one with the geneticist at Hopkins. He said that he's rarely this certain about anything, and almost never speaks in absolutes, but that he could tell me he is 100% certain Sam DOES NOT have Rett Syndrome. He said he'd test for it if I wanted it for peace of mind but that he really thinks its a waste of money because he's that sure. So, crossing that one off my list of things that keep me up at night.

I also asked about mitochondrial dysfunctions, which are also terrifying. There are sort of groups of things that can cause low-tone, and we've already looked at Sam's brain (via her MRI in January, which was normal) and run metabolic tests (normal) but "mitochondrial" is another of those groups. The problem is mitochondrial disorders are nearly impossible to test for and diagnose. And, as the doctor at Hopkins said, can present in many many different ways. Fortunately, he doesn't think that Sam exhibits the major red flags for mitochondrial dysfunction (other than low-tone and balance issues, which are symptoms of so many things; she doesn't get frequent infections, she's literally only had like two colds in her lifetime and bounced back super fast both times; her muscles are actually strong, she's just lacking in tone, etc.) . . . . so he again feels pretty confident that's not the issue. That said, he's ordered blood work for various indicators of such dysfunctions, just to be more confident that that's not an avenue we need to be pursuing. I asked him if having a mitochondrial "dysfunction" necessarily = mitochondrial disease (which kids often die from :o() and he said no. His words, "there's absolutely nothing about your child that makes me think she's not going to live a long normal life span." Whew. So, while that one is a little harder to totally cross off the list of things that keep me up at night, simply because there are few ways to even definitely eliminate it as a medical possibility, I do feel better. Though I can't promise its totally off the list of things to keep me up at night . . .

He is running a genetic microarray on Sam to look for deletions, duplications, etc., but he said he really doesn't expect to find anything.

We discussed a few of his theories/possible root causes of Sam's hypotonia and developmental delays.

He suspects a connective tissue disorder, which would explain her super low tone and balance issues and her hypermobility (and thereby, her gross motor and expressive speech delays). Connective tissue disorders aren't that serious and are actually pretty common, and he said this isn't something that would prevent her from walking, running, etc., it just means its going to happen on a different time line, and that those things will come harder to her.

He also said he sees quite a few kids that share Sam's major "symptoms" but have no diagnosis -- low-tone, balance issues (which we'd attributed to low-tone, but he thinks the balance issues are separate -- all low-tone kids don't have the same bad balance she has -- though he said she's not ataxic), hypermobility, and a slightly big head. (She's 25th percentile for weight/height but 75th - 90th for head.) Those kids that fall into that category also usually have some part (neither me nor B can remember what part, but its small) of the heart that's slightly enlarged. Again, nothing serious, but something we'd need to monitor. Because he sees that so much, and she has the OTHER characteristics, he sent us for an echo of her heart; but that came back normal (always good!). He said that the medical community is pretty sure that this group of kids with those features share some sort of common syndrome or diagnosis, but that science just hasn't yet isolated the gene or mutation or whatever is causing it . . . he thinks that's probably two to three years away, but will eventually happen. In any event, the prognosis is still good . . . and the kids that he's followed with these characteristics do well, and he's never known of any to need any intervention regarding the heart issue.

Sam was an angel throughout all of the appointments. During the echocardiagram, she laid perfectly still, holding her dada's hand (I get so nervous during these things, I can never sit still; B is always the calm one, holding and soothing, which I'm so grateful for); and even the bloodwork went fairly smoothly. They sent us to their infusion nurses that regularly poke kiddos, they got it on the first try, and we had minimal tears and screams (from me and her!).

All in all . . . a very good visit. The doctor was so very very optimistic and encouraging about Sam and her long-term prognosis. And because I'm sure many will come across this post when googling the clinic, I just want to say that it was definitely worth our travels and waiting for the appointment. The thing is, all of Sam's doctors at home see some low-tone kids. Some. But I'd bet her general pediatrician sees very few as low-tone as she is, and even her neurologist doesn't see that many JUST like Sam. But this doctor? Low-tone is his area of research. Expertise. He sees TONS of low-tone kids that haven't yet been diagnosed. So, he gets it. And that's super comforting. He mentioned connective tissue disorders, which none of the other ologists have . . . so even if it doesn't turn out to be that, I just felt like he's in a better place to help us and Sam than any of the other experts we've met. He also will stay in touch with us, and if later, science finds something that fits Sam, he'll let us know so we can decide whether to pursue testing or not.

While having the blood tests pending is of course a little stressful and worrisome, we feel better. I'm sure over the next 8 or so weeks while we wait on results, I'll have my moments of panic, moments where I feel like someone sucked the breath out of me, but I'm truly going to try not to.

It was a stressful week. An EXHAUSTING week. After the appointments, B and I just hugged and hugged and talked about how *this* (Baltimore) certainly wasn't a stop on our journey we'd ever imagined, but that we both knew it was well-worth it and it was the right thing to do for us and for Sam. And on the way home on the flight, we again talked about how optimistic the doctor had seemed. That she'd walk someday. Run someday. And while that makes us very very happy to think about, B looked at me and said, "and if she doesn't, so what?!" and I said, "right." and for the very first time, I know we both meant it. Usually those conversations end in me crying and saying, "but she will. I know she will. The doctors think she will," and getting mad at B for even making such a suggestion. But the truth is . . . it doesn't matter. Yes, we hope she will. But, its her story. So, finding myself in this place of peace, with my husband, with so much optimism and promise, feels better than anything has in a long, long time.

We found love in Baltimore!

The details of the much-anticipated, long-awaited, super nerve-inducing appointment at JH are following, but for now I just had to post some pics of Sammie B and her main man, Joe.




Joe's mama and I connected on one of my online forums for delayed kiddos, and when we decided we were going to Hopkins, she said she'd drive THREE hours to meet us! So glad she did -- it was a wonderful day, and a great way to spend our pre-appointment day. It is SO very very refreshing to meet *new* friends that just get it . . . and that was just the case, L and I chatted for hours about our sweet beans and what their delays and therapy schedules and everything under the sun means for our lives. With no lengthy explanations needed, just chatter. Without skipping a beat. I'm now trying my best to convince her to join me for BlogHer 2011 in San Diego!!!

Oh, and true to form, Mr. Joe was actually way more into me than he was to Sammie B. I tried to explain "cougar" to him . . .



The second he could get away from Sammie B's hand-holding forwardness, he made a bee line for me.

I'm so glad we got to meet this little dude (and his mama) in person. We've been big fans for a long time, and now we're even bigger. Here's to two magical little kiddos!

Scared

Last week was an amazing week for Sammie B (and for me and B!). I literally felt like I was walking on sunshine all week. We had several more transitions :o) She's still not doing it 100% by herself everytime, but sometimes she is, and the other times, she just needs a teeny tiny big of help. And her pride in herself when the transition is done is PRICELESS. And days 2 and 3 of school were just as fabulous as day 1. It was just the week I needed . . . leading up to this week, which is sure to be filled with some anxiety.

This week, on Thursday, is our long-awaited appointment at the Center for Hypotonia at Johns Hopkins in Baltimore. I'm nervous, though the "walking on sunshine" feeling has sort of kept me calmer than I'd expected. But, I'm not excited, and frankly I wish people would stop asking if I am. Hm... Excited that I have a reason to fly across the country to take my daughter to a doctor? NO. Excited that she likely will have blood work, etc.? NO. So, excited is NOT one of the emotions I'd describe leading up to this appointment, and I'm shocked that that is the first question everyone asks when they realize the appointment is this week.

Sam LOVES planes. Loves them. She's flown so much that when we pull up to the airport, she immediately knows where we are and starts signing "airplane." But all of her previous trips have been FUN ones, and my heart will be a bit heavy as we board this plane, knowing that it is taking us to a doctor appointment (where needles are likely). So, not excited. Quite frankly, it stinks.

There are parts of the trip that I AM excited about . . . Wednesday, Samantha has a date planned with another four-eyed cutie, Joe. Joe's mom and I are going to take our sweet beans to lunch, to see the harbor and then to a children's museum. (B is headed into DC for the day to lunch with an old friend of his). Friday, we are going to take Sam to the Baltimore acquarium. So, exciting things sandwiching the OTHER day of our trip - appointment day - Thursday, which I'm just not excited about.

I'm scared. See, part of me wants to know 'why' certain things are just not coming easily to Sam, why she's so very very low-tone, but the other part of me (a much bigger part) is just content and COMFORTABLE in our grey area of no diagnosis (particularly since we have seen neurologists, geneticists, etc. -- so its not like I'm content with not knowing and have been just blindly going along and not looking for an answer, we have, but didn't find one, and settled into our "no answer" comfort zone). Without a label or diagnosis, I've finally finally (most days) reached a place of peace. But of course, (and our sole reason for going to Hopkins) we don't want to stop our search for answers prematurely and have there be something we are missing that might be treatable. So, we go.

I guess what I'm most terrified is getting an "answer" at Hopkins that somehow turns our world upside down. I can remember SO very very clearly the feeling after Sam's first PT evaluation when the PT said, "have you seen a neurologist?" I felt like my entire world had turned upside down. I could not function during the period it took for us to get an appointment with a neurologist . . . and even though the neurologist never found anything going on other than Sam's low-tone, we've had many periods of worry and panic over the last year and a half. But lately, lately, I just feel like the ship (that is our life) has righted itself. Like we've found our new normal, and we are just at peace. Not every second of every day, but most of the time. Peace. And, I don't want to go back. Back to that feeling of having my world literally turned upside down.

B's cousin sent us the sweetest message, which (quite insightfully) recognized that this is not a trip we are likely "excited" about . . . he said he just hopes that the trip goes as smoothly as possible and that the people we meet there are compassionate, intelligent and insightful. I hope those wishes for this trip come true. And, more than anything, if there is an "answer" to come out of all this, I hope it is one we can find peace with . . . and one that won't prevent our sweet girl from living the long, full, healthy, magical life she deserves.



She fills my world with such magic and sweetness.

A Step-by-Step Guide to THE TRANSITION (By Sammie B!)

In case my post earlier didn't adquately describe the infamous TRANSITION, here you go, in picture form :o) (captured via blackberry by our ever-loving nanny while I work late :o( because sometimes, that's what balance requires!)

STEP ONE: Lay on your tummy, looking super cute.



STEP TWO: Get your bum in the air, wave it like you don't care, and PUSH with your arms. (Now is NOT the time to worry about your messy hair!)



STEP THREE: Keep PUSHING with those strong arms, ease back onto your cute little bum, and then (with some great effort) wriggle those leggies out from under yo bad self!



TADA!

STEP FOUR: Finish that OT session and go out and party like the rockstar you are!

Our Bee - Sammie Bee

"Bee" is one of Sammie B's many nicknames. Her PT always always calls her "the Bee" even in emails to me, which I just love. And to me and B, the "Bee" has started to symbolize hope for all that is ahead for OUR BEE. I wore one of those "make a wish" string necklaces with a bumble bee on it, until THE BEE yanked it off on Monday (but promptly signed "sorry!"); I love to find little bumble bee t-shirts and onesies for the Bee, etc. And I didn't even know that there's this whole notion that most human engineers do not understand HOW bumble bees fly; they just do. Pretty neat. Even if it just a myth (may be!), I like it.

Aerodynamically the bumblebee shouldn't be able to fly, but the bumblebee doesn't know that so it goes on flying anyway. ~Mary Kay Ash

On Balance - A MILP Kind of Post

This blog runs in three little circles -- (1) SN mamas who read it because we share some aspects of our journeys as mothers (well and because who doesn't love to read about a magical rockstar?!); (2) people who know us who I've shared the link with to get updates on us and Sammie B; and (3) MILPS. That last one is "Moms in the Legal Profession" -- I'm part of a weekly "round-up" of lawyer-mama blogs. But I realize that the last sort of "sector" of my life gets little airtime here . . . at least lately. Part of that is because writing about work isn't as fun as writing about Sam, but its also (more so) because I come here to write about my struggles and challenges, and well, work hasn't really been much of one lately. My hours have been low low low for three months. After trial in June (three weeks out of state away from my fam; billing hours like a MAD WOMEN), I took nearly a month off, and getting back into the groove has been hard. I've had the luxury in my three years as a lawyer of mostly working on one HUGE case at a time (like 200+++ hours a month for 6+ attorneys huge, or for me, a little less because of my alternative schedule).

After trial though, it seems like every case I get on seems to settle, so then I'm back on the market looking for another case . . . and as a result, I've spent much of the last few months working on three or so smaller cases, which makes managing my work load a newer challenge. Trying to figure out if the cases I have are enough to amount to a full work plate, and upon realizing they are not, trying to find aNOTHER case to add that won't result in a plate that is WAY too full . . . and, it gets tricky saying to a partner, "I can't jump on X case, because . . . " when your hours are low, but at the same time, I can't take on a case that will require tooo much of my time b/c I DO have to remain committed/able to work on the smaller ones I'm already committed to, and I AM a reduced schedule attorney. Navigating all of this is tricky at times (My firm doesn't have work load coordinators; we are our own work load coordinators). But one of my cases IS going to get super busy, and so I don't want to commit myself to things I can't handle. This is a new challenge for me.

The low hours has also allowed me to focus on Sam the last few months --After celebrating her September birthday, I spent well over a month dealing with her annual reviews, etc. with the regional center, preparing for those, advocating (read: fighting like mad) to get her into the center-based program (preschool), getting all of her medical records for our upcoming JH trip (which is next week! As an aside, I'm surprisingly calm about it, though I know the freakout will set in soon), etc. So, it was nice to be able to do what I NEEDED to do anyway . . . sit at my desk and manage my personal life a bit without a million deadlines looming.

But, at some point I KNOW I have to get more hours in, or I will screw myself for the year (our billable year is August - August, so those billing-like-mad-trial-hours counted for last year). I also billed more than my part-time commitment last year . . . and sort of want to see if I'm compensated for that come bonus time. I think that will, rightfully so, help me measure my loyalty to my firm (which I have to say is pretty darn high -- I can't imagine a group being more supportive of my schedule, my Sam-stuff, me traveling when I need to, working from home when I need to, etc).

Although I worry that some partners are looking at my last three months hours and raising eyebrows, I'm confident that the ones that know me aren't. If I hadn't already proven it, my pre-trial and trial work proved that when necessary, I kick my ass into the highest of gears, and work as hard and as much as I need to do good work, even when that means working on my days off, weekends, etc.

I of course deserved some down time post trial (partners TOLD me to take it); but I just worry I've stretched it too long . . . and I think on the flipside, I'm ready to be super busy and challenged again, which I think is just around the corner. My favorite partner (who is also in charge of one of my three cases now) called last week to tell me that three of our team members will be at trial on another case in January, and thus that he'll need me to spend more of my time on the case (yay!) . . . including taking over some of the tasks from the partner that's going to be out. The partner that's WAY senior to me. His tasks -- to me. Yep, a little bit overwhelming, but also a huge vote of confidence from said partners. I'm glad. I think one of my weaknesses is that I work my hardest when I'm under "the case is about to implode" types of deadlines, and other times, when things just sort of-kind of need to get done soonish, I have a VERY hard time motivating myself to do them (and not instead focusing on Sammie B and that sector of my life). . . so I'm excited to know that I'll have depositions, expert reports, etc. on my plate . . . big deal stuff that will require me to focus and work hard and challenge myself.

Anyway, so "work-life balance" hasn't been a big topic on here lately because I haven't really been struggling with balance all that much. But I know litigation is cyclical, and the crazy cycle is about to start, so balancing work and life is going to be a challenge again in the coming months, but I think I'm ready for it. Glad I was able to get Sammie B in her new preschool, on her new schedule, so so grateful that my schedule allowed me to focus on that, and now that we have yet another "new normal," I'm ready to juggle. I think.

A BIG DAY . . . so BIG

Yesterday was a big day for Sammie B (and for me!) . . . a day worthy of a letter. So here goes . . .



My DEAR Sammie B:

Yesterday was a big day for you. A big and busy day (so busy in fact, I'm not sure who was more tired, you or me!). You started "school" for the first time! And I got to go with you!!! It was a VERY special day.

I had to wake you up early -- after you practiced your new quadriped skills in my bed until 10 pm the night before! You (like your mama) are NOT a morning person, so you didn't appreciate being woken up early, and didn't smile too much in our "first day" pictures. But, I took them anyway!



You wore a sassy new outfit that I picked out and your Nana bought for you (skinny pink cordoroys friends!) and you had a special new backback that says "Sammie B" on it that your Gigi bought :o) Special gifts for a special girl. And yes, this begins for you -- in the tradition your Gigi started (and continued) for me (for more years than she thought possible) -- the "new first day of school outfit" tradition! (Gigi says she wouldn't have made such a big deal out of my first days of school if she'd known I would stay in school for TWENTY-THREE YEARS).

We got to your school early, so we could put your things in your cubby and get acclimated a bit. . . (and snap a few more pictures). You'd already seen your classroom, so you seemed comfortable right away, and you were happy to sit in the tiny little chair (just as I was to see your cuteness in it!).



Then the other kiddos and parents/caregivers arrived and we did opening circle time. At your school, the parents/caregivers get to stay for that everyday, which is pretty cool! Through circle time, free play time, snack time, outside play time, activity time, lunch and closing circle, you were amazing. You were you. Amazing little observant Sammie B. I watched you and could tell that you were just taking it all in. Watching you have new experiences is probably my number one most favorite thing in life. It melts me. Every time I asked you if you liked school, you smiled and nodded "yes" with enthusiasm, and you gave your teacher a whole lot of flirtatious Sammie B smiles. I'm pretty sure he's already fallen in love with you. Hard not to. They are all very impressed with your signs (you have "backpack" now!). At closing circle, we sang "Twinkle Twinkle" and I got tears in my eyes. Sappy mama! I'm so glad I got to share that day with you!

I watched the teachers, PT, OT, and teaching assistants with you and with the other kiddos, and it just reinforced what I knew . . . this school is going to be so wonderful with you and for you. So so wonderful. So here's to new adventures my little girl!

After school, we rushed home for a quick celebration (also tradition in my family!) with a cake and some small presents . . . Your loving nanny, her mom, and friend joined us. (There's some things I'm going to do a little different than Gigi did ;o) like buying, not making, the first day treats!).





After our party, it was off to hippotherapy. It is a LONG drive, and you slept the entire way (wish I could have!).



After horses, a quick bite to eat on the way home (pizza, our new Tuesday night tradition) and then the long drive back. I called dada on the way back to tell him all about your day (he's so very sad to be out of town this week of all weeks!).

And when we got home, there was yet another big "happening" in our house. I put you in your bedroom floor while I folded a quick load of laundry and you were just rolling around. I looked over and you were on your tummy, and then up on all fours! THEN I said, "okay, sit up," and you did! FROM FLOOR TO SIT ALL BY YOURSELF. THE EVER-ELUSIVE "TRANSITION". See, we've been working on THAT transition with you for about a year and a half. Our PT kept telling us how important it is for a kiddo to be able to go from belly to all fours to sit. A year and a half ago, that seemed MILES away. We had to do every single step of it for you. You HATED it. Over time, the tears got fewer and the amount of the "work" we did lessened, and you did more of the work yourself. There were times when I secretly thought the stupid transition was just that . . . stupid . . . and wondered why the PT insisted on working on it EVERY session. But we did. We -- you --- worked oh so hard. And yesterday . . . you did it. To see you on all fours, smiling from ear to ear, then working your way back to your bum . . . priceless. My girl -- you worked so hard. I screamed with glee, you laughed and smiled with sheer delight and pride, and I immediately texted your dada, PT and nanny "!!!!!! TRANSITION !!!!! She just did it all by herself; 100% bee, from belly to sit!!!!" I got excited messages back from all three within instants.

And then, (after you practicing your new skill several times in bed) . . . we crashed . . . hard.



A big day indeed. So, my sweet girl, while I can't promise that I won't ever get discouraged with all the hard work, or that I won't ever wish you didn't have to do all these therapies (because I DO wish things were easier for you) I can promise this . . . no matter how much "work" is needed or how much time lapses in between these great smilestones, I'm there. With you. Working with you, smiling with you, giggling with you. Watching you in utter and complete amazement, and screaming with absolute glee when the smilestones happen. And, as one of my friends reminded me, while speed and agility may not come easily to you . . . some things do.

Like sweetness
Style
Spirit
and magical magical rockstar'ishness.

That's you.

Magical rockstar.

Happy first day of school my sweet girl, and here's to new adventures, new smilestones (and the tiny inchstones that get us there), and so so much more.

Your ever lovin' mama.