Sunday, December 12, 2010

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.

8 comments:

Jana said...

All 3 of you are so brave, so amazing, and so inspiring. Go Sam!!! And GO YOU! I'm so happy things were so positive and you got such good information from the doctor - and know you have lots of people out here supporting you and your family, regardless of the outcome. HUGS to you all!

EH said...

So glad that it went so well! It sounds like B is a wonderful support for you both, too. :)

marie clare said...

so glad you had a really great encouraging appointment and the Dr quashed some of your fears. Sounds like a great trip!

Kristen said...

oh wow..i want to email you right now! that group of undiagnosed kids with the big head, balance issues, hypermobility....that describes my P to a t! his head is like 99th percentile. wow. anyways, another mri tomorrow. i am praying that everything is still a-ok. so glad you went to JH. and so glad you worst fears were put to rest.

Julie said...

So glad you had a good appt! How awesome to hear that there's no reason to think Sammie won't run or walk!! That's HUGE. I also love what you said about if she doesn't-so what. I can honestly say I'm finally at that place now with our situation. If Bella never does-so what?! It doesn't define her. It's such a freeing ( I think that's a word!) feeling. I still wonder if JH would help us-we'll see what happens. So glad you had a good trip!

Gina said...

You are all so lucky to have each other. I wish all of the parents of my students with delays were just like you! Love love LOVE your writing, by the way..I'm definitely going to have to go back and catch up when I find a few minutes!

LL said...

I'm just now getting caught up, but the end of this post made me cry and I'm so glad the whole visit went so well. I kept thinking about it at random moments over the holidays and reminding myself to check back in. I'm really so glad it was positive!

Felicia Kemp said...

Hi, I'm a wife, mother, lawyer, and have a child who is getting evaluated in very much the same way your daughter was before you rec'd a diagnosis. I found your blog by googling "hypotonia support" and reading your blog certainly helps me to know we're not alone. To see about our little guy, our family blog is www.thekempfamilyadventures.com, and click on the "Grayson's Journey" tab. It's hard enough being a parent, but the constant additional worries are incredibly taxing. Thank you so much for sharing your story. Felicia