The Road to Here: A Diagnosis

A few days ago I posted – very late – about Aurelia’s 1st birthday. In that post I talk a bit about her challenges and how she’s been our mystery baby. I wrote that post more than two months ago and since then, just in the last couple weeks, we got an answer to the hundreds of questions we’ve asked ourselves and the countless doctors, therapists and professionals we’ve seen and talked with over the past 14 months.

This post is long so if you know the whole story or just want to skip ahead, feel free to scroll to “The Diagnosis” below.

THE STORY

For those that don’t know the whole story, Aurelia really struggled when she was born. No one could tell us why, but there it was. She had a cephalohematoma (large mass of blood on the top of the head), transient tachypnea of the newborn (100-120 breaths per minute instead of the 40-60 that is typical), excessive acrocyanosis (purpling of the extremities). She looked like she was struggling – it’s so clear in the pictures from that time – yet test after test came back negative and doctors could do nothing more than shrug their shoulders.

 

A month – and many more doctor appointments later – the cephalohematoma disappeared; six months after that, the tachypnea and acrocyanosis were mostly gone. But Aurelia has continued to struggle. She hasn’t progressed like our big girls. Her words are coming much later (but are oh-so-sweet to hear), her physical development is way behind typical, her vision is shockingly bad. She has chronic reflux and severe chronic constipation. More doctor appointments have ensued, along with an early intervention evaluation, therapies, tests, glasses.

Through it all, she is making strides every day, at her own pace. The glasses made a huge difference when she got them. Before, she never focused on anything except her hand held inches from her face, or my face or Keith’s when one of us held her close. The rest of the time, she looked as if she were living in a daydream, her eyes unfocused and not seeing the world around her. She couldn’t find us when standing over her and changing her diaper, much less across a room. When we put her glasses on that first time, the change to her focus was instant and in the weeks to come, as she came to understand what she was seeing, she began to look at other people and things several feet away or across a room; she reached for toys lying near her, ones she’d never realized were there unless we put them mere inches from her face; she engaged with her sisters, laughing at their antics as they performed for their new audience.

She’s developing in other ways, too. She’s started to sign. She is stable when sitting now and rolls with intention, to get to the person or thing she wants. She’s putting weight on her arms to push up on her belly or catch herself when leaning over and she is able to lie herself down to the side with control, as opposed to just falling backward. We are working on teaching her how to sit up from a lying down position. She has discovered our noses. Each and every new, tiny movement, bite of food swallowed, attempted communication is hard won and cause for celebration. We cheer her on every time.

As we’ve continued to work with her and help her to grow and push her limits, we’ve also continued seeking answers. Last month, we thought we were at the end. We’d seen so many specialists and gotten the all clear (or at least the “we don’t know, but it’s nothing we can help you with”) from almost all of them –  her MRI results came back and, after a brief scare that suggested a need for spinal surgery, she was given the all clear by both neurology and neurosurgery; we got a bunch of genetic tests back and all were negative; she’d been cleared by pulmonology, cardiology, and others. We were prepared to move forward with our mystery baby, never knowing the answers but helping her achieve all she could.

Then another test, one insurance had initially denied, was approved on appeal. Called a chromosomal micro-array, it screens for a huge number of genetic abnormalities and there is typically a slim chance – 10-15% – that any positive results come from it at all. If we did receive a positive, our genetic counselor told us, more than likely it would just point us in a direction for more testing. A definitive diagnosis was unlikely.

THE DIAGNOSIS

We got a call on a Monday that they’d found something; we needed to come in for the details but the first available appointment wasn’t until Friday. Could both of us make it that day? She wanted to be sure we’d both be there. After a nerve-wracking week, Keith and I made our way to the hospital, both feeling more than a bit nauseous.

When we finally got the news, it was something we’d never heard of, much less expected – Smith-Magenis Syndrome (SMS). A rare genetic syndrome, it is caused by either a partial deletion or a rearranging of the 17th chromosome. Aurelia has the deletion. They showed us the picture of her chromosomes; number 17 clearly has a shorter piece. It is typically a completely random mutation, but can rarely be passed down in families. We are awaiting testing to confirm where we stand in that regard.

The symptoms, in babies, are what we’ve seen – low tone, developmental delays, feeding issues, vision problems, constipation, language delay. Intellectual disabilities are typical, but highly variable. So far, Aurelia is at age level in her cognitive development.

With the diagnosis comes some concern over common and serious symptoms, so in the last weeks we’ve had to quickly see more specialists and have more tests run: kidney problems are somewhat common, so she had an ultrasound to check hers out; thankfully there are no abnormalities. We’ll go back yearly for checks on that. Hearing loss is common, as are changes to the anatomy of the nose, throat and ears, so we saw both an ENT and an audiologist. Her hearing is pretty good at this point and only a few minorish things are going on with her nose and throat (moderately swollen adenoids and larynx), but nothing needs anything more drastic at this point than a sleep study (for possible apnea) and some reflux meds. Her heart has been checked a couple times already and the minor defect she had at birth seems to, thankfully, no longer be an issue. That will be monitored as well.

The future is a big question mark. Even without hearing loss, many SMS kids don’t talk for years, so signing becomes a key form of communication. We’ve signed with each of the girls as babies and had already noticed how quickly she picks up signs compared to speech, so now we’ll be focusing on this even more and learning ASL as a family. She is expected to walk, but it may be another year before that happens and months before she crawls. Health problems, a compromised immune system, sensory issues, and behavioral challenges are all common but variable from child to child. An inverted circadian rhythm seems almost guaranteed and something unique to SMS (bye-bye sleep). We have no idea where Aurelia will end up with all this but we are so thankful that she seems pretty healthy at this point.

The stories we’ve found of older kids are often daunting and overwhelming; some are heartbreaking. I’ve had to pull back from my initial push for more information and look not at the stories of older kids with severe challenges and disabilities, but to limit myself to stories of younger kids, hopeful stories that show what we may face in the next few years. It’s all so new that I need to focus on how best to help my baby girl now, to allow myself time and space to learn about this incrementally, and to remind myself to take it one step, one day at a time and not get bogged down in the what ifs. I might still be in a bit of denial, too, honestly, but I think that’s part of the process.

A huge positive is that SMS kids seem to be generally happy and affectionate, no matter their other challenges. Happy…that is really the point, isn’t it? This news has come as a shock and we are dealing with a lot of emotions, but if we can look forward to our girl being happy, then the rest doesn’t seem so hard. The fact is, Aurelia is no different today than she was last week; we just have the label now. We have information that can help us better anticipate her challenges and, hopefully, be well equipped when new issues arise. Most importantly, though, we can move forward, enjoying our beautiful girl with the dimpled smile that melts our hearts. As long as she’s happy, we can deal with the rest.

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I thought about keeping this all private. It’s a lot to share with the world. But as we search for information on SMS and try to learn about it, we’ve discovered just how little information is out there. Aurelia’s therapists had never heard of it and the entire early intervention team from the local hospital has not had a patient with it in the past 10 years, maybe ever. There are a couple good websites/organizations that deal with it, but they seem pretty small. There are a handful of other cases in our state, maybe two others in our metro area. Looking for blogs, personal experiences or books on the syndrome turns up just a few that are current and of those, more than half seem to be from families in other countries, some speaking other languages. So, I think it’s important to share our story – for the next mama or daddy looking for answers, whether their child has been diagnosed with SMS or another rare condition, or is still waiting for answers and wondering why no one can tell them why so many little – and not-so-little – things are affecting their child. It’s all very new and we are still learning and definitely still processing, but hopefully just putting our imperfect story out there will educate others about this rare syndrome and make another family feel a little less alone.

Please see my new SMS page for links to more information on Smith-Magenis Syndrome. It’s a work in progress; please share any information you have that I’ve not included.