Noonan Syndrome: Our Story

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I’d like to finally share something that has been on my heart and mind for the last year: the diagnosis of Noonan Syndrome that our daughter received at six months old.

What is Noonan Syndrome?

NS is a congenital disorder that was recognized by a paediatric cardiologist in the early 60s and is closely linked with certain congenital heart defects. It occurs in approx 1 out of 1000-2500 births and while most people have never heard of it, it occurs roughly as frequently as Downs. Roughly half of babies born with NS had it passed on from a parent while it develops spontaneously in the other half.

One of the most important things that we’ve learned about NS is how variable the symptoms and severity of health issues are. While some issues (like the presence of heart defects) are very closely linked to NS, every individual will present their own set of issues with varying degrees of severity. Because of this wide range, kiddos with NS are closely managed with multidisciplinary care.

How did Hennie get diagnosed?

For those who are curious about our particular family’s situation, Hennie was diagnosed with a congenital heart defect at three days old. Her paediatrician thought she heard an anomaly and sent us for an ECG and echocardiogram to confirm, hoping it was just a murmur. The cardiologist diagnosed her with Pulmonary Valve Stenosis, a heart defect that is very commonly associated with Noonan Syndrome. Because Hennie exhibited multiple other facial and physical characteristics associated with the syndrome we were referred to Medical Genetics at BC Children’s Hospital. While we waited several months for those appointments I researched NS and felt fairly certain that she had it based on what we already knew as well as some other symptoms I had noticed in pregnancy that had been tested and all fallen just outside the range of what was considered ‘normal’.

Hennie received her diagnosis at around six months old. At the same time it was ascertained that neither Tom nor I have NS and that Hennie’s case occurred spontaneously. All of the testing was done through a clinical diagnosis which means no bloodwork was done and we don’t know which “strain” of NS Hennie has (the bloodwork to confirm this is very expensive and not covered for us so we have chosen not to do it unless we need to know in order to better manage her health). Because Tom and I don’t have NS it is extremely unlikely that any subsequent children we have will have it, though our ultrasounds for upcoming baby no 2 were looked at closely by a pediatric cardiologist to make sure. We opted out of the more invasive testing for baby 2 as no soft or hard markers for any disorders were found in our 20week anatomy scan.

Why are we just talking about this now?

There are so many reasons, but here are the main ones:

I wasn’t ready. It has been way too emotional for me to think about all of this stuff until recently. Processing and managing a child’s health concerns is basically an ongoing part of life now, but for a very long time it felt too overwhelming to talk about. Despite all of the positive prognoses we’ve received, the first months of Hennie’s life were deeply traumatizing for me and greatly coloured my experience as a new mother. An extended hospital stay, tests on my colicky newborn at three days old, months of appointments and hospital visits after that finally leading to diagnoses and figuring out what it could all mean for my daughter and for our family… it has been a lot, and I only started to feel more at ease in my role as mother and advocate around Hennie’s first birthday. I have taken my time in putting my scattered thoughts into words and I’ll probably be continuing to work on it for a very long time.

I was afraid of speaking as a part of the NS community. For a long time I didn’t think it was my place to speak about being a NS parent because so far Hennie’s case has been so mild that we haven’t shared many of those other parents’ experiences. Others have had to deal with much more difficult health implications and diagnoses as well as critical, ongoing developmental issues. For a long time I have felt that while I am technically a part of the NS parent community the last thing I wanted to do was to co-opt an experience other parents were having that I clearly am not. I don’t identify as a special needs mama like some NS parents do because so far, Hennie hasn’t exhibited any special needs and we have been lucky enough to get to treat her like a “normal” toddler. We often forget she has a syndrome until an issue crops up that gives us a reason to pause and consider. But I do believe that as a fierce and vocal mama I am well positioned to be an ally to the NS community.

We weren’t sure it was our story to tell. …and to be honest I’m still not sure that it is. My worry has been that I’m making a choice on Hennie’s behalf that puts her in the position of being an advocate or spokesperson when she may not want to be in that role. When she is able to articulate her desires to us we will undoubtedly respect her decisions and comply with whatever her wishes are at the time. But for now I know too well how terrifying it can be to receive this diagnosis for your child and have no idea what it means for your family. My aim is to be an advocate for this community that has become such a permanent part of our family and to be accessible on social media to parents looking for information. It might seem surprising to non millennials (haha) but social media was actually the first place I looked when we received our diagnosis. While we were provided with plenty of access to clinical resources like medical studies and research we were given no “real-world” information about how our day-to-day lives might look. Of course I understand why that was the case, but searching through NS hashtags to find families on Instagram who were vocal about their struggles (there weren’t many!) was such a comfort to me in those very early days. Seeing even one or two families living normal (ish) lives with their little Nooneroo’s when I knew virtually nothing about how Hennie’s diagnosis would affect her gave me visual confirmation that this wasn’t a death sentence for us. That may sound morbid but no one mentioned life expectancy or quality of life to us when we sat through those appointments so we were left with some pretty big questions about the future. I still don’t know if it’s “fair” for us to talk about Hennie having NS when other families may not be as fortunate as we are to raise a Nooneroo who is (so far) so indistinguishable from a ‘normal’ kid, but admittedly I’m not really one to stay silent when an issue is close to my heart.

How do we expect this to affect Hennie’s future?

The bottom line is that there is just no way of knowing what will or won’t affect her later, so we mostly manage her care with a “wait and see” approach.

We were told when she was a baby that it’s common for the physical characteristics and facial features to become more subtle as kids grow up and we certainly have noticed that this has been true for Hennie, since it was quite obvious to us that she looked different as a newborn, but her doctors all agree that they would never think to refer her to Medical Genetics if they saw her now. Perhaps it sounds vain for us to talk about physical characteristics that don’t generally pose a health risk but any parent just wants their kid to be able to grow up feeling ‘normal,’ and we’re no exception. We know now that not having to think about your health is the biggest luxury a person can have and we hope that Hennie will be fortunate enough to grow up worrying about normal kid stuff like having cool shoes and getting Dunkaroos in her lunchbox!

As for her heart condition, at six months old her cardiologist said her PVS had gotten milder so our next cardiology appointment isn’t until she’s three years old or so. Like most individuals with NS, she will continue to be seen by cardiology until adulthood regardless of the severity of her heart condition, as a precaution.

There is a “guidebook” of sorts (a medical journal dictating Clinical Management Guidelines) and I’m part of a huge community of parents (on Facebook) whose knowledge and experience I can easily tap into whenever I have a question or concern. For now we are comfortable knowing that we have a cardiologist and a paediatrician who are familiar with our family and who we trust to give Hen the best care possible. We are also being followed by our local Infant Development Program who come to our home every 3 months for a short visit to check in on how Hennie’s development is progressing. We feel so lucky to live in a country where these things are all free for us.

What would I say to parents who have just received this diagnosis?

Knowing how much it goes against the nature of many parents to keep completely calm after receiving news that the current or future health of your child is unknown, I would never counsel another worried parent to not freak out. Some emotional processing is necessary and each family will need to navigate that period the best way they know how. BUT that’s not a place you want to stay, emotionally. After my initial panic and heartbreak I immediately sought out a small village. I was able to connect with a few other parents and immediately had the feeling that we weren’t alone in our journey. While an amazing Medical Genetics team and paediatrician are essential to galvanize yourself with information, it’s highly unlikely that any of those individuals are actually parenting a child with the same diagnosis as your own. There’s something bolstering about knowing that someone else understands your worries because they’re going through it, too.

Taking things one step/diagnosis at a time has been essential for me to manage my natural inclination toward anxiety, but I would say that it’s pretty essential to the management of NS in general. Worrying about the future has never done anyone any good and it can be an especially tough habit when faced with a variably expressed disordered like NS; there are so many uncertainties and potential minor and major risks that wondering which ones could impact your family will drive you crazy.

Here are a few things that have worked best for our family in our ongoing care for Hen, if you’re interested:

  1. Arming myself with formal medical knowledge: both my husband and I are big on academics and believe that knowledge is power, so the first thing I did was make sure that I was gaining the right kind of knowledge and not just reading about random people’s experiences. This meant that I read through a lot of medical journals, sometimes asking my two nurse besties for a little help deciphering the information I found. Knowing the basics made me feel much better and made her syndrome feel less rare and hard to deal with. Additionally, many professionals aren’t super familiar with NS and parents in more rural areas often have to explain the basics to their child’s healthcare practitioners and teachers. Becoming an advocate for your child is always important but it becomes much more important when your child isn’t in perfect health. Luckily in Vancouver we are in close proximity to BC Children’s Hospital and so far haven’t been met with this particular challenge.
  2. Deal first with all current issues: aka “one thing at a time” as I talked about above. How you deal emotionally with your child’s health issues will depend on your own parenting style and personality type, but compartmentalizing things helped me feel less overwhelmed. I do my best to focus on the biggest and most current issues before moving forward. Once we had received good news about Hen’s heart I did my best to let it go and not worry about the future until our next appointment. Easier said than done sometimes but it’s a habit worth cultivating.
  3. Being proactive about potential future issues: like I said, worrying about every future issue is not helpful, but familiarizing ourselves with the most common issues was still very important to me. Hennie has low muscle tone so I made sure we were referred to a physio who could show me how best to help her increase her core strength so she would have an easier time as her little body grows. Children with NS quite often require growth hormones after 2 yrs of age so we keep a close eye on her growth chart to watch for drastic plateaus. Eye issues are also common so I asked for a referral to a paediatric ophthalmologist the second I noticed anything unusual.
  4. It will always be a part of your story: even when the outcome seems mild and no issues are currently popping up it is always there in the back of my mind, a gaping “what if” that lives alongside all of the other what if’s that we deal with as worrisome parents. So basically, make your peace with this part of your life so you can give your little Nooneroo what every kiddo wants, just your love and attention.

If you’ve found this page because you’ve recently received a diagnosis and you’d like to chat, feel free to reach out! A great starting point for basic information can be found here: https://www.teamnoonan.org/general-information . You can email me directly through the contact info on this blog or pop over to my Instagram account and comment or Direct Message me there. I can connect you with the FB Support Group for families dealing with a Rasopathy, where you can also find a huge compilation of relevant and informative journal articles. If you’d like to check out another family living their own experience with NS go to Elisabeth Parker’s Instagram. Fun Fact: she’s the first NS mama I found after receiving our diagnosis and is a fierce advocate for NS research in the US as well as a wonderful resource and mentor to me this past year.

If you have any questions, please ask away! I’m open to receiving all forms of curiosity, concern, and of course encouragement 🙂

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