Noonan Syndrome: Our Story


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: . 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 🙂

We Moved!





Big news in the Procter family: we bought a house!

It’s actually a condo not a whole house but it’s no less impressive in the context of the Lower Mainland’s current real estate market (for our family across the pond, things are roughly comparable to London). So I guess we could also say we bought a flat 😉

So far we are loving our new city and our new neighbourhood. We bought in a central location near a river because we prefer to be in a walkable area with access to gorgeous views and lots of different shops (read: types of food). Our new ‘hood has train tracks, tugboats, bridges, and a heck of a lot of steep hills; my buns were burnin’ after a short stroller walk on moving day (and Hennie’s only getting heavier!).

It’s only been a week in our new home but we are settling in well, unpacking, and making some plans for future projects (painting! renovations! adult stuff!). Since having Hennie in her own room I feel like we’ve gotten our lives back. The one-bedroom apartment we just moved out of was spacious, bright, and lovely, but our Hen is a very sensitive sleeper who wakes to seemingly innocuous sounds despite the white noise we put on to drown out general tomfoolery (see what I did there?). Cooking dinner or washing dishes in the evening often woke her up and reading in bed with a small light on was absolutely out of the question. In our new place we can actually talk to each other after she goes to bed at 6:30 (a game changer for our marriage?) and at long last I can read in bed again, a favourite past time that I’ve been missing for ten months.

With our proximity to the riverfront, new parks to explore, and of course a brewery, hopefully we won’t be missing Vancouver anytime soon.

Travels with Hen: UK Edition

Our recent family trip to Yorkshire was a little stressful, a lot of fun, and a major learning curve for two new parents who will have to troubleshoot Kiddo Jet Lag many times in the future. I spent a lot of time worrying about the 9 hour flight, not knowing that the 8 hour time difference would actually be the bigger problem. It took over a week of sleepless nights and sleeping-all-day for all three of us to successfully transition to the new timezone. We enjoyed a few blissful days on the new schedule before having to fly home. Luckily, Tom didn’t seem to mind playing with his daughter in a nice quiet house in the middle of the night, and Grandma P didn’t seem to mind making us breakfast in the late afternoon when we woke up for the day!

The first week of our trip we lounged around at home with family – all of us were under one roof for the first time since Christmas 2014 so we had a lot of catching up to do! The second week was much busier – a wedding, Tom’s 30th birthday, and visits with friends and extended family.

Highlights of our trip included:

  • getting to see Hennie spend time with her English grandparents
  • country pub dates with siblings
  • surviving our first outing (sort of) without Hen
  • the majestic Bennett wedding
  • Tom’s 30th Birthday BBQ
  • playing tourist in cute little towns like Harrogate and Ilkley

Big thank you to all who hosted and housed us over the course of our trip, it was lovely to see everyone and we’re looking forward to traveling more with a baby now that we know we can survive it!

Travels with Hen: Road Trip Edition


In July we drove through the Okanagan Valley to stay in Rossland, BC for two weeks. Rossland is a little mountain town where Tom’s company is based and where the company’s annual summer conference is held. Despite my worries about the 37 degree forecast (how do you even keep a baby cool in that weather?) we had such a fantastic time relaxing and enjoying small-town life.

“Mountain Hennie” thrived on the road! She did amazingly well on a 10+ hour road trip, slept through the night multiple times in her (dark, air-conditioned) bedroom, and even napped longer than she normally does at home. It’s almost enough to make her parents wanna move to a big house in a small mountain town! We stayed in a house the first week but a hotel room the second – guess which is easier with a baby? Luckily, the hotel obliged our request for a room close to the conference room, lobby, and hotel bar, so our baby monitor offered me some freedom while she was napping during the day and sleeping during the evening.

Hennie had a lot of first experiences while visiting Rossland!

  • first time at the pool (big hit)
  • first time trying frozen yogurt (even bigger hit!)
  • first time seeing cats (very apprehensive and distrusting)
  • first time having pizza (she grabbed mama’s slice and had a full bite before anyone could stop her)
  • first time clapping her hands
  • first time going to a lake

I think we’ll always have fond memories of this first big trip with Hennie, especially considering we had our offer accepted for our first home purchase while staying in Rossland. It was a relaxing, slow-paced time with an exciting twist!

Six Weeks Old

Hennie James is six weeks old, which means we’re halfway to a major milestone – the end of the fourth trimester and (hopefully) the end of these colicky days. Having a baby has been a crazy, emotional ride so far but we love seeing Hen become more alert and interactive already.

While Tom was away in Whistler for a work conference, Hen and I stayed at Omie (grandma)’s house for extra help and snuggles. During that week Hennie’s second cousin was born! Hennie and Baby Greyson will be almost exactly a month apart in age and we can’t wait to watch them grow and play together. It has been snowy and cold in Vancouver these past couple weeks (the first time in a long time!) and we are enjoying staying home and staying warm.

The First Two Weeks

Thought I’d take a moment to write an update on the first two weeks of life with Hennie James – probably a brief update as she is stirring from her short slumber beside me and doesn’t like to give her mama and papa much time to do anything these days 🙂

Our little HenBaby has her daddy’s long limbs and insatiable appetite. Unfortunately, she doesn’t have her daddy’s easy disposition but her mama’s sassy attitude and big voice; Hennie has so far been a difficult, colicky baby. She isn’t soothed easily or for long, she needs to be held almost all the time, and she cries bloody murder from about 11pm to 7am (srsly kid?), as well as sometimes during daytime hours as well. We are experimenting with some gas-relieving tactics, some bouncy chairs and rockers, attempting to get her to come around to a pacifier, and basically trying anything we can think of to see if she likes it. Every day it seems she likes or dislikes something new that used to work and is really keeping us on our toes. Some nights Tom does laps around our kitchen island for 6 hours bouncing and shushing her because she won’t be put down – at least we are meeting the daily step goals on our FitBits!

That said, we know that this crazy newborn phase won’t last forever and are doing our best to adjust and readjust our expectations of parenthood daily while appreciating her short stints of sleepiness. We are staying positive and approaching every day as a team, and trying to give her the coziest, safest environment possible.

Tom is now back to work, some days at home and some days in the downtown office. My goal right now is to get outside at least once every day, whether by myself or with Hennie. We have enjoyed some walks to nearby parks in East Van as well as lots of visits to the corner coffee shop! Thanks, JJBean, for fuelling this mama’s mornings!

Trimester Overview

Since we’re nearing the end of this little gal’s time in utero I thought I would take a moment to document the journey in terms of the symptoms I experienced. This way if there’s a “next time” (I can hear my mom saying “IF?!” already), I’ll know what to expect from my body without having to read What to Expect.


At 12 weeks: I thought it was SO obvious that I was pregnant, HA. At 25 weeks: wondering how much bigger I’d get over the next 15 weeks. At 38 weeks: happy to be nearing my due date!

The First Trimester

Throughout the first trimester I worked as a server so I clocked some serious on-my-feet mileage despite experiencing a fatigue like I’ve never known before. This could be due in part to a later discovery that I was very low in iron, or perhaps to the fact that I had given up coffee. I had some mild nausea in the mornings but it was usually abated by eating something good and carb-y, so I happily rekindled an old friendship with bagels that I had broken away from years ago. In fact, the whole first trimester was a time of constant and glorious hunger, usually including 1-2 midnight snacks from my bedside table. Despite this, my weight gain was slight and infrequent. From the very beginning of my pregnancy I suffered my fate as a small-bladdered woman, getting up to pee 2-3 times per night on average.  My must-haves during this time were Cheerios (the fastest breakfast I could muster when I woke up ravenous) and healthy takeout that I didn’t have to cook myself or feel guilty about (I think we kept the Lebanese place around the corner in business). I fell asleep reading Sherlock Holmes stories every single night, usually around 7pm. We bought a pregnancy pillow on sale after hearing what a “must buy” item they are, but it turned out to be a “don’t need” item for me and I still haven’t used it.

The Second Trimester

At the beginning of the second trimester I hung up my serving apron for good after 13 years as a waitress and spent some time off work when the in-laws visited Vancouver from England! My energy returned tenfold and I was able to bake and cook a lot again (no more aversions to raw chicken!) and take myself for daily walks around the seawall, usually 1-4 hours long. I reintroduced my morning iced coffee as well, but went for a half-caff brew instead of full strength. I still woke up 1-2 times per night but started sleeping in a little longer because my body wasn’t waking me up from hunger. I “popped” at 18 weeks, suddenly looking pregnant after seeing no belly for over 4 months, and then rapidly put on weight until around week 28. My must-haves during this time were my two pairs of maternity shorts, Ina May’s “Guide to Childbirth”, and multiple crochet projects. The second trimester was definitely the most comfortable and the sunniest and for both of those reasons it was my favourite! I’ll always look back fondly on those long summer walks around the city, day-dreaming of the babe I was to meet.

The Third Trimester

In the third trimester I started working again, this time from home. The baby’s movements ramped up a lot and made evenings in bed my new favourite time because she was most active then. I started doing prenatal exercise videos in my living room a couple times a week to get some low-impact cardio in and kept walking a lot until week 37 when I slowed down to about a half hour per day. My weight gain slowed down a lot compared to the months previous and I felt relatively comfortable (and super lucky about that!) right up until week 37. I started noticing swollen ankles at week 35 and made an effort to put my feet up for an hour or two during the day. Braxton Hicks contractions started sporadically shortly after 30 weeks and ramped up more and more over time – not feeling painful, just tight. My night time bathroom breaks became more frequent at about 4-5 times/night, or roughly every two hours. I was able to wear a lot of my non-maternity shirts and dresses until about 38 weeks pregnant, when I realized I would likely have to wear the same two sweaters from Tom’s side of the closet for the remainder of my pregnancy. I started feeling very occasional pains halfway through week 37 but at almost 40 weeks still haven’t felt too much to hint that the end is near.

What Surprised Me

I think I’m the most surprised that I enjoyed pregnancy as much as I did because I’ve always thought I wouldn’t, though I’m not sure what I was basing that assumption on. While the list of symptoms in the front of my What to Expect When You’re Expecting book was extensive and frightening, I realized quickly that these are only possible symptoms, and thankfully not every pregnant woman experiences all of them. That said, I was quite surprised by how pregnancy can affect so many other parts of your body that you wouldn’t think would be impacted, like your gums (sensitive!), nails (amazing), and skin (even my moles changed!). The effects of hormones are far-reaching! Speaking of hormones, another surprise is that I haven’t felt at all like the hormonal “crazy” pregnant woman stereotype; while I haven’t been immune to the worries and anxieties of approaching parenthood, I haven’t cried or felt overwhelmed… guess I’m saving that for post-partum.



Canadian Thanksgiving is one of my favourite holidays every year – what could be better than celebrating the health, family, and friends we’re blessed with by eating homemade feasts and basking in the crisp sunshine of an October long weekend? This year October feels especially lovely for me, as a November 4th due date means that this is also my ninth month of pregnancy and Thanksgiving is the last holiday we’ll share with the family before this baby makes her grand entrance (Halloween doesn’t count). It already feels like October is a month of anticipatory energy, of preparation and nesting, and of getting ready to hunker down for the winter with a newborn.

Thanksgiving weekend was equal parts slow and restful and chaotic and loud. We had downtime to go to the track after dinner, do hours of laundry at my moms, and chat with grandparents, but we also had time to catch up with a large (and growing!) extended family to share recipes, crack beers, and stuff our faces in general. But the best part of the weekend for me was realizing that wherever we go my silly, patient, imaginative husband is enthusiastically appreciated by children. Despite how easy it is to ignore kids (let’s be honest, they can be annoying), he remains un-phased when they use his iPhone, make him play the same game over and over again, feed him weird things, drag him into the teepee in the living room, or repeatedly wipe their boogers on his shirt (that last one courtesy of Amelia, photographic evidence above). Tom, I’m so thankful that your patience with me extends to everyone else as well, and that our daughter will always have an example of an adult who is intelligent, inquisitive, and immature.

Now where are those leftovers!?

A Shower for Baby Procter

We had our baby shower this weekend and it was wonderful to spend some time with family and friends celebrating the baby we’re so eager to meet! Having so many people I love in one room was overwhelming in the best way possible. I’ve found that there is an abundance of encouragement, wisdom, and experience to be gained from the women/parents in our lives, from sharing regretful or hilarious parenting moments to a favourite brand of swaddle blankets or a cherished book, and I felt very tapped in to the network of moms, aunts, grandmas, cousins, and friends who have already “been there” or are currently there.

We have avoided buying any baby things since we found out the news (not easy for an expectant mama!), and it made receiving so many thoughtful, practical, handmade, and downright adorable gifts from those who love us (and her!) even more exciting. We were truly blown away by everyone’s generosity – thank you to all!

Fun Fact: this morning I did a little research about the origins of baby showers, and found that they are quite uncommon in the UK. Instead (according to Wikipedia) of celebrating a forthcoming baby by “showering” the mum-to-be with gifts and advice as we do in North America, Brits “wet the baby’s head,” by taking a new Dad to the pub for pints when his baby is born. Two very different (and very gender-cliche) customs! I think our little family will have to do both 🙂

*all photo credit goes to two of my aunties who saved the day by documenting all of the best and cutest moments! Thank you both!