As many of you may already know from reading my story, or from my “Holistic Solutions” Facebook group, motherhood rattled my world when our first daughter was diagnosed with both a congenital heart condition and a genetic mutation called Russell Silver Syndrome (RSS).
RSS is the reason Sienna struggles with feeding and growth, and she is the reason I created these programs for moms. Given that this rare syndrome plays such an integral role in our lives, and at our dinner table, I thought I should introduce you to RSS.
What is RSS?
RSS is a form of primordial dwarfism. A rare genetic condition only affecting 1 in 75,000 to 100,000 babies.
How is RSS diagnosed?
RSS was first discovered in the 1950’s and experts are still defining the diagnostic criteria. There are several known genetic causes that account for up to 70% of diagnosed cases. Since the cause is unknown for the remaining ~30%, a set of diagnostic criteria comes into play.
A brand new study revealed the Netchine-Harbison Clinical Scoring System. It suggests a person is ‘more likely’ to have RSS if they meet at least 4 of the following 6 criteria:
- Small for gestational age or SGA in length and/or weight (born under the 3rd percentile)
- Postnatal growth failure (they do not achieve ‘catch up’ growth by age 2)
- Relative macrocephaly (larger head size for body weight/length)
- Protruding forehead at ages 1-3
- Feeding failure prior to age 2 (BMI under 14 for girls and 14.4 for boys )
- Body asymmetry
When our family ‘met’ RSS:
After months of knowing something wasn’t right, our daughter was officially diagnosed with a genetic mutation resembling RSS at the age of one. The persistent vomiting, slow weight gain, struggling to breastfeed, frequent wakings at night, excessive sweating, etc; our ‘normal’ was anything but ‘typical’, but we knew nothing different. This was a random mutation that was not passed down through my husband or myself, meaning we had the same rare odds of having another RSS affected baby. In addition to her genetic testing, Sienna also met 4 of the above criteria (SGA, postnatal growth failure, feeding failure, and mild macrocephaly).
We finally had clarity around our past struggles, but uncertainty of what her future would hold. One thing we knew for sure, our daughter would always be smaller than most of her peers unless we opted for medical intervention. Note: I’ve included a few photos throughout with Sienna and other kids close to her age (you can quickly pick her out as the littlest one).
Health concerns related to RSS:
Aside from being small in size (the average female reaches an adult height of 4’7) other health complications can arise.
- Gut motility issues –Includes reflux, delayed gastric emptying, constipation
- Metabolic challenges – Many RSS kids can be hypermetabolic meaning they require MORE calories per kilogram than their peers who are the same weight, or they seem to do better with LESS food. In either case, they must be kept lean.
- Low muscle tone and muscle mass — This is one of the reasons behind the oral-motor feeding challenges in RSS children.
- Ketonemia — With insufficient sugar available for cells to use, the body burns fat. However, RSS kids like Sienna have little fat stores and brain cells CANNOT use fat for fuel.
- Hypoglycemia — A ‘typical’ child may be able to fast for 8-12 hours, but the child with RSS uses up stored sugar within 3-4 hours! This explains why many RSS kids are a fed through the night with a surgically placed feeding tube. While she’s not a great eater, Sienna has grown well enough not to require one.
- Type 2 Diabetes — RSS children who are born SGA (see definition above) are at a much higher risk for insulin resistance and type 2 diabetes. Hence, it’s incredibly important to manage Sienna’s blood sugars and maintain a very lean physique (with a target BMI of 13-14).
- Fertility issues — Children born with low birth weight and intrauterine growth retardation (IUGR) may have smaller ovaries as well as a decreased follicles in the ovaries. They also have an increased risk of developing PCOS (polycystic ovarian syndrome).
That’s RSS in a nut shell. A complicated condition that I’ve tried to simplify here.
Looking ahead:
We were dealt a difficult hand with Sienna’s diagnosis, but I know she will be great and she will do great things. Like many RSS kids I have met, Sienna is thriving within her potential and my mission is to help other ‘little ones’ do the same. There will be many bumps along the way (I already have a few bruises from the ones we’ve hit thus far) but we will not let RSS get the best of us.
I can’t help but get all glossy-eyed when people say “Sienna was given to you for a reason”, or that they admire us for our strength and positivity. But the truth is, some days were better than others. As parents you try to be strong because you have to. You try to find a way to keep smiling for the sake of your family, and do what it takes to give your child the best shot at a healthy and happy life. You encourage your little one to dream BIG and not let 3 letters define them. As one RSS-affected teenage said, “I have RSS, but RSS doesn’t have me“. I couldn’t say it any better.
If you are interested in learning more about RSS or other growth disorders, head over to the MAGIC Foundation.
Sources: MAGIC Foundation
This article made me cry. Not out of sadness, but out of pride, admiration and love for all 4 of you. You and Keith are amazing people and wonderful parents to your two lovely girls. You embody kindness, love and strength and you will pass that down to your girls and allow them to grow up to be inspiring and courageous young women. I’m so thankful to know both of you and be able to watch as your incredible journey unfolds. ❤️
You are so sweet, Sam. I’ve been lucky to have your endless support on this journey. xo
Wonderful article, Danielle. Thank you for sharing, you are both an inspiration for parents everywhere. And what a cutie Sienna is! Hope you are keeping well.
Thank you Kaitlin 🙂
Love this article. My four old has RSS. An article like this will help me inform people of her condition. I still have to explain this diagnosis to new physicians, school nurse and teachers.
All we want as parents is to watch our children grow into fine adults, I like to think of the complications from the syndrome as hurdles. As we jump each hurdle we get stronger and more confident in our decisions.
Monica, so wonderful to hear that this post was helpful for you personally. And you are SO right. Every struggle brings more strength. As my husband and I say, we are definitely much better (and stronger) people because of our daughter. And it’s important to me that other people in our shoes see the lighter and bright side of RSS…or of any challenge in motherhood. Thanks again for the kind words:)
Hello, .
Browsing afound, and searching for new findings in the RSS síndrome I came across your story.
I have RSS síndrome, and for sure your perspective early in the life of your daughter will make a difference in her journey.
Thanks for sharing your story. My son is in the process off looking into a diagnosis for RSS, he’s 18months and has had so many appointments and tests to try and determine if he has it. Have you put your little one through hormone treatment, if so do you think it’s helping?
Experiencing the same misty eyes Samantha did:) Bryndoven and I love Sienna – totally admire what amazing parent you and Keith are!
Thanks Jer:) Hope to see you at the market soon!
Please go to facebook and find Rachel Marrero. She is 26 and lives with us. She has been dating our son. She was diagnosed with RSS at age 2. She has accomplished a lot and is a wonderful, bright woman. She has all symptoms above, but has managed everything with the help of great doctors. There is nothing she cannot do. Her vision is her only limitation. She retinitis pigments is and nystagmus. Please reach out to her or me, you will see that her future is bright!!!!
Troy Machen Misterka
Thanks for sharing your personal connection to RSS, Troy. We know that these kids can and will have a positive future. Sometimes it’s hard to see that in the early days so stories like your own remind us that ‘this too shall pass’ and everything will be fine.
This was very eye opening. I had no idea what you guys have been going through. Motherhood is a crazy ride and the fact that you have preserved thus far is truly inspirational. Thank you for sharing.
Thanks Jaclyn:) Motherhood is a rollercoaster that’s for sure – and this is just the beginning of the ride, so I’m holding on tight 😉 Hope to see you soon.
Thank you for sharing your article and educating the public on RSS. I have know doubt that your beautiful daughter Sienna will do just fine. I was born with dwarfism in a big family. My parents gave us the confidence to pursue our dreams.
Thanks for your comment. We are trying to do the same and make sure Sienna has all the confidence in the world to become who she wants to be. Wonderful to see that you have done the same.
Very touching story. I cried! My 3 year old (almost 4) just got a positive diagnosis yesterday. It was expected, but I still took it very hard. It is nice to have a diagnosis since we have struggled to figure out what was wrong since the beginning of my pregnancy. Prayers for your family!
Hi Amber – thanks for your comment:) It only took one year for us to receive a diagnosis and that was MUCH too long. I don’t know how you cope with the uncertainty for over 3 years. My goodness. It’s never easy to hear that your child has a genetic condition and that he/she isn’t going to be like other kids, but in many ways it is a relief to know that something is off and what that something is. At least we can move forward knowing what needs to be done to ensure our kids become the best and healthiest versions of themselves. At least we know that we’re not alone in this:) Whereabouts are you located Amber?
Megan,
I was in your shoes not long ago, when I felt so alone and overwhelmed by all of my daughter’s struggles. There was never a light at the end of the tunnel (or at least not one I could see). But I want you (and every other parent like us) to know that while getting the diagnosis and working through the challenges is tough, with the right frame of mind and approach it does get SO MUCH BETTER. Please PM me at info@daniellebinn.com if you’d like to chat:) xo
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