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.
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