{"id":663,"date":"2015-07-15T03:09:43","date_gmt":"2015-07-15T03:09:43","guid":{"rendered":"http:\/\/www.daniellebinns.com\/stagingsite\/?p=663"},"modified":"2015-08-03T14:12:45","modified_gmt":"2015-08-03T14:12:45","slug":"russell-silver-syndrome","status":"publish","type":"post","link":"https:\/\/www.daniellebinns.com\/stagingsite\/2015\/07\/russell-silver-syndrome\/","title":{"rendered":"Russell-Silver Syndrome: Why my “little one” is so little"},"content":{"rendered":"

As many of you may already know from\u00a0reading my story<\/a>, or\u00a0from my “Holistic Solutions” Facebook group<\/a>, motherhood\u00a0rattled my world when our first daughter was diagnosed with both a congenital heart condition and a genetic\u00a0mutation\u00a0called\u00a0Russell Silver Syndrome (RSS)<\/strong>.<\/a><\/p>\n

RSS is the reason Sienna struggles with feeding and growth, and she is the reason I created these programs for moms<\/a>.\u00a0 Given that this rare syndrome plays such an integral role in our lives,\u00a0and at our dinner table,\u00a0I thought I should introduce\u00a0you to RSS.<\/p>\n

\"FullSizeRender.jpg-9\"<\/a><\/p>\n

What is RSS?<\/h2>\n

RSS is a form of primordial dwarfism.\u00a0A\u00a0rare genetic condition only affecting\u00a01 in 75,000 to 100,000\u00a0babies.<\/p>\n

How is RSS diagnosed?<\/h2>\n

RSS was first discovered in the 1950’s and experts are still defining\u00a0the diagnostic criteria.\u00a0 There are several known genetic causes that account for up to 70% of diagnosed cases. \u00a0Since the cause is unknown for the remaining ~30%,\u00a0a set of\u00a0diagnostic criteria comes into play.\u00a0\u00a0\u00a0<\/span><\/p>\n

A brand new study revealed the Netchine-Harbison Clinical Scoring System.<\/a>\u00a0 It suggests a person is ‘more likely’ to have RSS if they meet at least 4 of the following 6\u00a0criteria:<\/p>\n

    \n
  1. Small for gestational age\u00a0or SGA\u00a0in length and\/or weight (born under the 3rd percentile)<\/li>\n
  2. Postnatal growth failure (they do not achieve \u2018catch up\u2019 growth by age 2)<\/li>\n
  3. Relative macrocephaly (larger head size for body weight\/length)<\/li>\n
  4. Protruding forehead at ages 1-3<\/li>\n
  5. Feeding failure prior to age 2 (BMI\u00a0under 14 for girls and 14.4 for boys )<\/li>\n
  6. Body asymmetry<\/li>\n<\/ol>\n

    \"Daddy<\/p>\n

    When our family ‘met’ RSS:<\/h2>\n

    After months of knowing something<\/em> wasn’t right, our daughter was officially diagnosed with a genetic mutation resembling RSS at the age of one.\u00a0 The persistent vomiting, slow weight gain,\u00a0struggling to breastfeed, frequent wakings at night, excessive sweating, etc; our ‘normal’\u00a0was anything but ‘typical’, but we knew nothing different.\u00a0 This was a random\u00a0<\/strong>mutation that\u00a0was not passed down through my husband or myself, meaning we had the same rare odds of having another\u00a0RSS affected\u00a0baby.\u00a0\u00a0In addition to her genetic testing, Sienna also met 4 of the above criteria\u00a0(SGA, postnatal growth failure, feeding failure, and mild macrocephaly).<\/p>\n

    We finally had clarity around\u00a0our past struggles<\/a>, but uncertainty of what her future would hold.\u00a0 One thing we knew for sure, our daughter would always be smaller than most of her peers unless we\u00a0opted for medical intervention.\u00a0 Note: I’ve included a few photos\u00a0throughout with\u00a0Sienna and\u00a0other kids close to her age (you can quickly pick her out as the littlest one).<\/p>\n

    \"Sienna<\/h2>\n

    Health concerns related to RSS:<\/h2>\n

    Aside from being small in size (the average female reaches an adult height of 4’7) other health complications can arise.<\/p>\n