Redefining Perfect

So now that we know some of the signs and symptoms of RSS..how does it affect us? How does it affect me, as a parent…and Molly, as a toddler? How can certain symptoms affect your life?

1. Hypoglycemia

• Can cause child to wake frequently at night, past a year of age
• Can cause extreme crankiness that’s eased with feeding.
• Produces ketones in the urine
• Makes it difficult to wake up in the mornings
• Excessive Sweating

Molly had all of these (well, besides the ketones…we never tested for that). When she was about 18 months (a year ago) she suddenly started waking just about every night at 2-3AM…MOANING. I had to feed her every night at 1AM for a very long time to get her to sleep through the night.

2. Lack of interest in eating

• Enter vicious cycle. Your child has a lack of interest in eating…it makes them eat little, which causes hypoglycemia, which makes you need to feed the child more frequently.
• You have to beef up the calories of every bite. Welcome butter, sour cream, dry milk, wheat germ, peanut butter (if allergies are not present), dry-milk…and the wonderment of DuoCal ($25 a can!! TOTALLY not covered by insurance! YAY!)
• The other vicious cycle – no interest in eating, but they have to eat, so you try to get them to eat smaller meals more frequently, so they assert themselves by refusing those meals, so you have to try to supplement more…and round and round and round!

This is STILL a sticking point for us. Molly is now a little more interested in eating…but I swear her stomach is the size of a peanut. After just two chicken nuggets, she’s full (that was her lunch today). She will still drink us out of house and home with the milk, though (chocolate only, please!)!!

3. Oral Motor and Speech Delays/Fine and Gross Motor Delays

• Therapy, therapy, therapy.
• Did I mention therapy?

That’s how we’ve come to have our life affected by this. Of course, on the flip side…some of these delays are enhanced in our case by the Autism. While most RSS children grow beyond these delays to lead ‘normal’ (we really use this term loosely in our house), healthy adult lives…we’re facing a slightly more difficult hurdle.

4. Physical aspects

Currently we have little repercussions for any of this. I know for my DH he faced a myriad of issues because of his appearance (he still doesn’t believe he’s attractive)…and he fears the same for Molly. I have to hope that how we treat the (relatively) minor physical abnormalities she’s facing will help determine how she deals with them. Me, I don’t notice these so much…because she is beautiful and they are rather minor…well, except she appears frighteningly skinny

5. Precocious Puberty

Yet another thing we aren’t facing currently…she is only 2.5 *lol* I have to admit…I FEAR the day that this happens…especially since we still aren’t sure about the severity of her autism. BUT…I suppose it’s something we’ll deal with soon enough (that is TERRIFYING!!!)

Those are the key ones I can think of now. If I forgot anything please feel free to nudge me and ask…I’ll be sure to add it!!

RSS is short for Russell-Silver Sydrome. It’s also frequently referred to as Russell-Silver Dwarfism. But, the dwarfism (short stature) aspect of it isn’t a required symptom. Molly is anything but short-statured, but she has 90-95% of the other symptoms. It is almost always connected with SGA (small-gestational-age), or IUGR (intra-uterine-growth-retardation).

RSS is diagnosed by a doctor’s observation. At the moment, there is no lab test that can be run to make a conclusive diagnosis. It is a genetic disorder, but not yet tied to one specific genotype.

Some of the ’symptoms’ or ‘red flags’ for this disorder:

• Consistently low weight-for-height measurements (FTT)
• Lack of interest in eating
• Body Asymmetry (this one is seen in MOST cases)
• Inadequate ‘catch-up’ growth during first two years
• Broad forehead
• High and narrow palate
• clinodactyly
• syndactyly
• cafe-au-lait spots
• dimples in hips and shoulder blades
• scoliosis
• prominent, low set, or backward rotated ears
• Underdeveloped chin and midface
• small triangular jaw
• Abnormally large head for body size (side effect of FTT)
• Arm span less than height (short arms)
• Poor muscle tone/lack of muscle mass
• Flat-narrow feet
• Short, stubby fingers and toes
• Unusually high-pitched voice in early years
• cryptorchidism
• hypospadius
• Bluish tint to the whites of the eye
• Intestinal movement abnormalities (Reflux, delayed stomach emptying/vomiting, constipation)
• Fasting hypoglycemia
• Metabolic Acidosis
• Delay of Gross and Fine Motor Development
• Kidney abnormalities (Horshoe Kidney, Posterior urethral valves, Renal tubular acidosis, Hydronephrosis)
• Delayed bone age early on, with fast advancement later
• Late closure of anterior fontanel
• Precocious Puberty
• ADD and/or specific Learning Disabilities
• Growth Hormone Deficiency
• Absence of second premolars
• Lack of subcutaneous fat

That is a rundown of the many symptoms that can be present. Tomorrow I will go into more of what it means for a child/their family growing up with RSS. How some of the symptoms can affect your life (night sweats, LD’s)…and how some are just purely physical manifestations that don’t affect your life.