Russel Silver Syndrome

Being pregnant for a second time for the last half of 2016 into 2017 was an adventure for me due to how my baby was not growing correctly. Having to leave so many hours away from home to San Fransico, CA to go to doctor appointments, finding out that my child is in danger of being born prematurely. My son was due to be held on February 11th, 2017. But then, one day on January 18th, 2017, I was in San Rafel, CA, to have a special ultrasound done, and my husband and I were told that our son was ready to come.

Both of us were scared we were told to go straight for the big city. Going to a comfortable town, but it was the only chance for our son to be born. Joshua was born on January 20th, 2017, at 8:58 am. The doctors at UCSF Benioff Children Hospital tried to do an emergency c section due to a heartbeat loss. Still, after removing specific monitors, we got his heartbeat back! My husband was able to join me when they did the regular C section, and he arrived. Three pounds and 12 ounces. Such a small baby! He went to a NICU unit called " The Green Unit." After two weeks, he was sent to a " Purple Unit." After three weeks of being there, he was able to come home with us.

Many months of wondering why Joshua was gaining weight SLOWLY. In September 2017, we had to bring him back to get blood work done. In December, a genetic specialist called us and told us he had a congenital syndrome called " Russel Silver Syndrome."

Russel Silver Syndrome is a rare disorder characterized by intrauterine growth restriction (IUGR), low growth after birth, a relatively large head size, a triangular facial appearance, a prominent forehead (looking from the side of the face), body asymmetry, and significant feeding difficulties.

The symptoms of RSS vary significantly from one individual to another. Some are mildly affected; others may have serious complications. The wide range of potential features can affect many different parts of the body. It is important to note that affected individuals will not have all of the symptoms discussed below. Affected individuals/ parents should talk to their physician and medical team about their specific case, associated symptoms, and overall prognosis. With appropriate medical care, most individuals with RSS will live full, productive lives.

Growth and puberty: Almost all infants with RSS have a birth weight well below the 3rd percentile (<-2SD) even at full term. After birth, the value often continues to fall farther away from the normal range. Parents often report poor appetite (some children never cry for food), and the struggle to get an RSS child to gain weight is one of their main concerns. Special care is required to ensure adequate feeding and caloric intake.

Birth length is usually also below the 3rd percentile (<-2SD), but not always. Growth velocity for length/height continues to be slower than average throughout infancy and childhood, with no 'catch-up' growth. The majority of RSS children are not growth hormone deficient. Research has found that their response to growth hormone therapy does not differ statistically between those who are short from those that are not.

Most RSS children have a delayed bone age in early childhood. But it is important to note that the delayed bone age of RSS children is not typical of constitutional growth delay in that the delayed bone age is not predictive of a late growing period. Instead, RSS children typically experience a rapid acceleration of their bone age, often around age 8-9, and their bone age then becomes advanced.

So, in the end, Joshua will gain weight on his; curve. He has been mistaken as his baby sister's twin. But he is growing on his own, and his person. Russel Silver Syndrome is real, and if a little one has one, you can help your child! Joshua has the choice to take him down to San Fransico and have him take growth hormone shots if he wants to. Which can help him with his growth in the end.