Nathan & Russell Silver Syndrome

For several years it was thought that Nathan had RSS, but that diagnosis has actually been taken away.  Now they feel there is something genetically wrong but do not know what anymore.

RUSSELL SILVER SYNDROME

Silver–Russell dwarfism, also called Silver–Russell syndrome (SRS) or Russell–Silver syndrome (RSS) is a growth disorder occurring in approximately 1/50,000 to 1/100,000 births. In the United States it is usually referred to as Russell–Silver syndrome, and Silver–Russell syndrome elsewhere. It is one of 200 types of dwarfism and one of five types of primordial dwarfism and is one of the few forms that is considered treatable in some cases.

Although confirmation of a specific genetic marker is in a significant number of individuals, there are no tests to clearly determine if this is what a person has. As a 'syndrome' a diagnosis is typically given for children upon confirmation of the presence of several 'symptoms' listed below. Symptoms are Intrauterine Growth Restriction (IUGR) combined with some of the following:

• Often small for gestational age (SGA) at birth (birth weight less than 2.8 kg)
• Feeding problems: the baby is uninterested in feeding and takes only small amounts with difficulty
• Hypoglycemia
• Excessive sweating as a baby, especially at night, and a greyness or pallor of the skin. This may be a symptom of hypoglycemia
• Triangular shaped face with a small jaw and a pointed chin that tends to lessen slightly with age. The mouth tends to curve down
• A blue tinge to the whites of the eyes in younger children
• Head circumference may be of normal size and disproportionate to a small body size
• Wide and late-closing fontanelle
• Clinodactyly
• Body asymmetry: one side of the body grows more slowly than the other
• Continued poor growth with no "catch up" into the normal centile lines on growth chart
• Precocious puberty (occasionally)
• Low muscle tone
• Gastroesophageal reflux disease
• A striking lack of subcutaneous fat
• Late closing of the opening between the heart hemispheres
• Constipation (sometimes severe)

The caloric intake of children with RSS must be carefully controlled in order to provide the best opportunity for growth.^[4] If the child is unable to tolerate oral feeding, then enteral feeding may be used, such as the percutaneous endoscopic gastrostomy.

In children with limb-length differences or scoliosis, physiotherapy can alleviate the problems caused by these symptoms. In more severe cases, surgery to lengthen limbs may be required. To prevent aggravating posture difficulties children with leg length differences may require a raise in their shoe.

Growth hormone therapy is often prescribed as part of the treatment of RSS. The hormones are given by injection typically daily from the age of 2 years old through teenage years. It may be effective even when the patient does not have a growth hormone deficiency. Growth hormone therapy has been shown to increase the rate of growth in patients and consequently prompts 'catch up' growth. This may enable the child to begin their education at a normal height, improving their self-esteem and interaction with other children. The effect of growth hormone therapy on mature and final height is as yet uncertain. There are some theories suggesting that the therapy also assists with muscular development and managing hypoglycemia.

Nathan's Issues:

Medical Issues that we have dealt with and that we are currently dealing with: At the age of 7 years old (2014) and 28-30 lbs (depending on the scale) and 3 foot 4 inches (103 cm/40.6 in)…..In Nathan’s short little life, he had been diagnosed with the following: 2 Vessel Umbilical Cord, Low Birth Weight, Hypospadious, Natural Circumcision, Hyperbilirubinemia, Soft Cleft Palate/High Palate, Aortic Septal Defect (healed itself), Feeding Issues, Torticollis, Webbing of the fingers, Hydrocephalus, Bifid Uvula, Dandy Walker Variant (Missing Vermis in his cerebellum), Polymicrogyria (another brain malformation, meaning many folds, DR says the front of his brain looks like a bunch of grapes on MRI), Flat Feet, Tone Issues, Undescended Testicles, Russell-Silver Syndrome (a type of Primordial Dwarfism/growth disorder), Human Growth Hormone Deficiency, Scoliosis, Failure to Thrive, Apraxia of Speech, Non-Verbal, Seizures (when sick), Hearing Loss in both ears, Velopharyngeal Insufficiency (VPI), Migraines, Asthma, Allergies and Autism.  Broken Nose (2013) .. G-Tube placed (2014), Scarlet Fever (Aug 2014), Severe Septic Shock/Kidney Failure (May 2015)... 

In 2016 Nathan's diagnosis of Russell Silver Syndrome was taken away.  He is currently and ongoingly going through extensive chromosome and genetic testing in hopes to give us a solid diagnosis.  We have no "umbrella" diagnosis now but his Genetics doc is certain there is some sort of chromosome abnormality. 
Age 9: weight is 45-47 lbs & 3 ft. 9 inches. 
Age 10: 49lbs & 3ft 11inch

Awareness Graphics I made for Awareness of Nathan & some of his friends!!

Some other graphics I made with permission of their parents, Russell Silver Syndrome Awareness

(Work In Progress)