Mystery Diagnosis

OWN Network – Mystery Diagnosis – A Family’s Desperate Search : Case of Ricky Getch – RSS, Russell Silver Syndrome

 

Ricky Getch couldn’t have asked for better parents! Early in his life he was struggling with a rare disorder that stopped him from growing. Despite the inaccurate diagnosis from multiple doctors, Ricky’s family forged ahead and found their answers. Here are a list of some of his personal symptoms and a brief version of the path his family took to get a final diagnosis.

Some of the symptoms he showed over time:

  • In 1991 when Ricky was born, he had not gained a lot of weight and had difficulty latching on to eat. However, that isn’t uncommon for newborns.- Pediatrician told the parents their baby was healthy and not to worry.
  • Ricky continued to be small and wasn’t growing a lot. – Pediatrician believed he was healthy and would start growing and that he was just petite.
  • At 2 months old, he started gurgling on mucus and struggled to breath. The family drove to the hospital where a breathing treatment was given.- Doctor believed he had bronchiolitis and was sent home with antibiotics.
  • Every 3 weeks, Ricky continued to have repeat episodes over the next 8 months. He was just getting sicker, was not growing and still had non appetite.
  • At 13 months, he only weighed 16 lbs, far from normal.- The doctor felt he had been sick and that is what accounted for the weight. At that point, the mom found another pediatrician.
  • The next pediatrician felt Ricky was showing symptoms of Cystic Fibrosis. He was just under 2 years old at this point. He was only 18 lbs. Scared, the family took a blood test and waited. It was negative; he did not have Cystic Fibrosis.
  • Ricky still had no appetite and never even asked for food. He even cried when they tried to feed him more than a few bites. The mom decides she was going to demand the doctor do something!- The doctor labels Ricky as failure to thrive. Ricky’s mom knew there was more to it so she headed to see specialists.
  • Over 2 years of going to different specialists, no doctor could explain. She was told to just wait, but she was worried that she was running out of time.
  • As Ricky entered kindergarten, his parents felt badly for him. His mother then found Dr. John S. Parks, MD PhD, a Pediatric Endocrinologist. Ricky was now 6 ½ years old about the size of an average 3 year old.
  • Dr. Parks recognized that Ricky was thin, but had a normal head with a smaller chin. He then ran a test to discover that Ricky had RSS, Russell Silver Syndrome.  

Final Diagnosis:

  • RSS- Russell Silver Syndrome- every person has genes that control cells multiplication and control growth. Ricky’s genes turn off stunting his growth.

 What is ahead for him:

  • This is not a death sentence by any means.
  • Hormone supplements were given to Ricky and in about 4 days he was hungry for the first time in his life.
  • Around 4th grade he was no longer the shortest kid and was even taller than the bully who had teased him. By 18 years old, he stood 5’8”. A measure far beyond his family’s hopes.

Ricky was lucky in many ways. His parents refused to settle for the repeated diagnosis from multiple doctors and they NEVER gave up on him. Since his family discovered the issue while Ricky was still young, the growth hormones were able to save him from a lifetime of feeling out of place. Today Ricky leads a healthy and happy life.

2 thoughts on “OWN Network – Mystery Diagnosis – A Family’s Desperate Search : Case of Ricky Getch – RSS, Russell Silver Syndrome

  1. Woke up to this program a couple nights ago and thought you might be interested in it. I am not implying that Jack has this, but there are some commonalities. You may have even already ruled this out. Interesting to say the least.

  2. This was aired last night. I missed half of it and tried very hard to find this Dr. my son who is 11 yrs. old have similar characteristics. I am planning to make an appointment to see this Dr. Thanks for sharing this…

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