My Son and FG Syndrome

I can't count how many times doctors have asked what my son's official diagnosis was and the confused looks I have seen when I answer "FG Syndrome." FG, also called Opitz-Kaveggia syndrome, is a genetic condition linked to the X chromosome. This means that children born with FG have inherited it from their mother's side. This condition is predominant in males, as females are generally the carriers; however, there are a few documented cases of females being diagnosed with FG Syndrome, although this is rare. When my son, Justin, was 8, he was misdiagnosed as having a condition known as Asperger's Syndrome. As he developed and I spent time studying Asperger's I realized, he didn't have it. I then sought a second opinion from a geneticist in Augusta, GA. Finally, after tons of tests, I was told he had a rare genetic disorder known as FG Syndrome. Well, no wonder medication wasn't working. He was being treated for things he did not even have. With this new diagnosis in hand, I hit the internet, trying to find as much information as I could about this condition. First, lets look into Justin's early years to give you a sense of what we were dealing with.

Justin was born in 1996, a healthy 9lb 1 oz. bouncing baby boy. He was my first child and of course I was smitten from the first time I laid eyes on my precious baby. As he grew, I noticed some physical delays. He didn't sit up or roll over when other babies would be. I didn't think anything was wrong at this point, just figured he was a little behind others and kept working with him day in and day out. His pediatrician was also working with him and was a little concerned at his weak muscle tone. At nine months old, the doctor sent my son to a neurologist because he had been exhibiting a new behavior. His eyes would roll into the back of his head and shake uncontrollably, a condition known as congenital nystagnus. At this point we suspected seizure disorder although he had never had a seizure with the physical symptoms one would commonly look for. The testing went off without a hitch and I was told there was no sign of seizure disorder or brain abnormalities.

Soon, it was time for Justin to learn to talk and walk. Again, he didn't meet standards set by other children in his age group. His weak muscle tone prevented him from taking those cherished first steps at the age of one. Instead of uttering his first words, he would simply point and grunt. Now I was more concerned than before. Still, doctors could not find out what in the world was wrong and I stepped up efforts to help Justin talk and walk. Two long awaited feats that finally came to fruition when he was two years old. I was worried, frustrated and begging for someone somewhere to help me find the answers to my son's delays. Soon, his younger brother came along and Justin detached himself from the big brother role. He didn't want anything to do with the new baby and often acted scared of him. Still, Justin was so loveable to me and older family members. He was laid back but refused to socialize in daycare. Years go by with still no answers. A geneticist in Chattanooga, TN said she thought he had Asperger's Syndrome and created a solid diagnosis after only one visit. Around 2006, Justin had his first of many melt downs and was found to have hearing problems due to enlarged adenoids and tonsils. These were removed and he was hospitalized after an incident in which he threw a major fit, cussed me out and pulled me to the ground while kicking me the day after I had gotten home from minor surgery. He spent two weeks in a mental hospital trying to iron out this unexpected behavior. Justin was 10. The Asperger's diagnosis made less and less sense by this time.

Here's where things get hectic. Justin was placed on medications to control his outbursts, depression and ADHD tendencies that mental health doctors claimed he had. He was sent home but the melt downs continued for three years. He was admitted to this hospital a total of six times for evaluation and medicine changes. I was advised to apply for SSI benefits for him because doctors said he would never be able to work or even live on his own. I was devastated. In 2009 we moved to Augusta, GA, where my husband is from. He was hospitalized yet again down there. This was different though. The doctor at MCG recommended a geneticist within the hospital that could help because he didn't believe the Asperger's diagnosis either. This geneticist looked at Justin's medical history and called us in for a meeting. "Your son has a rare condition known as FG Syndrome." he said as he handed me a pamphlet of information. He expressed his desire to do further blood testing to find out the extent of the condition. Blood testing proved the diagnosis and he was soon approved for SSI benefits. The schools were harder to work with because special education teachers were simply not familiar with his condition and his melt downs often resulted in suspensions and ISS. I finally started homeschooling Justin out of frustration.

By this time, Justin was on seven different medications and resembled a walking pharmacy. He often hallucinated, scaring me and his stepfather. His real dad was not in the picture so I had to rely on my new husband to help me control Justin and console him when he hallucinated. He would see black cats in our Christmas tree that were not there, talk to people when no one was in the room and even tried to poke his eye out with a pencil because he said that a fish told him to do it. After consulting the doctor, I found out this was side effect of his medications and I offered a solution that was a little unorthodox in the medical field. We took him off all medications, period. In two weeks he was doing better and the hallucinations were gone. Melt down frequency decreased and he started to return to his former loving self.

Justin is mentally and physically delayed. He is now 15 and is just starting to hit puberty and go through a voice change. His mind is that of a seven year old, but he makes friends now wherever he goes. The social delays have ironed themselves out. He still have melt downs but maybe twice a year rather than daily as he used to. The severity of these melt downs is not nearly as bad as they used to be. I have spent years fighting to get him the help he needs in school and through his doctors, especially since we have moved back to North Georgia. Armed with information from the FG Syndrome Family Alliance, his teacher and myself have managed to come up with an IEP plan that has performed wonders for him. He is happy, healthy and just enjoys being a kid. Yes, its possible he will not work or live alone, but every day I have with him is a joy. FG children often live long, productive lives and I got lucky. Many have digestive problems that are a cause for major concern but Justin dodged that one symptom. His speech is improving and he is making good grades, while maintaining a social circle to rival the most popular quarterback in school. He manages to wrap everyone he meets around his little finger.

For parents going through the same things I went through, my advice would be to keep pushing. Don't take no for an answer and if you feel your child has been misdiagnosed, seek out a second or third opinion. We are our children's biggest advocates and they rely on us to take care of them and do what we can to keep them healthy and find the exact educational tools they need to overcome their disabilities. Learn all you can about your child's condition and remember, if a treatment option makes you uncomfortable, learn all you can about it. In the end, you are the final decision maker as to what treatments your child undergoes.