My story of sexual dysfunction begins when I was only 21. It was at this time that I lost the ability to feel pleasure during intercourse. This was something that had always felt extremely pleasurable to me before so I was confused and afraid. I went to my doctor and complained but he just laughed and said that "women don't need to feel pleasure during intercourse". According to him, it wasn't important because there are 'other things they can do and most women don't climax that way anyway". "Don't worry", he said. "You're normal". And then he left the room. I was stunned. This would mark the beginning of a long search for answers.
It would come when I was watching an episode of "Mystery Diagnosis" on tv, two months after I had lost my job and health insurance in 2008. There was a story about a little girl who suffered from horrible bouts of diarrhea. "Poor kid", I thought. I knew how it was to feel sick all the time. Something told me to listen very closely to what was said next, and when I heard that she developed cataracts when she was only 10 years old, I felt like someone turned on a light. I had also had cataracts when I was young and I wondered how on earth those two symptoms could be connected. I listened to her story and learned about genetic, metabolic disorders and how they can cause all sorts of symptoms. Then I made an appointment for my teenage son, who had also been sick, to see an excellent specialist in genetics and neurodevelopment, Dr Luis Escobar. When his test results came back, I was right. He had a rare genetic metabolic disorder. It is an enzyme disorder called acylcarnitine deficiency. It means that the body lacks the enzyme to help convert fat into energy. It affects the muscles, heart, and brain. It can cause many symptoms such as diarrhea, vomiting, exhaustion, vision problems, and yes, sexual dysfunction. There is a wealth of information about this disease on the internet and I would advise anyone who suffers from unexplained symptoms to research genetic disorders. I also had my mother tested because I was sure she had it since she had been sick many times during my lifetime. She was also diagnosed at 83! This proves you can have an illness like this and go your whole life without a diagnosis. In fact, sometimes this disease isn't discovered until performing an autopsy, where it is evident in the heart muscle. So I had my answers.
I myself was just tested last week. I finally got some financial help for the testing. I get my results this week. And NORD, The National Organization for Rare Disorders, is sending my medicine. Yes, there is treatment for this disease. I hope and pray that once my body gets the medicine it needs to be able to function normally, I'll get my sex life back. Dr. Luis Escobar, who diagnosed my son, said that it takes about 6 months to a year for the body to really begin to respond to the prescribed treatment.
Its sad that so many women who have a loss of vaginal or clitoral sensation have to go for so long without compassion and medical help. Even though we are different from men, I believe the the quality of care should still be the same. So now I tell my story wherever I can. The media isn't interested. You'd think they would be. But apparently, we women seem to get the cold shoulder when it comes to providing real stories that could help other women having the same sort of problems. I hope someday, the media will be comfortable writing for women as well as for men. I believe its our turn now.
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Dear ElisaRoss,
Wow. What a Journey you and your family have been through. I'm sorry that you have battled this rare disorder and even more sorry that your doctor's dismissed you so early on.
Thanks so much for sharing your story and for inspiring others to continue doing their own research when their bodies are telling them that something is wrong. I'm glad you finally have an answer and hope that your new medication will change your life for the better :)
Best Wishes to you and your family,
Rosa
August 21, 2011 - 1:25pmThis Comment
Thank you Rosa,
August 21, 2011 - 5:30pmI feel worse for my son than I do for myself. He had problems all his life and wasn't diagnosed until he was 17. One of his worst symptoms was anger and anxiety. He was afraid of everything from toilet training to large crowds. He would "zone out" at school, and he was always so tired he would sleep for hours every day with his head on his desk, even though he slept at home. He would also vomit at random times, smell everything from crayons and glue to his hands, develop different nervous muscle tics, and he still battles extreme depression. He even saw a psychiatrist at Riley Hospital for Children whose huband is a doctor who treats children with my son's disease. But even she didn't know to suggest genetic testing. I hope ot get our story featured on "Mystery Diagnosis". I told them how they changed our lives and they sent me an application. Wish me luck!
This Comment
I'm sorry to hear that about your son growing up. As a mother, I know that seeing our children hurt is the worst thing imaginable. On the bright side, he's 17, still young, and now has so much to look forward to thanks to his brave mother who kept pushing against all odds.
Keeping my fingers crossed for your story to be heard!
Rosa
August 21, 2011 - 5:50pmThis Comment