Emmett’s firsts pediatrician completely ignored all my concerns and made me feel like a crazy psychotic overreacting parent. After Emmett’s fourth visit with him, I left crying out of his office.I was so frustrated because he refuse to accept any of my concerns. Later,I moved on and found this amazing nurse practitioner that quickly took all of my concerns and referred him very quickly. I also contacted my local CVRC and made a referral with them myself. They quickly came and before we knew it, we had began Early Intervention. Some specialists told me I was overacting to give him time. Some said it was autism, he’s delayed, or just wait until he’s older. One neurologist in particular changed our lives. He was the third neurologists that I had seen. He took one glance at Emmett and said “ Look, I don’t know what is going on with Emmett, but what I do know is that there is something there. I will referred you to a geneticists, maybe he can help you, if he doesn't figure it out, come back and we will figure it out”. I knew at that point that in fact I was not overacting and that I should not second guess myself.I went to my pediatrician and immediately asked to be referred at out as soon as possible. Our first visit to the geneticist was amazing. He evaluated Emmett and asked about a million questions. He took all of my concerns into consideration, and then he order blood work.
I took Emmett to get the blood work done and I decided I to take a picture of his blood order form. I researched what he had been tested for and to see if I could figure it out while waiting for results. Getting the results took about 3 months. So I looked at the sheet and I googled every single one of them. They were about 10 different genetic disorders he was being tested for. After I came across Fragile X Syndrome I quickly knew that was what Emmett had and the more I researched, the more it appeared that fit all symptoms and characteristics. I researched every corner of the internet until I saw every single article and video on Fragile X syndrome. The day I was supposed to get the results they didn't have them. They had lost Emmett’s blood sample for Fragile X, but the geneticist reassured me that he had tested negative for all the other syndromes. So he ordered another lab order and once again we went to get more blood work. I begged the geneticists to please let me know as soon as he got the results, that I wasn’t going to wait months like the last time. Four days later he called and asked that we come in to see him, and to bring my fiancé Juan Emmett’s Dad with me. I knew that he had tested positive, but my heart still had high hopes, and that I was being the overacting mom like everyone said I was.
As we waited in the waiting room for nearly an hour, it felt like eternity. Juan and I stared at each other, reassuring ourselves that is was going to be ok. We were both dead tired and feeling extremely scared. I made a list of questions to ask the geneticists in both scenarios if he did or didn’t have it.
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