"Before my daughter's diagnosis, she saw multiple doctors who assured me she was okay. One doctor even said he thought I was the problem."

A photo of a patient with Rett syndrome. Many Photo of a patient with Rett syndrome. Many patients with RS show involuntary hand wringing or mouthing.
As told by Luisa, mother to Isabella, who was diagnosed with Rett Syndrome. Multiple doctors assured Luisa that her daughter was fine.  At the urging of a good friend, Luisa sought a second opinion from a neurologist and a geneticist. Only then did Isabella receive her official diagnosis.

Everything was normal during my pregnancy and birth with my daughter, Isabella. It was not until she started playing with her cousin, who was about the same age, that I noticed some differences. Isabella had less muscle tone and could barely sit up. She was almost too good of a baby – she rarely cried, was not very active, and would stare at her toys.  

Isabella saw three pediatricians before she was a year old. Only one of them picked up that there might be something wrong with her. The two other doctors assured me she was okay. Despite the physicians' assurances – I had a gut feeling that something was not right. While visiting Colombia, my birth country, for a work trip, my mother took Isabella to a pediatrician who recommended Isabella get an MRI. When we returned to the US, I told her pediatrician that Isabella needed an MRI and to start early intervention services. He initially refused to order the MRI,  saying nothing was wrong, but I continued insisting that she needed one until he finally ordered it.

Isabella's MRI showed that her cerebellum was smaller than average. The neurologist said that it is not unusual for people to have smaller than average cerebellums, and that it would not affect Isabella. The neurologist did not see a problem with Isabella – he thought I was the problem.  I left that appointment devastated. She was my first child - could I really be thinking that there was something wrong with her when she was normal?  

Over the next several months, we went to other specialists, but Isabella's tests all showed normal results.  

We were waiting for the results from her autism assessment when a friend of mine strongly suggested that I take Isabella to a children's hospital to get a second opinion from neurology and see a geneticist. My friend worked with children with disabilities, so I took her advice and made the appointments.  Had it not been for my friend’s suggestion, I would not have known to request an appointment with a geneticist.

The neurologist at the children's hospital told me he thought that Isabella had Rett Syndrome.  The geneticist also thought it was Rett Syndrome, but could not confirm the diagnosis until we received the results.  I was advised to not research the syndrome on the internet, but I had to know if the symptoms fit. I began to doubt that Isabella could have Rett Syndrome – my daughter’s symptoms were not as extreme as what I saw in the videos.

The six months of silence between those appointments and receiving her results were horrible. When the nurse delivered the news - she said the bad news was that Isabella has Rett Syndrome, but the good news was that we now had a definitive diagnosis. One part of me understood the importance of having an answer, but another part was distraught and afraid. At this point, Isabella did not have major complications; however, I knew from my research that her symptoms would likely get worse as she got older.  I felt like I lost a child that day. Even though I had been reading about Rett Syndrome, I still had hopes and dreams for my child.  

The children’s hospital put us in touch with the mom of another child who had Rett Syndrome and that mother connected us to a camp for children with Rett Syndrome. When we went to the camp and I saw everyone, it almost destroyed me. At this point, Isabella was only two years old, so seeing the campers was like seeing all the stages of what Isabella's life might be in one place. I remember crying and feeling embarrassed. But the families of the children were amazing. They knew what I was going through because they had already  been through it. The families helped me navigate the resources available at the state level so that I could get the support my daughter needed. Now I help families new to this diagnosis just as those families helped me.

My daughter is 14 now, and I have learned that things get better over time; you learn how to adjust your goals. We had to learn to face Isabella’s diagnosis and what that meant for our family, which was painful, necessary, and helpful all at the same time.  

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