DAILY LIVING & MOBILITY

Emily Sofía: A Princess of Light Fighting Rett Syndrome

Rare Disease & Syndrome

Emily Sofía Hung

I'm Emily Sofía Hung Cisneros & I Have Rett Syndrome

Hi, I'm Emily Sofía Hung Cisneros, and I have Rett Syndrome. I am 6 years old, Venezuelan, and I live in Valencia, Venezuela with my parents (Nelson and Geraldine) and baby brother (Gabrie, who is 11 months).  I want to tell you my story.

My Story: Fighting Rett Syndrome

My parents were very happy when they found out that they were expecting me. I was born on March 5, 2011 and since that day I have been the princess of the house. Although I said my first words at 4.5 months  ... "Mom," "dad," and "map," my motor development was a bit slower than normal. I sat at 9 years old, crawled at 11 years old, and stood up at 13 months. 

Around 14 months, my whole family noticed that something was not right because I no longer smiled or played, I stopped talking, did not grab anything, and stereotypies appeared in my hands (repetitive movements without a specific purpose). That was when the visits to pediatricians, neurologists, and initiation of stimulation began with physical therapy and occupational therapy. My diagnosis was still incomplete, and the doctors thought that I had Hypotonia and possible Autism. I started to wander around at 18 months. At 21 months I had a genetic test for Rett Syndrome, which was positive. It was not easy for my family to understand and accept this diagnosis, but love can help anything. My mom, dad, and other relatives did everything to improve my quality of life.

Let`s talk about Rett Syndrome

According to the Spanish Association of Rett Syndrome, it is a rare disease that can affect 1 in every 10,000 - 12,000 girls born. It affects all racial and ethnic groups in the world. It is a severe neurodevelopmental disorder of genetic origin due to a mutation of the MECP2 gene of the X chromosome. The MECP2 gene is responsible for the production of a neurotransmitter protein necessary for the normal development of the brain. The genetic mutation that causes the syndrome appears randomly in most cases.  The most severe disability of this syndrome is Apraxia, which is the inability for the body to perform motor movements. This affects: gaze, speech, hands, crawling, balance- basically everything that is movement related.

As Elisabet Pedrosa says in his book: Creatures Of Another Planet, a Chronicle of a Struggle Against Rett Syndrome, "it is as if an orchestra director wouldn’t be able to direct his musicians and they would individually play when they were come in will."  Rett syndrome has no cure or effective therapies to stop the disease.

Another characteristic of Rett syndrome is epilepsy

My first seizure occurred when I was 3 years old. After a while I lost my muscular tone and fell to the ground. I took Trileptal (Oxcarbazepine) and Keppra, (Levetiracetam) but the seizures did not improve. I was an irritable girl who cried all the time. After almost a year of convulsing daily, I lost the ability to walk causing me to use a stroller daily.

In February of 2015, my parents took me to practice a Video Electroencephalogram of 72h (Video EEG) and my medication drastically improved my mood. I became a happy girl again who smiled. The seizures disappeared for about a year.  Currently, my diagnosis is Rett syndrome / Drug-Resistant Convulsive Syndrome. I usually have two seizures daily even though I am medicated with: Topiramate * 150mg / day, Clobazam * 5mg / day, and Valproic Acid 450 mg / day. * These medicines are not available in my country due to the lack and shortage of medicines, that's why my family needs to import them.

My Rett syndrome Treatment

To keep my quality of life I attend: physical therapy, occupational therapy, language therapy, psychopedagogy and hydrotherapy, which is my favorite.  I need help for all activities, from personal hygiene (I use diapers), feeding and recreation as I do not have proper use of my hands. Also, my parents take me periodically to the neuropediatrician, physiatrist, traumatologist, and orthopedist. I have to perform EEG tests in controlled laboratories (Rx - column, hip and feet). I also use feet splints (Static AFO) even though I do not like them.  

Thanks to the continuity of my therapies, I have recovered the ability to walk. I am very clumsy and unstable, and I must be transferred into a pediatric wheelchair.

Rett Syndrome In Venezuela

I'm a fighter! No matter how many times I fall to the ground, I always want to keep walking despite being tired. Sometimes convulsions steal my strength, but with a little patience and rest I move forward with a big smile.

I'm also always fighting for access to my medicine. I have to seek help to receive my medicine because the social and political situation in Venezuea is terrible. Medicine does not exist in pharmacies, and every day the cost of all basic goods goes up enormously.  If you want to know more about my story, please follow me on instagram: @unaprincesadeluz.

www.gofundme.com/emilyvenezuelarett
Follow my journey on Instagram: @unaprincesadeluz

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