A few days ago, in my introduction post, I talk about an special girl for me with an special condition called Rett Syndrome.
Let me introduce you to Emily Sofía, a Princess of Light
Hi, I'm Emily Sofía Hung Cisneros, I'm diagnosticated with Rett Syndrome and I want to tell you my story.
I am 6 years old, I am Venezuelan, I live in Valencia - Venezuela with my parents: Nelson and Geraldine, and my baby brother Gabriel of 9 months.
My story:
My parents were very happy when they knew that I was coming. I was born on March 5, 2011 and since that day I am the princess of the house.
Although I said my first words at 4 months and a half ... "Mom", "dad" and "map". My motor development was a bit slower than normal. I sat at 9, I crawled at 11 and I stud up at 13 months.
Around my 14 months, my whole family noticed that something was not right. I no longer smiled nor played, I had stopped talking, I did not grab things and stereotypies appeared in my hands (Repetitive movements without a specific purpose). Today they continue, and although I understand the command "hands down" involuntarily always carry them to my mouth.
That was when the visits to pediatricians, neurologists and initiation of stimulation began with physical therapy and occupational therapy. My diagnosis was still incomplete: hypotonia and possible autism. I started to "go" (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; however, love can do everything and mom, dad and other relatives have done everything to improve my life's quality.
Rett Syndrome
According to the Spanish Association of Rett Syndrome, it is a rare disease that can affect 1 of every 10,000 to 12,000 girls born alive. 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 one of the 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 and severe disability of this syndrome is Apraxia, which is the inability to the body to perform motor movements, which affects: gaze, speech, the hands, the march, the crawling, the balance, everything. As Elisabet Pedrosa says in his book: Creatures Of Another Planet, a chronicle of a struggle against Rett Syndrome, "it is as if an orchest 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.
Epilepsy
The strongest part of my illness is epilepsy. My first seizures 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 seizures did not improve. I was an irritable girl and I cried all the time.
Almost a year convulsing daily caused me to lose the ability to walk and I had to be move with a stroller daily.
In February of 2015, my parents take me to practice a Video Electroencephalogram of 72h (Video EEG) and my medication markedly improved my mood, I became a happy girl again and smiling. Seizures disappeared for about a year.
Currently, my diagnosis is Rett syndrome / drug-resistant convulsive syndrome, I usually have 2 seizures daily although I am medicated with:
Topiramate * 150mg / day, Clobazam * 5mg / day 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 should import them.
My care
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, due I do not use the hands properly.
My parents should take me periodically to the neuropediatrician, physiatrist, traumatologists, orthopedists. I have to perform control laboratories, Rx - column, hip and feet, EEG. Also I use feet splints (Static AFO) although I do not like them.
I count on your prayer and your contribution, so that my parents can buy and import my medicines and diapers because it is impossible to obtain in our country due to the current socio-economic situation.
For donations directly in US $ or Euro € contact my mom to: geralcm@gmail.com
Also you can go to https://www.gofundme.com/emilyvenezuelarett and make and donation, or if you´re not able of helping her with money, you can doing it by voting this post.
Please share my story and so let us know about Rett syndrome.
Instagram: @unaprincesadeluz
God bless you and multiply your generosity with health and prosperity.
Thank you so much.
Emily Sofia Hung Cisneros