When a kid is born, as parents, we are quick to think our child is unique and special. I was no different. However, my child turned out to be pretty special, but not in the way you would think. My daughter is 1 in 10,000. She was born with a rare neurological disorder called Rett Syndrome. The disorder is “De Novo,” meaning that nor me, nor my husband carry the condition. My daughter developed normally until 12-18 months. Then, as she continued to grow she has been complicated with severe learning difficulties, poor motor development and coordination, poor communication, eating difficulties, seizures, loss of the purposeful use of hands, repeated hand movements and dystonia.
After the diagnosis me and my family faced a lot of uncertainty with her condition. She regressed at age 2, losing the skills that she has already gained. My daughter could throw a ball before, repeat words, spontaneously call me, and did not have seizures. Everyday that passes by without a curative treatment for Rett, I lose more of my daughter… It is heartbreaking as a parent to see her struggling to live when she has so much potential inside of her. Something curious I read about Rett Syndrome is that this disorder “is like having Parkinson’s disease, Autism, Dementia, Epilepsy, and Cerebral Palsy, Anxiety and Breathing Abnormalities all in one child.”
In addition to this, we came to the realization that there is a substantial shortage in genetics professionals, especially researchers. Funding is the main cause. This is greatly needed to continue to advance in this field and to finally find a cure. The only thing preventing finding a cure is funding. We need people that dedicate themselves to further study the variations of the human genome, understand how they contribute to the development of this incurable genetic disorder, and discover how we can eradicate it from the human genome. The demand for gene therapeutic cures for rare disorders such as Rett has increased greatly, and we owe those who suffer from it, a solution. I know first-hand how life altering a diagnosis can be. My child’s diagnosis have shaken all aspects of our existence. But it takes one diagnosis to change a life, and one life to change the course of history.