By Stephanie Forman, President
The reason for all of this is Olivia. Actually Liv4TheCure stands for Olivia "Liv", the deletion on her 4th chromosome and the cure that we are working towards.
Olivia was our first born. We were so excited that we were having a little girl. She would be daddy’s little girl. Like any first-time parent we scurried around getting ready for her arrival. taking classes, figuring out birth plans, making sure the house was ready. Looking back, it is funny because all of that preparation was just busy work. Once she was born my entire view point on life did a 180.
Olivia was born in October of 2014. She was 4 weeks early and only weighed 4lbs 2oz. She was considered IUGR and failure to thrive and spent 21 days in the NICU. I’ll never forget the day she was released… no more days would have to be spent in the hospital, no more good byes would have to be said each day – she was coming home! As the months went by it seemed like Olivia’s development was slower than normal. By five months old she was diagnosed with a deletion on her 4th chromosome. Our lives were forever changed.
The next few months were spent learning all we could about Wolf Hirschhorn Syndrome, seeing doctors, finding a network of support, and learning how to be advocates for Olivia. Olivia immediately began early intervention services; physical therapy, occupational therapy, speech, special education and vision. By eight months Olivia had her first seizure, a common characteristic of the syndrome. From November 2015 on we would spend numerous days and weeks in the hospital. Olivia’s deletion resulted in seizures, cognitive and developmental delays, feeding issues, hypotonia and an atrial septic defect. She is VERY lucky.
"She deserves the best, like all children do and like all children with rare diseases do."
Through all the obstacles in her way, Olivia persists and continues to amaze us. She has taught herself to sit, roll, stand and now is learning to walk. Her and her father spend each night practicing standing. The question is always, “Olivia, do you want to practice standing?” and we are greeted with a huge smile from ear to ear. She doesn’t talk yet but she understands us and communicates threw smiles and hand gestures. There is no question in my mind that she will one day walk and talk.
In the back of our minds though lies the question, “Wouldn’t it be amazing if we could take away all of her aliments and delays? If we could take away her seizures, help her to talk and walk and run like other children do?”
This is the purpose of all of this, our daughter, and a dream to make her life as full as possible. We are blessed with this little girl who is strong and stubborn. We blessed with this little girl who has changed our view point on what life is all about. She deserves the best, like all children do and like all children with rare diseases do. This is why Liv4TheCure exists.
The goal of Liv4TheCure is to promote interest in chromosomal deletion syndromes and find the Elon Musk of chromosomal deletions and gene therapy techniques. The possibilities are endless and could relate to a very large number of diseases and genetic mutations.
What is Wolf Hirschhorn Syndrome?
Wolf Hirschhorn Syndrome (WHS) is a rare chromosomal disorder that affects 1 in 50,000 births with a 2:1 ratio of girls to boys.
In 1961, Herbert Cooper and Kurt Hirschhorn first described WHS. Publications by Ulrich Wolf and Hirschhorn gave WHS worldwide attention which lead to its naming "Wolf Hirschhorn Syndrome".
Wolf Hirschhorn Syndrome is a partial deletion on the short arm (p) of the 4th chromosome. In most cases it is caused by spontaneous genetic changes in embryonic development but in some cases it results from parents having a balanced translocation meaning that two or more chromosomes break off and trade places and create altered but a balanced set of chromosomes. A person with a balanced translocation has all the necessary genetic material for normal development and does not usually affect the carrier but affects the carriers offspring. NSD2, LETM1 and MSX1 are the genes that are deleted in people with the typical signs of the disorder each one carrying a different aspect of the signs. NSD2 is related with characteristic features of WHS and developmental delays. LETM1 is associated with seizure activity and MSX1 dental abnormalities and cleft lip/palate.
Kids with WHS have varying affects due to the amount of genetic material that is deleted from the chromosome. There are physical characteristics such as wide set eyes, a broad nose, cleft palate and club foot. Children can have have low birth weights, prematurity due to growth restriction, heart and kidney defects, hyptonia, problems gaining weight and seizures. Motor skills such as sitting, standing and walking and verbal communication can be significantly delayed. On the other hand, children with WHS have strong socialization skills and seem to be happier children.
Although there is no straigh forward treatment for WHS, Early Intervention therapies such as physical, occupational and speech therapy have an important impact on children with WHS.
For more resources on Wolf Hirschhorn Syndrome, refer to the links below:
There is also a great Facebook group.
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