Scarlett's Fund for Noonan Syndrome
Donation protected
Hello everyone, We are Derrik and Alyssa. We have started this Gofundme page for our daughter Scarlett Rose. Our decision to start this page was not taken lightly because this has only been talked about with family and close friends.
Scarlett's story begins before she was even born at just 12 weeks gestation. During an ultrasound Scarlett was diagnosed with a Cystic Hygroma that had formed at the base of her skull. During that same visit it was also noticed that the fetal nasal bone was not clearly identified. These two issues were pointing towards the possibility of Scarlett having some major chromosome abnormalities. At this point a CVS Test was performed to rule out or confirm any chromosome issues. To our delight the CVS Test came back negative. Associated with Cystic Hygroma are heart problems. The Dr did a fetal Echocardiogram and the results were normal. He recomended that we get an Echocardiogram done shortly after she was born. In the coming months the Cystic Hygroma resolved on its own and Scarlett developed normally for the most part.
Scarlett was born on October 4, 2012. 10 fingers, 10 toes, bruised up a bit from her journey into this world, but she was all in one piece. Passed her Neonatal heel prick test and her ABR Hearing Screen, she was good to go.
4 days after we brought Scarlett home we noticed that she was Tounge Tied and that she could not latch on to the bottle very well. Her Pediatrician refered us to a Dr that could clip her frenulum to resolve the feeding issues. As a newborn Scarlett was also diagnosed with Reflux and given a perscription for Zantac.
At around 1 week old we took Scarlett to the Cardiologist to have an Echocardiogram. The cardiologist found an Atrial Septal Defect and said it should close with time and told us to come back in 6 months. At the 6 month follow up the ASD turned into a Patent Foramen Ovale. Again we were told to follow up but this time in 2 years.
At one month we began to notice that she wasn't being startled by loud sounds or even reacting to any noise at all. So at her 2 month appointment we told the Pediatrician about the hearing issues and he refered us to an Ear Nose and Throat Specialist (ENT). The ENT did a test called an OAE which she failed. She was retested at 3 months and 6 months old and she failed each time. The ENT sent her for another ABR Hearing Screen at 7 months old and she passed. During the course of all these tests she started to respond to noise around 5 months old.
As time went by and Scarlett started talking more we noticed that she was not able to articulate her words like other children her age and was having trouble communicating. At her 2 year well check the pediatrician asked if we could understand 25% or more of what she says. We could not, so he told us to take her to Nevada Early Intervention Services (NEIS) to be evaluated for speech therapy.
In October of 2014 we took Scarlett to NEIS and she was evaluated for Speech and Developemental therapy. She did not meet the criteria to qualify at the time but since we told them about her history of hearing issues they said they would set her up with an audiology evaluation. In November she went for the audiology test and she failed. It was determined that Scarlett had a 50% hearing loss with no emissions and no movement of her ear drums in both ears because of fluid in the middle ear. The Audiologist recomended that we take her to an ENT with the results. She then was qualified for therapy.
In February of 2015 Scarlett went to the ENT and he agreed with the audiologist's findings. The ENT scheduled and performed the surgery to place tubes in Scarletts ears to drain the fluid.
NEIS has provided us with appointments with a variety of specialists due to her medical history. It was brought to our attention that Scarlett may have Pierre Robin Sequence (which has been ruled out) because of some of her physical features. For this reason and the Cystic Hygroma NEIS set us up to see the Geneticist, a Craniofacial Surgon, and a Dentist.
Now on to the most recent events.
This week Scarlett saw the Geneticist and was clinically diagnosed with a genetic disorder called Noonan Syndrome. This is the most likely cause of all of Scarlett's medical problems. Scarlett is believed to have a rarer and milder form of NS. This can only be determined for sure with DNA/Genetic testing. The testing that needs to be done is very specific because it maps out the genes and any mutations. There are only a hand full of labs in the United States that can do this test and it is not covered by most insurance companies because it is a very expensive test.
Having this test done will give us a better understanding of what medical conditions may arise in the future and to determine what therapies she may need now and in the future.
All funds collected will be put into a Savings Account for Scarlett and will only be used for this test, other tests that may be necessary, and any therapies that may be needed.
We want to thank you for taking the time to read Scarlett's story.
Scarlett's story begins before she was even born at just 12 weeks gestation. During an ultrasound Scarlett was diagnosed with a Cystic Hygroma that had formed at the base of her skull. During that same visit it was also noticed that the fetal nasal bone was not clearly identified. These two issues were pointing towards the possibility of Scarlett having some major chromosome abnormalities. At this point a CVS Test was performed to rule out or confirm any chromosome issues. To our delight the CVS Test came back negative. Associated with Cystic Hygroma are heart problems. The Dr did a fetal Echocardiogram and the results were normal. He recomended that we get an Echocardiogram done shortly after she was born. In the coming months the Cystic Hygroma resolved on its own and Scarlett developed normally for the most part.
Scarlett was born on October 4, 2012. 10 fingers, 10 toes, bruised up a bit from her journey into this world, but she was all in one piece. Passed her Neonatal heel prick test and her ABR Hearing Screen, she was good to go.
4 days after we brought Scarlett home we noticed that she was Tounge Tied and that she could not latch on to the bottle very well. Her Pediatrician refered us to a Dr that could clip her frenulum to resolve the feeding issues. As a newborn Scarlett was also diagnosed with Reflux and given a perscription for Zantac.
At around 1 week old we took Scarlett to the Cardiologist to have an Echocardiogram. The cardiologist found an Atrial Septal Defect and said it should close with time and told us to come back in 6 months. At the 6 month follow up the ASD turned into a Patent Foramen Ovale. Again we were told to follow up but this time in 2 years.
At one month we began to notice that she wasn't being startled by loud sounds or even reacting to any noise at all. So at her 2 month appointment we told the Pediatrician about the hearing issues and he refered us to an Ear Nose and Throat Specialist (ENT). The ENT did a test called an OAE which she failed. She was retested at 3 months and 6 months old and she failed each time. The ENT sent her for another ABR Hearing Screen at 7 months old and she passed. During the course of all these tests she started to respond to noise around 5 months old.
As time went by and Scarlett started talking more we noticed that she was not able to articulate her words like other children her age and was having trouble communicating. At her 2 year well check the pediatrician asked if we could understand 25% or more of what she says. We could not, so he told us to take her to Nevada Early Intervention Services (NEIS) to be evaluated for speech therapy.
In October of 2014 we took Scarlett to NEIS and she was evaluated for Speech and Developemental therapy. She did not meet the criteria to qualify at the time but since we told them about her history of hearing issues they said they would set her up with an audiology evaluation. In November she went for the audiology test and she failed. It was determined that Scarlett had a 50% hearing loss with no emissions and no movement of her ear drums in both ears because of fluid in the middle ear. The Audiologist recomended that we take her to an ENT with the results. She then was qualified for therapy.
In February of 2015 Scarlett went to the ENT and he agreed with the audiologist's findings. The ENT scheduled and performed the surgery to place tubes in Scarletts ears to drain the fluid.
NEIS has provided us with appointments with a variety of specialists due to her medical history. It was brought to our attention that Scarlett may have Pierre Robin Sequence (which has been ruled out) because of some of her physical features. For this reason and the Cystic Hygroma NEIS set us up to see the Geneticist, a Craniofacial Surgon, and a Dentist.
Now on to the most recent events.
This week Scarlett saw the Geneticist and was clinically diagnosed with a genetic disorder called Noonan Syndrome. This is the most likely cause of all of Scarlett's medical problems. Scarlett is believed to have a rarer and milder form of NS. This can only be determined for sure with DNA/Genetic testing. The testing that needs to be done is very specific because it maps out the genes and any mutations. There are only a hand full of labs in the United States that can do this test and it is not covered by most insurance companies because it is a very expensive test.
Having this test done will give us a better understanding of what medical conditions may arise in the future and to determine what therapies she may need now and in the future.
All funds collected will be put into a Savings Account for Scarlett and will only be used for this test, other tests that may be necessary, and any therapies that may be needed.
We want to thank you for taking the time to read Scarlett's story.
Organizer
Derrik Farmer
Organizer
Henderson, NV
