I have fallen in LOVE with these 2 little Angels! Please take a moment to read their stories. My main focus is to share with you their stories, and raise awareness for both of their situations. If you can, donate, whether by your time, monetary means, or helping to raise awareness! xo
Meet Destiny - the love of our lives and the joy in our hearts. Destiny is an innately happy, loving, infectiously jolly little girl who happens to be struggling with a rare seizure disorder, called Dravet Syndrome. Destiny was born with a SCThe SCN1A gene contains instructions for the creation of proteins that regulate the function of sodium ion channels within the brain. This mutation of the gene causes Destiny's seizures.
You see, Dravet Syndrome has only relatively recently been identified as a distinct syndrome, and they are learning more and more about the SCN1A gene and it's mutation effects all the time.N1A mutation.Now research confirms that if the genetic abnormality is present, and there are mild clinical symptoms in a child's early years, that that said child will likely reach a point where the symptoms become rampant. There are so many people with intractable epilepsy who have this syndrome but have not had the proper genetic test which would diagnose them. Fortunately, that is slowly changing. It's estimated that one baby with this genetic abnormality is born in the United States every single day.
Dravet Syndrome may be considered 'rare' today, but I have a feeling that will not be the case in coming years, when this SCN1A genetic test is standard for children and youth with difficult to control epilepsy.
There is no cure for Dravet Syndrome and Destiny will never out-grow her seizures.
Dravet Syndrome was first described by French physician, Dr. Charlotte Dravet in 1978. Children with Dravet experience almost every type of seizure known. The first seizure usually occurs in an otherwise normal, healthy infant before one year of age and is usually associated with fever. Seizures then occur without fever, eventually becoming frequent and resistant to treatment. They also tend to be prolonged, lasting more than 5 minutes. Prolonged seizures may lead to status epilepticus, a medical emergency. Status epilepticus is defined as a seizure that lasts more than 30 minutes, or seizures that occur in clusters, one after another.
Children with Dravet Syndrome are likely to develop other complications. Developmental delays may or may not include regression or loss of developmentally attained skills. Children may be delayed or impaired in speech, exhibit autistic- like behaviors, or lose their ability to control movement (ataxia). Children may have difficulty sleeping, be prone to infection, or become sensitive to temperatures, visual patterns, and environmental lighting. The degree to severity of these delays has a direct correlation to the intensity and frequency of seizures. Children with Dravet generally have shorter lifespans.
To date (9/21/11), this sweet child of has five seizure types that we know of -Tonic Clonic, Complex Partial, Atypical Absence, Absence and Myoclonic, all of these complimented by clusters. Over the summer, and until a recent common cold, Destiny's seizures were controlled during the day with medication and the Ketogenic Diet. (Nights were still a bit rough). A three day cold spun Destiny's seizures out of control, introducing Partial Complex Seizures as well as Atypical Absence Seizures to the mix, and many very scary status seizures. Complications have been exasterbated, especially relating to developmental regression hit hard...and may be most difficult, for me, as a mother to see. These hard times didn't go away with or weeks after Destiny's illness.
Destiny's Neurologist is confident that Destiny needs to start on the only Dravet-specific drugs available, Clobazam and Stripentol (STP). Neither are FDA approved, but have been successful in treating Dravet patients in the European Union for years. They are both available in the US as "orphan drugs". People with rare, life-threatening diseases can import medications that are not approved by the FDA into the U.S. on a compassionate use basis.
Even though Clobazam and STP are not FDA-approved (because the research and process for approval is extremely expensive and intensive), many states have found ways to purchase them for children on Medicaid, due in large to massive amounts of advocacy and persistence of parents in those states. I will post a list of states that pay for the necessary drugs as soon as possible. I think you will be surprised at how many states are already on top of it - I am! (It sucks that if we lived in Utah, where Destiny and Benny were born, that I wouldn't be able to get the personal assistance that I need to survive and parent my children, but my daughter would receive the life-saving medication that she so desperately needs.)
Again, Colorado Medicaid has agreed to pay for Clobazam and STP, but they are stuck on creating a process to do so. As with most things like this, Colorado is sure they can find a better way to purchase the drugs and refuse to follow what other states have done, leaving kids like Destiny to deteriorate or placing the hefty financial burden on their families.
How YOU Can Help!
Visit Destiny's Donation Blog and make a donation directly to Destiny. You can also read up on Destiny's progress here too!
Ethan was born on October 23, 2009, by caesarian section, because his head was too big for delivery. This was pretty common, so the doctors weren’t concerned, even though he wasn’t a very large baby. Each well baby checkup visit with his pediatrician showed that Ethan’s head was pretty large compared to the average, he was always in the 95th plus percentile.
On July 28th 2010 we went in for Ethan’s nine month checkup, his head was measured like usual, and everything seemed great. Until they realized that Ethan’s head had grown significantly, and he was now in the 120th percentile (which is off the charts). His pediatrician sent us immediately to the hospital so Ethan could get a cat scan of his brain. Ethan’s pediatrician told us that it was just a precautionary measure, and that there probably wasn’t any problem.
As soon as his scan was complete, the radiologist called me in to speak with Ethan’s pediatrician, on the phone, who went on to explain that they had found a mass in Ethan’s brain, called an arachnoid cyst. We were then being referred to a neurosurgeon at Primary Children’s Medical Center to discuss what to do next.
Arachnoid cysts are cerebrospinal fluid covered by arachnoidal cells and collagen that may develop between the surface of the brain and the cranial base or on the arachnoid membrane, one of the three membranes that cover the brain and the spinal cord. Arachnoid cysts are a congenital disorder, and most cases begin during infancy; however, onset may be delayed until adolescence.
Ethan went in for an MRI on August 19th 2010 and we were scheduling brain surgery for 4 days later. Ethan’s first brain surgery was on August 23rd 2010 the day that he turned 10 months old. Because of complications we were in and out of the hospital. On September 17th 2010 Ethan had an emergency brain surgery to put a drain into his brain to drain excess fluids. We were in the hospital for 5 days and the doctors thought that had fixed everything, but the next night we were back at the hospital so Ethan could have a shunt placed inside his brain to treat hydrocephalus. After the shunt was placed, Ethan showed improvement within days. He learned how to walk and was meeting all of his milestones.
At 18th months we had suspected that Ethan had some developmental delays and had regressed in his speech, so we took him to a speech therapist, which confirmed that Ethan had major language delays and gross motor delays.
He started seeing a Speech Therapist two times a week and an Occupational Therapist once a week. He also started in early intervention with the school district.
On November 22nd 2011 Ethan was diagnosed with an Autism Spectrum Disorder called Pervasive Development Disorder (PDD- NOS)
Autism is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism affects information processing in the brain by altering how nerve cells and their synapses connect and organize; how this occurs is not well understood.
At the end of 2011 we found out that our insurance company doesn’t cover any of Ethan’s therapies, and that we would have to pay $2500 a month out of pocket for his therapies. Because we cannot afford this we had to cut them down to only 3 times a month.
Ethan now sees a Speech Therapist and Occupational Therapist at Primary Children’s Rehab Center. He also sees an Occupational Therapist and Early Intervention Coordinator at our home twice a month. He is currently attending music class at Kari Sue Hamilton Special Needs School, and is going to start a toddler class in August. He will also be starting early intervention Preschool in October. Ethan is slowly showing improvement. But he would show greater improvements with more intense therapy.
We continue every day to fight to get the help that Ethan needs, and try to do everything possible for him! To read more about Ethan or to make a donation, you can visit his blog at: http://ethanscyst.blogspot.com/
How YOU can help!
Ethan's family is currently raising funds for Autism via: http://www.walknowforautismspeaks.org/utah/teamethan as well as through his blog: http://ethanscyst.blogspot.com/
They would LOVE if you can visit some awareness sites for Arachnoid Cyst, and become involved in your local Autism Awareness community.