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Jackson Stormes:A Difficult and Amazing Journey

       Living with Dravet Syndrome and all the complications

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NJ/NY Dravet Clinic

The children in the NJ and NY area deserve a true comprehensive care Dravet Clinic with qualified and trained pediatric and adult epileptologists for their on going needs related to seizures and other co-morbidities. This includes the Dravet component and the other factors which impact our children in their daily lives. Having to book multiple doctor appointments and seek out other interested qualified specialist who understand the unique needs of our children should be provided in one location on the same day. This would decrease the need for repeated travel, waiting times and seeking for the needed help with communication with the neurologist. A team approach for our children makes much more sense and will benefit their ongoing health as well as their cognitive growth. This would include access to pediatric epileptologists, neurologist specializing in dysautonomia, orthotic specialist, cardiac specialist, physical therapist, occupational therapist, speech therapists, compounding pharmacies and more.

Benefits

Research in the area of comprehensive care proves that collaborative work of the medical and nursing professionals for the good of the patient and family can improve the outcome (or perceived outcomes) for children and their families dealing with chronic illnesses. Providing comprehensive knowledge and a source of knowledge for children and their families in all stages of the diagnosis is an invaluable resource and proactive approach to minimize possible complications or co-morbidities for the child and family support.


Every clinic day would have the basic services for each child and family including epileptology, neuropsychology and genetics. The family can request and have the nursing staff arrange for the other appropriate specialists necessary for that individual child on the same day. This approach will individualize the care and treatment, decrease cost to the family and insurance companies and increase the efficiency of time when care for the child.


The collaborative team approach will eliminate the possibility of misunderstanding medications or treatments prescribed, avoid unnecessary poly-pharmacologic situations and improve communication between the families and the professionals to better care for the complicated needs of the child.


The opportunity to meet other families and seek out support from other families in similar situations will have the ability to meet and work together.


The professionals involved in the care of the child will work with the epileptologist and with guidance will understand the request or referral for cardiac or orthotic issues. No longer will it be the responsibility of the family member to explain the potential problems or concerns in layman's terms. The professionals can guide each other to provide the best care for the children and their family. This will also decrease the level of stress on the family members trying to coordinate care, learn about the chronic illness and arrange for other services within the boundaries and guidelines of their insurance or financial means.

Listed are possible needs for children and families:

· Neurologist/Epileptologist

· Geneticist

· Neurodevelopmental Pediatricians

· Nursing

· Social Work

· Nutritionists/Ketogenic Diet Specialist

· Bone Health Specialists and Orthotist

· Habilitation Services

· Cardiologist

· Immunologist

· Endocrinologist

· Dysautonomia Specialist

· Pharmacologist

· Researchers

· Other specialist as needed for each variation and need

Goal

Medical and nursing care provided based on the most current Evidence-based practices and outcomes research for children with intractable epilepsy often related to genetic abnormalities affecting the ion channels.


  • Driven by patient and family needs based on primary diagnosis and co-morbidities utilizing patient and family continuous and direct input.
  • Combining efforts and existing knowledge with epilepsy centers and national organizations to advance the knowledge of intractable epilepsy.
  • Participation in research, registries and treatment trials that will be allow for advancement of treatment for these children and their families.

Mission


The goal is to standardize and improve the clinical care and outcomes provided to children with intractable epilepsy caused by genetic mutations affecting the ion channels or with a clinical presentation without a known genetic abnormality.


Examples of epilepsies to be covered by the clinic are Dravet Syndrome, LGS, medically refractory, cryptogenic or idiopathic epilepsy. 

Target Population

Children and families suffering from epilepsy which is non-responsive to traditional medications, treatments, and surgical interventions.

Inclusion Criteria:

     · Seizure/epilepsy

      · Positive genetic mutation on known genetic locations:

                    · Voltage gated sodium channel genetic markers

                            (SCN1a, SCN1b, and SCN2a)

                    · GABA receptor genes

                             (GABRG2 and GABRD)

       · Onset of seizures before one year of life

        · Onset of seizures correlating with immunizations

        · Diagnosis of SMEI, PMEI, FS, GEFS+

        · Severe or unexpected febrile seizures

        · Severe or frequent status epilepticus

        · Seizures persisting longer than 5 years

Logistics


The clinic will take place on a set day of a set week every month with an ongoing effort at improving patient outcome and improved quality of life for the children and effected families. Each child and their family will be scheduled to meet with the medical professional who will improve the quality of their care one the same day in the same clinic visit. Not every specialist will be necessary for every child, but when needed, the unique need will be met with a visit from the appropriate specialist.


The medical reports will be generated and the specialists will collaborate together on each child/family to address their unique needs and ongoing concerns. The group can make recommendations as to care, treatment and appropriate future medical needs.


The location where the child will meet with the medical professionals will be in a child friendly setting with access to child life personnel and other volunteers which allow the families to have meaningful of information and communication with the medical professionals. Each medical professional will bill separately for their own services occurring in a central location where the child and the family is meeting.  

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