8/30/2012: Thank you to everyone who donated and left such warm comments. With your support, all three of us are going on this great adventure. We are so excited to see the group of docs at the Angelman Clinic, it's really undescribable!! Thank you thank you thank you from Chad, Erin and Logan Miller.
Logan Miller has got to be the funniest, most charming kiddo on earth. Even when he is grumpy he can make you laugh!!! Fortunately, this is part of Angelman Syndrome (AS). There are other parts of AS that are not so funny. Logan and his parents have been dealing with seizures, feeding issues and broken bones since he was diagnosed at the age of 4. His diagnosis took a very long time because AS is not very common, quite rare in fact, and can be mistaken for other syndromes. There is more about AS below.
On September 6 Logan has the chance to visit the Carolina Institute for Developmental Disabilities where they recently opened a clinic just for Angelman Syndrome. This is our chance to see ALL of the doctors and specialists that know all about AS in one shot. But, unfortunatly, because of costs only one parent can go. This is why we set up this fundraising page.
We see doctors here in Kansas City, but by going to the AS clinic, not only can we get a comprehensive report but these doctors have a chance to take what they learned from Logan and hopefully cure this syndrome. The more they know, the more they can help newly diagnosed families.
We have experienced a lot just in the last few months. As Logan gets older, the struggles of everyday life seem to get harder. He is one smart cookie, don't underestimate this kid!!! This trip to NC is not only valuable to Logan but to his parents too. We are starting a new chapter in Logan's life called "we are almost 10, getting bigger, stronger and more creative". Our hope is that the doctors at the AS Clinic can give us ideas to help us plan for the future.
What is Angelman Syndrome:
Angelman Syndrome is a genetic disorder characterized by developmental delay, speech impairment, severe intellectual disability, microcephaly, seizures, movement disorder and a happy demeanor with frequent laughter. Other symptoms may include feeding and swallowing problems, sleep disturbance, hyperactivity, frequent drooling, mouthing behaviors, strabismus, hypopigmentation, scoliosis and constipation. Angelman syndrome is caused by a disruption of the expression or function of the UBE3A gene located on the maternal chromosome 15 (q11q13).
The Angelman Syndrome Clinic @ UNC:
The UNC Comprehensive Angelman Syndrome Clinic brings together multiple subspecialists into one setting to address the complex medical and psycho-educational needs of individuals with Angelman syndrome. Depending on the specific concerns, patients and their families have access to a clinical geneticist, neurologist, psychiatrist, psychologist, speech language pathologist, physical/occupational therapist, genetic counselor, social worker and nutritionist. All team members have expertise in service provision for individuals with developmental disabilities, including those with significant cognitive, language and physical limitations.
During the clinic visit, the patient and their family members and care providers will meet with each subspecialist to discuss relevant concerns. Following the consultations, the team will provide the family with a summary of their impressions and management recommendations. With family consent, the team will communicate directly with primary care physicians and other allied health professional in the patient’s medical home to provide direct consultation. Additional referrals to other subspecialists within the UNC Hospital system are also possible. Follow-up visits in the clinic will be determined based on each individual’s needs.