According to NORD (the National Organization for Rare Diseases), there are over 7,000 rare diseases affecting about 30,000,000 Americans. In other words, one in ten people you encounter will be diagnosed with what is considered a rare disease. A disease is considered rare when it affects less than 200,000 people. February is Rare Disease Awareness month with each day usually calling out one particular illness, syndrome or disease.
I had no way of foreshadowing that this information would be so readily accessibly in my brain or even pertain to me. Or that February 15 would become a date so hugely important in my calendar and planner.
My name is Melissa Winger and I am the blessed mama of an angel, my 3 year old son Will(iam). Will was born November 8, 2009 and diagnosed with Angelman Syndrome October, 2011. I am also mama to my beautiful, smart, fully functioning Gabbie who will be 12 this March.
Angelman Syndrome ("AS") is a rare neurogenetic chromosomal syndrome caused by a deletion or other issue of the 15th chromosome. Each of us receives one set of chromosomes from mom and an exact, opposite set from dad. Angelman Syndrome's core cause normally lies on the maternal copy of chromosome 15. Will's form (or genotype as the medical community calls it) is caused by the fact that there is no materal copy of chromosome 15. In other words, in laymen terms, it is like reading a really great novel only to discover 4 pivotal chapters are missing. These chapters are "controlled" by mom's copy of chromosome 15 given to baby. They dictate speech, motor skills, seizure control. Will's official diagnosis is Uniparental Disomy Angelman Syndrome (a more thorough explanation is available for those of you who like facts at http://www.angelman.org/understanding-as/medical-info/genetic-mechanisms-of-angelman-syndrome/). Characteristics of AS include delayed developmental milestones (or just plain not ever reaching them), lack of speech, poor balance, trembling extremities, extreme happiness, seizures, stiff movements, crossing of the eyes, tongue thrusting, feeding issues. These are some of the more prominent syndromes. Majority of people living with AS are misdiagnosed as autistic. In fact, I had to request the test for AS when everything else was coming back normal and it was clear Will was not a fully functioning child. We'll get there.
So, at a high level and quite technically, that is my life raising my beautiful children. I hope you stay to hear the story of a crazy 30-something single mom of two who is trying to bring awareness to a syndrome most have never heard of, including medical professionals. To try and raise awareness in order to raise funds to maybe have treatments one day. To walk in a hospital and have the medical professionals know about AS the same way they know about autism or down's and not just the little bit they learned in med school. Make friends, share laughs, tears, hardships. I am so grateful for this avenue to share our story, spread the word and maybe, just maybe, touch one person in some way. Then I know it is effective!