Our Diagnosis Story....
When your are expecting your second child, you believe that you know exactly what to expect. “This is all routine” you say, as you go through pregnancy, labor and delivery with all the similar tests, doctor appointments, and routine exams. Everything is perfect, right? That is what we thought until our daughter was born on March 27, 2004.
Danielle Mellinger came into this world with a bang... (we barely made it to the hospital in time!) She was born with normal vital signs and all of her statistics were perfect. Thank God for our perfect family. This addition makes two children...one boy and one girl. Our oldest son, David, was praying for a baby sister and his prayers were answered. Although, we never imagined the medical whirlwind that would encompass us when we were given our beautiful little girl.
At about one month old, we noticed a “twitching” in Danielle’s hands. It wasn’t extremely noticeable at first but as time went on, the movements increased. They began to spread to her arms, legs and feet. At first, we thought Danielle was having seizures, so we were referred to a pediatric neurologist. After an EEG, MRI, and several rounds of blood work, our concerns were increasing. Danielle was developmentally delayed. She was not rolling to her side, reaching for toys, and she never made direct eye contact. Her motor skills were delayed and she could barely hold up her head. She also had a “lazy eye” for which we scheduled an appointment with a pediatric ophthalmologist. She was given the diagnosis of severe astigmatism in both eyes which required glasses. I remember crying the whole way home! “How are we going to keep glasses on a 6 month old?!”, I thought. I was only to find out that those adorable little wire framed glasses would be a blessing to our baby girl! She could see now! She began making more eye contact and reaching for toys. Great! Now, we hoped for more good news.
Test after test came back to us with inconclusive results. We knew something was wrong but no one could tell us what was causing her delay. Then finally, on December 20, 2004, we received our answer. Her genetic testing found a small deletion in her maternally derived chromosome 15, which is characteristic of a rare genetic disorder called Angelman Syndrome. There is only an estimated 1,000 - 5,000 cases in the United States and Canada combined.
In 1965, pediatrician Dr. Harry Angelman, first described three children with the characteristics now known as Angelman Syndrome. He originally named these children “puppet children” because of the movements in their arms that made them look like marionettes. Because of the constant smiles and laughter, this was also called “Happy Puppet”. Although this name might fit the description of our children, parents were much happier to adapt the name of Angelman Syndrome instead of the latter.
Danielle will have severe developmental delay, cognitive delay, and difficulty with her motor skills. Statistically, “Angels” as they are sometimes referred to, will walk between the ages of 4 and 5. Also, she is never expected to speak. Depending of the degree of cognitive delay, she may be able to develop some form of sign language. It may not be traditional American Sign Language, but some form of adaptive sign. Seizures are another problem most Angels must face. Danielle is currently on anti-seizure medication to prevent any manifestations of these seizures.
One can only imagine the absolute heartbreak that our family was going through. Here we are, looking at our precious baby girl as we think of the life long disabilities that she will face. We also think of the constant struggles to do minimal, everyday tasks that we take for granted. “Why”, you might ask, “would God give us such a task?” We wondered the same thing. But now I can tell you that we love Danielle with all of our hearts and she truly is a blessing from God! We thank God every day for our “Angel”! She was given to us as a blessing and we think of her as nothing less than that!
Now our goal in life is to make Danielle as happy as we can by helping her learn, grow and thrive in everyday life. She is currently enrolled in Physical Therapy, Occupational Therapy and Speech Therapy. She is progressing in all of her skills and I hope that she will surpass all of the expectations of Angelman Syndrome.
We want to raise awareness of this disorder while also raising funds for much needed research. The specific deletion in chromosome 15 was only discovered in 1980, so little is known about Angelman Syndrome on the genetic level. The more we research, the faster we could possibly find a cure.
I would like to thank you for listening to my story. I hope this may help someone else in a similar situation. I believe there are many more cases of Angelman Syndrome that have gone undiagnosed or misdiagnosed for either Cerebral Palsy, Autism, or Mental Retardation. Because of this, I will strive to bring attention to this disorder so that we can classify any undiagnosed or misdiagnosed case and help diagnose future cases with ease. One day, I know we will find a cure!
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