Mei-Age 9 years Diagnosis: Med 12 deletion–Xq13.1; skewed X-inactivation Country: USA
Mei blessed our family through the miracle of adoption. She was born in China and joined our family at 34 months of age. She has a medical history which at the time of her adoption included open heart surgery (VSD/ASD repair) and delayed development.
As she grew and developed at home, we found that Mei also had many other diagnoses which included: Childhood Apraxia of Speech (severe), Expressive/Receptive Language Disorder (severe), Global Dyspraxia (severe affecting fine and gross motor planning/ability), Sensory Processing Disorder (affecting body awareness/balance), Visual/Motor Processing Disorder (severe), intermittent exotropia of right/ left eyes, subclinical seizures, hypotonia, microcephaly, dyslexia/dysgraphia (severe), delayed growth, otitis media and other more minor congential anomalies.
After six years, Mei was most recently diagnosed with Med 12 deletion–Xq13.1 with skewed X-inactivation (99:1). Mei has seen many, many professionals since arriving home. She has been seen by cardiology, endocrinology, otolaryngology, neurology, genetics, urology, ophthalmology, radiology, pediatric dentistry, speech/language pathology and occupational therapy. Each specialist has offered the necessary tests and treatments that have led us to Mei’s very rare genetic diagnosis. Currently, she is seen by each of the above specialists for routine follow up or as needs arise. She will continue to need speech/language and occupational therapy services.
As Mei’s parents, we have found that the most difficult struggle we face daily is helping Mei overcome her difficulty communicating particularly in the school environment–i.e. finding ways for her to participate in classroom activities such as oral book reports, telling the cafeteria worker her lunch number, answering basic questions, etc. Because there aren’t many children with the same challenges, there has been a great need to educate those who serve her in the school environment.
It has been a long road in finding the reason behind Mei’s challenges. Her condition is extremely rare. For this reason, and because of her difficult beginnings, it has seemed at times difficult to get doctors to really listen to our concerns. We often have felt that medical professionals have wanted to attribute all of her challenges to her time prior to her adoption. We have known for a long time that there was much more to Mei’s story. We have had to push for additional testing to be done. We have paid high insurance deductibles and out of pocket for necessary medical procedures such as genetic testing. While it has been a journey in finding a diganosis, we are grateful for answers and a better understanding of what her future may hold.
Mei has been blessed with an extraordinary ability to connect with people despite her difficulty verbally communicating. She understands much more than she can express. Her happiness is contagious and she seems to attract a crowd wherever she goes.
I am amazed by her resilience and her ability to face each day with a smile. She is positive, outgoing and is willing to try. She is a girly girl who loves sparkles, pink and princesses. Mei recently celebrated her 9th birthday surrounded by friends whom she refers to as “my people”. It was a princess party, of course, and she was the Belle of the ball. She is literally one of a kind, and we are so grateful to call her ours.