Ellyse was born 3 weeks early on August 21, 2006. There were not any significant problems with the pregnancy, yet she was born early by c-section. At birth, she weighed 6 lbs and was 20 inches in length. She had difficulty nursing and eating from the beginning due to sensory issues of her mouth. She constantly drooled due to the hypotonia, low muscle tone and strength in her facial area. She had hypertonia, high muscle tone and stiffness in her lower body with her legs and core. She constantly seemed stiff and inflexible to hold as an infant. She also has microcephaly, small head syndrome. She had abnormal positioning of her toes, which eventually corrected itself. She was such a cute little baby with big blue eyes and a bright smile, yet we had concerns as she seemed months behind in her development.
At 5 months of age, Ellyse was not tracking with her eyes, or responding well to others’ voices, not rolling over and not making any baby noises or cooing. She would cry often and seemed overstimulated by sounds, sights and people. She was very small in size and weight and had a lot of difficulty with eating. We were concerned with her lack of development.
At 6 months of age, we had genetic testing done and she was diagnosed with her chromosome deletion of 3 q23-q25.31. It is a small interstitial deletion on 3q and very little information could be given to us at the time. Ellyse is de-novo, as both parents do not carry any genetic variations. The geneticists told us that the only diagnosis they could be positive about was the fact she would have developmental delays and learning disabilities. With her general health and abilities, we would have to wait and see what her future would hold. She had normal scans on her kidneys, liver and brain scans. Yet her heart scans told a different story. Ellyse has a small PDA, patent ductus arteriosus, and a more serious dilation of her aortic root. She takes Atenolol, a blood thinner, to make less work for her heart and she may require corrective heart surgery in the future. She also had wandering eyes and was diagnosed with strabismus that worked itself out, without correction or surgery.
Her milestones were very slow as she did not roll over until 7-8 months olds, sit up until 10 months, began crawling about 12 months and began walking closer to 16 months old. Her speech continues to be very delayed as she only has a handful of sounds and words such as mama, dada, dog, ball, no, yep, go, more. She uses a combination of signs, gestures and her Ipad program Proloquo2go. She often becomes very frustrated with her lack of communication abilities and the lack of understanding her. Her sounds seem very limited, yet she began babbling like an infant at about age 2 ½-3 years old, and does increase in her sounds each year. Remarkably, she has produced a few words in mimic, such as “purple”, “turtle” and “yellow” and has never repeated them again. She sometimes loses sounds, as she did not say a few of her sounds for over a year and then she will begin to produce the sounds again.
Since her diagnosis at 6 months, Ellyse began with Early Intervention Program that offered speech, occupational and physical therapy. She continued to have progress but it was slow and on her own time frame. She continues with speech therapy and does not need physical therapy at this time, yet she does have a different slanted gait. Ellyse attends public school in a developmental delay class in the Special Education Program. We are very happy with her progress and abilities. She is very happy at school and loves everything about it as she is very social and content. She is such a joy to be around as she is quite affectionate and sweet! Everyone loves her when they meet her. She loves to hug and touch people’s skin with her sensory issues. She has learned social cues to not rub strangers’ bellies anymore or rub their backs as others may not appreciate it, but it sure is cute! She is very affectionate and loving to everyone that she meets.
When Ellyse was 2 years old, she began having seizures. She would have mild absence seizures, mild trembling seizures and tonic-clonic seizures with full shaking and thrashing of the body and loss of consciousness. The seizures occurred daily and she began anti-seizure medicine, Topomax. After 3 years, the seizures lessened and she has not had a full seizure since October 2011. Remarkably, she is currently off all seizure medicine and seizure free.
At age 4, Ellyse could walk quickly, jump, throw and kick a ball and swing. She has learned to ride a tricycle and a small bike with training wheels at age 6 years old. She loves being active outside with balls, trampoline, and playing with her older siblings. She enjoys playing in the pool and is learning to swim. Her heart condition does not slow her down much as she is very active and has ADHD symptoms with a very limited attention span. She is taking dance lessons, swimming lessons and plays soccer in a youth soccer league. We really can’t slow her down as she is always very active!
Just as the doctors told us when she was diagnosed with her 3q deletion, we will just have to wait and see what Ellyse will do in her life. So far, she exceeds everyone’s expectations and we are in awe of her!