Avery Noel Thompson
CS Type: 2
Height: 29 inches
Weight: 21 pounds
A little about me,
Avery is the sweetest, happiest child and our angel. She loves her family and is always ready with a smile. Avery is our first child. She was born at 37 weeks, via C-section due to Mom’s placenta previa. The pregnancy was normal. We had a little scare with the tetra screen test, but the level 2 ultrasound showed everything to be correct. We had biophysicals throughout the last trimester, and no apparent signs or any issues were ever noted. She was 6 lbs. 1oz. at birth and had excellent apgar scores. She was taken to the NICU to receive some oxygen for the first couple hours, but was breathing nicely on her own after that and released to Mom on the 3rd day. Upon discharge from the hospital, the hospital physician remarked that she had puffy feet and advised us to make sure we get our pediatrician to test her for Turners Syndrome and to get a good look at her eyes because he had been unable to do so. We did the test for Turners Syndrome a week later and were relieved when that came back negative. At this point, we had been seeing her pediatrician once a week to keep an eye on her weight gain, and finally on week four the doctor was able to perform a good eye exam. The doctor immediately referred us to a pediatric ophthalmologist, whom we saw the following day. We were crushed and scared when she told us Avery had bilateral cataracts. At four and five weeks of age, she had surgery to remove the cataract in each eye. She was a star patient and did really well with the surgeries and recovery. Once the bi-lateral congenital cataracts had been identified, we were referred to Genetics and she was tested for everything under the sun. She had chromosomal tests run and repeated, mitochondrial tests, and metabolic tests. (I have to mention that Avery is not the easiest child to draw blood from — because she was so small, no one could ever find her vein and it was always an exhausting and excruciating process.) Anyway, after all the tests nothing had turned up an answer yet, and we were now looking at some pretty rare syndromes to test for. Our genetics team mentioned COFS and thought that we should probably test for this if nothing else revealed itself. At this point, all of her specialist had been at A.I. DuPont, so we asked for a referral to Children’s Hospital of Philadelphia to see someone in genetics there. We had a consult with a team there, we mentioned that blood had been drawn to test for COFS and they concurred that all the tests had really been run that you would logically pursue. If nothing came out of COFS, then the only thing they would consider looking at was something called Micro syndrome. The blood was drawn for COFS in February of 2006. In August of 2006, we received a call from our Genetics Counselor to let us know that the test results were finally back and they confirmed that Avery had Cockayne Syndrome, Type 2 or B, which is the congenital form. We were stunned. We honestly didn’t believe we would ever have an answer. But, we were glad to have it. This is not the information anyone wants to receive, but we felt a sense of peace that we finally knew the facts.
As mentioned above, Avery has had many physical challenges including cataracts at birth, which were removed. As a result, she has worn contact lenses since 3 months of age. She receives visual therapy every other week and although she was diagnosed as having Cortical Visual Impairment, (which is not progressive, but can affect how clearly she sees at different points in her visual field) she has continued to develop her vision exceptionally well. Her control, distance and tracking have progressed beautifully and she loves sit in her highchair and track Mom as she moves around the kitchen! She has severe muscle contractures in her legs rendering her unable to sit on her own, crawl, stand or walk. She loves to roll around on the bed; however, she really wants to sit up and does what we call her “abdominal crunches” trying to pull herself up. She has received physical therapy and occupational therapy twice a week since she was 3 months old. We are excited about an upcoming surgery in August 2007 to release her hamstrings, adductor muscles and heel cords, because this will increase her range of motion and give her a chance to have the mobility she is working so hard to achieve. She is capable or reaching out and grabbing objects, but not for long periods of time. She will usually drop them after 5 seconds or so. Avery is unable to talk yet, but communicates in her own way. Prior to her diagnosis, 2 separate MRI’s of her brain revealed a deficiency in white matter or “demyelination”. As a result, her mental abilities continue to be limited and she behaves similarly to a 3-6 months old. That being said, Avery is very aware of her surroundings. She remembers people who interact with her regularly and remembers certain toys and sounds she likes. She will anticipate when playing certain games with Mom and Dad. Her latest achievement is clapping her hands together to play pat-a-cake, which she learned from Grandma. Avery had a g-tube placed in Oct. 2006 because she just did not eat enough on her own, and had a fundoplication performed to address her problem with constant reflux. She is very happy that Mom decided to stay home with her since last May. She still attends daycare or “school” as we call it, once a week for about 6 hours and is with the same caregivers she has had since she started going at 3 months of age. This works out because the whole staff at this facility just adores her and the nurse’s office is right next door, so she tends to her eye care and tube feedings when she is at school. Despite her obvious issues outlined above and her potential for issues, Avery has never really been sick. She has never had a cold or an ear infection. She has had one urinary tract infection at 9 months, and she was in the hospital for a week at 11 months due to a stomach bug. Other than that, only recently she has had some seasonal allergies.
She is very social and loves to be held and to listen to people talking, reading or singing. Her favorite activities are playing in her exersaucer, highchair or playmat. She loves the water and especially the spray nozzle in the kitchen sink and in her bath. She also loves to pet her dog, Jackson. But more than anything else, she loves being held and to grab peoples faces and hair. This really makes her laugh. She loves her own crib, but she doesn’t like to take naps — usually one nap a day for about 45 minutes, and she wakes up several times throughout the night. She does not love having her teeth brushed, getting her nose suctioned, or getting blood drawn! She spends lots of time with her Grandma Lovell and Great Grandma (Mom-Mom Judy) who come over and keep Mom company, as well as Grandpa Lovell and Uncle Mark and Aunt Teri who all live nearby. She just took her first plane trip ever to Memphis, Tennessee to visit her Aunt Michele, Uncle Jeff and cousins Cate and Madeline who she loves dearly. She just loves to visit her Grammy and Papa Thompson in Ottawa, Canada who sing special songs to her and make her smile. She’s lucky to have all the Thompsons including her Aunts, Uncles and cousins on her Dad’s side who live there. She misses cuddling with them and she wishes she didn’t live so far away, but she is going up for her 3rd trip there this August. Avery can’t wait to meet her CS friends in Boston at the upcoming retreat in October. Avery has a wonderful and unique personality, like any CS child, and she shows amazing resilience, persistence and commitment to achieve as much as possible along her journey. Avery, like all children, is so special and beautiful in her own way and an absolute joy in our life. If you ever meet Avery, her smile will melt your heart. She is pure love.
Thank you for reading Avery’s story!