Sophie has a deletion in the short arm of chromosome 5 starting at bands 13.3- and is a total 32.42 mega-base deletion. Her deletion is sporadic or “de novo” deletion which is not caused by heredity. There are many physical symptoms associated with CDCS Sophie has the following:
Hitch pitched cry caused by laryngeal structural differences, downward slant to the eyes, low birth weight and slow growth. hypertelorism or wide-set eyes (abnormally increased distance between two organs or body parts), flat nasal bridge, microcephaly (smaller than normal head), hypotonia (low muscle tone), epicanthic fold (a skin fold of the upper eyelid, covering the inner corner of the eye), gastroesophageal reflux, constipation, respiratory complications, strabismus (a condition in which the eyes are not properly aligned with each other), down turned mouth, micrognathism (undersized jaw), frequent sinus infections and cardiac defects.
I give Sophie the following supplements: DHA in liquid drops to help with brain development, Vitamin B complex in liquid, Vitamin D in liquid, Vitamin C (crushed) , Probiotics and Cod fish liver oil mixed with yodotanico for immune system health.
Sophie has had a weak immune system since birth, she has asthma and had chronic RSV for which she received a vaccine until she was 2. We cannot get through a day without nebulizer treatments, they save her life. She is always congested or “junky” as I like to say but she is a good cougher and is able to expel it when she becomes to flemy. Sophie aspirates liquids so I use “Thick it” to thinken her drinks and even some purees. She drinks her liquids via straw. She is learning how to chew but has weakness and lack of oral motor control. Pediasure and Boost are her primary source of nutrition but she is also now eating soft solids like rice, yogurt, eggs etc.
Sophie had surgery at 17 months to correct strabismus in both eyes and to remove a cyst on the exterior of her left eye. Her biggest health challenge is sinus infections. She had a partial adenoid removal and endiscopic sinus surgery at 22 months old. Her sub-mucous cleft palate did not allow them to remove her entire adenoids for fear of choking. She also has a bifid or cleft uvula. Her infections somewhat improved after the surgery in the sense that they are a bit more spaced out. Only few antibiotics actually work with her, from over exposure to too many antibiotics, very scary! When she gets really sick she either get’s antibiotic via injection or is admitted into the hospital to receive it via IV. We sometimes use a nasal irrigator to administer antibiotics as this seems to be more effective with her and we typicaly use antibiotics not orally approved for children.
Sophie has moderate sensorineural hearing loss and wears bilateral hearing aids. The left side of her brain is a bit slower than the right. The right side of her body is weaker and it takes her a little longer to process information. She suffers from sporadic high fevers, reflux, purple or blue hands feet or lips and constipation which are very common in children with CDC. She had a PFO (whole in the heart) that recently closed. She has Mild pulmonary Valve Dysplasia and recently showed more leakage than before and her Bicuspid aortic valve showed more thickening to the valve. She will need to be monitored closely especially now that she is becoming so active.
Her liver has been affected causing elevated liver enzymes and even viral hepatitis at one point due to viral infections and over exposure to medications. She is followed closely by GI for her liver, reflux and constipation. Sophie was also born with CMV (Cytomegalovirus) a virus that affects 80% of adults with no symptoms but is deadly to newborn babies. The good news is she is just a carrier and has no symptoms, although they suspect this is what caused her hearing loss.
Sophie is getting stronger everyday, it’s a slow process but there is progress. She does have set backs when she get’s sick as there is no such thing as a simple cold for her but she bounces back. The geneticist and neurologist are very pleased with her progress and are amazed at how nicely she is coming along with all she has had to overcome.
Update*****5/2013. It’s been a difficult year for us, Sophie’s sickness had become critically worse. We discovered that her sinus disease worsened and required immediate intervention. Sophie underwent massive sinus surgery three weeks ago. It was a life saving operation, we pray that this will open the door for her to begin recovering. She also had her lungs cleaned out, tubes put into her ears and some other procedures. We had an army of prayer warriors to get through the surgery but she did absolutely amazing.
Sophie had her evaluation with Easter Seals Early Intervention when she was 2 months old. I had done so much research I knew what therapies would be beneficial to her . So we were approved for two 30 min sessions each of physical and speech therapies each week. After having no luck for three months looking for an in-home provider I decided I would take her to a facility which worked out great. Soon to follow was occupational therapy and a few months later feeding therapy. I have to say from the beginning we had such a great team!
Sophie’s progression has been slow but steady she goes through spurts of development where she learns several new things then her progression slows down and it happens again every few months. She is now 3 years old and developmentally 8-14 months. Sophie is non verbal at this point but her comprehension is amazing. One of her biggest struggles has been with fine motor skills, she only started using her hands at a year old but she is coming along nicely. Around the age of two Sophie’s health became a battle with one infection after another so we decided to have in-home therapy.
Kim our OT was the only one of the therapists able to continue with us after switching to in-home and we are very happy she did. Jamie took over PT and helped me get my girl walking. Bridgette took over for speech and feeding therapy, she is awesome! She taught me so much and helped me relax when it came to feedings, it was refreshing to have a new approach to communication and feeding. Pam started special Instruction and has been a blessing and a wealth of information to help me along my journey. I have nothing but good things to say about them all. Early Intervention ROCKS!!!!!!!!
A few of Sophie’s milestones…
rolling over 4 months,
laughing out loud 5 months,
sitting & crawling 17 months,
caught up and slowly but steadily gained weight around 18 months, now at 3 weighs 24lbs measures 36″ long
pull up to stand 19 months,
first steps 32 months,
walked 36 months,
started to babble 43 months.