Living Life Unbalanced

Elyce has a rare genetic condition.  She has 3 chromosomes that are affected:  4, 7 and 18. She has an unbalanced translocation involving chromosomes 4 and 7. This genetic variation is considered de novo (new to Elyce); not inherited from her father or I.

4q35.1-q35.2 (deletion)

7q34-q36.3 (duplication)

18p11.21 (duplication)

Chromosomes are essentially the instructions that our body uses in order to develop and grow appropriately.  Genetic variation such as losses (deletions) or gains (duplications) of chromosome material can be normal variants, but also can be pathogenic and impact an individual’s health.  

Translocations like hers are rare.  There have been no known reports of individuals with the exact same genetic alteration in the medical literature.  This makes clinical information and correlation very challenging. Thus, it is impossible to know what the future holds for Elyce... so we take one day at a time! 

Elyce currently experiences global developmental delays, hypotonia, sensory aversions and feeding difficulties. She is far too young for a diagnosis of learning delays, intellectual disabilities and autism, but she is at an increased risk for development of these in the future. We have had many diagnoses, procedures, labs and imaging studies.

What we know so far...  An MRI indicated slight brain abnormalities (mild prominence of the subarachnoid places of the supratentorial brain, which we were told was the most common diagnosis for a child with a larger head size).  A 48 hour EMU ruled out seizure activity although was abnormal possibly related to her developmental delays. Her vision abnormalities include high myopia and a myopic astigmatism; she wears glasses. Her eyes also had right extropia and a v pattern that we have surgically corrected once.  A swallowing study indicated laryngeal penetration with improvement in thickening her liquids, we no longer have to thicken our liquids! She has passed an ABR and hearing screen. A scope performed in the ENT’s office diagnosed her with laryngomalacia, a second scope showed improvement and we have since outgrown the diagnosis.  EGD with biopsies showed her reflux (requiring ppi, lansoprazole) is well controlled and inflammation was not present. An echocardiogram an EKG showed an innocent heart murmur related to a pfo (patent foramen ovale). A kidney scan was performed and kidney abnormalities were ruled out, but did show a slight size discrepancy. Coagulation studies ruled out bleeding disorders at this time.  A pelvic x-ray showed her hips are starting to come out of socket, but an orthopedic evaluation was hopeful it was due to low muscle tone and may not need surgical correction in the future (especially with her progress). We utilize sure steps for stability and to correct a pronated stance.

We monitor Elyce very closely.  We check in with our primary pediatrician and specialists frequently.  Thankfully we have been signed off of Neurology, Cardiology, and ENT. We continue to see a GI Feeding Team (Gastroenterologist, Nurse Practioner, Psychologist, Registered Dietician and Occupational Therapist), Orthopedic, Rehab and Developmental Physicians.  We also utilize all kinds of therapists to help provide her with the most interventions and experiences to lead her into a life full of independence!

We make goals and continue to meet them.  While we aren’t crawling, standing, walking, talking or feeding ourself we see growth every single day.  To think at one point we did not have an interest in toys, rolling over, tummy time or sitting ourself up.  We are now doing all of those things and more! We’ve started scooting on our belly, bearing weight on our legs, learning sign language, vocalizing sounds and beginning to show interest in feeding ourself.  We are also in the process of receiving a gait trainer for walking and standing.

  

She currently receives Occupational Therapy, Physical Therapy (aquatic and land), Speech Therapy and Feeding Therapy.

Elyce attends a Development Center twice a week.  The first day she attends a toddler class where she participates in (music class, gross motor, snack, speech and fine motor) followed by a private land physical therapy session.  The second day she receives private therapy where she works on speech, occupational, feeding and aquatic physical therapies.

We utilize Infant Toddler Services weekly.  We receive occupational therapy, speech therapy and meet with a dietician.  They come into our home and help us navigate through our “everyday life” all while coming up with innovative ways and solutions in working with Elyce at home.

We work with an occupational therapist at the hospital every other week dedicating our time to feeding therapy.

Last, but not least, we work hard at home as a family.  We focus on our abilities (not disabilities). And most importantly... we LOVE.

Elyce completely has our hearts and keeps us on our toes.  We frequently find ourselves crying more tears of happiness and joy (because of her growth and progress) over tears of fear, worry or mourning a life we had initially planned for her.  She has opened our eyes and our hearts to the world in the best way we could ever imagine...leaving our compassion enhanced in unspeakable measures. We are so thankful for all of our opportunities, therapists, providers and their services.  We are thankful for the small things. And most of all we are thankful for her.