Home Izzy

Izzy

by Summerly Rowlands

Izzy was born on July 1st, 2021. She was diagnosed with the genetic condition 22q11.2 deletion syndrome on July 23rd, 2021 through a chromosomal microarray blood test.

That entire month of July was a whirlwind. Although she was diagnosed after birth, I believe she could have been diagnosed prior to birth due to an abnormal prenatal ultrasound which led to us seeing a maternal fetal medicine (MFM) doctor & a genetics specialist. Below is a synopsis of Izzy’s diagnosis, but in my other posts, you can find all the details on how it started & our 18 day hospital stay.

Health history: partial deletion of 22nd chromosome, seizures, breathing difficulties & aspiration, feeding intolerance, reflux, hypocalcemia (low calcium + high phosphorus), hypoparathyroidism (low parathyroid hormone), lymphopenia (T cell deficiency), developmental delays, cardiac anomaly, Sprengel’s deformity (shoulder blade abnormality), strabismus (poor eye muscle control), petite in stature (putting her on her own personalized growth charts), velopharyngeal insufficiency (palate dysfunction), and expressive language disorder/childhood apraxia.

Medication history: Calcium Carbonate (calcium supplement), Calcitriol (vitamin D supplement), Phenobarbital (seizure medication), Keppra (seizure medication), Ativan (seizure medication), Famotidine (Pepcid for reflux), Lactulose (for constipation), & Ketoconazole (fungal cream)

Symptoms & plan: Because Izzy was diagnosed with 22q11.2 deletion syndrome at infancy, only time will tell in regards to other learning delays or disabilities, mental health issues, social/emotional or behavioral problems, and/or autism.

  • Heart defects – None; the cardiologist interpreted Izzy’s echo (heart ultrasound) as her having an “aberrant right subclavian artery which is seen extending cranially and to the right arising from the descending aorta”… In Layman’s terms, her heart is built differently than the typical person’s (aka cardiac anomaly), but it should function just the same. We were told that her artery abnormality is very small and thin, not interfering with her esophagus or trachea. They stated it as a “normal variant of her anatomy” & the cardiologist does not see a need to follow up at this time.
  • Cleft palate – There are various concerns here with Izzy and we will not have a definitive answer until she undergoes an x-ray study dependent upon her speech therapy progress. The first possibility is that Izzy has a cleft palate not visible to the eye – this would be a hole that needs repaired underneath the roof of her mouth. The second possibility is that Izzy’s palate doesn’t move back appropriately and instead of a hole needing closed, a bridge would need to be built. Both conditions are described as Velopharyngeal insufficiency (VPI) and palate surgery will be needed to fix the dysfunction around her oral and nasal cavities.
  • Hypoparathyroidism – Izzy produces a smaller than normal amount of parathyroid hormone (PTH). She also has low levels of calcium & high levels of phosphorus in her blood, so endocrinology is heavily involved, ordering ongoing lab work & monitoring her medication doses when she’s prescribed. Ultimately, Izzy’s seizures were deemed triggered by her low calcium.
  • Thymus gland dysfunction – Izzy has lymphopenia, a deficiency in T cells, meaning she has a weakened immune system and is at risk of more frequent & severe infections. She was initially unable to receive live vaccines, but on 7/24/23 after getting lab results of improved T cells, she was permitted to trial the MMR and Varicella shots, both of which were a success! We do try to keep her away from anyone showing signs of sickness as her quantity of T cells are still low, but amazingly, her quality of T cells are actually very high. Her immunologist says she has a small, yet powerful army. Her immune system should continue to get stronger as she gets older which will be checked through ongoing bloodwork.
  • Feeding difficulties – While Izzy was mostly tube-fed (or NPO/not fed) while inpatient at the hospital, she was eventually put on a specialized diet of Similac PM 60/40 formula + Duocal supplement. The 60/40 formula was phosphorus-free to help regulate her levels & Duocal provided extra calories since she is small in weight & height. She had severe reflux which was treated with Pepcid, but she did pass her swallow study & upper GI screening. Luckily, Izzy was switched to Similac Sensitive without the addition of Duocal in October of 2021 due to continued stable lab results & the miraculous disappearance of almost all reflux. When she turned 1, we switched her over to whole milk with no issues. We also used special feeding tools to help with her oral development. In September 2022, she proved to have little to no feeding concerns and was able to graduate from her feeding team and only see GI as needed! Since then, she has been able to follow all typical food guidelines and she continues to grow proportionately and trend in the right direction.
  • Breathing problems – Izzy aspirated during her inpatient hospitalization; she was a Code Blue. She suffered many desaturations in her O₂ levels & was put on oxygen at various times. Thankfully, she has had no problems with this at home.
  • Kidney & brain function – MRI shows no brain abnormalities & kidney ultrasound shows no issues; they are functioning & anatomically correct.
  • Distinct facial features – While Izzy’s 22q11 diagnosis is not visible in her physical characteristics (to most), the plastics team originally noted that she did have a smaller than typical jaw, however, it was not small enough to need surgery. In September 2022, her jaw measured ‘neutral’ for the first time meaning that it grew to the typical size and is no longer a concern! She does have a congenital maxillary lip tie, but hers does not require revision.
  • Vision concerns – Izzy was initially diagnosed in March 2022 with pseudoesotropia, which is when the alignment of the eyes is straight, but they appear cross-eyed due to a prominent epicanthal fold. An epicanthal fold is a skin fold of the upper eyelid covering the inner corner of the eye due to a widened bridge of the nose. This makes a baby appear cross-eyed because the skin covers the inner whites. We were told that it would eventually correct itself as she grows bigger and her nose grows out. She also had astigmatism in both eyes, along with “wavy”, atypical blood vessels behind her optic nerves, though they appeared to be working as they should. However, 10 months later in January 2023, she was diagnosed with strabismus and “alternating esotropia with V pattern” which was affecting her vision due to poor muscle control. Because of this, she had bilateral eye surgery called “eye inferior oblique myectomy” in March 2023 to fix and tighten her eye muscles. It was a success! No vision concerns as of now, but will continue to follow up with the eye doctor on a regular basis.
  • Hearing concerns Izzy started hearing evaluations in July 2022 per the request of genetics to follow along with the 22q checklist. After multiple attempts, Izzy is suspected to have normal hearing (and we have no concerns at home). She will continue to see her audiologist for hopes of fully conclusive results.
  • Skeletal abnormality – At 18 months old, Izzy was referred to an orthopedic surgeon where she was diagnosed with Sprengel’s deformity. This is a skeletal abnormality developed in utero where the shoulder blade doesn’t descend all the way as it should. Luckily, Izzy has a mild case so no surgery and no therapy at this time. We will follow up with ortho as needed.
  • Developmental delays – Izzy’s development is not all-inclusive, so it’s hard to put a single month or year measurement on her as a whole. She worked hard with tummy time and exersaucer time to strengthen her muscles for sitting, rolling, scooting, & pulling herself up to standing. At 11 months old, she discovered how to crawl, and around 19-20 months, she began walking! She has therapy with a developmental specialist through Help Me Grow once a month and has evolved from a physical therapy need to speech.
  • Speech delays – Izzy began intensive speech therapy with her craniofacial team’s speech pathologist in October 2023, as she only made a few sounds (m, b, p, uh, and ah). However, she did and continues to use nonverbals and signs to communicate effectively, and she has made certain progress with her speech sessions. Izzy has been diagnosed with “moderate to severe expressive language disorder” and “childhood apraxia of speech”. With all of this, though, Izzy’s therapist says that she is ahead of the 22q curve and her receptive language is exceptional.

Izzy’s current Care Team:
Pediatrician, Audiologist, Endocrinologist, Geneticist, Developmental Specialist, Immunologist, Ophthalmologist, Plastics, & Speech Therapy
As needed:
GI and Orthopedics
Graduated from:
Feeding team (Speech & Nutrition) & Neurology
*Izzy’s care team will forever be changing depending on her needs as she grows.

Microarray results from Genetics: