Izzy was born on July 1st, 2021. She was diagnosed with the genetic condition 22q11.2 deletion syndrome (DiGeorge 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), and petite in stature (putting her on her own personalized growth charts)
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 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 – None; this was checked by the plastic surgery team multiple times due to the possibility of cleft not being visible to the eye. No need to follow up at this time.
- 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 is phosphorus-free to help regulate her levels & Duocal is extra calories because she is small in weight & length. She had severe reflux which was treated with Pepcid for the burning sensation, but she did pass her swallow study & upper GI screening despite that. Luckily, Izzy was switched to Similac Sensitive without the addition of Duocal in mid-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! She is now able to follow the typical toddler food guidelines and will no longer need to see nutrition & speech. Though she is of small stature, she continues to trend in the right direction on her growth charts & everything is proportionate. In July 2023, she hit 20 lbs and 31.75 inches putting her on the typical growth chart for both weight and height for the first time ever! She eats EVERYTHING! Izzy will only see GI as needed.
- 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 to the eye, the plastics team originally noted that she does 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. Plastics will follow up again in September of 2023 for a speech evaluation.
- 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 3 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 about once a month and has evolved from a physical therapy need to speech.
- Speech delays – At 2 years old, Izzy only says the word “mama”, but she makes sounds and uses nonverbals and signs to communicate everything else. With her pointing, head nods, and emotions, she can hold an entire conversation. While Sterling and I have decided not to introduce a communication device at this time, we will continue to work with her developmental specialist in this area. She is also set up to have a speech evaluation in September 2023 with her plastics team.
Izzy’s current Care Team:
Pediatrician, Audiologist, Endocrinologist, Geneticist, Developmental Specialist, Immunologist, Ophthalmologist, & Plastics (with speech)
GI and Orthopedics
Feeding team (Speech & Nutrition) & Neurology
*Izzy’s care team will forever be changing depending on her needs as she grows.
Microarray results from Genetics: