Greta-

Greta was born April 2018.  She was a sweet happy baby.  The first year of her life was mostly uneventful.  She started crawling at 7 months.  At 8 months she started saying momma and dadda.  At 15 months she took her first step.  Her speech slowly progressed, mostly communicated through babbling and pointing.  At 2 years she started speech therapy.  Her therapist worked very hard trying to mold her sounds into complete words.  She even did a lot of oral stimulation test.  Although she did make some improvement in her first year of speech therapy, we still felt like a piece of the puzzle was missing.  She was diagnosed with mixed receptive-expressive language disorder and articulation disorder.  Everyone kept telling us to just give her time, that she would start talking when she is ready.  We were optimistic and patient with her progress.  

When she turned 3 we made the decision to transfer her speech therapy to a clinic that was highly recommended to us.  We were pursuing evaluation for apraxia of speech.  Her speech intelligibility was 10-20% and only spoke 80 words at 3 years old.  Her new speech therapist recommended adding occupational therapy to her treatment plan.  After her occupational therapy evaluation, we found she had low muscle tone, sensory defects and below average with her fine and visual motor skills.  When she turned 4 we also added physical therapy to her treatment plan after multiple falls.  She was found to have low muscle tone, poor core development and coordination.  She worked very hard every week with speech, occupational and physical therapy.  She did make great improvements.  However, we were still trying to find the missing puzzle piece. 

After several evaluations at the Center for Disease and Disability we still didn’t have any answers.  It was then advised to have her see genetics.  We were looking forward to this referral as we felt this was going to give us the missing piece of the puzzle.  Unfortunately, the first available appointment was a 12 month wait.  During this wait, Greta saw a Neuromuscular specialist.  She too could not determine the cause of her symptoms. She understood the frustration with the long wait to see Genetics.  She offered to do the basic chromosomal microarray analysis blood work.  

Two days before Christmas 2022, we got a call from her Neurologist with her CMA results.  It was identified that she has 22q11.21 deletion involving the AB deletion.  She told us these findings explain her hypotonia, speech and fine motor delays and facial features.  She explained that this chromosomal deletion syndrome can be associated with a spectrum of phenotypic manifestations which may include recurrent infections, structural hear and kidney anomalies, hypocalcemia, thyroid malfunction.  Every individual may manifest differentfeatures, but it is important to do screening test which include an Echo, blood work, renal ultrasound. The results came back normal except her Echo.  She had to complete a CT chest for further evaluation.  After the CT we were told her she has a right aortic arch with aberrant left subclavian artery.  Meaning her heart was structurally different but had normal function.  

In January 2023 Greta was evaluated by the Cleft Team at UIHC.  We were told they suspected Greta had Velopharyngeal Insufficiency (VPI).  After additional testing it was confirmed,she had VPI.  Surgical intervention was advised to correct the VPI to help with her speech.  January 2024, she underwent a pharyngeal flap procedure.  The recovery process was not easy.  Greta had to be on a pureed diet for 3 weeks, soft diet for 2 weeks then could resume normal diet.  She was very strong and brave throughout the procedure and recovery.  She really enjoyed helping us blend her food.  It has now been 10 months since her surgery, and she has made tremendous improvement in her speech.  She works very hard every week with her school speech therapist and private speech therapist.  

Greta continues to show her love and happiness throughout this whole process.  She is always up for the challenge and overcomes it with ease. She went from saying a few words tonone stop talking.  It is very hard to get a word in when talking with her!  She loves to learn and teach, sing and dance, and spending quality time with her family. She has a bright future ahead of her!