Age- 17 months
2q23.1 Microdeletion Syndrome
Diagnosed at Primary Children’s Hospital
Salt Lake City, Utah USA
Briella is the youngest of 3 children. She was born at 38 weeks 6 days gestation via emergency induction because she had not grown in 3 weeks (she was my smallest baby by over a lb) and because they found some irregularities in her heart beat.
After being born she was having difficulties with her breathing so they sent her to the NICU for a few hours. She eventually got to come back and spend time with her mommy and daddy.
When she was in NICU they started talking to us about her possibly having Down Syndrome, though she did not look like the typical down syndrome kiddo to me.
Briella spent one day in the room with myself and her daddy. She got to meet her siblings and other family, But then early the following morning she started having breathing problems again and was sent back to the NICU.
It was there we found out that Briella had more trials with her body than we originally thought. While in the NICU we found out that she was not only struggling to breathe and eat she also has some heart problems (an ASD, a VSD, a heart murmur and multifocal atrial tachycardia). She had Hydronephrosis on her left kidney and a possibility of a hearing loss. She spent her first 2 weeks of life in the NICU. She learned to feed quickly with the help of occupational therapists and her heart though still having problems was ok enough to come home. She came home on her 2 week birthday and we were so happy, but we still didn’t have the results from the genetics test.
A few days later we got the results she didn’t have Down Syndrome, nor their 2nd thought Williams Syndrome. The NICU doctor told me simply she had a deletion associated with her 2nd Chromosome. I didn’t find out exactly what that meant until almost a month later.
After a month of wondering and waiting we finally saw a geneticist who told us she has 2q23.1 Microdeletion syndrome. They told us some of the possibilities of how this could affect her, gave us some resources and said we will see you in a year. I am so grateful for the resource groups I have found because they truly have been a blessing, because I was not given a lot of info about this syndrome since it is so rare.
Briella was later diagnosed with profound hearing loss in her left ear and perfect hearing in her right ear. Her hydronephrosis has cleared up and we go in next month to make sure her kidneys are still functioning well. She has had 2 seizures to date both due to illnesses and both causing her to be admitted to the hospital. So far they are controlled by medicine.
She has also been diagnosed with severe central and obstructive sleep apnea and gets to use a “BiPap” machine to help with that. She has adjusted well to it.
Briella will turn 17 months old on 2016’s Microdeletion day. She is such a sweetheart, she loves to smile and she is super social. She loves her big brother and sister. Through help from her various therapists she has made some great leaps and bounds but still functions at about a 6 month old level. She doesn’t sit well by herself and still take a bottle 99% of the time.
We are so blessed to have her in our life. She is very small for her age, she has a tiny head, hands and feet. Her favorite thing is to cuddle with her family.
We love our littlest princess! I will not lie, not knowing exactly how this will affect her scares me, but I am grateful to know at such a young age about what she has and I’m excited to see what the future holds for her and how she will grow in the coming years!
Briella truly is a blessing to our family!