Ana was born as a seemingly healthy child, apart from umbilical hernia she had at the birth, but soon the first problems arose. Because of her failure to thrive we were sent to the specialist of early childhood development and she suspected there was a problem with her heart and referred us to the cardiologist. She was three months old when they discovered she has a severe congenital heart defect that requires an open heart surgery.
Next three months we did everything we could to make her stronger so she could survive the operation which was successfully performed at the age of six months. After that, I thought “Well, we were lucky and now everything is going to be alright”. Well, I didn’t have a clue! Two months after the heart surgery we discovered she had an urinary infection acquired during hospital stay which was resistant to all oral antibiotics, so we were referred to a nephrologist to give her the treatment. After some analysis and ultrasound we discovered that Ana was born with only one kidney. Luckily, the doctor gave her the right therapy and the UTI was healed without consequences, and we started to have regular check-ups to monitor the state of that one kidney.
The nephrologist referred us to a geneticist to see what the cause of her heart and kidney malformations was. Geneticist did the karyotype which was normal and that was it as far as they were concerned.
After my maternity leave ended, I went back to work and Ana started day-care. After that she started to have frequent respiratory infections which several times ended up with pneumonia and hospitalisation. After the third pneumonia her doctor forbade me to send her to day-care with the words “Next time she may not survive”. She was diagnosed with asthma and got the prevention and inhalations in case of a cold. Her paediatrician recommended supplements and probiotics to boost her immune system and a year later she started to go to kindergarten and everything seemed all right. Until her preschool it looked like we got some rhythm and with regular check-ups with cardiologist, nephrologist, pulmonologist and orthopaedic (for her pronation of the feet) Ana grew as a typical and happy child.
When she was around 5 years old, I noticed she had some hearing problems and after examination she was diagnosed with conductive hearing loss. We wanted to address that problem prior to school and we went to see an ENT at our children's hospital and they’ve decided that the best course of treatment would be removing her adenoids. At the same time her umbilical hernia was surgically repaired (to avoid multiple general anaesthesia, both operations were done at the same time and both went great!). The problem was that after adenoidectomy Ana lost her ability to speak. Every time she tried to say something, all the air went through her nostrils and her speech was incomprehensible. Only then they saw she has a short and hemi paretic palate. That was the breaking point when, looking for an answer why someone after adenoidectomy has hyper nasality, I’ve stumbled upon microdeletion 22q11.2. What a revelation!
Reading about 22q deletion syndrome I saw that all of her problems and symptoms can be explained by it. When I’ve asked one of her many doctors, could that be the answer, she said “It could be” and referred me to a geneticist (again). In the meantime there was a new geneticist at the clinic and when she heard about the symptoms and looking at her facial characteristics she agreed it is 22q DS, but it was only a working diagnosis because it was not proven in the lab. At that time, all I could think about was “If I knew she had this syndrome I would be more vigilant about her health and I would never ever let them remove her adenoids!”
The consequence of that surgery was two years of intensive speech therapy just to improve her articulation so we could understand her. Because of her problems with speech she withdrew and had great problems with socialisation.
During her primary school she had a wonderful teacher who really tried to implement all the recommendations about educating a child with 22q DS which I gave her (being a school psychologist I knew how important it is to give the child the proper support and I’ve read everything I could lay my hands on about accommodations needed for 22q child in school). At the same time I fought with the system to get her a definite diagnosis and it took us 3 years to get it (thanks to one amazing mother of a child with some other rare disease but that’s a different and long story).
When she got to secondary school, problems with peers started to get more serious and her learning difficulties were becoming more and more prominent, even though her intellectual abilities were intact. Those were very hard years for both of us, because studying became a battlefield and a torment for her. Even though I’m a school psychologist, I couldn’t quite grasp how profound and deep her learning difficulties were.
For a few years teachers refused to accept she has difficulties (“because she doesn’t look like she has them”) and finally when she was in 7th grade we managed to put her on IEP for mathematics and physics. One of the things I regret the most is pushing her so hard to study, but on the other hand it was needed at the time because she wouldn’t be able to go to a high school she wanted if I hadn’t done that. Unfortunately, her difficulties were not so grave to get the benefits during enrolment and she was in the same boat as any other child who didn’t have any problems. She needed to have good grades and good score on final exam to get to the art school (that was something she dreamt about for years).
Knowing that 22 DS could cause psychiatric problems, when she hit puberty I took her to the psychiatrist (so the doctor can see how she functions prior to development of any symptoms). For some time everything was ok, we had regular check-ups, and then covid happened. She was in the first year of high school, and fearing her catching covid I’ve pulled her to online schooling. And little by little her mental state started to deteriorate, and we could not access a psychiatrist because all of them were assigned to covid centres (working with others only if it was an emergency).
Being a psychologist, I’ve thought I would be able to handle her more and more aggressive outbursts and self harming and that I could talk her through that. Boy, how I was wrong! I finally saw how serious the situation was when she had a complete psychotic breakdown with intrusive thoughts and actions.
After that event, we were able to access a psychiatrist who administered pharmacotherapy and since then she is relatively stable. She is in her final year of high school and she’s doing well in school and plans to continue her education at the Academy of art. She has her good and bad days, but all in all she is functioning well.