Rizkyana Casonato

@rizkyanacasonato
I am a proud mamma of Dario Omar Casonato, a heart warrior and 22q microdeletion fighter. Born in Indonesia, brought to Italy for a better treatment, Dario now is a happy 4-year-old kiddo.
Community Voices

Love Doesn't Count Chromosome

In 2016, somebody I knew from a support group in Facebook contacted me for asking my permission to use my son’s photo in a post about genetic/chromosome disorder: 22q11.2 deletion syndrome or widely known as DiGeorge Syndrome. I hardly said yes, because deep inside I am not ready to share this news to the world, I am not prepared enough to the judgment people will throw at me and my son, but then I realized that I’d never be ready.

In 2015 Dario was born and we had been hit by some major storms: Heart attack, critical conditions, Open heart surgery, respiratory failure, post-op severe infections, pneumonia, sepsis. Then we were informed that he has a complex and extreme Congenital Heart disease: Tetralogy of Fallot with Pulmonary Atresia, Mapcas, ventricular septal defect plus subclavian lusoria. Long story short, we almost lost him in a way we never could even imagine. You can read it here. Huft, these were too much for us as new parents but turned out that this condition is just the tip of an iceberg.

Back in the end of March 2015, after Dario’s first 10-hours open heart surgery to save his life, surgeons informed us that Dario doesn’t have thymus gland (a lymphoid organ situated in the neck of vertebrates which produces T-lymphocytes for the immune system) and that lead to the suspicion that he has a chromosomal disorder 22q11.2 deletion syndrome. We tried not to faint and maintain our sanity while pulling ourselves together. “They aren’t sure,” we said, there’s still a possibility that surgeons might have missed it (thymus gland). In fact, we were wrong.

In July 2015, Dario was admitted in the hospital again to check his overall condition and as we expected, Medics suspect he has ‘more than just a congenital heart disease’. I, my husband and Dario had our blood drawn to be checked in the laboratory for a genetic test called FISH (Fluorescent in situ Hybridization) test, and a month later we received our results. While me and my husband wondering if either or both of us got genetic disorders or chromosome disorder or anything related (our results came out as normal by the way), we were pretty much certain that Dario has something ‘unique’ in him. It turned out to be true.

Dario has a positive result in a FISH test that means he has some or microdeletion in his chromosome 22 in the long arm of q11. In other words, He’s missing a small piece of genetic information in his chromosome 22. His case is de novo in terms that it is non-inherited. If you asked me back in 2015, I don’t know what the heck is this shit and why my son is crippled by this so-called microdeletion. Now that I am wiser and calmer, I can say this deletion change the way I see the world in general, imperfection is a part of nature!

, what is it actually?

This or also known as DiGeorge syndrome and other names based on the symptoms is a genetic/chromosome disorder in which chromosome 22 missed or got some amount of deletion in a specific location known as q arm 11.2. Fyi, in humans, each cell normally contains 23 pairs of chromosomes, for a total of 46, Twenty-two of these pairs, called autosomes, look the same in both males and females. The 23rd pair, the sex chromosomes, differ between male and female. Female has two copies of X chromosome while the male has one copy of X chromosome and one copy of the Y chromosome. So the missing part of Dario’s gene is actually in the latest pair of non-sex chromosomes, which affect some body features. This deletion occurred as common as 1 in 3000 -6000 live births and the range of associated clinical features are broad and variably expressive in each person. These features include immunodeficiency, congenital heart disease, palatal defects, hypocalcemia, #Dysphagia, renal anomalies and developmental disabilities (Mcdonald-McGinn et al., 2015). About 90 percent cases of this syndrome occurred as an effect of new mutation of embryo early development (de novo), while the rest 10 percent are inherited from parents. It is said that 22q could have more than 180 symptoms.

As a genetic/chromosome disorder, THERE IS DEFINITELY NO WAY TO PREVENT AND CURE this condition but multidisciplinary approach including a thorough medical check-up and care management. Prognosis depends solely on how severe the symptoms each patient has, the mortality rate can be high for and immunity problems even those who are missing the thymus gland and the absence of T-cells can die prematurely. Nonetheless, if all symptoms are managed well, life expectancy can be even normal.

How it affects Dario, Does he need care management

Frankly speaking, never have I expected that this deletion can cause so many defects in Dario’s body features, because as the genetic and chromosome disorders, any person who is affected can’t be compared with the others, in a sense that certain common symptoms might be absent and replaced by other rare symptoms. There is no way to know what symptoms your kid might have, you just have to wait and see because this deletion can affect different parts of organs. You know, so basically you have to be ready for every freaking possibility.

So yes, we follow 22q care management protocol.

Heart and Lungs

In Dario’s first year of life, as you know we learned that he has a congenital heart defect which also affects his lungs. His lungs perfusion is 37 percent on the right lung and 63 percent on the left lung respectively. This lungs problem could bring a high risk for Dario especially during the intervention and infection episodes. I have to say, Dario’s heart and lungs are the ones that got the severe impact and it makes me worried to death. I just hope that his body bounce back and he could go through all procedures and medical intervention needed to mend his heart and lungs. So far Dario has gone through two times open heart surgery (central shunt in IJN March 2015 and Unifocalization with homograft patch in Padova University Hospital in September 2015) along with numerous times of catheterization, angioplasty, and scintigraphy. He has more open heart surgeries to come as soon as next year because his heart and lungs are still far from being ‘fixed’. He has also lots of hypoplastic arteries as well, that compound his heart management.

Dario’s heart and lungs would never be as normal as it can be and he should be monitored for the rest of his life. We just hope that we won’t have that fatal episode where he has to get a #Transplant either for his heart or lungs.

The absence of Thymus gland

As I said above, we knew that Dario missed thymus gland from the surgeons in Kuala Lumpur (IJN) While they were fixing his heart through open heart surgery, they found that Thymus gland was nowhere to be seen. The thymus gland is normally seen in between the lungs behind the sternum, and for people with 22q could have lots of problem in their thymus but the worst is its absence.

So what is it this thymus gland, why looks like this is so important? well, the thymus gland is one of a kind, its function is pretty crucial for babies and kids for its assistance in fighting unwanted bacteria, virus, fungi. Human’s immune system is guarded by the cellular immune system in which lymphocytes play a great role. There are two lymphocytes to support this system: T-lymphocytes and B-Lymphocytes in which both originated from stem cells in the bone marrow. The thymus is significant in the development of T-cell for its control over the maturation of T-lymphocytes. Some T-lymphocytes (cytotoxic T-lymphocytes) is greatly known to be able to directly kill viruses. Back to the human immune system, T-lymphocytes is helping B-lymphocytes to develop into antibody-producing plasma cells. People who are affected by 22q deletion syndrome may have poor T-cell production due to Thymus anomaly and as the result, they are prone to viral, fungal and bacterial infections.

Prognosis seemed bad at the beginning of this diagnosis but soon we learned from the immunologist that Dario’s body compromised to this condition and T-cell production is even as close as in normal kids.

He is now still under control and should be doing blood and other immunological tests once in a year.

Last September when we decided to enroll him to pre-school, he coped with the school environment quite well but got three times of infections, a combination of bocca and rhinovirus and lead to bronchospasm and bronchiolitis. Doctors were surprised that he was doing just fine, though with blocked respiratory airway and plummeting Spo2, and they decided to keep him in the hospital for screening and observation. We came home on the 5th day and he is now doing well at home.

Left Renal Hypodysplasia

At the age of 6 months old, right after the second open heart surgery, through nephrological screening, we knew that Dario’s kidney got some anomalies, one from two of his kidneys was underdeveloped and got a risk of totally dysfunctional. A year after that, through the same test and scintigraphy, turned out that left kidney was definitively dysfunctional, but it was still there and allegedly shrinking over time. I can say, this made me so mad and I was crying for days knowing that he should be living with only one kidney for the rest of his life and the fact that he still needs many times of surgery later in the future. You know, kidneys get injured so easily during the medical intervention and it got me crazy.

Some months ago, we did a control check-up of his kidneys and we got some good news: his right kidney that now acts alone is getting really big, even bigger than most kidney in normal kids. This kidney now doing a full-time job to cover the responsibilities of both kidneys. The left kidney though shrinks slowly, but nephrologist told us that it won’t be surprising if one day this underdeveloped kidney could make its come back, there are some cases of like this on their record. Now we can be calm for a moment.

Enamel hypomineralization/hypoplasia

If you asked me, which part of Dario’s care management that depresses me so bad, I’d answer it without hesitation, it would be his teeth. His damn teeth that none ever believed in me that something seemed fishy about his teeth’s overall appearance, at first. In the first year of his life, I contacted his pediatrician to consult whether or not he needs his teeth checked, a pediatrician told me that now it was not necessary for him because other things are having more urgency. I said, well okay, then at the age of two, he was having bad times of eating, wanting only to drink milk and other liquid food. I was having a great suspicion over his teeth, but I brushed it under a rug.

February 2018, eventually we managed to get an appointment with one renowned pediatric dentist in our town and she referred us to one center outside the town. My suspicion was on point, Dario had to do a small surgery to extract 8 of his frontal teeth and fix the rest of them. In May, Dario finally got surgery to remove his broken teeth and fix the rest of his teeth. He has a mild-severe enamel hypomineralization that makes his teeth prone to having tartar and tooth decay. His coming permanent teeth could be having the same problems so he needs an annual check with a specialist.

For now, over this problem, I am determined to find a good solution through medical breakthroughs like stem cells fillings and sort of that, but deep down I hope Dario’s permanent teeth will be at least 80 percent as normal as in other kids. Finger crossed.

#Scoliosis

22q never fails to surprise me and it’s freaking annoying. At the age of two, one physician stated that he had a great risk of developing quite severe scoliosis, and yeah, again it turned out to be true af.

Scoliosis is a spinal deformity in which the vertebrae has lateral curvature and certain rotation. The main causes of this spinal deformity can be from congenital, neuromuscular, syndrome-related, idiopathic or even secondary reason.

December 2017, we got an appointment with a pediatric orthopedic and he looks awed that Dario’s backbone condition seemed unreal for kids like his age, but he said, we were going to observe and we had to come back in October. In October though, it took like less than 5 minutes to decide that Dario needs a brace, orthopedic brace. His backbone is curved, kinda crooked to 20 degrees compared to the normal backbones. “We can’t wait any longer, he has to wear this bustino (braces) for 18 hours a day along with a special therapy session with a physiotherapist.” 18 hours, geez, this made me shiver, 18 hours of managing your kid wearing the most uncomfortable thing on his body. He’s gonna cry a river or maybe a lake for this.

In addition, the orthopedist told us that it wouldn’t be a surprise if one day Dario has to go through a spinal surgery due to his scoliosis severity. But, he also stated that the risk depends on how his body reacts to the braces, braces itself can reduce the risk up to 50 percent.

Developmental delay and cognitive difficulty

Dario is having a developmental delay, this is a fact but he is surely catching up. Upcoming January he will be 4 years old and yet he only speaks some words equal to a 2-year-old baby. Am I worried? sure yes, Am I upset? No. To be honest I keep doing my best to help him catch up his delay. You know, some days I see other people’s kids and wonder why Dario isn’t like them, some of them are even affected by CHD and chromosome related disease, but they seem to be having lots of great progress (at least from what I see from their social media). Then I realized that their health conditions are far better than Dario’s. Their oxygen level is above 90 percent along with two functional lungs and perfect kidney, plus they don’t have muscle and bone problems. My son with his defects which are quite severe and major can pull out things he actually shouldn’t, for instance walking and eating by himself or doing stairs back and forth (he gasps for air afterward though). He may not be quite verbal now but he soon will be. I am positive about this.

All he needs (which I believe every kid does) is never-ending stimulation, determination from parents, doctors, and therapists that he can be the best version of himself, make progress no matter how small it can be, keep moving forward and be content with what he has.

ASD related behavior

Due to his non-verbal condition (speaks only some words) his neuropsychiatrist stated that he might develop some ASD related behavior. He is not having though, only that he has some behavior that may relate to it. The full diagnosis can’t be obtained now, and we are waiting until he reaches 5 years old to be able to get some clarity over this thing.

Having an related behavior doesn’t mean one can have it. Behavior can change, even disappear by therapy and stimulation and once he gets to speak on daily basis. A kid can develop related behavior due to lacking experience of socializing because of longer hospitalization or being sick constantly. Pediatrician, Neuropsychiatrist agreed that Dario may need more experience with other kids so that he could turn this condition out.

So far, Dario understands commands, makes eye contacts, sleeps well, behaves well, understands how to play things and attaches to me and his papà.

#Hypotonia and pronation

I remembered when Dario was born, he didn’t cry as loud as other babies, he was lacking muscle reflex as I noticed. Through all the medical intervention, we were informed that his muscle is floppy, it is not toned or dense as it should be, but the good news it can be improved over time.

Due to hypotonia, he also develops a flat-foot condition known as pronation. This too can be improved over time by physiotherapy and occupational therapy. He also has to wear plantari along with his high tops shoes. He’s banned to wear sandals or barefoot. I am glad for these things.

Challenge, Prognosis, Hope, and Thoughts

For me, the main challenge of living with 22q is the fact that it is surprising (I bet every genetic/chromosome related disorder must be, as well). Each year, I am filled with fear that I will discover another defect. Every day I am trying to not miss any details about how Dario acts and does things as they might help physician or medics to understand this so-called #RareDisease.

We have been followed by Padova University’s Malattie rare department and I can talk to several specialists if I want to, for free. I am glad that we’re living in Italy where Dario could get every medical assistance and coverage without us spending money. Dario is considered having a #Disability because he is the member of ‘Rare Disease’ Italy and he gets monthly allowance plus other financial support, this is the thing he wouldn’t be able to get if we kept living in Indonesia. For this, we are so grateful, I can say, we are so lucky, as the main challenge for this kind of genetic and chromosome disorder is finance. Each defect means another specialist appointment which could cost a hundred euros if not thousand euros not to mention the tests and intervention. Therefore, my heart goes to all of my friends, the brave parents who try to manage to pull these things out. Kudos for you guys.

The prognosis seems positive for Dario, but we keep our fingers’ crossed.

As for our hopes, we are having great expectation that one day we could prevent this to happen. These years, I notice some medical breakthrough that could be the key to prevention. Gene-editing CRISPR/Cas9 (Clustered Regularly Interspaced Short Palindromic Repeats) is widely cheered up as one to reverse diseases related to gene and chromosome. Lots of medical publication have covered this breakthrough, and some centers have already applied it to treat Bart syndrome, #DuchenneMuscularDystrophy, #Hemophilia, Thalassemia, and #CysticFibrosis.