I have a B-thalassmie intermediary. I had a file with my job insurance to accommodate one or 2 days absent some month due to the pain and exhaustion when I’m in crisis. I required to re-open my file, which was closed due to a lack of follow-up from my ex-boss. And once again, their doctore denied my symptoms, as per « thalassemia » is not supposed to have symptoms, regardless my analysis showing chronic anemia and leaver issues. I’m so depressed to hear that again. To be in pain, exhausted, but as per it not showing outside, no one seems really trust me, and I’m treated as an attention seeker or worst, as a liar/cheater, who is trying to get free day off, when I would give anything to have a normal life. I don’t have the energy anymore to fight to « convinced » people. I’m so tired to have people considering me as a liar. #ChronicPain
That is the 2 questions that I’m the most clueless about. During my entire life, my parents and most of the people around me focus exclusively on my weight and the way I look. Who I’m? The fat one, the lazy one, my mom obsession and failure. What do I want: loose weight. My questioning never had chance to go further. The results: at 8 at was on suppressing appetit pills ( back on time it was nothing else than amphetamines) and can’t remember a day without comments on my weight, what I ate, my lack of will etc… I saw numerous tuoes of medical staff, even a « psychologist » who ask me questions for 15 minutes and concludey that if I’m continuing like that, I will be dead at 55! I was 15. Locked for a day in an hospital specializes on overweight child, when my mom told me that we were going to do some shopping. The result: going from a litle bit of overweight as child to morbid obesity as adult. That condition my entire life. I have no self esteem, never be able to build a relationship, develop numerous desorder and mental problems. And each time I was going to see a doctor, regardless of the condition I made the appointment for, the verdict was always the same: loose weight, stopp eating, go on diet, and that will solve the issue. I suffer from intermediary thalassemia that most of doctors don’t even know. I’m suffering from constant anemia with fatigue, pain, nausea etc… but they will never take it in consideration. I’m not sick, I’m a fat lazzy women. But for 2 years now, I found a great family doctor that never bring-up my weigt on « table ». As per my blood sugar and my blood pressure are normal and my cholesterol non existent (way below markers!), she has no concern and help me to focus on my mental health. I also start to see an hypnotherapist, and that also help me. But now that I starting to get out of a life of weight loss obsession, I realize that I have no idea of who am I and what I want. I think, that I took for granted that I will died young and that will be the end of my problems, and now I 45, I’m lost. I’m living day to day but I’m not able to project myself. When I’m applying for a new position, the question I hate the most is « where are you seeing you in 5 years ». Gosh, I can’t picture myself in 3 months! I know that is crazy, but most of the time I can’t even answer simple questions on myself. When someone is asking me about my dreams, my long term projets, what do I like or what I would do if I won lottery, I’m clueless. It’s just make me panick. I go for common answer that people can rely to, but inside, I’m only empty. And that for all aspects of my life.
Let’s start from the beginning. It’s so interesting how the things that happen down the road can change your perspective on the past.
In 2005, at age 12, I first began suffering from #ComplexRegionalPainSyndrome/Reflex Sympathetic Dystrophy (RSD) in my legs, from my hips to my toes. In short, RSD is an extremely painful neurological condition where your brain sends pain signals to your body when it shouldn’t. At the same time, I started having issues with my GI tract and I also began to suffer from #Endometriosis. Of course, the (at the time) mysterious leg pain took precedence over any other medical issues I was suffering from. In comparison, they were insignificant. So we had to put them on the back-burner–despite the fact that both issues would put me in the ER several times over the years.
Returning to the , it took them two years to put a name to what was wrong. We had seen dozens of doctors in several cities across two states, and though there were doctors who looked, they always came to the same conclusion in varying forms:
“She’s just depressed.”
“All she needs is exercise.”
“It’s just puberty/growing pains.”
“She’s lying for attention.”
“She’s too young to know what she is talking about.”
“She’s fine. There’s nothing actually wrong.”
By the time I finally found a doctor to treat me, I was 14. I had stopped wanting to look because I had been so discouraged and put down by doctor after doctor not believing what I told them. And I was frustrated with myself, feeling like it was my fault for not being able to communicate it effectively. It was an orthopedic podiatrist (children’s foot doctor), referred by a friend, who took one look at me and gave a diagnosis within 30 seconds of first meeting me.
Thankfully, at that time my wasn’t that bad, but he still helped me so much. He put me on medication and I began getting the occasional block that really helped me. I was only having a flare up two or three times a year and they would only last for a few days. Most of the people I went to school with didn’t even know I had anything wrong with me–including some of my closest friends.
Over the years I was always sick with something, I always had something going on that we were trying to figure out. And any time I went to the doctor, I got all of the same answers, no matter what we went in for:
“She’s just depressed”
“All she needs is exercise.”
But now, along with that always came:
“Are you sure you have .”
“Can you tell me what even stands for?”
“You don’t look like you have .”
“Non-injury is extremely rare, are you sure it was diagnosed correctly?”
Every. Single. Time.
I remember in college I went into a walk-in clinic because I had the flu, and I was 100% prepared for the 3rd degree on my –even though it had absolutely nothing to do with why I was there. But I remember the doctor asked me a few, very respectful question about it, that I could tell were purely from curiosity, and that was it. He didn’t spend time trying to convince me I was wrong, crazy, or misdiagnosed. He was very kind, and he believed me. He gave me the medicine and I left. I remember actually crying in my car because I was that taken aback. How sad is that?
Over the years, as my symptoms and illnesses began to increase, I started to become desensitized to the truth of my own body. I don’t really know how else to phrase it.
I had told doctors for years that I was having trouble with my GI tract, I had seen three different specialists and each one had brushed me aside.
I had told doctors for years that I was anemic, everyone just kept telling me to take iron and then brushed my aside.
Same with my inability to regulate my temperature (I’m always cold, my feet are so cold they hurt, and I don’t get fevers), my migraines, my #Anxiety (for no apparent reason), and on and on and on. Eventually, I stopped believing things were problems, and kept brushing them aside just like the majority of doctors had done for the past 14 years.
Now let me clarify, this is not the case for all of my doctors. I have been beyond blessed with certain doctors who I firmly believed saved my life. Pain management, chiropractors, neurologists, and others who have helped me so, so much. And they are the ones who never gave up on me, and they were the first to recognize and openly admit that there was something going on. We just couldn’t find what it was at the time.
My sophomore year of college was when things really began to decline physically for me. It didn’t appear to be a steep slope, but in hindsight, it was definitely there. It may have been a mild bout with West Nile (yes, seriously), which could have triggered new symptoms, or simply the stress and drama of college.
I was finally diagnosed with endometriosis, which I was able to begin treating properly. My anemia (which I would later find out was actually #Thalassemia (small RBCs)) had worsened, and my episodes would become so severe that I was forced to drop two semesters of school, and move one to fully online classes.
I could feel my body getting weaker and weaker, but I didn’t know why. Every doctor I went to at the time just kept repeating the same thing: I was fine. But the reality was my body was falling apart.
In early 2018, I was working in a kindergarten class, which I just loved, when I really began to decline. By this time I was having 3-5 bi-lumbar sympathetic nerve blocks done each year. Living in San Antonio, I made my way to Houston for the block. Everything went great. I returned to Houston a month later for a follow up block, which, hypothetically, should enable me to go without an flare-up for at least 6 months. However, when I came out of that procedure I knew something was wrong: a small spot on my right thigh felt off.
By the end of the week, I was in an excruciating amount of pain. My doctor, to this day, has no idea what went wrong. I was on hydrocodone, a muscle relaxer and a prescription lidocaine patch round the clock for more than three months. But the problem was there was technically nothing wrong. It was like my nervous system just began overreacting for no apparent reason (the pain was different than my typical nerve pain, and it was up my back as well as down my legs). There was just no explanation.
But one day, after an anaphylactic reaction from MRI contrast, the pain began to go away.
Again, it made no sense.
For a few months I returned to a normal life. I began seeking out doctors who could find out what had happened, and who might be able to prevent it from happening again. But soon I began having other symptoms. By October I was dealing with severe migraines (including a #HemiplegicMigraine that mimics #Stroke symptoms), tingling hands and feet, muscle weakness, severe lethargy, and vertigo. My had become such a problem at that point that I spent anywhere from 50-70% of my time on bed rest. The rest was spent recovering in a wheelchair, with a walker or a cane. My balance had become so bad, accompanied by the tingling and numbness in my hands and feet, that I was always having to use a cane. I hadn’t driven. And I was getting more and more tired all the time.
By early April I had begun to develop what I would later find out was pneumonia. I’m allergic to pseudoephedrine, which is a main ingredient for a lot of inhalers. So even though I was having a lot of trouble breathing at this point, I was sent home with only prednisone and a z-pack.
We returned to the same place (mistake!) after the weekend because I had begun having left chest pain, severe dizziness, and more difficulty breathing. I was shaking terribly during the EKG and they results that came out were abnormally flipped T-waves (to be honest I still don’t know what this means), but they told me it was probably just because I was shaking. I would find out later this was not the case. After my EKG they took my back to get an Xray of my chest to see if the pneumonia was gone (they had not done one the first time). I was instructed to hold my arms above my head during the Xray, and when I did I fainted twice.
Because my Xray came back clear and my EKG was “normal” they said I was fine and could go home. I had to insist upon them giving me some sort of inhaler, which they eventually did. And that was it.
Let me just say that I made the mistake of walking into a “ready clinic” and it could have cost me my life. Yes, they were under-qualified to offer a diagnosis for what I actually had, but they should have sent me to the hospital immediately. And they should have. Instead, I returned home with an albuterol inhaler thinking, once again, that nothing was wrong.
I made it to a primary care doctor Friday, who gave me a second inhaler and wanted to see me for a full physical the following week. He said he could tell something was going on he just didn’t know what.
That Sunday was Easter Sunday. I made it to church with my family, where I was rolled around in my wheelchair, but remained entirely out of breath. Afterwards, when I was moved into the car, I quickly passed out for the third time, right onto my brother’s shoulder. We rushed home and my family ran inside to grab me something to eat (I hadn’t eaten breakfast that day and we figured that is what it was–not realizing it was #OrthostaticHypotension), and my inhaler to open my lungs. As I waited outside in the car, I opened the door to say hi to the dogs and (with my seatbelt still on) passed out again.
I continued pushing through the day; and I pushed through Monday when I got worse and fainted again. Tuesday my mom and I went to my first appointment with Occupational Therapy. I chose to use my walker instead of my wheelchair, thinking that with the pneumonia gone my lungs just needed to stretch again. By the time we met with my OT she took one look at me and knew something was wrong.
She asked how long I had been breathing so heavily. I told her I was recovering from pneumonia.
She asked why my heart rate was so high, and why I was shaking. I told her I figured it was the albuterol from the inhalers.
She asked how many times I had fainted. I told her at least four, but that I figured my body was just weak.
She asked how long my blood pressure had been so low. I told her my mom’s always runs low too so I didn’t think anything of it.
She said No. Something is seriously wrong with you.
I had been told by so many doctors for so many years that any symptom I had was explained by something else, that after a while I guess I started to believe them. And I didn’t recognize my life being in danger because I had been trained for so many years not to trust myself or my body.
She took my blood pressure and heart rate sitting down, and then called someone else over to hold me while she took it as I stood. As soon as I stood up I just dropped like a sack of potatoes. She called 911 and after an EKG (that once again showed I had abnormal flipped T waves) and a second #Fainting spell we were off in the ambulance to Methodist hospital in the Houston medical center.
It took about five minutes for them to tell me they were admitting me. It had gotten so bad by then that any time I lifted my head off of the pillow I would get extremely dizzy or pass out all together. I was in the hospital for seven days. They ran every test imaginable. Initially, when I was first in the ER they told me that they were going to be looking for either a #BrainTumor or a hole in my heart. But time after time, test after test, they came back with nothing. Everything was “shockingly normal.” I began to be extremely discouraged. I was afraid that the doctors would come back and eventually tell me there was nothing they could do, or once again decide that there was nothing actually wrong with me.
But boy was I wrong about Houston Methodist. They refused to give up. They continued to believe me, respect me, examine me, and listen to my body.
After being under observation for seven days, they can pick up on things that I had convinced myself weren’t things worth mentioning. Things such as constant nosebleeds in the morning, night sweats, overactive reflexes, and something that neurology noticed that I never had: over-dilated pupils.
After a few days, the neurology team diagnosed me with #Dysautonomia (a dysfunction of the autonomic nervous system, which is the system that controls things “automatically” in your body. Things like blood pressure, heart rate, digestion, nerves, temperature regulation, etc.). I was more specifically diagnosed with #AutonomicDysfunction across multiple organ systems.
Yeah, it’s not great. But I will say it explains a lot! It turns out a hallmark of Dysautonomia is how difficult it is to recognize because there is no definitive test for it. Any MRI, CT, blood test, etc., will come back completely normal. I guess that’s why no one could find it in the first place.
Anyways, come to find out that five of the medications I was on were making my Dysautonomia significantly worse. For a normal person with , or a normal person with any of the conditions the medications were prescribed for, it wouldn’t have affected the individual the way it did me. But because of my , the combinations of these medications could have literally killed me. Getting the pneumonia and ending up in the hospital is not only got me my diagnosis, but also probably saved my life.
Since my release from the hospital, it has been a bit of a whirlwind. I dealing with doctors who are in disagreement about the severity of my condition, ranging from I don’t have it at all (which I don’t buy for a second) to some very scary, intense conversations.
Now, after 14 years, I finally have a diagnosis. And for that I am so grateful.
But I’ll be honest. It’s a scary diagnosis.
I still don’t know what all systems I have in. At this point, it’s a matter of getting into all the specialists who know how to treat the condition, and doing it in a timely manner. It takes an average of 5-6 years for a person to get diagnosed with this condition, for the same issues I experienced. But it took me 14. Probably because mine began when I was a child, and my first system to malfunction was my sympathetic nervous system (the ), which is pretty rare, as well as my reproductive system (endometriosis) and my GI tract. Plus, most people with have POTS (#PosturalOrthostaticTachycardiaSyndrome), which I don’t have.
Right now my biggest issue is learning how to trust again.
Learning how to trust the doctors who treat me, which is difficult at the moment considering none of them can agree.
And learning how to trust my own judgement in regard to my body. The thing about this condition is that any part of my autonomic system can start malfunctioning at any time. Which means I have to be able to learn to differentiate between what is normal and what isn’t within my body. But that’s really hard when I’ve been told constantly by numerous doctors over the years that I’m, in short, “being dramatic.” I have to retrain myself, and to readjust my thinking. And it’s been really difficult.
But for now, the two big things on the agenda are Baylor Neurology and getting into the cardiologist. I was told in not so uncertain terms that the biggest threat to my life with this condition, and the thing that I need to focus my energy on first, is my heart. It’s the thing that kills people with Autonomic Dysfunction. Unlike the other systems, there is no warning, and no time when it decides to stop working. It can start beating too fast, or too slow, or just stop all together.
Considering I am already dealing with low blood pressure and high heart rate, as well as weird breathing problems, we knew we had to get in ASAP to a good cardiologist. I’ll find out soon if I’ll be getting a pacemaker and/or if I can get on the medications. But at the moment we are just having to be as careful as we can and trust in God’s plan. I go in June.
#MyastheniaGravis is a of the lungs, and that already runs in my family: my aunt, great-grandfather and a distant cousin all have it. So that is something else I will have to be looking out for.
Just yesterday I was back in the ER with what might be #Gastroparesis, which means my stomach nerves/muscles aren’t emptying my stomach all the way. So… that’s great.
So these are all things I have to watch out for. It’s a lot, trust me I know. And it’s infuriating to know that I have had this condition for 14 years. And I am honestly deteriorating at a rather rapid rate now, I’m always in a wheelchair and I’m usually in bed. I can barely leave the house, I’m constantly in pain, and I’m even struggling to read. And a part of me is so angry and devastated that it wasn’t caught by the dozens upon dozens of doctors that saw me before.
But at the same time, as a dear friend pointed out to me, I’ve had this condition for so long, and I have been severely sick so many times, it could have been much worse–considering the condition I had (despite the fact that no one knew). I got a stomach bug in Uganda on a mission trip; as I mentioned before, I had West Nile Virus; I have had injuries, and traumas, and flare-ups and opportunity after opportunity for something really, really bad to happen.
So though I am struggling to trust many people at the moment, including myself, I will continue to trust and hope in the Lord.
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.
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.
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.
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.
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.
We're in training spiritually and our attitude is our key to allowing us a tomorrow. Things have been rather difficult. This is a major negative result of long-term depression when physical symptoms of aging play into the deck ... chaos! My home is in total disarray. To just give us dinner at night, I have to bring my focus into the foreground and deny any other project or need. I have to breathe deeply, isolate parts of the project and follow through. This is what everything demands in my environment, but I cannot tell you how dissolute my mind is ... I use television to focus and derive some peace. Then I have to be honest and realize that I have preempted life and have chosen to live vicariously through the dramas and romances of the television ... I especially love redemption morality plays. The truth is I'm afraid of the long years of pain which began as a child of abuse ... but I have rationalized my experience to see the good as scripture directs and as I understand. I am absolute when I say I am a survivor ... but, being so close to suicide, I have sort of tread water, or skimmed, through life for I suffer from a feeling that I am truly not invited to the table. Being said, I am in my sixties, I realize how amazing I am because I have developed a great deal of empathy and this gives me solace. I have had nine hospitalizations for MH issues and even subjected myself to ECT for unrelenting depression. I can't imagine what healthy means ... if it's not my depressed thinking that holds me back, it's my deeply tired feeling from a blood condition called thalassemia; and then, of course, it is the residual fear and guilt that clouds my mind. Yes in the '70s I recognized the loss I had become and I came the closest to suicide ... it truly was a value judgment. The only thing I know is that after I would have eliminated my self, I would have lost the opportunity to help others (and specifically my family) ... if I allowed my despair to become dominant, I would have lost whatever power God gave me ... to connect and help. For me, that is my primary purpose ... but I recognize the scripture to wholly love God and to love others as you love self ... so I am trying to develop a healthy relationship with self: physical, mental, emotional and spiritual ... the physical is my most difficult connection which is a product, I believe, might be from my childhood abuse. There is much talk about PTSD and while I haven't been in the military, I am in a war.
Congrats to all who can connect with me for we are all survivors! One main concern: those who have been victimized can often find themselves becoming a victimizer in a reactive protective effort ... don't become a statistic, don't allow yourself to become part of the problem and not be the solution. Remember, we all have power if we stay in the moment. I may have difficulties loving ... but in a spiritual sense I love you all (agape).
#LymeDisease . Need to get tested for Lyme disease and start treatment if that’s what I have and not Lupus. I can’t take Lupus medications due to my Thalassemia most medications alter an lower your RBC which causes more problems. I’m tired of putting a band aide on my situation and need to get to the root of the cause and fix it.
#LymeDisease as a kid I was always picking ticks off me after playing outside. Now they say the Lone Star Tick here in Texas can give you Lyme disease. I was diagnosed with SLELupus. But wonder if it’s Lyme not Lupus. But they also say you can have both. Hope not because I have Thalassemia a genetic blood disorder I was born with. My symptoms are spot on with Lyme disease, rashes, horrible chronic pain that has spread to all my joints, hips, knees, back, neck etc. and now I believe it’s effecting my CNS... Heart, Kidneys, everything. My symptoms are chronic an have just gotten worse not better. Which tells me if I do have Lyme it’s in the late stages an I’m hoping I can get it cured but I read you can’t once it’s this far along. But I am a fighter, stubborn and believe I will find away to get rid of this from my system. If there’s a will there’s a way.