DiGeorge Syndrome

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    Tessa Koller

    Health Effects of Long-Haul COVID-19

    It was just three months ago when I was convinced I was living in a “new normal.” Back in August 2021, I caught the COVID-19 Delta variant and for more than seven months now, I’ve been fighting long-haul COVID-19 . People seem to think that only your first COVID-19 symptoms can send you to the emergency room. This isn’t the case. Long-haul COVID-19 just about eradicated me, and I’m still having significant hang-ups in my recovery. For months, I was struggling with dizziness and nausea, several headaches a day, fatigue I wouldn’t wish on anybody, chest pains that went from dull to unbearable in the blink of an eye, and as of December, a shutdown of my digestive system. One day, the function of my digestive tract froze up, and I couldn’t use the restroom. It was December 4 when it started, though before this, I was having instances of utter discomfort, constipation, and inability to urinate. By then, my health took such a drastic turn that I thought I had a kidney stone. I knew this couldn’t be the case when I found myself in a diaper. My symptoms were troubling. Before I go into more detail, I first must mention that I know about the challenges of dealing with health conditions. I have heart disease, lung disease, fibromyalgia, postural orthostatic tachycardia syndrome (POTS), depression, and anxiety. They are all associated with a genetic syndrome I live with, 22Q11.2 Deletion Syndrome, which is commonly known as DiGeorge Syndrome. I’m at high risk for COVId-19, and these risks maximized in intensity and frequency since I’ve started combatting long COVID-19. On December 4, I found myself nearly in septic shock, and my kidneys and liver also shut down. The only explanation I received from doctors was this was a long-haul COVID-19 case in the works. But I could’ve never prepared for what I was about to endure. It was alarming being told that my digestive system had frozen up, and I could go through this again. I was so constipated that I was losing feeling in the lower half of my body — starting just below my waist. Somehow, I made it through without ending up in septic shock. I knew, though, that the ramifications of my illness would impact me to a stunning degree. Long-haul COVID-19 has impacted me already. It’s the middle of March 2022, and I am still experiencing digestive system stalls. I also still have difficulty breathing, and I discovered that I may have an autoimmune disease as a result of my COVID-19 breakthrough infection. I’ve had to accept that I may struggle with symptoms related to long-haul COVID-19 for some time. I’m somebody who is a realistic thinker, and I personally don’t believe that positive or negative thinking has any importance on any outcome. I do meditative breathing when I’m experiencing intense physical pain and lose functionality in my body systems. Meditation, yoga, stretching, breathing, and being active when I am able has helped me — but not completely. Right now, I’m focusing on internal healing — treating these symptoms and flare-ups from the inside out. For three months straight, I’ve increased my Vitamin B12, D-3, Omega-3 and Omega-6, and zinc levels, and I’ve noticed changes in my overall energy. On those days when I must honor my body and simply surrender to daytime sleepiness and fatigue when my body wants to sleep but my brain doesn’t, I give my body what it needs. I’ve always listened to my body and acted accordingly during these times, and this has been my approach to wellness.

    Community Voices

    My Journey to Become a Journalist With 22q Deletion Syndrome

    I graduated from The College of New Jersey with a B.A. in Journalism and Professional Writing, which is almost unheard of for a lot of people with 22q deletion syndrome. I also have a driver’s license, so I guess I’m luckier than most, but it doesn’t always feel that way. When applying for jobs, I’m often left wondering if I should even list that I have a learning disability or a rare disease, since I struggle with math more than English. After I shared my story on the 22q support forum, someone from the 22q organization asked if they could interview me. Although I said yes, I was somewhat baffled. When I was younger, I went to an Islamic school after spending elementary at a public school. I struggled to try to catch up to others in my class. Granted, none of them knew I had 22q deletion syndrome and I was relatively picky about who knew. I had a high school teacher tell my mom she didn’t think I’d graduate from high school. The very same teacher got me a graduation gift when I graduated from high school and later, from college. Not to say that I didn’t have supportive teachers, but sometimes focusing on proving someone wrong can be a massive motivation. I have to say, being selected as the only person with 22q deletion syndrome wearing the hijab on the 22q site is something I’m definitely proud of. I can’t believe how far I’ve come, and if you’d like to read my story you can find it here: Amani’s Story. I like to tell people I’m more than just my disability. I’ve interviewed NYT best-selling authors S.K. Ali and Sandhya Menon. I have even interviewed the writer from “Bo Jack Horseman,” Minhal Baig. I currently have a bookstagram where I post about books. I’m the host of my own podcast, Raise Your Words where my friend Andrea and I talk about everything from pop culture, book club segments, cooking segments, to politics and culture. I have interned at The Tempest and Muslim Girl. I’m extremely happy with how far I’ve come but that’s not to say that I don’t have my off days where I question being a Journalism major or wonder if I’ll make a better journalist than Rory Gilmore was in the hit series, “Gilmore Girls.” Overall, I’m grateful that I’ve come so far despite the struggles I face while job hunting (being both a Muslim and someone who has a learning disability). However, there’s a comfort knowing my options are also wide open. I try to remind myself of that while I’m applying for jobs. If you’re also struggling during these unprecedented times, I want you to know that you’re not alone!

    Community Voices

    Finding Purpose After Diagnosis

    Finding Purpose After Diagnosis

    The Diagnosis

    My daughter is the strongest person I know. Kinley’s heart defect was identified when she was two days old. We had no previous warning. She was transferred to the nearest NICU and additional testing was performed. She was diagnosed with Interrupted Aortic Arch Type B, hypoplastic aortic valve and VSD and underwent her first open heart surgery when she was just 16 days old. This was a Norwood procedure that left her single ventricle. Kinley’s recovery from this surgery was complicated and required a 10 week hospital stay. During which time Kinley suffered from airway and feeding issues resulting in placement of a g-tube and an infection leading to a PICC line that we would later come home with. Due to multiple complications, the doctors suspected some sort of chromosome disorder and ordered additional blood test. It was confirmed that Kinley had 22Q11.2 Deletion Syndrome.

    Kinley had her second open heart surgery at just 9 months old. The Rastelli procedure was performed and successfully made her a two ventricle heart. She continued to have complications with feeding and the hospital stay was extended for 8 weeks.

    Most days were filled with some sort of appointments, whether it was doctor, labs, or therapy. Due to her 22Q11.2 Deletion Syndrome, Kinley has several issues. She is or was followed by cardiology, endocrinology, pulmonology, infectious disease, GI, genetics, neurology, orthopedic, ophthalmology, ENT, immunology, audiology, hematology, allergist and pediatric surgery. She has needed services that included feeding/speech therapy, occupational therapy, developmental therapy, and physical therapy. For these specialists and services travel is required to multiple cities. To date, Kinley has had 8 surgeries, including 2 Open Heart Surgeries, G-Tube place & removed, Ear Tubes, Tonsillectomy, Adenoidectomy and Pharyngeal Flap Surgery.

    Kinley is now 6 years old and is doing remarkably well. She loves school and does very well. Her favorite things to do are reading, coloring, playing, swimming, riding her bike, and dancing. She’s come a very long way from her early diagnosis. Our days are still filled with appointments, but with less providers and lots of therapy.

    We cope by knowing that the Lord is walking alongside us all the way. We could not do this by ourselves, we frequently lean on friends and family for support. After all, it takes a village, right? We seek pastoral counseling often and it’s very important to find support groups.

    Kinley is a fighter, a survivor, a miracle. Our hope for our daughter is that she will live full and abundant life. We hope she dances in the rain, sings at the top of her lungs, and laughs till her belly hurts.

    Is There Life Out There?

    Sudden flashbacks are racing through my mind of Reba McEntire’s song lyrics:

    “Is there life out there

    So much she hasn’t done

    Is there life beyond

    Her family and her home

    She’s done what she should

    Should she do what she dares

    She doesn’t want to leave

    She’s just wonderin

    Is there life out there”

    I couldn’t say it better. Days are filled with appointments, traveling, medicine management, phone calls to doctors and insurance, constant observation, and poop patrol. Yes, I said poop patrol. Do you know that you can find out so much by just examining poop? Charting my daughter’s last bowel movement was not something I thought I would ever have to do. But here I am up to my elbows in shifts…you thought I was going to say something else, didn’t you? In the beginning, you have to take shifts; you have to sleep to be the best you can be for her. Eventually though, someone has to go back to work and then that leaves one to handle everything else…me.

    So here I was leaving the finance world behind to take on the greatest job I would ever have. I would like to think that I utilize my Bachelor Degree in Business Management to keep everything organized. It’s no easy task keeping up with all the appointments, 13 different meds multiple times a day, making all the calls to insurance, daily logs, and just maintaining a child. Oh yeah, and let’s not forget the other child in the home. I’ve never been so exhausted in my life!

    Time passes and you realize that you’ve traded wage benefits spreadsheets for charts of medicine doses. Things are moving along and you begin to think that you can start to venture looking for a job, but then something will immediately happen and puts you right back in your place where you belong…home. Then one day you look up and wonder, is this it? Is there life out there?

    I’m here to tell you that there is life after diagnosis, it just looks different. It’s not what you’ve known or imagined your life to be, but it’s here and now and God placed you here to be that mom for that child because no one else could do it like you can. The child needs you! It’s not all sunshine and rainbows. That child needs someone that will be on top of everything and keep up with all that is needed.

    Finding Your Purpose

    I struggled with finding purpose after diagnosis. Stuck in survival mode for years can really wear on your soul. How can washing the dishes, doing the laundry, cleaning the house, and keeping my little ones alive have any Godly purpose? I felt like I wasn’t contributing to my family, friends, or community. Plus, I battled with the struggles our family was dealt. And I was sad, like all the time. So, what was my worth? I felt like there was no hope for finding purpose. I couldn’t imagine God finding a purpose for my pain.

    Then I opened the Bible and read Romans 5:3-5:

    “3 Not only so, but we[a] also glory in our sufferings, because we know that suffering produces perseverance; 4 perseverance, character; and character, hope. 5 And hope does not put us to shame, because God’s love has been poured out into our hearts through the Holy Spirit, who has been given to us.”

    I just started crying. Here in this little message I found everything. We can find purpose in our pain. Our sufferings give us the chance to positively impact this world in a way that no one else can. Your struggles or diagnosis can help someone else going through the same situation. Whatever your story is, there’s beauty and power in choosing to be vulnerable and share your testimony with others. When you’re going through the hard time, it might be hard to see the purpose God has laid forth for you, but know this…the storm never lasts forever! God is with you, always.

    I have joined many organizations and shared my story with others. It’s amazing to feel heard. To have someone come up to you and say Thank you for sharing your story because that’s exactly what I’m going through right now. You can be an inspiration to others. You never know who is looking up to you.

    Recommendations

    I’m not a doctor or a therapist. I’m just one mom reaching out to other moms. I can’t tell you what to do. I can only tell you what I have done and what has worked for me. You cannot control what’s going to happen next, but you can control how you respond. Approach each day with prayer and Thanksgiving, for God has blessed you with another day.

    Seek help! Yes, we all need help sometimes! We cannot do everything all the time. Reach out to family and friends when you need some assistance. There is no shame in asking for help!

    Find a support group. I have found several and they all serve their own purpose. It’s so nice to find others that know exactly what you’re going through and can relate. Plus, they can be a great resource for you.

    OPEN YOUR BIBLE! Find a devotion book or app and seek to hear God’s message. I have completed many different types of daily devotions and I swear it’s written just for me. Every day the message is exactly what I needed to hear. That’s God at work.

    Respite care is a necessity. You need to find some time to unwind and be yourself. I don’t care if you go get McDonald’s and sit in your car at the end of your street! Just find some time to rest and reset.

    EXHALE FEAR. INHALE FAITH.

    Anne Hefty

    Dear Herd: Please Help Protect My Immunocompromised Child

    Dear Herd, I have been watching the coronavirus (COVID-19) news closely. As the virus immobilizes and polarizes my home state of Wisconsin, I am also watching the reactions of people in our community to the spread of a transmissible disease. What set off my five-alarm, gut reaction to the recent news of coronavirus spreading like wildfire around the globe is the same thing that terrified me when there were unvaccinated pockets in our country that experienced the resurgence of a previously snuffed-out disease, like the measles. My daughter has a significantly compromised immune system and when she was younger, she wasn’t able to be fully immunized. Because for her, the live vaccines actually presented a threat to her already struggling immune system. Thus, she was far more susceptible to the viruses because she was unvaccinated and had a compromised immune system. Even before the coronavirus, I was never far from the latest news on viruses and vaccinations or a bottle of hand sanitizer. We are all part of the same herd, but the truth is that parenting my healthy firstborn child and parenting my daughter are about as similar as riding in an airplane and jumping out of one. I readily admit I would never understand the importance of herd immunity, germ protection or social distancing if I wasn’t the parent of a child with a rare disorder. My daughter was born fifteen years ago and I still have a jewelry box of her little hospital bracelets, the size of pinky rings — reminders that we actually survived when it seemed like we would all perish from exhaustion, from silent surgery waiting rooms and the unbelievable way you have to cling to the earth when it has turned upside down. So I understand that the public is new to grasping what it means to manage risk and to avoid germs. I understand that until right now, the idea that there are people in this world who could be quietly carrying germs that are dangerous to you or your loved ones is a foreign concept. I have had years to get used to risk-management. I’m used to thinking about germy surfaces, travel choices and the risks of large gatherings. Now? I am watching as our country is getting a taste of what our lives have been like, and what it feels like to be vulnerable to the choices of others who carry contagious diseases. After grappling with a mix of emotions for the last seven weeks, I have finally found the right words to describe my state: fearful and furious. My daughter is immunocompromised due to a chromosomal deletion, 22q11.2, which causes a long list of complications. Her lack of immunity to the germy, wide world has always been on the forefront of our parental responsibility. Quite simply, just as vaccination is successful by getting the majority of the people to protect the minority, so too are germ prevention measures imperative to protecting our community from COVID-19. As Eula Biss writes in her book called On Immunity: An Inoculation, vaccines protect the minority of the population that “is particularly vulnerable to a given disease. The elderly, in the case of influenza. Newborns, in the case of pertussis.” And as I envision my daughter, in the case of everything. I think of her and feel a rising fury as the news bleats repeated warnings about the spread of the coronavirus and about people who have disregarded their quarantines, who continued to travel despite warnings, who are upset by the cancellations of sporting events or the maskless masses protesting the “Safer at Home” order while marching shoulder-to-shoulder around my state’s capitol. The same disconnect that allows people to feel they have an individual choice in vaccinating is the disconnect that scares me with the coronavirus. Although the public has a “choice” to self quarantine, to travel, to comply with social distancing recommendations or to attend large gatherings, I worry because the health of so many communities and people depend on the choices of those who perceive themselves to be healthy, immune, unafraid of coronavirus — in other words, independent of a herd. When large numbers of people in our community fall ill, we will know that pockets of the virus have been brought directly into our area. At that point, it will be too late to protect the weakest members of our herd. My hope is in the days ahead, the spread of the coronavirus will slow down. If that happens and it seems like all of this fuss was for nothing, then we should be thankful for all of the people in public health, in companies and in universities who are working very hard right now for that outcome. However, I worry that my community, like so many others, will soon find ourselves in the midst of an outbreak. And the predictions for those who are immunocompromised at that point are scary. Susan Sontag, the author of Illness as Metaphor, wrote “Everyone who is born holds a dual citizenship, in the kingdom of the well and in the kingdom of the sick. Although we all prefer to use only the good passport, sooner or later each of us is obliged, at least for a spell, to identify ourselves as citizens of that other place.” I would spend all I have to buy a permanent passport into the kingdom of the well for my daughter and others like her. But until I find that passport, I am counting on you. On everyone in the healthy, confident, unafraid, mobile herd. I hope my herd can put themselves in the shoes of its most vulnerable members. I hope you and your families remain part of the healthiest and safest and strongest herd, but that you don’t forget those in your herd who don’t hold that same passport to the kingdom of the well. And I hope you don’t forget that your actions — or inactions — right now will help the weakest among us. Yes, it can feel inconvenient and unfair to have to cancel events, change plans or delay reopening your business to protect our most vulnerable right now. Trust me, I know. My family lives with those inconveniences every day. But please also trust me in knowing it is worth the effort. Today marks the sixth week that my husband, an emergency room physician, has been quarantined in our basement, away from our family, in order to keep my daughter safe and to continue to treat patients. While it is not easy, it is, and always will be, worth the effort. For more on the coronavirus, check out the following stories from our community: The Problem With Saying ‘Only’ the Elderly and Immunocompromised Will Be Affected by COVID-19 What It’s Like Parenting a Medically Complex Child During the Coronavirus Outbreak Please Wash Your Hands Year-Round — Not ‘Just’ Because of the Coronavirus How America’s COVID-19 Response Is Exposing Systemic Ableism Search for COVID-19 Treatment Leads to Chronic Illness Medication Shortages

    Tessa Koller

    The Cost of Working in Public When You're Immunocompromised

    A year ago, my life had changed in every possible way. It changed because I worked hard to change it. I became single, got a job as an in-house seamstress at a wonderful corporate business, and did a lot of growing up along the way. I first want to mention, I am dedicated and love what I do as a seamstress, designer, artist and writer. Within the last few weeks though, I caught a common cold, which I had for about 10 days. It got better. And then, within these last three days, my symptoms took an ugly, ugly turn. As someone with a compromised immune system amid this terrifying COVID-19 pandemic, I have become aware of the cost of working in and with the public. It’s my job to help others find their personal style, and it’s an honor to assist with such a task. From brides to bridesmaids, to prom and special occasion dresses and outfits, I’ve become a pro at styling and selling these garments. Unfortunately, I knew my risks for catching COVID-19 were increasingly high. I also have a genetic disorder known as 22Q11.2 Deletion Syndrome, known as DiGeorge syndrome. Every cold, flu and virus that has circulated, I have caught. I have three underlying conditions: heart disease, lung disease, and this past year, I underwent surgery to repair a splenic artery aneurysm at Northwestern in Chicago. That might have saved my life in more ways than one, despite how life-threatening the surgery and situation had gotten. I have now just been tested for the coronavirus and am waiting for the results. I am worried COVID-19 is attacking my digestive tract — some of the earliest symptoms are severe diarrhea, vomiting, and nausea. This pandemic has taught many of us that people need to be open and honest about their health and limitations. And now, there is no other options but to do just that. Because for individuals like me who are living with a deficient immune system, this virus can smack me hard to the ground, or my bed, rather. I’ve been bedridden for a few days. It’s also kicking artists, musicians, designers, small business owners, and anybody who is in a creative field to the ground. It was difficult for me to divulge my health conditions to my managers at the bridal shop, who have been nothing but wonderful and thoughtful of their employees and guests. I feel lucky to be an employee and seamstress for them. The reality for me now is ensuring my body and immune system jump on board to combat this. My organs are all overtaxed, and I am emotionally and physically drained of energy. I’m afraid like never before but am doing what I can to be sensible and smart. I’m also not sure what’s in store for how this battle is going to pan out. Another family member of mine, also immune-compromised, may have this virus, too. Everyone needs to come to grips with the fact that how one person is affected by this virus isn’t going to be the same for the next person. I’m monitoring myself carefully, continuing my supplements, staying as hydrated as I can, and trying to remain calm and positive. I hope I get to continue working my job as a bridal stylist. I love it more than anything and can’t wait to get back to life. Stay safe, everyone. Stay home.

    Community Voices

    Night terrors?

    Anyone who experienced a nightmares feel like this? Sometimes I wake up feeling not quite right. I feel like the world is crashing down on me. It’s like this terrible anxiety and the only thing I can think of is something happened in my dream. It will set me off for the rest of the day. I have cptsd, severe anxiety, depression, insomnia, nightmares and night terrors. This is different though. I get shaky. I have to take my chill pill to calm down. Even that doesn’t help. I don’t know what’s wrong but everything startles me when I get like this. I hate this feeling. The only thing that stops it is going to bed and waiting for the next day.
    Anyone else know this feeling? #Anxiety #CPTSD #PTSD #nightterrors #Nightmares #SleepDisorders #severeanxiety #DiGeorgeSyndrome

    31 people are talking about this
    Community Voices

    Girls on the run 5k with mild cp and 22q deletion syndrome

    My daughter has been training for a 5k race she is 12 years old with mild form of spastic cerebral palsy and a genetic chromosome deletion called 22q11.2 also known as DiGeorge syndrome and velocardiofacial syndrom. This is her last year running the 5k girls on the run race because she is moving on to middle school in the fall. Bella is a beautiful redhead with bright blue eyes. Bella is smart, fun and strongwilled determined to meet her own personal goals dispite pushing through some tough leg pains on ocassion.
    Bella has kept up with girls on the run since she was in 3rd grade. Missed days of school to attend physical theraphy appoitments, occupational appoitment and speech on top of psychology appoitments.
    we made it through one step at a time achieving one goal at a time.
    I wasnt to encourage parents of newly diagosed kid that the moutian we face is huge we can achieve thing in our own pace in our own time. It not about winning first place in the race but building endurance and to keep pressing forward even when our legs mind and hearts feel like jelly piles of goo.
    I too have 22q and having my child has shown me humans are made to achieve great things, push past limits and standards set by others.
    we are proof that the power of perspective is a powerful force to be reconed with
    thanks for reading
    #ChronicIllness #MentalHealth #22q11 .2 #CerebralPalsy #Running #Health #Parenting #SpecialNeeds #ADHD

    1 person is talking about this
    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.

    Community Voices

    Grace Under Pressure

    It’s not every day a life changing event occurs. In fact, in most of our lives, there might be a handful of moments that you can vividly recall where the course of your life dramatically changes, whether for the best or worst of circumstances. Some of these events can be explained, while many cannot. Many times we explain it away as either good or bad luck. Depending on how you view the situation determines how you ultimately deal with the serendipitous moment.

    For me and my wife, one of our life’s defining moments of change was on January 14, 2010. That was the day our second daughter was born.

    Looking back during the pregnancy, there were two events that seemed non-related at the time, but now seem to have relevance for us. Two events that occurred while my wife was pregnant that could have eerily foretold the future of our daughter.

    The first came as we talked about and prepared for the newest member of our family. During the nine months of pregnancy, my wife attended all of her prenatal visits and received the utmost of care from the medical professionals. The regular prenatal tests were done, always with excellent results. The sonogram showed that the baby had two legs, two arms, and her heart rate was regular. No evidence to show anything was abnormal with the exception of one comment my wife made while looking at the side profile of the baby’s head from the sonogram.

    “Her chin looks a little small”, I can recall her saying. But it was a passing comment as we continued with the preparations of our daughter’s arrival.

    The second occurred one day as my wife was at the mall. She noticed a young mother walking a stroller with a set of infant twins. Nothing unusual about that, except that these two babies were both wearing eyeglasses. Being that this is not a common sight, my wife stared at them and in her curiosity, she approached the young mother to inquire about the glasses.

    “Are those real glasses?” she questioned.

    A look of annoyance and somewhat tiredness of always being asked this question seemed to be expressed on the young mother’s face.

    “Yes, they’re real.” She replied.

    “How did you know that they need them?” my wife asked.

    Once again, the young mother’s face looked as if she’d been asked this question several times before.

    “Just like they check adult’s eyes.” She responded.

    The conversation was short, but my wife could tell by the look on the young mother’s face that she was used to receiving looks of curiosity about her children and responding to people’s inquiries.

    How odd to think that now my wife and I share that same experience as that young mother.

    As the day of the baby’s arrival soon approached we began talking about what name would we bestow upon our daughter. I wanted her first name to be

    Zacharina (only in jest) in honor of her father, but we opted for a name less conspicuous.

    We struggled to find a middle name to compliment her first. But as my wife tells it, our daughter’s middle name was impressed upon her by God himself. It occurred one night while my wife was thinking about the pregnancy. The baby didn’t kick as much as our first born had. For some reason, she was concerned about this newborn. A word popped into her head.

    Grace.

    She felt that with this child a lot of “grace” was to either be shown to her or shown by her. Nonetheless, her name was chosen.

    We arrived at the hospital ready for our daughter’s long awaited appearance. We had a few hours to wait until the contractions came and the birthing process began. There was no way that we could have prepared for what awaited us on the other side of that moment.

    As my wife began to give birth, I sensed that something different from our first experience with our oldest daughter was occurring. The baby’s heart rate had slowed and there was a question as to if she was able to receive oxygen. The answer to that question was evident as she arrived with the umbilical cord wrapped around her neck. She had been strangled while coming out of the canal. The nurses quickly cut the cord and un-wrapped it from around her neck.

    I wondered if this was the reason why she appeared so swollen. So uncharacteristic of what I expected. Something inside the pit of my stomach told me something was wrong, but I couldn’t place my finger on it. Her specific facial features seemed somewhat recognizable. I used to be a social worker and worked with developmentally disabled adults. I could usually tell those adults who had Downs Syndrome by looking at the shape of their eye folds and neck. Our daughter had those similar facial features.

    As the medical staff began to clean her up, my wife asked me if the baby was o.k. Thinking that I might be overreacting, I mustered the confidence to say that the baby was fine, but something lingered within me.

    As the nurses placed our daughter on my wife’s chest to breast feed, the baby would not take to it. Upon further inspection by the doctor, it was discovered that the baby had a cleft palate. Also, the chin of the baby was unusually small.

    The doctor excused himself. A few moments later more medical staff was present wanting to inspect our newborn. At that moment, I knew for a fact something was amiss. I could see the concern on my wife’s face. This wasn’t something we had prepared for.

    We were taken to the newborn section of the hospital as the doctor’s readied various medical exams for our daughter. Apparently, there was a pre-diagnosis that she had DiGeorge Syndrome.

    Neither my wife nor I had ever heard of such a thing. Questions swirled around our heads. What was this syndrome? What were the physical and more importantly, mental effects of this syndrome? Would she be alright?

    I’ve traveled the world by myself, I’ve been threatened with death on various occasions, I’ve almost been paralyzed, and I’ve been in some unsightly, horrid situations as a social worker, but those things don’t compare to the amount of fear I experienced the first night by daughter was born. Not knowing what was happening with her frightened me. It frightened my wife as well. Even as I think about it today, tears well up in my eyes.

    In the darkness of the room, all we could do was pray and ask God for His mercy and for His grace for our daughter.

    Blood was drawn from our daughter’s little body until she couldn’t give anymore. Various tests on her heart and kidneys were done. During one of these tests a nurse must have seen the concerned look on my face.

    “Don’t worry.” The nurse said. “Your daughter will be a blessing to many people.”

    A “blessing” I thought. My child who appears to have special needs will be a blessing? A sense of doubt overwhelmed me. If only the nurse knew. If only she could see the fear and anger rising within me. What kind of “blessing” comes with a #Disability? What kind of hope comes with not being “normal”?

    The shock of a lifetime came as the hearing test was conducted. Our daughter was deaf.

    More questions began to enter my mind. What kind of life will she lead without being able to hear? How will she communicate to us? How will we communicate to her? The list of worries grew.

    One possible diagnosis was presented to us. It appeared that our daughter had Stickler’s Syndrome, which is a rare genetic disorder due to a lack of collagen. Collagen is used to develop cartilage in our bodies. Due to this deficiency, not only was our daughter deaf, but she was extremely nearsighted as well. She would need eyeglasses as an infant.

    Because our daughter was diagnosed with a hearing impairment our name was placed on a registry for children who are deaf or #HardOfHearing (hoh).

    Thankfully, there is a system within the State that provides information and direction to parents of children who are deaf or hoh.

    It’s been nine years. Our daughter, Grace, is receiving various types of therapy and services to assist with her communication and development. She now wears hearing aids, and without exaggeration, everywhere we go people stop us to ask about her little red glasses that she wears.

    Grace is a true blessing to many people. Because of her, my wife has found her calling in life to be a Sign Language interpreter and is now attending school to obtain her signing certificate.

    Our family is also learning American Sign Language (ASL).

    Oddly enough, I find that I can thank God for Grace’s Stickler’s Syndrome. We’ve met so many nice people who we’d never would have the pleasure of knowing if it hadn’t been for Grace. She brings a smile to people’s faces whenever they see her. In a sense, she lights up the room. She has shown me what really matters in life, her life serves as a reminder to appreciate each day for what it is; a gift.

    There was no good or bad luck in the way she was born, it was by divine design. In some way, I feel that that we were chosen to be her parents. Knowing this does not make the road any easier to travel as we move forward, but I know that hope is there and so is grace.