DiGeorge Syndrome

Hi, my name is Susan915. I'm here because my granddaughter has DiGeorge Syndrome & we would like to learn more about it.

#MightyTogether

There are moments in life when we are reminded of our purpose and why we keep striving to make a difference. I had one of those while traveling overseas in Japan and South Korea.

For three weeks, I explored many cities in Japan and went on to Gwangju, South Korea for a special family occasion. Both countries blew my mind. Both places were equally stunning with misty mountains and the water was so clear that you could see through it. The last thing I wanted was to allow my health to ruin such an experience, especially when I was with my family.

The problem with having complex health challenges is that you can’t predict or control when something does happen. In every moment, I try to stay present and focus on others and get out of my head.

A few days before my family event, I ate out at a raw restaurant three and a half hours outside Gwangju. I tried exotic foods from the ocean and I was adventurous with my palette.

As the evening was winding down, my symptoms became suddenly overwhelming. First, I broke out into hives and thought I was having an allergic reaction and told myself to suffer in silence. Not long after, my heart rate radically dropped and I could feel my heart struggling to work. The beats were suddenly different with prolonged breaks between them.

Discretely, I kept quiet about my distress and went into the other room. My mom was the first to follow me out, and I can’t remember much of what happened after that. My calves, ankles, and feet were swollen and icy cold and were a purply blue. I wasn’t getting blood to my head, but being in a public place prevented me from elevating my feet higher than my heart.

For over an hour, I was in and out of consciousness and was having so many symptoms that I couldn’t keep track of them all. I kept saying and hoping that they would pass and I’d naturally recover. I was having bradycardia and tachycardia and not bouncing back. A family member on my sister-in-law’s side revived me by trying to get blood to my head and it worked. But, my heart rate still wasn’t normalizing and the swelling wasn’t going down.

We were in rural South Korea and nobody knew how far away we were from an emergency room. My sister-in-law kindly translated everything and helped us call the paramedics, which couldn’t speak a word of English. In fact, the paramedics looked very young, but they knew of DiGeorge Syndrome or 22Q11.2 Deletion Syndrome.

The experience reminded me of what my purpose has been over the last fifteen or so years; to keep raising awareness of 22Q11.2 Deletion Syndrome or DiGeorge Syndrome. To keep getting the public to learn about it and talk about it on a broad national and international scale.

What complicates all of this is that the severe bradycardia and my heart rate dropping too low has happened several times in the last year since my second bout with Covid-19 last summer and it’s another layer of complexity to my already complex circumstances. New symptoms came up in the recent few months, the swelling in my legs, ankles, and feet.

Swelling in the extremities is a sign that heart failure is becoming more severe. I was in the early stages and I’m not sure what stage I am in now, but my recent echocardiogram didn’t look nearly as bad as I thought it would. My ejection factor is in the normal range though on the lower side.

I just underwent a procedure to have a loop recorder implanted in my chest which will detect and generate data 24/7 of what my heart is doing. On top of being in the early stages of heart failure, I have Mitral Valve Prolapse and my cardiologist also wants to study what’s happening there.

As always, a new diagnosis, for me, means that I must take more action to better my health. I signed up for a membership at my local gym. I am getting into light swimming again, I’m still doing yoga regularly, and I walk every day. I know I can’t prevent or change what’s happening to my heart, but I can still strengthen it and be more careful with it. That’s what I plan to do.

Back in September, I had caught #COVID19 , or it caught me at the worst possible time. I was supposed to undergo surgery to have two hernias repaired, but plans changed when my Covid-19 test came back positive. Though I am fully recovered, I’m now dealing with a consequence or a ramification of having Covid-19. The symptoms I was having mostly resolved, but these coughing fits have persisted. Still, I endure intense chest pains and tightness, and I wasn’t sure what was causing such distress.

The nature of these symptoms has changed, their behavior and intensity. The coughing is painful, and the pain radiates through my chest and throat. It’s disheartening to be recovered but not feeling better, or in my case, feeling somewhat worse. Then, there is the worry of how Covid has impacted a high-risk individual like myself. It was debilitating to get results back that showed I wasn’t totally out of the woods.

New research studies have been coming out about Covid-19 causing lingering or residual symptoms. It hadn’t occurred to me this could be my dilemma. Again, I was thinking it was those pesky fall allergies or the onset of a seasonal cold. Being high risk with the genetic disorder, #DiGeorgeSyndrome , heart, lung, and vascular disease, I was hoping the two Moderna vaccines I’d received had done enough. I was relieved they prevented me from dying from this virus and that I was able to come through it.

A couple weeks ago, I went to see my immunologist for another health problem that had been plaguing me. When I described my issues with these coughing fits and trouble breathing, she advised that I do a chest x-ray. The results came back a few days later and the nurse from the department contacted me. She told me that air was getting trapped in my lungs and not fully moving around. The update alarmed me and have been heavily monitoring my symptoms since I received this news.

When I have the symptoms, I can’t ignore or deny them, and for now, I’ll tolerate them. Just trying to carry a conversation, I’m constantly clearing my throat and losing my voice. The person I’m speaking with either backs away or asks me if I have Covid. When I tell them that I already had it, a slew of questions follows. I’ll clear my throat because I think I’m preventing a coughing fit from occurring but somehow triggers more coughing.

Even though I’ve recovered from Covid-19’s breakthrough infection, now I’m faced with these consequences involving my lungs and breathing. With air getting trapped in my lungs, this must mean my heart may be getting deprived of oxygen. In health, everything is connected and when you’re having a problem, it may be affecting or causing other problems elsewhere in the body. For me, this is a fact and daunting thought that, often, keeps me up at night.

I’m afraid to research too much into it without further examinations and tests. It’s easy to turn to Google when a bomb drops on your head, but the Internet only makes things worse. Instead, I’m going to do what I always do and undergo further testing in search of more answers and greater knowledge of what I’m up against. Medical tests, though, are exhausting and I get so sick of my health interrupting my life.

If you know me at all, you know that I don’t allow these symptoms to completely overthrow or overpower me. Now, you know why I do art, writing and sewing every day regardless of how debilitated I’m feeling. They don’t require much exertion and am able to do these activities with my butt in a chair. Since I’ve been on a potent, high dose of an antibiotic and have another few weeks with it, I’m hoping this lung situation resolves.

I have a previous student with DiGeorge Syndrome, whom I’m in contact with and could do with support. He is 17 and lacking friends.

#RareDisease

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.