July 12, 2026
Charlee Update & Awareness Day!
Today is our first time to recognize “17q12 Day” which is annually on July 12th.
To celebrate this milestone of FINALLY getting answers to all of Charlee’s challenges, she is officially registered with the 17q12 Foundation, so her journey can piece together other stories with other humans seeking answers just like us!
These less than 300 cases world wide humans are pioneers for future discoveries in the rare disorder communities.
Even though Charlee has had this rare chromosomal disorder since conception, she just got the diagnosis in 2026, at 18 yrs old! (Diagnosed through genetics at Children’s Mercy…this was her 4th genetic panel and was specifically a panel for rare disorders).
They now test for 17q12 in utero when they suspect kidney malformations or kidney function disruptions, but that wasn’t available in 2007.
There are currently 255 documented cases world wide. Prevalence could be 1 in 14,500 or 1 in 62,000. (And anywhere in between)
To put that in a percentage, the prevalence could be 0.00689655% (1 in 14,500) or 0.0016% (1 in 62,000), or in between.
There’s a huge range of symptoms from mild to severe, some have all the characteristics and some only have a few main ones, like kidney and liver malfunction.
Some of the common shared characteristics:
-Kidney & liver issues
-MODY Type 5 diabetes (Charlee has an appointment tomorrow to check for this!)
-muscular skeletal (like scoliosis!)
-neuro development such as neurodivergence-ADHD, autism, anxiety disorders, depression, etc.
-seizures
-magnesium wasting through kidney
-muscle weakness/hypotonia
-connective tissue disease
-subtle facial features, like high eyebrows, full cheeks
We are STILL learning the impacts of a late diagnosis and having to do so with little support currently as charlee got the diagnosis just as she is aging out of pediatric. In some ways it’s a fresh start, but we are having to build an important multidisciplinary team in a very broken system where you can easily wait 6 months-1 yr for appointments, when she needs immediate support.
The other challenges involve the aspects of the multiple rare diagnoses. This means exhausting advocating and educating healthcare professionals, having to travel to find the right experts, and paying many out of pocket expenses.
The theme for 17q12 Day is #HowWeFly and participants are to display something that flies through the air to demonstrate their soaring journey.
I picked a photo from last night, Charlee with one of her #IAmRare besties, Gracie, watching the fireworks at Harrisonville Park. You can see the picture on my Facebook page (Misty Carter Terrell).
June 16, 2026
Charlee Update: We are at Missouri State for freshman orientation!Yesterday was rough. Really rough. MCAS flared, (mast cell activation syndrome)…POTS symptoms were in full force…sadly, she missed out on everything and instead of meeting new friends and attending sessions, she was vomiting for hours, having near black-out episodes, etc. It was so sad. So isolating. So frustrating. So disappointing. How do I help my girl while she’s vomiting in a styrofoam cup with tears streaming down her cheeks? What words do I say? How can I hold onto hope for her on those days hers is absent? I still don’t know, tbh. “We will get through this together.”“Ride the wave.”“I’m here.” “I’m so sorry.” “I’m just a text away.” Sometimes I feel like I’m on repeat…and it feels defeating as a mom when those waves of helplessness rush over me. I HATE feelings of helplessness. Today, we set our alarms and got up early to attend the sessions. Or at least try. And today, she’s done much better. Thank God!!!!! Chronic illness is weird like that. The flares can hit quickly and last hours to days to months. This little trip has revealed she definitely needs to be more stable before attending in August..,but I DO think it’s possible if/when we tweak a few things..,but tweaking is never a quick easy fix in our broken healthcare system. Go BEARS!!!!
June 2, 2026
Charlee Update Part 2 (written yesterday) We had a really rough weekend.A nerve block on Friday—a pain management procedure —caused some unexpected complications that resulted in an all-day ER visit on Saturday.Then Sunday, which was supposed to mark the beginning of Charlee's senior trip, became another heartbreak.We were scheduled to fly to Miami and take a three-day cruise to the Bahamas. We were so excited!We made it through TSA, but as we approached the gate, Charlee suddenly tanked. She turned gray right in front of me. It was concerning and frightening. Her heart rate dropped significantly, and she was on the edge of passing out. I ran to the gate agent for medical assistance. Eventually medics arrived…her coloring started to return a bit, but her body simply couldn't rebound. Her senior trip ended before it even started.The drive home from the airport was heavy. No one spoke. The grief was palpable.Today, the four of us are picking up the emotional pieces and doing our best to reframe the disappointment.Since we already asked off work, my boys are headed to Bennett Springs to get in a day of flyfishing. Charlee is resting and regrouping. My goal this summer is to establish more centralized, specialized care for Charlee's 17q12 deletion syndrome. To do this, I am breaking it down into steps. 1. I am working on obtaining durable power of attorney so I can continue helping coordinate her increasingly complex medical care. 2. I’m proud of my ADHD brain for finally putting together an organized 3 ring binder that can travel to appointments with us. It has all her diagnoses, recent imaging, etc., and is divided into organ/system categories. (Genetics, pulmonary, endocrine, cardiology, vascular, neurology, gastroenterology, etc.). 3. I truly believe the right team of providers is out there, so I spend a lot of time reading up on providers and making calls/appointments. (We need to rebuild a local multidisciplinary team post 17q12 diagnosis at an adult hospital. Going with Ku med.)Charlee remains hopeful and determined to start college at Missouri State University this fall. At the same time, she has developed a realistic understanding that her health may influence those plans. For now, we're taking things one step at a time and hoping that a summer of rest, recovery, and the right medical support will give us a clearer picture of what lies ahead.On a very positive note, I am happy to report that Charlee is doing remarkably well with eating. The surgery she underwent in the Philippines last December has been successful. It certainly hasn't been without challenges, but we remain incredibly grateful.She is able to eat and maintain nutrition without relying on feeding tubes. That is something we never take for granted. Thank you to Domingo Alvear and Marcus Lester Suntay for making this possible! And to wrap up this forever, long post with a chuckle, during the ER visit last Saturday. Jim was absolutely freezing so I went out to the car and grabbed Charlee’s favorite blanket so he could cover up… It just happens to be a blanket covered with pictures of Tom Holland! We were hoping a nurse would ask Jim if he was a big Tom Holland fan, but sadly, no one did! Oh well, his girls got a big kick out of seeing him snuggling up in his Tom Holland blankie. As always, thank you to everyone who continues to pray for, encourage, and support our family. We appreciate it more than you know.
June 2, 2026
Charlee Update: Part 1This update is kinda long, so I’m dividing it into 2 parts. For those who missed it—or need a reminder—in late February, we finally received the diagnosis we had been searching for. Charlee was born with a very rare chromosomal disorder called 17q12 deletion syndrome.When I was pregnant with Charlee in 2007, this condition was not commonly screened for. Today, prenatal screening may be recommended when kidney abnormalities are detected in utero.There are only a few hundred documented cases worldwide.This diagnosis explains so much of Charlee's life.In some ways, it is similar to Down syndrome, with certain shared (though often subtle) facial features, kidney abnormalities, and an increased risk of a rare form of diabetes called MODY 5, which typically develops in adolescence or adulthood.The challenges associated with 17q12 deletion syndrome are significant. Anyone who has followed Charlee's journey knows that her medical history has been anything but simple.At this point, our goal is not to find a cure—you cannot cure a chromosomal disorder. Instead, our focus is on:-Surrounding her with knowledgeable providers-Supporting her holistically-Managing symptoms effectively-Being proactive whenever possibleReceiving this diagnosis shortly before her 18th birthday has been bittersweet. For 18 years, our lives have consisted of searching for answers, bouncing between specialists, and trying to piece together a puzzle without knowing what picture we were building.Adding to that challenge, Children's Mercy allows patients to continue seeing established physicians until age 21, but after turning 18, patients cannot establish care with new providers there. So, just as we finally received this life-changing diagnosis, we also found ourselves needing to rebuild much of her medical team. It has been lonely, frustrating, and overwhelming at times.Because 17q12 deletion syndrome is so rare, there are very few support groups and limited research available. There aren't many families to compare notes with or ask questions. Much of what I've learned has come from digging through medical journals and research articles.Still, we keep moving forward.We have three appointments scheduled in June, and I'm hopeful they will help us build a stronger path forward.This Friday, we meet with our neurologist in Phoenix via telehealth. On Monday, we'll see a new internal medicine physician at KU Med. Then, at the end of June, we are scheduled to travel to New York City to see a cardiologist—assuming she is well enough to make the trip.Part 2 coming soon…
March 31, 2026
Charlee update...and it’s HUGE!!!!!! SHE HAS A NEW DIAGNOSIS On Friday, Feb 27th, I was driving in Breckenridge CO to rent some snowshoes for Sam and I to use. (I took him and one of his best friends alpine hiking for Sam’s 16th bday.)As I pulled into the ski rental parking lot, I saw a familiar call come in…Children’s Mercy. I parked the car and answered, thinking it was more than likely just a reminder call for upcoming appointment. To my surprise, it was the genetics counselor. Charlee has had at least 2 large genetic panels done. But last fall (2025), we took her to the muscle nerve clinic at CMH because of ongoing muscle weakness and small full-body twitches that she’s had since elementary school years. They asked to run a panel we had not done before. It included rare genetics and -of course- insurance did not approve it, stating it wasn’t medically necessary since she’s already had panels done before. But we felt at this point, leave no stone unturned. As I put the car in park, the counselor said, “Misty…we have a diagnosis.” I know Rocky Mountain air is thin, but I swear to you, the air inside my car exponentially dropped as I felt my body respond. I frantically looked for a pen in the console and tried slowing down my heart rate…and said, “ok, I’m ready.” Our sweet, funny, quirky Charlee was created with a rare chromosomal disorder called 17q12 deletion syndromeSay what????? The next 20 minutes was spent frantically writing down everything she told me.In a nutshell- Most parents discover this dx in utero. We are late to the “oh by the way..,missing chromosome party.” Charlee's is non inherited, meaning neither Jim, myself or Sam have it. She was uniquely, beautifully crafted…-very rare. Some statistics say less than 0.05% chance of having it-less than 300 documented cases world wide (as of 2024)-it affects gene HNF1B (kidney) -common theme among this demographic (but you can have some, all, or just a few): kidney issues, hypotonia, magnesium wasting, seizures, type 5 diabetes (early adulthood), subtle facial features, muscular skeletal issues, neuro development (adhd and more), learning disabilities ranging from mild to severe, (dyslexia, auditory processing etc.), hypermobility, and more. There’s more I’d like to say…it has stirred up so many emotions and years of painful memories…knowing and believing there was still an answer out there for her, not being believed by even some close to me, being constantly gaslit by the medical community and beyond….I could feel the strangest sensation of relief, grief, anger, joy well up inside my soul all at the same time. And a lot of “if only” thoughts…having this dx would have saved us a lifetime of frustration, confusion, money, time and resources. We’ve had a month to process. And timing is everything. I thank God that I was in the mountains and could hike out my thoughts, questions, emotions. Jim & I were able to talk immediately and we put together a plan to share with Charlee. I was able to tell Sam while we watched the sun set over a snow capped peak. He is an amazing brother and son. It’s really a bizarre experience to feel so much, and at the core of it all, peace. I’d like to share more details about what it was like telling Charlee…but then again, some details are best left inside the closed doors of hearts that hold so much love and care for one another. Today, she is ready to talk more about it. That takes so much courage. She doesn’t have to, but finding purpose to pain has always been a huge motivation for Charlee. I’m really proud of her. Other than that, her body is recovering from Flu B this week -ugh- and desperately needing a break. She’s had 4 surgeries since March 2025…4 surgeries in a year! . What a friggin’ girl boss. She’s eating well!!!! Looking forward: -4/25- prom-5/8- graduation - too many medical appointments to list**May 21…next fundraiser down in West Bottoms at the AdhDiy Craft Cafe! We are SO excited…more details coming soon.
February 15, 2026
Charlee is still not doing great after a pretty significant setback. Upon our return from the Philippines- where she was thriving and eating well and had energy- she started experiencing severe pain at the GJ site. With her surgeons permission, we chose to pull it out, knowing risks of doing so too early. There was some damage to her jejunum when a dissolvable suture was also pulled prematurely, causing a small perforation. The medical team also found a pocket of infection at the GJ site and the endoscopy showed a severe case of gastritis. She was hospitalized for a week in January.It’s Feb 15, and she’s still experiencing pain with eating and pain around the GJ. We are still holding out hope that it is still needing time to heal and nothing more than that. Last night, Charlee made this awesome video and said I could share it! It’s been a really hard year, and we are taking it a day at a time. Charlee did finish up 2 courses (government and zoology) which was a huge relief! She has an online health class and her criminal justice class left to finish out her Highschool years. I am really proud of her. If you haven’t noticed yet, check out our fundraiser coming up on March 21! It’s a fun night of chili and line dancing! We would love to see you! ❤️👢. Thank you for continued support…Misty
December 23, 2025
Hello all! We didn’t have WiFi so it’s been very difficult to keep this updated! I hope many of you have seen my updates on Facebook. Charlee had her follow up today, and she is doing really well. She ate some frozen yogurt tonight without any pain at all. This is truly AMAZING!!!! Even 1 bite would have caused her debilitating pain for hours prior to this surgery. Dr. Alvear and Dr. Suntay are truly giving LIFE back. We are trying to get out once/day in Manila. I can’t believe tomorrow is Christmas Eve…it is hard to get in the Christmas spirit, I think because we aren’t home and the fact that it is 88 degrees today! I’m very excited to host Christmas at our little condo. We invited the other patients (2 Canadians, 1 Australian) and their caregivers. We also have 1 of our nurses coming. ❤️While Charlee is slowly introducing more foods, we have noticed her Nutcracker Syndrome is still causing pain/severe pelvic congestion. We are holding onto hope for a miracle that over time, it will resolve. Time will tell. One highlight was a group of teen boys who thought Charlee was a cutie…so much so, they SANG to her. She was so shy and socially awkward but also loved every second of it!!! It was truly adorable. Merry Christmas to everyone! We love you and thank you for continued support. -Misty
December 13, 2025
Good evening from Manila, Philippines! I haven’t been able to update on here as much as I hoped. We are mostly on cellular service and it’s spotty, plus I only have my phone so typing everything out takes time. And we have been busy!Charlee had her surgery Dec 11. The surgeons found her duodenum was kinked and twisted. They elongated her intestine and secured it properly. They also reinforced her colon. While we cannot guarantee this won’t happen again, we all hope now that it’s been discovered and fastened to the abdominal wall, the likelihood of reoccurrence is low. Charlee had 4 bites of a popsicle and is on liquid diet. Tomorrow we will introduce soft foods like yogurt and rice and see what she tolerates. We are still trying to manage her pain. As soon as I think we get it controlled, it will spike back up again, so tonight we tweaked the plan again to see how she does. I’m more than pleased with the care we have gotten. Dr. Alvear and his colleague, Dr. Suntay, are amazing! If you want daily updates, feel free to follow my personal Facebook page, Misty Carter Terrell. I will update on here as I’m able!
November 30, 2025
I am THRILLED to report that CHARLEE'S PASSPORT CAME YESTERDAY!!!! What a HUGE sigh. of. relief!!!!!! Our bank loan has not yet gone through, so we have a meeting with them tomorrow. We need to send the funds for the surgery/hospital asap, and thankfully we had some generous donors cover that until we get this loan sorted out. The only other "obstacle" I have this week is getting one medication earlier than our normal scheduled pick up and with insurance approval. It is an expensive med, so hopefully tomorrow I can get that sorted out w/ insurance. I had some overwhelming flooding of panic last night. It's one thing to travel alone...I've done that- even to the country Ghana- and it didn't cause me severe anxiety. But traveling across the world with my medically complex kid who is in chronic pain, without full guarantees that this will help her eat without pain, makes me feel high anxiety. I told Jim my brain feels like an Olympic Game ping pong ball. Having been diagnosed with ADHD does NOT help matter! I'm trying to be very intentional to stay grounded, do my "box breathing", manage my executive functioning by setting alarms on my phone and making lists to check off each day. I'm simply riding the waves of panic when they hit, being extra gentle with myself, and working through it in a healthy way. That way, come a week from today, I'm a source of calm and strength and clarity for my girl. I can't believe we have raised $7,640! WOW! Thank you very very much. While we still have a ways to go, I wanted to remind everyone that if we exceed funding for this particular trip, which would be a miracle in and of itself, we will set any additional funding for more medical travel next year. She has to see a surgeon in Virginia in February, and we will at some point be traveling multiple times to either Utah or Wisconsin for her Nutcracker/Kidney Auto Transplant surgery. We also desperately need to find her a gently used car w/ appropriate Assisted Driving Safety features so she can start her life as a college student/young adult. While Charlee does have her drivers permit, she has not driven much because our older cars are not equipped with the accommodations she needs to do so safely. Help Hope Live will not approve reimbursement for the entire car, but they did approve helping with the higher trim options she needs. Surgery is scheduled for Dec. 11th. We do not yet have a time, and I think we are supposed to zoom with the surgeon(s) at some point this week, prior to our departure.I will do my best to update more regularly when we are in the Philippines. Right now, days are crazy as I get everything in order and all our extra medical equipment, formula, meds, etc needed for 4-7 weeks out of the country. We feel God's presence and even in the state of panic that sometimes hits, I also feel so much peace at the exact same time...so it's very very strange. But an "okay" kind of strange. Sending love. Thank you for continued support, thoughts, love, prayers, energy...we feel it.
November 21, 2025
2 weeks and 1 day away…we still do not have Charlee’s passport as her medical tape flagged Dept of Security. I’m supposed to call Sunday to check progress. If we do not receive it by Dec 1, we will have to drive to Hot Springs, AR and wait in the office until it’s in our hands. Hopefully it comes soon!Today I need to book airline tickets to San Francisco for 12/6. Then we leave SF on 12/7 which is a direct flight to Manila. Breathe. We got this. I’m feeling joy and uncertainty. What an odd mixture.
November 13, 2025
Hi! I thought I’d share a brief update on Charlee. Ty for watching!❤️
October 30, 2025
LIFE SAVING SURGERY IN THE PHILIPPINES!!!The absolute BEST surgery for SMAS/MALS is called the Alvear-Fowlkes procedure. There are currently only TWO DOCTORS in the entire US who are actively following this exact procedure on patients. As you can imagine, they are backlogged. The procedure was created by Dr. Domingo Alvear. He is now in his 80's and travels the world teaching other surgeons how to do this life saving surgery. His first was in 1978, and he has done the most SMAS surgeries world wide. Because he cannot operate in the US, we are going to HIM! In the Philippines! Along with us are patients from Canada, New Zealand, and Australia. We also hope to see another family from Texas, who are considering joining us.We are to arrive in Manila, Philippines in December, and will be required to stay for 5-7 weeks. Obviously, this will be costly, with the surgery costing around $20K. Plus flights, food, etc. Our fundraising goal at this time is $30K. If we do end up with any extra, we will set it aside for her next big surgery or medical care. (We are meeting tomorrow via telehealth with the renal transplant team in Wisconsin.)Stay tuned as we are getting organized in our fundraising and hope to be doing several things in our community! We are also working on setting up some merch with Charlee's tattoo art. I think it will be so cute! Thank you for your continued care, love, support, prayers, healing vibes, thoughts, hugs, and texts. We love you all so much and couldn't survive the past 8 years without you!
October 17, 2025
Charlee had an appointment with a surgeon at Texas Children’s in Austin, TX. It resulted in both insight and dead ends. We have taken some of this doctors concerns back to Children’s Mercy in KC and have several follow ups. 1.) gallbladder scan on Monday- just to rule that out.2.) ultrasound to check for another common phenomenon among connective tissue disorders called “Slipping Rib Syndrome”, which means ribs move around placing pressure on nerves causing severe pain with breathing and GI. 3.) Charlee’s Nutcracker Syndrome has progressed, putting her kidney more at risk and higher priority. We have made a follow up call to her Vascular Doctor at Duke University in North Carolina. (There are no pediatric vascular doctors in KC.) 4.) Texas Surgeon recognizes Charlee may have a nerve related Vascular compression called Neurogenic MALS. He does not specialize in neurogenic, so we were referred to a neurogenic MALS specialist in NYC. Again, there are not pediatric neurogenic MALS specialists in KC. As you can see, finding proper care means travel. This can add layers of stress for multiple reasons, but we will continue to fight to ensure she is getting proper care. To top of off, Jim (Charlee’s Dad) isn’t getting paid during the government shutdown. We have lived through shutdowns before, but the timing of this one is definitely not ideal. Because of that, buying a car is on hold. Yet, we press on! This weekend I’m doing some photography pop ups to benefit this catastrophe fund! I’m hoping for a good turn out and hopefully great weather! I’ll update next week after her imaging! Thank you for continued support! ❤️
October 4, 2025
Charlee & Jim just got back from a short trip to Austin, TX to visit a surgeon at Texas Children’s Hospital. We are still waiting for a follow up call after some imaging. The frustration with vascular compressions is…very few doctors are specialists. It’s extremely important to find a knowledgeable expert which makes it a very difficult and challenging process. It requires so much effort on our part to do loads of research and being an active participant in support groups. We learn so much from others in our same situation!We need to check, double check and triple check for MALS. From what we are learning, it can take multiple attempts at same imaging, and also requires nerve block to assess. This is our next step.
September 26, 2025
It’s been a full week of school and appointments. Every week, Charlee goes to physical therapy and pain management. This week we also followed up with GI, and we officially got a referral for a MALS surgeon in Austin, TX. He will tell us what additional tests he wants done to determine if she does, in fact, have MALS. She is working hard to catch up on school work. Tonight she gets to see one of her best friends from elementary school years, and late tonight we may go to a haunted corn maze! I think I’m more excited than the teens. Getting to and from Austin will be another expense that will be ongoing for a bit. We appreciate your support. -Misty
September 25, 2025
Charlee Update: Charlee was recently released from the hospital but we were left with more questions than answers. Her pain is often unbearable. She cannot eat anything at all, so she’s back on NJ tube. NJ is a tube that goes into the small intestine, bypassing the stomach. (Since food increases her pain.). CMH did a good job stabilizing Charlee and monitoring her as she slowly transitioned over to tube. (You can look up Refeeding Syndrome for more info.)While the tube is keeping her alive, it doesn’t manage or fix her pain. The pain is now almost always constant. We had a follow up yesterday and I had messaged our GI with a request. Please carefully review all recent imaging and see if there is any indication of MALS. MALS stands for Median Arcuate Ligament Syndrome. Your diaphragm (the muscle you use to breathe) has a fibrous band called the median arcuate ligament.In some people, this band presses down too tightly on the celiac artery, which is a major blood vessel that supplies blood to your stomach, liver, and other organs.This pressure can also irritate the nearby celiac nerve bundle.GI found 1 report that noted narrowing of the celiac artery. Ding! Ding! Possible MALS. However, no formal dx yet, as more tests will be ordered. CMH doesn’t have a MALS expert, so once again, we are looking at specialists across the nation. Stay tuned! So…she’s still trying desperately keep her head above water at school in the midst of yet another medical crisis. 💔I wanted to share GOOD news too! Charlee met another senior girl who lives in KC and has MALS & SMAS just like Charlee! She was admitted at same time, and has a G tube now. Char has been saying for years she wished she could find a buddy locally…and she has. So proud of these young women. In addition, she got a couple visits from therapy dogs. 🐶 so even though hospital stays suck, we loved connecting with new buddies. ❤️She also painted a beautiful heart…it’s now hanging on her bedroom wall and it’s definitely a favorite. Sam was able to hang with his friend’s family in Colorado while charlee was hospitalized. This helped us immensely. He was in the mountains, (his therapy) and got to summit his second 14er. I was teary I was so proud of him! Chronic illness is tough for siblings too. ❤️
