Help 17 year old Sofia to eat again

Our daughter needs immediate medical care

This is a humbling experience, but we are in a desperate situation and asking others for help is a last resort. I am open to any suggestions.

As of this date, we are scheduled for her to have surgery in California on the 28th of March 2023 with one of the very few surgeons qualified to treat ONE of her issues. A portion of her small intestine is being compressed by her superior mesenteric artery and she is receiving nutrition through a central line that goes to her heart. She needs to eat again!

Feel free to read on if you’d like to learn more about Sofia.

Up to around age 11-12, Sofia was a relatively healthy girl. The allergies, asthma, and anxiety started around this age, but that was managed fairly well. At the beginning of 2018, we were actively searching for a home in the Springboro area. It was our dream to be a part of a community such as this. Our daughter, Sofia, was particularly excited, as she had heard so many great things about the schools here. But unfortunately, she hasn’t had the experience she dreamed of. At the end of January, Sofia fell while playing volleyball in gym class while we were still in Kettering. The following week she complained of pain and a “popping” sensation, but didn’t think too much of it, until one day, she leaned forward in band class to grab her instrument, and there was a loud pop and searing pain that landed her in the ER. She was diagnosed with an avulsion fracture and was told she would be walking within a week. She did not have an avulsion fracture, and she did not walk for four months. She couldn’t move her leg at all. Her leg was discolored, and she was in constant pain.

Five orthopedic surgeons (Dayton and Cincinnati Children’s and Beacon), two pain doctors, a pain psychologist, PT, two chiropractors, several X-rays, and an MRI later, and still no answers. Until finally, the last orthopedic surgeon said he thought it was a soft tissue problem, not an orthopedic one. Anyway, on June 19, 2018, Sofia was “cured” by a steroid injection into the iliopsoas (thigh muscle). We had moved into our Springboro home during all that, and we were all so happy to finally take a break from all the doctor’s appointments and focus on getting settled into our new home. Sofia was looking forward to eighth grade and a fresh start with no crutches or wheelchair and manageable pain. She signed up for winter guard, seemed happy, and slowly making friends. But nearing the end of 2018 she developed more pain throughout her body. She dismissed it and wanted to continue with winter guard. Well, our family doctor would not sign off on her sports physical. She said that Sofia’s shoulders were too unstable, and she could get seriously injured and referred Sofia to Cincinnati Children’s genetics. Sofia was devastated!

In January, Sofia was diagnosed with Ehlers-Danlos Syndrome Hypermobile type. She scored 9/9 on the Beighton scale. Dr. Blacklidge said, “my dear, you are an over-achiever.” Her sweet voice and those words haunt me. At that time, we had no idea what that meant, but she explained that EDS is a genetic disorder that prevents the body from forming collagen correctly and that everything in the body is made up of the protein, collagen. We were given a stack of handouts on how to help with many of the co-morbid conditions that go along with EDS, which I took one glance at, and promptly filed away in Sofia’s ever-expanding medical folder. Most didn’t apply at that point. Her problems were mostly joint pain, asthma, and allergies. I recently found all those handouts, and cried, because she now has developed all of those conditions and much, much more. Sofia’s health deteriorated quickly from there. She spent a lot of time at PT and OT and aqua therapy, and even doing water aerobics at the Y with all the sweet, elderly people trying to maintain her mobility.

At the end of 2019, she spent a month in an inpatient pain rehab program, at Cincinnati Children’s, where she was to learn to function through the pain without medications. In some ways, it helped but later found it to be a traumatic experience that she still deals with. In early 2020, she began having severe GI issues, and got to the point where she was vomiting every day, and living off of Ensure shakes. She was losing a lot of weight and had no energy. As everyone knows, this was horrible timing with the pandemic going on. Once again, we were trying to find a doctor who could help, but no one knew what was going on. She had a “normal” gastric emptying scan, but throughout that day and evening, she threw up the chalky white oral contrast. She was diagnosed with constipation and did a bowel clean out which brought her no relief. On May 20, 2020, she was admitted to the hospital, unable to keep any food or liquid down at all. She left the hospital, eight days later, with a nasal feeding tube that bypassed the stomach and went straight into her intestine. Her stomach wouldn’t hold anything. They did an endoscopy which showed a “bumpy” stomach lining. Her diagnoses were functional dyspepsia and functional abdominal pain. Meaning they had no clue! Her allergies were out of control at this point also. Mast cell activation syndrome/disorder (MCAS) we found out is a common EDS co-morbid condition.

Over the next few months, Sofia was able to put on much of the weight she had lost before the tube. The problem was that every time she tried to eat, and sometimes when she didn’t, she would throw up the NJ tube…13 of them to be exact. Within three months, we made thirteen trips to the hospital to have interventional radiology put them back in place until she finally ended up with a surgical GJ tube at the end of July.

While all this was going on, Sofia developed motor and vocal tics. Off to the neurologist twice, who finally diagnosed her with anxiety, and referred her to another psychologist. She also developed worsened hearing loss and ear pain around this time. Sofia was stable on the tube feeds for several months, but was still unable to tolerate anything orally. What little she did consume was usually liquid, enabling her to drain from the G portion of her GJ tube and prevent vomiting. Sofia’s GI doctor finally referred her to a motility specialist who wanted to place a gastric stimulator on Sofia. But at that appointment, Sofia’s tics were obvious, so the doctor ordered an MRI as a precaution. That MRI revealed a significant Chiari 1 malformation (a herniation of her brain stem into the spinal canal). She also had a syrinx (a fluid-filled cyst in the spinal cord). She had Chiari decompression surgery on February 2, 2021.

Since then, Sofia has had 3 major surgeries, several minor ones, countless tests, and specialists and surgeons. I could write a book on all that happened between the Chiari diagnosis and now.

Places we’ve traveled for testing and surgeries include:

⁃Cincinnati Children’s for Chiari, GJ feeding tube surgery, inpatient pain rehab, and countless other procedures and such

⁃Nationwide Children’s in Columbus for three weeks

⁃Connecticut for open MALS surgery for one month

⁃Baltimore for testing for 4 days

⁃Utah for testing and kidney autotransplant for Nutcracker syndrome and May Thurner surgery, then inpatient rehab for seven weeks total

⁃Cleveland Clinic

⁃New York for immunologist for 3 days

⁃Toledo for a vascular surgeon

⁃She’s also spent some time in the local Dayton Children’s hospital for sepsis from a UTI, TPN management, and port replacements.

At the end of February 2021, Sofia was still recovering from Chiari decompression surgery, when her GJ tube clogged and was replaced. A few hours later, we were home, and she said that she could taste the liquid that was supposed to be going into her intestine. The radiologist had never seen it before, but her GJ tube had migrated up into her esophagus. He was able to replace it, but after that, feeds became painful, and her tube kept flipping into her stomach or esophagus, until one time, the interventional radiologist couldn’t even get the tube into her intestine, and left it coiled in her stomach, while I drove her to the main campus. They were finally able to get a GJ placed, but Sofia was in excruciating pain, and unable to tolerate anything through the tube. They had no plan except to admit her with no pain control and continue forcing feeds that would not stay down. We left the ER of that hospital in the middle of the night and took her to a different Children’s hospital, where she was again admitted, and they tried many times to replace the GJ tube, but it would either coil right back up, or would be too painful to tolerate any feeds, so they pulled it, and put in a G peg tube just to hold the stoma open. After several days of only IV fluids, she was given PPN (peripheral parental nutrition) and eventually, a PICC line for TPN (total parental nutrition). During this hospital stay, she was diagnosed with MALS (median arcuate ligament syndrome) by an outside vascular surgeon I had contacted months earlier, via a successful celiac plexus nerve block, and a CT scan was done while inpatient, which showed her diaphragm was too low. MALS is a compression of the artery that supplies blood flow to the abdomen and/or the celiac plexus nerves. The pain from MALS mimics end-stage pancreatic cancer. After her celiac plexus block, Sofia ate so much…a huge burrito, muffins, Fritos, and more without any pain at all! She even took a nap after eating all that and slept peacefully. It gave us an answer! However, about 8-10 hours later, the pain and the vomiting returned. The hospital Sofia was in discharged her with TPN ordered, along with home healthcare only long enough to bridge her to surgery two weeks later. We came home and prepared to travel to Connecticut.

Surgery was on April 1st. The surgeon removed her G tube which wasn’t working anyway, and also removed the painful PICC line with the agreement that if she still could not eat that he would place a port. Sofia thought her MALS surgery had failed. She was still unable to eat, and by this point, all her peripheral access was destroyed. They had to place a port.

When we got back from her MALS surgery in Connecticut, Sofia was still unable to eat but had no one to help. No one at either of the larger hospitals would order TPN, so she ended up back in the smaller Dayton Children’s hospital where we finally found a wonderful, compassionate GI doctor who manages the TPN that’s keeping her alive.

The recovery from MALS surgery was tough, to say the least, as her incision pain faded, she realized that her pain had shifted. It was no longer under her sternum, but mostly in the left flank area. I contacted her vascular surgeon’s PA in CT who advised that we have her evaluated for other midline compressions such as Superior mesenteric artery syndrome (SMAS) and Nutcracker Syndrome (NCS) because they were seeing so many patients who had these conditions, and any of these conditions can cause pain and GI problems. Her MALS surgery was technically successful because her MALS pain was gone.

I began researching doctors who specialize in Nutcracker Syndrome since the pain seemed to be coming from the area of her kidney, and Nutcracker Syndrome is a compression of the left renal vein. She’d also had a few urinalyses that suggested an issue. Since I had a CT scan on a CD, I was able to burn copies and get those sent out to three surgeons, Dr. N, Dr. K and Dr. Z. We ended up doing a video visit with Dr. N, a vascular surgeon in Baltimore, who could see that Sofia’s left renal vein was compressed between two arteries, and he could also see that her left iliac vein was also being compressed. He could also visualize a large collateral vein coming off of her left renal vein, going through her spine. He recommended a kidney function test, a venogram, and a duplex ultrasound. Ugh!!! No one around here knew anything about these tests, so we traveled to Baltimore to have them all done by him.

His tech performed two types of ultrasounds that showed Nutcracker (NCS) and May-Thurner (MTS) Syndromes. He came in and repeated the testing himself to confirm. The next day, he did a venogram with Sofia awake. He pointed out that her left renal vein was 92% compressed, and that her iliac veins were also significantly compressed. He could recreate her flank and back pain when he injected contrast that filled her left renal vein and the very large collateral going through her adrenal gland and spine. He said her body was creating many collaterals to divert blood flow, and that she needed surgery. He offered to treat the NCS by moving the kidney (autotransplant or AT) or removing it (nephrectomy), but he would not treat the MTS, because all that was available were stents, and he didn’t feel comfortable putting stents into such a young person.

Soon afterward, we had an appointment with Dr. K, another vascular surgeon who was also in Baltimore. He reviewed her CT scan and venogram and agreed with the diagnosis of NCS and MTS. He pointed out all the compressions and collaterals that Dr. N saw, but he offered a left renal vein transposition (LRVT) and stents for MTS. We did not like either of these choices with research showing a high failure rate. So, we set a surgery date with Dr. N.

In the meantime, Sofia’s left leg pain worsened, so we were worried about MTS not getting addressed, and I reached out to Dr. Z, a transplant surgeon in Utah. We had heard that Dr. Z offered a way to help with MTS without stenting the iliac vein, in addition to moving the kidney (AT). Being a transplant surgeon, he was against removing a healthy kidney. Dr. Z agreed with Dr. N and Dr. K, but would not do surgery unless all testing was repeated in Utah, and also a renal hilar block. At that point, Dr. Z had performed 126 auto transplants and was by far the most experienced surgeon.

We traveled to Utah the day before Thanksgiving to begin testing that Friday. All testing aligned with what Dr. N found. She had a successful renal hilar block, the pain was gone, and was able to eat, but just as with the celiac plexus block that was done to confirm MALS, Sofia vomited everything up hours later when the block wore off, and the pain returned. Surgery was done on December 9th. This was by far the hardest surgery of all. It set off Postural Orthostatic Tachycardia Syndrome (POTS) and Mast Cell Activation Syndrome (MCAS) insanely! She spent two weeks in the hospital, then another two weeks at a nearby rehab hospital. She couldn’t stand up at all without passing out. It was a terrible assault on her body, but it was successful in that her kidney and leg had normal blood flow, and her back and flank pain subsided. However, she still couldn’t eat. In fact, at this point, she could no longer keep her medications down. And the only way to get her back home to Ohio is with fentanyl pain patches and IV Benadryl prescriptions. We came home from Utah on Jan 7, 2022.

We have known since then that SMAS is likely because it is caused by the same anatomy that causes NCS. SMAS is a compression of the third portion of the duodenum (small intestine). But since Sofia’s body couldn’t possibly tolerate another surgery, and disagreement about whether or not she even has this, we have set aside pursuing treatment for over a year.

Sofia is doing surprisingly well with the support of doctors we’ve pieced together along the way. She has an amazing, positive attitude! Her GI doc says she’s “critically stable”. But TPN is risky and can have long-term consequences, and we know one central line infection could end her life.

Sofia will tell you that all these surgeries were brutal, but they have helped in many ways. Her ear pain and hearing loss have stopped, her tics are nearly gone, and most of her constant abdominal pain and leg swelling have diminished. She is even on target to graduate on time this year with the amazing support of her counselor and principal at Springboro HS. They’ve set her up with a condensed online program, and she’s killing it! The biggest problem is that she still can’t hold food down, and her immunologist believes this may have triggered an autoimmune response, requiring some pretty heavy medications that, like TPN, should not be used long-term. Right now, food =pain, nausea, vomiting, and horrible burning rashes.

We have found someone who believes he can help Sofia, but it will require more traveling for testing and likely surgery to bypass the obstruction. The good news is that if she is a candidate for surgery, this surgeon does a minimally invasive, robotic-assisted procedure. Most other surgeons are doing it “open”. The bad news is that he is in California. Also, she may end up needing inpatient IVIG to get her autoimmune condition in check.

So, this brings me back to the reason for sharing all this. We are tapped out! I work three 12-hour shifts per week (Sat, Sun, and Wed) and pick up extra hours through the week when possible. I have a wonderfully accommodating employer, which allows me to take care of Sofia, and get her medical care. And having good insurance has literally saved her life! Twice, we’ve had instances where my husband and I were out of work. I had a hysterectomy Dec 2020, and my husband fell and had a temporal artery bleed last September. My husband is trying to keep his business afloat while managing things at home whenever I’m away. We also have an 11-year-old son, and no family is here to help us. We’ve flown him to NY to stay with his grandmother, and have flown her here twice to help care for him. We have accumulated a huge pile of debt along the way, and all our credit cards are maxed out. I am trying to pick up as much work as possible when overtime is offered, and I just started delivering door dash. Whatever it takes, I refuse to leave my daughter in this state of health with no progress in treatment.

We are in desperate need of creative ways to raise funds. If you’ve gotten this far, thank you for taking the time to read this. Believe it or not, this is the short version.

Sincerely,

A very tired mom-

Deanna