Protein-losing enteropathy (PLE) is a rare but significant complication of complex congenital heart disease in children. In this condition, the normal vessels (called lymphatic vessels) that carry fat and proteins from our diet into the circulation make abnormal connections back into the intestinal cavity. When this happens, there can be significant spillage and loss of essential blood proteins into the stool. Over time, PLE leads to malnutrition, an inability to fight infection, and if not corrected will cause early death.
In Gracie’s case, innovative surgical approaches were required following her 1st 2 open heart surgeries to treat intractable fluid draining into her lung cavities. As a result, her lymphatic vessels found a way to connect with the intestines to spill vital proteins into her stool. Over the past 2 years, Gracie has undergone multiple medical treatments and surgeries with hopes of slowing down the loss of protein. Unfortunately, these interventions are becoming less effective, and now Gracie has stopped growing in height or weight over the past year, despite intravenous infusions of protein 3 days a week. At this point, we are simply trying to buy her more time.
Last year the doctors in Tucson consulted with San Diego and Children's Hospital of Philadelphia (CHOP) who are known to specialize in PLE and reassured our team of doctors that we were providing all the appropriate PLE treatments, despite her not showing a significant improvement. There was a catheterization procedure available but had NEVER been done on a child who presented with Gracie’s GI complications. When Gracie’s condition started to decline we had to broaden our search in hopes to find some way to save her because giving up HOPE was not an option!
Clinical experts from Italy have recently identified new procedures to block and re-divert the abnormal lymphatic vessel connections that might prove to be of great benefit for Gracie, but this is an invasive surgery and due to the doctors being out of the country complicates things further.
As of March 4th, 2015 Gracie has taken a turn for the worse! She is currently inpatient and unable to stabilize her sodium levels which is VERY dangerous. She is suffering from constant pain, unable to sit for long periods of time or even walk. Gracie's bones are becoming so fragile due to the long term steroid use that you have to be VERY careful when you pick her up or move her. The doctors here at Banner University Medicine had a conference this morning with the doctors at CHOP and feel that Gracie's best option is getting her to CHOP as soon as possible and performing a catheterization procedure to try and coil off the lymphatics that are large enough to be done in the cath lab. Again, there is not a guarantee this will completely correct her issues. This could simply be the stepping stone we need to buy her more time and figure out a way to get her to Italy or get the Italy doctors here.
The Robinson's have been through so much the past 4 years and the financial strain it has caused on the family is tremendous. Due to Gracie’s condition she is unable to go to daycare so her mother, Lisa, has been a stay-at-home-mom to provide Gracie with the best care and environment. Gracie is the youngest of 7 children in the Robinson family. The love and dedication I have seen from them over the past 4 years is just amazing. Gracie’s father, Pat, has worked VERY hard as the sole provider for his family and to ensure Lisa could remain at home with Gracie. Due to the multiple and increasing hospital stays and Pat having to take some time off work the bills are adding up. It is my hope to help lift some of the financial burden off their shoulders, especially as Pat has to take time off work to travel to CHOP. I want them to be able to focus solely on Gracie during this difficult journey that lies ahead.
In the event they reach and surpass their goal, the Robinson's would also love to start a non-profit for PLE to support research and help families going through the same battle.
Here is Gracie's story from the beginning:
Our Sweet Gracie Girl's journey started over 4 years ago while I was pregnant with her. We found out she would be born with 4 major heart defects. On January 27, 2011 our little miracle joined this crazy, beautiful thing we all call life. She was born with L-transposition of the great arteries (her pumping chambers were reversed, meaning the right ventricle was pumping blood from her heart to her entire body and back which it's not built to do), two big holes in her heart...an ASD (atrial septal defect), a VSD (ventricular septal defect), and pulmonary atresia (the pulmonary valve did not form properly). At one week old she had her 1st heart surgery where a BT shunt was placed in her aorta connecting to the pulmonary artery allowing blood flow into her lungs.
We had a nice little scare shortly after surgery once she was brought to the PICU. She ended up with pulmonary hypertension (where the muscles contract around the heart preventing oxygen to the lungs). Her oxygen level dropped down to 5%. As we all sat there helpless while they worked on our baby girl to bring her back to us I think the realization of what our life was to entail officially set in. After about 2 hours, the amazing PICU staff, her heart surgeon, Dr. Michael Teodori, and by the Grace of God our lil’ miracle was once fighting her way back to us.
For the next 15 months she was your typical little girl exploring anything and everything with a zest for life. During those 15 months she had one heart catheterization. Gracie has a way of making everyone fall in love with her. With her contagious smile and charismatic personality she is wise beyond her years...an old soul if you will.
On May 14th, 2012, Gracie went in for her full corrective, double switch procedure (her first open heart surgery, 2nd heart surgery). The surgery was an agonizing 10 hours or so. During her recovery of about a month in the hospital she developed Chylothorax (where lymphatic fluid accumulates in the pleural cavity) on her left side. A chest tube was eventually placed to drain the fluid. Countless x-rays were taken over the next couple of months. She ended up with an infection in the chest tube which happened to be a blessing in disguise. Due to the inflammation from the infection the pleural effusion dried up. However, it decided to jump to her right side and started collecting there. Another chest tube was placed to drain the fluid immediately but because this had already gone on for a long period of time her doctors decided to do surgical pleurodesis in August 2012. This is a very painful surgery where they irritate the lungs and the chest wall, resulting in swelling and closure of the pleural space. During these 4 months we were in and out of the hospital the entire time.
Finally on Sept. 1st she was admitted into the PICU for a long and grueling 79 day stay. During this time Gracie continued to get more and more sick. She was not able to hold anything down, including water. She was constantly throwing up. She had a feeding tube (a NG tube) placed in her stomach for her feeds. This eventually was switched to a ND feeding tube (where the tube is placed into her intestine to bypass the stomach). The doctors left the NG tube in her stomach to suck out any excess fluid while the ND tube was now used to feed her.
On Sept. 25th, 2012 Gracie ended up having a 2nd pleurodesis surgery on her left side. Things continued to get worse for our Gracie and the doctors couldn't figure out why.
Those 5 months were by far the hardest we had to go through since she was born. Watching our baby girl slip away not knowing what was originally wrong made us feel beyond helpless. We watched her continuously throw up all day long, we watched her go through ICU psychosis, we watched her stay awake for days at a time and during all of this she still managed to make everyone's heart smile as we walked the hospital halls with her as she smiled and said hi to everyone.
On Oct. 18th, 2012 Gracie went in for a heart cath to check her pressures and possibly coil some of the collaterals that had formed for extra blood flow to her lungs. After about 6 hrs of being under anesthesia the doctors realized the heart cath wasn't the answer. It appeared that everything that had been done just 5 months earlier during her full corrective, double switch procedure was failing. Five days later Gracie was back in the O.R. for her 2nd open heart surgery (3rd heart surgery) to revise what had been done previously. The surgery was a success and the next month went pretty smoothly with her recovery. We were able to leave our home away from home on Nov. 22nd, 2012.
Unfortunately, during our stay over those 6 months Gracie was also diagnosed with something called PLE or Protein-losing enteropathy. PLE is an abnormal loss of protein from the digestive tract or the inability of the digestive tract to absorb proteins, which leads to malnutrition. This is something that was a result of her heart surgeries and the disruption of her lymphatic system. It is typically seen in children who have had the Fontan heart surgery, which Gracie does NOT have. So this makes Gracie's case even that much MORE difficult to navigate.
We have been dealing with this condition since the end of 2012. Over time it has gotten significantly worse. Gracie was started on steroids in February 2013, which is the typical treatment for PLE. Then in January of 2014, Gracie was unable to keep her protein levels within normal range so she began receiving weekly albumin and IVIG infusions. By May 2014, her symptoms were not improving so she was also added on a regimen of heparin and Viagra which have been known to be beneficial to PLE patients.
Back in Oct. 2013, after uncountable pokes, blood draws, and IV's Gracie had a port-a-cath placed in her chest in order to get her blood draws and receive her weekly transfusions. She also had a feeding tube placed in her stomach in hopes of increasing her nutrition. Just 4 days later her port stopped working so they had to go in to do a revision of her port. After 6 months her revised port-a-cath clotted off and she had to have her 3rd port placed in April 2014.
During her once-a-week home infusions they quickly realized her port was not working and her tissues began to fill with fluid around the site. This once again placed Gracie back in the hospital. On May 9th 2014, two days before Mother's Day, she went in to have another port placed but this time in her iliac vein because everything in her chest was clotted off.
At this point, none of the meds that typically cure the PLE have worked and we are simply buying Gracie time. This has left our amazing team of doctors here at Banner University Medicine searching for answers and a way to save Gracie’s life.