My name is Tiffany, and I’m sitting here next to my Ashlee. She is 7 years old and has Familial Adenomatous Polyposis (FAP)/Gardner’s Syndrome. We decided we would tell her story. Which, really is our story.
Ashlee had a perfectly normal childhood up until age 5. In October of 2012 she had a series of seizures, the last of which caused her to stop breathing and turn blue. She was rushed to the ER and transferred to Children’s Hospital in Washington DC, we live in Southern Maryland. So she was diagnosed with Epilepsy, and we felt this was so awful and such a horrible thing to happen to our sweet girl, this was only the beginning unfortunately. You see Ashlee is my biological niece. My husband, Sean, and I have had her since birth, along with our other niece, Mandy, who is 10. They are our babies, and will always be our daughters, even if not biologically.
Well, so as we adjust to all the new meds and emergency precautions that are tied to Ashlee’s Epilepsy, I get notified that in December I have to go into child support because the state apparently had just realized I was not getting any from either of their dads. Well, when we went to child support I got to meet Ashlee’s biological father for the first time, at which he tells me of his diagnosis of AFAP (Attenuated FAP), and that Ashlee should be tested. I said ok, because I had no idea what it was. So we took Ashlee to Children’s National Hospital in Washington DC, to the genetics clinic to be tested. She already had an appointment for genetic testing because her sister has 15Q13.3 Microdeletion Syndrome, and we wanted to ensure that Ashlee did not have it as well. It takes about 6 weeks for the tests to come back.
Ashlee has a wonderful genetics counselor who I believe has gone above and beyond for her on many occasions, and I assumed Ashlee would test negative for FAP, I was so very wrong. When the genetics counselor called me, and told me, I was numb, and when I went to tell my husband I just cried and cried. I had Googled FAP and naturally all I found were the most horrible of statistics. My husband assured me we would get through this and that we need to take the next steps. So we went in and met with the genetics counselor who told us where Ashlee’s mutation on APC gene was, and that she would start being tested via colonoscopy in a few years and then at some point in her twenties she would have to have her colon removed or she would 100% get colon cancer. I had so many questions swirling in my head and just couldn’t really speak, so we were referred to the GI department.
When Ashlee was seen by the GI, it was explained that polyps don’t start forming until the preteen years and she would begin getting annual colonoscopies starting at the age of 8. I sat there thinking, “3 years? They want to wait 3 years before they scan?” So I told the GI I didn’t want to wait that long, I wanted to have at least a baseline to go by. I could tell she thought I was being a bit neurotic but she agreed to do it. It was to be done under general anesthesia the following week.
On March 7, 2013, Ashlee went into the hospital for her procedures, a colonoscopy and endoscopy. The GI said if they saw any polyps, which she highly doubted, she would zap them and still take samples for biopsy. I was trying not to be too paranoid, but my baby was having anesthesia and polyps and I was freaking out and trying not to show it. SO before Ashlee went back she gave me a big hug and said, “Mommy I don’t know why you are sad they are just going to put a tube up my tushy, you do that every time I’m sick, it’s just a bigger thermometer! I’ll be brave for you, you can hold my teddy bear, and she will help you be brave.” Ironically, holding onto her teddy helped me through the hour and a half she was in the OR. When the doc came out I just had a really bad feeling. She pulled me into the conference room, first telling me Ashlee had no problems with the anesthesia and was already in the recovery area. Then began telling and showing me what she found. Ashlee had 89 polyps in her colon, 22 in her rectum, and a large adenoma (benign tumor) in her rectum as well. There were too many polyps to remove, there were all between 2mm and 3mm in size, so the GI was going to refer us to a surgeon.
Now my worst fears, I thought, had come true, or so I thought. The GI had been completely astounded that there were some many polyps in there already and was thankful I insisted on the scans. When we saw the surgeon the following week on March 12 to see what options were in store for Ashlee. I was hoping for something positive, but prepared for the worst. Her biopsies came back as being precancerous. Her colon needed to be removed, they were going to create her a j-pouch, which I had never heard of, and make her a temporary ileostomy for while the j-pouch healed. They were also going to remove the lining of her rectum to help keep polyps from being able to attach there so easily. The surgeon was wonderful and answered all my questions, he told us they were going to try to do the surgery laprascopically, if possible. But if they got in and there were issues that arose, they may have to do a full open surgery cutting her down the middle. He told me surgery could take anywhere between 2 hours to 10 hours, but they would have a nurse update me every hour. They were going to have the surgery scheduler call me the following day to set everything up. I’m still numb at this point, and try to keep it together for Ashlee.
I go home, and go on Facebook and met a wonderful young woman, named Alyssa. She has FAP too, but is defying her genes and still has her colon and is polyp free. She knew about the FAP foundation, and was able to get ahold of a nifty resource, a coloring/activity book called “FAP and Me”. It broke down Ashlee’s illness in a way she could understand it, and for me as well. Ashlee understood what was going to have to happen, and was not scared at all. I wish I could have been. The scheduler called me the following day to schedule Ashlee’s surgery. It was March 13, the surgeon wanted her to be put in as soon as they could do it, so she was scheduled for the following week, March 21, her 6th birthday. So in the midst of preparing for Ashlee’s surgery, I also had to cancel all of her birthday plans as well. She was a champ through it all though. She did however insist on wearing her new birthday dress to the hospital the day of surgery.
As Ashlee and I were preparing to say goodbye, Ashlee told me a secret. She said, “Mommy, last time I was wondering if my tushy would hurt when I woke up, and that’s the first thing I thought of when I woke up too! So this time I am going to think about how much mommy loves me so I can be smiling when I wake up.” I told her I was proud of her and went out to wait. Her surgery took a little over 5 hours. The surgeon came out and told me everything went great and that she was in recovery doing well. However it took longer because her polyps went from being 89 in the colon to over 400 and had all doubled in size, and the adenoma had tripled in size as well, and they took more biopsies.
Ashlee has a high pain tolerance, so she was up the next day after surgery. It was child life week, so there were all kinds of activities going on. That day it was “slime the doctors”. They filled syringes with jello and the kids got to slime their favorite docs. Ashlee was put on Morphine for pain around the clock every 3 hours. Ashlee doesn’t really tell you if she is in pain, however, she was having some blood and greenish mucus coming out so the docs ran some blood work, and this was on March 23. That evening they came in, my husband had brought Mandy up to visit, and her and Ashlee were sitting on her bed eating macaroni and cheese and playing Candyland. The docs had a resident talk and interact with the girls, while 3 surgeons pulled my husband and I outside into the hallway. Ashlee’s blood work wasn’t good, and while she presents as doing really well, the blood work says otherwise, and to be on the safe side they were going to do emergency surgery and go back in and make sure everything is ok. So they prepped her, giving her an NG tube because she had been eating, and took her in for surgery. She had a massive leak, an abscess, and her abdomen was full of feces and puss. It was so bad she ended up needing a JP drain for 2 weeks. They did the surgery in the nick of time, much longer and it would have been dire for her.
Ashlee came home with the temporary ileostomy, we lovingly called it her little meatball, and things with the ileostomy went well, no leaks, no skin breakdown, no nothing. She got a blockage once, but nothing too horrible.
On May 28, Ashlee went in for her takedown. We thought that this was the beginning of her new way of life and things would be smooth sailing, not so much. Ashlee’s surgery went great with no complications. She was discharged only 3 days later. She was in for 10 days after her first surgeries. On our way home, we live 2 hours away, she started vomiting, so we turned around and went back to the hospital. Turns out Ashlee got her first case of ileus (where the bowels go to sleep), coupled with a C Diff infection, which is rare for those without a colon. Ashlee had to be put on isolation, and get a picc line and TPN (liquid nutrition). She was in the hospital for 14 days.
After this last hospitalization Ashlee seemed to be prone to ileus and blockages, in and out of the hospital 23 times from June 17th to October 10th. It seemed we were going in circles and her pain was constant and nothing was being done for her. Someone from one of the Facebook FAP groups contacted me and told me there was a pediatric FAP specialist at John Hopkins in Baltimore, Maryland, which was only a little further away than Children’s and at this point they were pretty clueless at what to do for her. Her last hospitalization at Children’s on October 10th ended with me knocking out a Pediatric GI resident that we had never met, who tried to tell me that Ashlee’s pain was “in her head”. In the process, I broke my right hand and his cheekbone, which ended up needing surgery.
I decided to give John Hopkins a try, I mean they couldn’t do any worse than Children’s was, because they weren’t doing anything, in fact her surgeon said he didn’t know what else to do for her. So we started at John Hopkins. It was such a relief to find a doctor, a GI, who not only knew what FAP was, but was currently treating pediatric patients with FAP. Ashlee’s pain was originating from gas and a bacterial overgrowth. She began a regiment of 2 weeks on Flagyll and then 2 weeks on Rifaximin, and has been on that since October 18th, 2013. Since then they also added an antispasmodic, tramadol, neurotin, and phenegren. She still gets ileus about 1-2 times a month requiring a 2-7 day hospital stay. She has a picc line again, and is getting a liter of fluid 1-4 times a week depending on how dehydrated she is.
She hasn’t been to school since September because of all the pain, blockages, ileuses, hospitalizations, etc. She has a home hospital teacher who is wonderful, and really cares for her wellbeing. Due to all she has been through, she has severe food and eating anxiety, and weighs less now than she did before her surgeries. She is at 53 pounds. Ashlee is very brave and very inspiring. She is good at distraction as a mechanism to get through her pain. She learned early on that crying makes her hurt worse, so she refuses to. She will tell jokes, dance, sing, or just act goofy to take her mind off the pain. She loves hello kitty and wants to have 100 of them before Christmas, we are currently at 57, and are always on the lookout for new ones. She was dealt a blow in January when Make-A-Wish denied her a wish stating she “wasn’t sick enough”. She decided then that Make-A-Wish needed to be taught about FAP so she spent 2 weeks writing them a letter telling them about her FAP. She still got no response, but won’t let herself get down. She has so much energy, so much life in her. She doesn’t let it get her down. I stay at home with her, going to school, I’m actually taking my last class for my Master’s degree, so I can teach with a higher education institution online, so I can be here for her always.
We have a great support system, but everything still gets to her from time to time, and me as well. I try to be that strength for her, but honestly, she is the one that gives me strength. On February 3, we got a call from her GI, he said he finally got all her records from Children’s, apparently those biopsies they took after her first surgery showed that she had cancer, stage 0 Colon Cancer. I was livid and so upset, but her doctor said that it was detected early enough that no further treatment was needed other than being closely monitored. And Ashlee’s friend, and mine, Adam, had just lost his hair due to his chemo. Ashlee has long hair, all the way to her butt, and wanted to shave her head, donate her hair to make wigs for kids with cancer. I was so moved, but didn’t want her to do something like that to herself, but I admired her heart and dedication. SO I told her I would shave my head instead. I was able to donate 38” of hair and they were able to make 3 pediatric wigs with it. Ashlee is a colon cancer warrior, she gives people an earful when they give her those pity looks when we are out and about. She has a “polyp fighting ninja” shirt and a “FAP takes guts” shirt she wears pretty often. She loves to tell everyone how she kicked cancer’s butt.
Online resources, especially those on Facebook have been great. But the problem is some people sometimes, although meaning well can cause pain to caregivers who are doing the best they can. And because Ashlee has been such an inspiration, I started her own Facebook group called “Ashlee’s Page of Inspiration” to have a place to put updates, pictures, her jokes, and post questions from those positive influences friends we have found in the online FAP community. I welcome any who would wish to join, it’s a secret group, but Todd always knows how to get ahold of me, so feel free to ask him.
Through all of this Ashlee, the one going through it, has been the most calm and mellow. She is a hoot when she gets hospitalized with an ileus, when they told us it was an ileus, she said, “Oh man! Tummy stop going to sleep! It’s not naptime!” She really puts humor into everything with her FAP and pushes me to stay positive as well. She just had to have her picc line replaced a few days ago, and thought it was so cool because she got to stay awake through the whole thing and feel them ticking the inside of her arm.
The most important thing I have learned through all of this is early testing. By the books and the genetics of it all, Ashlee shouldn’t have had to have her colon removed until her 20s, and if we had waited until she was 8 for her first scans, we would have lost her. All of those FAP are rare cases, no two are the same, however, due to Ashlee’s age, and how severe it is so early, her future is unknown, but we take each day as it comes. For now, she deals with the pain the best she can, has had 14 hospitalizations so far this year, and still struggling with an overgrowth of bacteria and a j-pouch that doesn’t empty all the way. However, she is a happy child, a loving child, and takes each day as it comes very happy and full of life.
Something Ashlee’s illness has taught me is how smart children really are. She is very aware of her illness, and the severity of it. She hates the pity looks and comments people make, and is quick to tell them she is fighting and FAP will not win because she is not a quitter. We have been blessed with such a great support group of FAP friends and FAP family. Being a FAP patient is hard, but so is being a caregiver. It is a horrible feeling to not be able to take away your child’s pain, it is a constant struggle, but we are here, Ashlee helps me as much as I help her, and she is going to fight it, and I know her FAP family will be fighting it with her.
FAP picked the wrong girl, because Ashlee is even more stubborn than I am, thank you all, and God bless.