The story of Ashley
My Bus Ride with My Hero.
Our Life with PTEN
Do we ever get off that bus?
(I recently read a blog from another young lady who is also navigating her way through the world of Cowden’s Syndrome. Her words have been stuck in my head ever since……that bus.)
My first bus ride with Ashley started with a complicated pregnancy. Her heart rate dropped turning the delivery into an emergency c section with children’s hospital on standby. The cord was wrapped around her neck, she was not breathing, I could feel the panicked vibe in the delivery room. I kept saying, “what’s wrong”, this was a very scary bus ride. Finally a cry, thank you God. We went home a few days later. We got off the bus and settled in, so excited and yet so nervous being a new mom. The next few months were smooth sailing. Months after Ashley’s 1st birthday, we noticed she was not reaching typical milestones. We went back on the bus. This bus was full of colorful puzzle pieces yet so dark, full of concern, full of sadness and worry. It was called autism. I have heard about it but I didn’t know one thing about it. I went through an entire grieve cycle. The child I had given birth to was gone. The typical dreams we have for our children suddenly changed. Racing thoughts consumed my head, “I guess she wasn’t going to take over Servpro, she wasn’t going to take care of me when I’m older, was she going to drive, go to college, will she ever be on her own, will she date, have children, was she ever going to say, “I love you mom!?!” My head was full of questions and heartbreak. I frantically searched google looking up how I to fix her. It was a mystery. After months of crying and searching, I just accepted it, embraced it, and started with an early education program. When it can time for kindergarten, I was told her level of autism didn’t warrant an all inclusive school for autism and unfortunately most school districts didn’t have a great program for special needs for her level. She was in the middle. There were waiting lists to get her into some district programs. Where do I go from here? I hopped on the moving bus. We moved to a district that had a great program. It was a quick frantic move. It wasn’t about what the house had, it was all about her. It couldn’t been a shack and it was good enough for me. Grade school was fantastic. Ashley was the sweetest girl, full of love and affection. It was 1st grade when I finally heard “I love you mom”! What a blessing to hear those words. Just when you feel settled, all the teachers understand Ashley, you get so comfortable with the routine, you get to know your neighbors, time flies and it’s time for middle school and their program is not that great …..ugh, here we go again. For Sale! Back on the moving bus. Once again it was all for her. In between the move she was placed out of district to Maple West as a repeat 5th grader. What an amazing year! I would say in all her life, this rates up to one of the best. She was published in a book that sells on amazon. It’s called, Lessons From The Garden. (Description
Lessons from the Garden shares the joy and gardening discoveries by some wonderful, hard-working kids, as they took on an ambitious class project. But it is so much more. This book should be a model for school gardening programs wherever parents, teachers or principals make the wise choice to introduce nature’s miracles to our youth. Mrs. Hull’s clear writing and charming photographs teach how to make a great garden and –even more important– reveal some powerfully positive life lessons that will last with the young gardeners long after the zucchini is gone.) She adored her teacher, her teacher adored her, but 5th grade can’t last forever and we are off to another school. She loved Heim middle but a lot of issues started. Out of no where she was constantly battling constipation, the pain and lack of communication caused her to act out. I was on a new bus, it was cold, exhausting, sad, endless nights of her staying awake all night long, curled up or folded over to adjust to the pain, sleepless nights and urine accidents in bed. I wanted off this bus so badly. In and out of the doctor we went, we did MiraLAX clean outs every 2-4 weeks, she was prescribed to MiraLAX daily. I would read that MiraLAX was not meant to take daily, this concerned me yet her doctor wanted her on it. She had several X-rays and in patient stays at children’s hospital for ng tube clean outs. We would stay overnight she would sleep and poop and I stayed awake cleaning the bed linen and her. It was horrible watching her in so much pain. She lost a lot of weight, began having urine accidents at school, starting punching her legs as she sat on the toilet. I repeatedly called the doctor and was told it is “autism, puberty changes with autism, keep giving the MiraLAX”. This continued for months, she missed 72 days of school that year and was sent home quiet frequently due to behavior. I was defeated, where did my sweet loving Ashley go? I became withdrawn, sad, lost, started reading about autism puberty. Could it really be this bad???? After endless nights of no sleep I called the doctor crying and told them, “I know my daughter and I don’t think this is puberty!”, they replied and said, “it’s very common for these children to act out and change. Maybe you need to join a support group or seek counseling to adapt”. I demanded to see a gastroenterologist and got the referral. We had our first appointment, went over food options, push water and keep up with the MiraLAX. Still no improvement. We took a vacation to Hawaii in October 2015 and Ashley was not herself. We would panic about her having an accident in a restaurant or on a tour, it was constantly in and out of bathrooms. It was stressful. The last day we sat in the lobby waiting for our taxi to take us to the airport. Ashley became violently ill, it was coming out both ends as she laid on the lobby couch. The taxi was to get us in 10 minutes, are you kidding! We were able to get back in our room, got her cleaned up and went to the airport where the vomiting continued there and continued on the red eye home. When Ashley pukes, she does not run to the toilet or ask for a bucket, it just comes, spewing out like the exorcist. My heart broke as a stayed up all night on that airplane cleaning up vomit and focused on making her comfortable. The vomit was on me, on her, in my hair, on the seat, and on the floor. I as completely exhausted, over 24 hours straight of being awake, watching everyone else sleep. I just stayed up, had Ashley’s head on my shoulder and prepared for more puke. We got home and she continued being sick. We had our second gastrointestinal doctor’s appointment and I told them about the vacation. They asked if Ashley ever had bloodwork since this all started a over a year ago. I told them no. They order it, we went, it took 5 nurses to hold Ashley down to draw blood. Her primary called me and said, “I think there is an error on her endocrine labs, I sent another order for a repeat, wait 2 weeks”. Again a battle to draw blood, it was like a wrestling match and just heartbreaking to watch my girl go through this. I kept thinking, how long can I do this without breaking down myself? A day later her doctor called and said, “Ashley’s thyroid is way off, she is in a hyperthyroidism state and I want you to go to children’s endocrine immediately, get an ultrasound and we will take it from there”. The ultrasound showed 5 nodules with one being the size of a walnut. Surgery was scheduled for December 23rd.Ashley was 14 years old. The surgeon told me to relax and said, “I doubt this is cancer, it’s very rare to have thyroid cancer in the pediatric population”. Ashley did great with the surgery, they removed the right side of her thyroid and we were released on Christmas Eve. We canceled our family Christmas get togethers so Ashley could heal and we could sleep and try to relax. On January 6th, I was at work and got the call from her endocrine. It was cancer. Follicular Carcinoma. I lost it. I cried all alone for awhile before I could call anyone else. WTF bus is this?!!! I do not want her or I on to be on the cancer bus! She is to young to have this! I recently got dx with skin cancer and wasn’t autism enough for her! We had our follow up appointment with multiple doctors present. They recommend Ashley to have a radioactive iodine treatment to kill any remaining cancer cells. After the consult they did not think Ashley would swallow a large pill and wouldn’t isolate her self following the precautions after receiving radiative material. So that never happened. They were so sure they got it all and I would have no worries. In April of 2016, another nodule was growing on the left side, back in to remove the entire thyroid. That meant she would be on a pill for the rest of her life. A thyroid pill called Levothyroxine keeps her alive and without her parathyroids (lost/damaged in surgery) she is on a calcium supplement and Vit D for life.
Onward to a new bus ride to attend the thyroid convention in California. I wanted more answers, it did not sit well with me that there were only 2000 reported cases of pediatric follicular thyroid cancer. I met a wonderful doctor from MD Anderson, he took the time to read Ashley’s pathology report. He said, “large head, autism and a rare pediatric cancer, get her tested for Cowden’s Syndrome. My heart sank after googling it! I was devastated. There was no history of thyroid disease in my family.
All aboard…. let us get on the bus to Cleveland Clinic. It was confirmed she had Cowden’s Syndrome. Cowden syndrome is caused by a germline mutation in the PTEN tumor suppressor gene and is characterized by hamartomata’s growths as well as an increased risk for breast, thyroid, endometrial, renal, and gastrointestinal cancer. She is a de novo a spontaneous gene mutation. The mutation is typically inherited in an autosomal dominant fashion, but in up to 44% of the cases, it occurs de novo with no prior family history. We are never getting off this bus. Ashley will have a lifetime of cancer screenings. Her chance of having breast cancer is 85-90%. I will have to decide for her to have a double mastectomy, hysterectomy, and other challenging decisions. Anxiety fills me when I think about. Everything that has happened to Ashley is because of the gene mutation. Her autism is different from others with autism. We really have a lot of support from our family, friends and we are incredibly blessed to have the PTEN foundation fighting for a cure. I have met so many wonderful people, met other heroes, heard positive stories, and they can truly understand us.
I will never look at life the same. We live for the day. Every morning is a new start and new day to live it to the fullest with a positive attitude. We have been through so much and we take those challenges head on and she remains so strong. She is my hero. We may never get off the Cowden’s bus, but we plan on fighting the entire ride.
Life- It is what it is- BUT it will become what you make it, you just must focus, stay positive and live everyday like it is your last.