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Meet Jameson

Our story begins with a baby boy born on June 28th 2003. He was 8lbs 2oz and arrived by C-section due to failure to progress.  Jameson was a big boy and came into this world with a subarachnoid hemorrhage, GERD, apnea, and a VSD murmur. It was explained to me that the hemorrhage was a brain bleed that had nothing to do with the brain, but the blood vessels between the scalp and skull that burst and that they would heal and be fine. We are still waiting on normal. Jameson was referred to the Babies Can’t Wait Program, I had no idea what this was and why we needed it, because I was told once the bruising went away he would be normal. Jameson literally slept for the first four months of his life, the only thing we had to do was feed him and change his diaper.

Jameson came home with an apnea monitor though it only alarmed us once in two months. At Jameson’s two-month check up, the pediatrician asked if he was tracking with his eyes or reaching for toys. I told her the only thing he did was sleep.  I was given the information for Babies Can’t Wait program, I asked what the program entailed and was finally told that the brain bleed could leave him with CP, with that we started paperwork for much needed therapy. When Jameson was about 4 months old he woke up a bit and was a happy baby.  He only cried when something was put on his head and to this day he still hates hats. We remained in the Babies Can’t Wait Program until age 3.  During this time, Jameson was diagnosed with asthma. By 12 months he was babbling, however he had few words. I asked the pediatrician if she thought he might have autism, she replied,  “let’s wait and see.”

After talking with our Babies Can’t Wait service coordinator, I knew we had to find services for Jameson because Babies Can’t Wait stops providing services at age 3.  We ended up at the Marcus Center in Atlanta, the developmental pediatrician there gave us the autism diagnosis along with PDD-NOS. She felt there was more so she sent us to genetic testing at Emory University, there we got the PTEN Hamartoma Tumor Syndrome diagnosis. Our son has Cowden Syndrome, BRRS, and Proteus Syndrome.  Cowden Syndrome involves multiple organ systems therefor we have an array of specialists we see yearly. We are always looking for information and studying to make sure we have everything covered and are open to suggestions and advice.

Thank you for sharing our story.

Tina

Jameson’s Mom

Meet Tami

I have PTEN. This year I became a four-time cancer survivor. As part of my PTEN experience, I was born with an AVM. AN AVM is a bunch of arteries and veins tangled together., and my AVM is on my left hip. Over the years I have experienced pain and many surgeries, and unfortunately, the AVM could never be corrected. Over the years the AVM has grown big enough to affect my heart. I have a good cardiologist who treats my right-side heart failure. The AVM has caused pulmonary hypertension which is hypertension of the lungs.

In the 70’s when my thyroid problems started. My physicians removed my thyroid with four surgeries. Next week, like many of us, do on a regular basis, I see a thyroid surgeon about my current issues.

I am more than PTEN, cancer, and lots of doctors. Ask me anything about low salt cooking, and I am a pretty awesome artist too.

I am Tami. My 40th high school class reunion is next month and I still here.

Meet Cheyenne

Cheyenne experienced benign tumors starting at age 7. They would develop in her knee and leg, grow, and she would have them removed. At age 14 the lumps showed up in her breast, and every six months she underwent a procedure to remove them. After the seventh procedure, her doctor realized something was wrong. Cheyenne tried hormones, birth control, a no caffeine diet, and nothing seemed to work. Cheyenne was fortunate that she had a genetic specialist that was familiar with PTEN mutations and her specialist conferred with her colleagues about Cheyenne’s symptoms. The team agreed that Cheyenne might have a PTEN mutation. Her physician performed a physical examination and blood test, and she came back positive for a PTEN mutation. Cheyenne bravely made an appointment with her breast specialist, and he explained to Cheyenne that if she kept removing lumps from her breast, there would be little left. He also taught her that she was at a high risk for breast cancer, 85% lifetime, and while screening for breast cancer is an option, preventative mastectomies would significantly reduce her risk. She gave this careful consideration praying long and hard about the decision. Cheyenne felt that most people find out their risk too late, and don’t have the option to screen or take preventative measures. After an in-depth discussion with her parents, she decided that preventative surgery was the best option for her. Exactly one week after Cheyenne graduated high school, she underwent the first part of her double mastectomy. Five months later she completed her surgery and reconstruction. She is 22 years old today and goes in for yearly dermatologic checkups often having skin lesions removed.

Despite this adversity, Cheyenne thrives and loves life. She has two precious baby girls. Unfortunately, her daughters have a PTEN mutation. While this is concerning for their family, they feel they have the knowledge they need to provide their daughters the best care.

Meet Lauren

After being diagnosed and treated for thyroid cancer at 13, I gained a diagnosis with Cowden Syndrome at 14. Suddenly, everything made sense. The small bumps on my hands and feet that didn’t respond to wart treatment, my macrocephaly, the lipomas and fibroids that seemed to be growing everywhere, it all tied together. I also have problems with ADD and dyscalculia, and developmental delay as a toddler. Now, at 15 years old, I’m experiencing neurological symptoms that are Cowden’s related. Emotionally, this diagnosis has been hard, but I’m still fighting

Meet Margaret

I was diagnosed with a PTEN mutation in 2002. To say it has been a struggle is an understatement. I carried a notebook to every appointment full of information because I was often titled a drama queen or an attention seeker. I fired one doctor because he said the reason I was in so much pain because I was depressed, I had kidney cancer.  Another told me to “stay off the damn computer” while yet another argued with me stating a thyroidectomy wasn’t necessary. I simply said, “I’m going to call genetics, and they will tell you the same thing I’m telling you, shall we cut out that step or not?”

The diagnoses due to my PTEN mutation have been numerous, some missed, some ignored, but all life-changing. I had a massive AVM in my left thigh and almost lost my leg at the hip flexor. A supposed stroke in 2012 turned out to be a benign brain tumor, a missed plural effusion after a heart procedure turned into pneumonia, I have stomach issues because of the carpet of harmatomas in the lining of my stomach. Thankfully, I had jobs which came with quality amounts of sick time because my journey has included many hospitalizations and surgeries

My asthma as a child was severe and followed me into adulthood, and it was so severe that I thought I would surely die from it. It was never managed, primarily because the parents weren’t compliant, and today, it is responsible for my diminished lung capacity and shortness of breath. I am not on oxygen yet but PFTs are 39, and I am looking at oxygen in the very near future. I often wonder if my parents did a better job of recognizing the disease, would my lungs be in better condition today?

Today, research has advanced, and great strides have been made in all areas. Because of my advocacy, my doctors are more willing to listen. I have learned through research the need for dietary changes to aid in cutting back inflammation, and that a whole food, plant-based diet results in fewer colon polyps in my case another problem resulting from my pten mutation. An example given by a gastro doc at a recent symposium stated that the number of polyps dramatically decreased 75% due to the patient’s dietary changes. I found that following a low carb, whole food diet has reduced my overall pain.

This disease doesn’t just affect your physical health, but your emotional well-being as well. I grow weary having multiple appointments in a day and often have to travel over 2 hours one way for the best care. I live daily with the fear that I will miss a symptom or a lump or a new mole as I have survived melanoma twice, or my doctor won’t believe me, and I will once again wind up in surgery. The struggle is constant to stay positive because, at any moment, another life-altering diagnosis comes into play. Fortunately, I am now followed annually by an oncologist specializing in hereditary cancers making my role as a patient advocate so much easier. I also run an online support group where my focus is emotional well-being. It is very isolating to have such a disease without like-minded people that can walk the very same path. We share ideas, ask questions and give emotional support. I have been walking this path for 16 years, and while it has been a struggle, I’m finding life more comfortable with the great strides being accomplished with research. I was able to attend the US PTEN Hamartoma Tumor Syndrome Foundation PTEN Patient Symposium several months ago where researchers from all over came together to discuss where they are with current research. I take comfort in sharing my experiences with others in hopes that my struggles, don’t have to be theirs.

Welcome to the PTEN Foundation

Letter from our President

I was diagnosed with a PTEN mutation in 2011 after surviving thyroid cancer.  Like many of you, a lucky diagnostic journey led to my diagnosis. While there were a few existing Facebook support communities, I realized there was no formal organization to support our patient community. Thus, my decision to form the PTEN Hamartoma Tumor Syndrome Foundation.  We aim to support you and researchers working to find a treatment for PTEN Syndromes. We do this by ensuring our community knows the available research, raising PHTS awareness, and developing programming to provide long-term patient benefits.

We believe the number one need for our community is to gain a proper diagnosis that puts every patient on the path to treatment. Our priority is that your voice is heard through advocacy, your needs are met, and you have access to the best care.

We have had great success in a short time, including the following:

  1. We offered more than $15,000 for patient scholarships to our community to help cover medical and travel expenses.
  2. We published the first-of-its-kind patient-friendly brochure and screening guideline leaflet for our patients to take into physician visits.
  3. We hosted the first-ever International PTEN Patient Symposium with more than 70 patients and researchers present.
  4. We published the PTEN Center of Excellence Criteria with input from our Scientific Advisory Board.
  5. In collaboration with PTEN Italia, we recently launched the first-of-its-kind international patient advisory council to connect patients who will work together to advance beneficial programming.
  6. We launched the only International PTEN patient-powered registry.
  7. In collaboration with PTEN Italia, we will participate in Europe’s first International Symposium.
  8. We developed and submitted our protocol for the first patient-owned pten biorepository.

It is an honor to serve you.  Please feel free to reach out by email anytime. The PTEN Hamartoma Tumor Syndrome Foundation is your foundation, and we want to hear from you.

American Cancer Society Interviews PTEN Foundation President Kristin Anthony

Kristin Anthony Article Bumper

The PTEN Foundation is proud to share a recent article produced by the American Cancer Society featuring our President and Founder, Kristin Anthony.  We would like to thank ACS Senior News Editor, Stacy Simon for her assistance in sharing Kristin’s story.

Please check out the news article here.

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