Picture From: http://wallpapercave.com/free-st-patricks-day-desktop-wallpaper
Picture From: http://wallpapercave.com/free-st-patricks-day-desktop-wallpaper
I still can’t believe that my trip to Cleveland Clinic happened. I wanted, to be honest with you all. I was – VERY NERVOUS. Tonight while I watched (People’s Icons Hero and Survivor) episode, I was inspired to finally write this blog post about my experience and visit to Cleveland Clinic. Main reason on why my mom and I wanted to travel to Ohio is because they have some of the topic doctors/researchers in Cowden Syndrome. The first doctor we saw was a breast specialist because I was diagnosed with DCIS (Breast Cancer) back in October/November but even though the doctors here in Chicago talked with me about my options. I still wasn’t sure what to do and felt very lost when it comes to my rare medical condition (Cowden Syndrome). They were all very knowledgeable about breast cancer but seeing Dr. Pederson at Cleveland Clinic was amazing because it was just what I needed. Dr. Pederson has so much knowledge, understanding and past experience with other patients with Cowden Syndrome. Some of the new information we received from Dr. Pederson in regarding of Cowden Syndrome and Breast Cancer was that the patients that they saw that received a lumpectomy and then radiation. They ended up having a very bad reaction to the radiation because people with a PTEN gene mutation have sensitive skin. When a woman is on tamoxifen, you run a risk of developing uterine cancer and this is one of the cancers that people with Cowden Syndrome already have a high risk of developing.
Finishing up this post the next morning, even though there is snow the sun is shining and that makes me happy. I don’t no about you guys but when the sun is out I’m more motivated and happy to get things done. Here that new information from Dr. Pederson was great to hear because the other doctors we saw never told us anything. Honestly, I don’t remember if the other doctors told us anything about the risk of developing uterine cancer while on tamoxifen or inform us about skin reaction to radiation. They possible could of said something but they were only coming from their breast cancer knowledge and they knowledge and education on Cowden Symdrom is very small. That’s why we wanted to talk with a breast specialist that deals with patients with Cowden Syndrome. They know other things/information that other doctors have no clue about because Cowden Syndrome is rare.
Our day at Cleveland Clinic ended with Dr. Eng and her genetic coordinator Kaitlin. Dr. Eng is the lead researcher in Cowden Syndrome and they have only just started learning about this rare condition and how it affects people in different areas of life, the risk of cancer and other medical condition. For example, one of the studies that they just started was looking into the GI track of people with a Cowden Syndrome because through the years they have seen some patients with food allergies or serious GI track issues. They are also looking into why not all people with Cowden Syndrome ( a person like me) that don’t have any food allergies or GI track problems. While meeting with Dr. Eng we were able to ask her any question we may have relating to Cowden Syndrome and the PTEN gene. One of the questions I personally wanted to ask was (Is there any connection to epilepsy and the PTEN gene/Cowden Syndrome?). Kaitlin/Dr. Eng both said no and Kaitlin did inform us that there are other patients with Cowden Syndrome with Epilepsy but there is no connection with Cowden Syndrome. Part of me was very disappointed to hear that news because I was very interested to see if it was or not. Then Dr. Eng looked at my skin, checked my balance and the vein malformation that I have on my left upper thigh area. While she asked me about my balance, my response was to say it was “good”. My mom and another response to that but I then explain my answer to be good because there are no dramatic changes in my balance. For example, there is no vertigo and I’m still able to walk, run, dance and do all of my favorite active activities. I have always known that I’ve had unsteady balance but through the main years of Irish dancing, I was able to compensate the balance issues. I wanted to talk about one more thing in this blog post and that’s being your own advocate when it comes to your own medical treatment. When we were talking with Dr. Eng we asked her about diets or any foods to stay away from but her response was “everything in moderation”. I was very happy to hear about that because after I have diagnosed with breast cancer my mom and I had a few friends telling us to completely eliminate sugar from my diet. I wanted to talk about being your own advocate in your health care because while we were talking with Dr. Eng she said something that I completely disagreed with. My mom and I informed her that I have been Irish dancing my entire life and Dr. Eng said that high intensive movements, holding poses and even the type of shoes can put a lot of pressure on the veins and make the malformation even worse. She even asked what type of shoes I would wear and explains the two types and she was concerned about the hard shoes because people with Cowden Syndrome apparently can get bumps on the bottom of their feet. Before I go on, I do want to say that Dr. Eng was not telling me to completely stop physical activity. Earlier in our talk with Dr. Eng she did say, “that a patient needs to know their own body and what they can/can not handle”. I true do believe that Irish dancing, walking, yoga and ballet has made my health even stronger because I’ve gotten the body moving and blood pumping through my veins. I love physical acitivity and I will not let Cowden syndrome can take that away from me.
(Weight has been lifting off my shoulders) and that’s how I truly felt while walking out of the Cleveland Clinic buildings. That’s because before I did not know what direction I wanted to take when it came to dealing with the DCIS breast cancer found in both of my breast. Once we had all the information everything seemed much clearer to me and I’m going with the pro-acievite action with having a nipple sparing mastectomy with reconstruction. One more thing I forgot to say, Dr.Eng told us that about 30% of people with Cowden Syndrome starts with them and not passed down from their parents. That’s was interesting to hear because more than likely that’s me because my mom got tested and she came back negative and my dad still has not gotten tested.
Today is the day that my mom and I travel to Cleveland Clinic to see some of the top leading specialists in the PTEN gene mutation. Ar first we were planning to see three different doctors but now it’s only down to two. I’m excited, nervous and scared but I know it’s something that we have to do for my health. My mom and I are also very interested in knowing more about the PTEN gene/Cowden syndrome so that’s why we are seeing Dr. Charis Eng, MD, PhD. She is the top dr. of the Genomic Medicine Institute at Cleveland Clinic and her only specializes in PTEN gene and was the first one to further research. Throughout my trip, I will make sure to keep you all updated on how things go. We are also going to say in Clevland for the weekend. Explore, go to a museum or do whatever seems interesting to us. We both have never been to Cleveland before so it will be very new to both of us.
I’m definitely no stranger to the medical world. I was finally diagnosed with a rare medical condition known as Cowden syndrome. Once we had that rare diagnoses then everything was finally connecting. My large head and early on-set thyroid problems and then when I was 21 years old we found out that I had a rare brain tumor known as Lhermitte–Duclos disease(dysplastic gangliocytoma of the cerebellum).
Today is national rare diseases day and I wanted to write a blog post to advocate for cowden sydrome and lhermitte-duclos disease. Both of these conditions have affected every moment of my life and my family. Especially these past two years after having brain surgery to remove the tumor from my cerebellum. These rare medical conditions are so rare that many doctors have never heard of the conditions. When the brain tumor was first discovered the doctor that diagnosed me said, “three years I’ve been at this hospital you’re the second person I’ve seen” “most doctors will never come across this brain tumor during their time of practice”. While researching rare medical condition, these reactions from doctors are quite common when it comes to dealing with patients with a rare medical condition. Living with these two rare medical condition is hard, stressful and sometimes painful but it’s also given me great pride for life. That’s because I’m living life with two rare medical conditions and I thinking that’s amazing. If you would like to know more about these two rare medical condition please check out the following links.
Living with these two rare medical condition is hard, stressful and painful but it’s also given me great pride for life. I’m honored to live
Lhermitte-Duclos disease, also known as dysplastic cerebellar gangliocytoma, is a rare tumor of the cerebellum. It is probably hamartomatous, although the exact pathogenesis remains unknown 2. It is considered a WHO grade I tumor 1-2.
Cowden syndrome (CS) is part of the PTEN hamartoma tumor syndrome. Hamartomas are benign, meaning noncancerous, tumor-like growths. Other clinical syndromes that are part of the PTEN hamartoma tumor syndrome are Bannayan-Riley-Ruvalcaba syndrome (BRR; diagnosed in children), Proteus syndrome, and Proteus-like syndrome. CS is characterized by a high risk of both benign and cancerous tumors of the breast, thyroid, endometrium (uterus), colorectal, kidney, and skin (melanoma).