Dermatology Appointment and Research Labs

Today we went to our follow up for dermatology clinic. Last year, we went not knowing what we were dealing with for Brooklynn. Now we have a diagnosis. I was SOOO excited because the doctor had actually heard of PTEN Hmaratoma Tumor Syndrome, and to make things even better, he actually has had patients who have had it!! That made me feel so good because most people look at me like I am speaking a foreign language when I tell them her diagnosis. SO he took a look at her, and all of her spots look the same, and none are concerning for any types of growths or anything. He explained to me some of the things to watch for, including unexplainable bumps, colorations, and moles that are growing in size. I was able to ask him questions and he actually was able to answer them. I asked the youngest person he had seen with this and he told me 10 months of age, and that baby had a growth on their shoulder that was removed. He told me to consider buying a laundry additive that would add SPF to the clothes (right now most clothes are like an SPF of 4, and with the additive it makes clothes an SPF of 30, and it lasts for 20 washes). He said that he has seen teenagers that have spots that are concerning for cancers, because of the fact that they are more lax in applying sunscreen and they want to tan. So we just need to do lots of education for her and the importance of staying free from sunburns (of course this is important for Izzy as well, but more so for Brooklynn since her cancer rate is so much higher). I asked him about AV (or arterial venous) malformation, and he stated he does see them, and a lot of times they are red, hot to the touch, and can be any where. The most common place he has found is behind the ear, but he has seen them on the face and other places.

The nice thing is we don't have to see him every year. That with monthly exams by us her parents, and yearly at least by the pediatrician, and only making referrals if things pop up, that we don't need to be seen regularly. SO that means we have been cleared (at this time) by ONE MORE SPECIALIST!!! How exciting. He did say with this diagnosis it is like a ticking time bomb, because you never know, if ever, you will get a spot or something that will be of concern. He says it is usually a matter of time that SOMETHING pops up, but most of the time it is benign.

After our dermatology appointment, we went to get Brooklynn's labs drawn for her research study. I am not sure if I have written about the study, but we are enrolling her in a study through Cleveland CLinic (the gurus of PTEN), which will examine her blood and other people's and see if there are any links they can find to certain symptoms. She will be in a research article, which is a little scary, but it will be good in the end. If they find out anything they will give us the information, and if nothing else it will help further the information available about PTEN, that maybe some day more families will have better information that we have.