Hunting for facts…

It never fails, each and every time I think I have this whole nevus World figured out; another piece of research comes out, a tidbit shared from Physician to patient or some publication from a Scientist pops up that was never even considered – changing everything. Or does anything change at all??? That’s where this world becomes tricky, the information varies and sifting through facts vs theories is often a task. To boot, medicine is forever evolving and new discoveries are happening all the time, when and how those discoveries are shared is not uniform. Depending where you are in the World can change how much or how little you know.

Either way, I think everyone can agree that we all want research to continue, a lot of us want to be a part of it, having that chance to help move advancements along gives us a sense of purpose and we all want a new little morsel that gives us hope for treatment. I wish that what I was going to say next was…  GUESS WHAT?!??! I have ALL of those things for you today! But I don’t. I DO however have a few updates to some recent conversations. So let’s get to it!

I continue to hear people state that they attempted to join a study we were referred to by the Amazing Lauren (founder of the best support group ever) without resolve and I was perplexed. On your behalf, I reached out to resolve this. I realize some people are new here so I am going to take a few steps back and explain WHAT this study is first.

 Dr. Keith Choate at Yale University School of Medicine/Yale-New Haven Hospital is running several research studies for people with skin disorders. One of them is specific to ILVEN. The goal is to find out how inheritance of specific genes causes some people in families to develop skin diseases. This is done by analyzing DNA molecules. Some studies may take years to complete and they may never find the true cause of the mutation, but if they do, they may be able to develop better tests and treatments in the future.

To participate you will be required to release your last biopsy. You will need to sign a release at the medical facility holding that biopsy allowing them to send it to Yale to be examined. It includes a background on the Nevus owner. Parental consent, family skin conditions, symptoms, origin, PCP & Dermatologist information, Grandparents information and other medical history of the family. This is fairly lengthy. Next & lastly it requires a biological sample. Saliva can provide much of the same genetic information as a blood sample so depending on your location and whether you have recently had specific blood draws, they may ask for just one, or possibly both to obtain the patient’s DNA.

The DNA will then be screened for mutations and stored indefinitely for future use.

Sounds pretty cool right? Well it IS cool! What’s even more impressive is that we went into this study with the sole intentions of giving our information and truly never hearing anything again, but to my surprise, in the 2 years since we participated we have had multiple phone and e-mail conversations with Dr. Keith Choate himself. He is so kind and informative, just recently he let me know that they were just working on Mermaids sample and may potentially be able to use us in a separate study as well. Being that Dr. Choate has always been so receptive to us I took a shot and sent him an email asking if the study was still accepting new participants. My understanding is that many of you have inquired without response. Keeping with his reputation Dr. Choate personally picked up the phone and called me.  We had a quick chat about Mermaid, the study and another small tidbit I will share in just a moment. The long answer is YES, the study is still ongoing, in fact, he needs people more than ever! There were a few factors in the lack of response, one was due to some staffing issues creating an abundance of work for people not necessarily equipped to handle to volume of requests and bigger than that was the funding. Research needs money, when it’s lacking, research stops from growing. GREAT NEWS… the NIH just funded this project big time. That means it’s time to get involved! Opposed to using the old contact information Dr. Choate asked me to tell everyone to email him directly and he will get you started.

So here is a simpler view of the study and how to get involved. 

ILVEN study: 

Who? Dr. Keith Choate at Yale University School of Medicine/Yale-New Haven Hospital

What? Research how the inheritance of specific genes causes some people in families to develop skin diseases by analyzing DNA molecules in hopes to develop better tests for diagnosing and potential treatment.

How? Email:

Why? Because you can! 

Keep in mind, you may never hear anything at all. You are agreeing that Yale may use your samples solely for research and that is all. If it is medically necessary, they will contact you. Please limit the email’s to inquiring about the study, he has been so open and kind that we do not want to burn this bridge as a contact, trust me – if there is a need, he will get in touch. Yale covers the cost of shipping all materials back. If you want to see pictures of what the paperwork or specimen tube looks like you can click my link below from when we submitted our package. Now get to it! The more the merrier and we NEED your DNA!

Here is the other small tidbit. While on the phone with Dr. Choate I wanted to inquire if he had any information on a potential break through in the past few weeks in the UK. It’s a long shot but when the opportunity presents, I try. It was mentioned on a forum that a Physician in the UK had just made some break throughs in the past two weeks. That this specific Physician was able to isolate 2 specific genes that may be responding to treatment. This was all still in the research phase but gave a lot of hope to our small little Nevus world. 

Dr. Choate first stated that this specific Physician is a brilliant scientist and absolutely has the capabilities to do this, but did he know anything specific to what I was speaking? No. However, he did inform me that he recently gave a talk that included information on the mutation that causes CHILD syndrome and it’s possible, it is related to this. CHILD syndrome (an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects)  is an inherited disorder, affecting primarily women, that is characterized by ichthyosis-like skin abnormalities and limb defects on one side of the body. The skin is usually dry, itchy, red and scaly and it comes with a list of potential side effects. Sound familiar? A little like ILVEN? That’s because the two can be misdiagnosed as the other. They both have swirled linear patterning, however, in CHILD syndrome the mutant gene is in every cell, but that gene is active in only parts of the body. The gene in CHILD syndrome is NSDHL, which is related to ones cholesterol. Their research has found that those with CHILD syndrome may benefit in a treatment combination of topical and oral cholesterol medications. It’s interesting for sure, we all know how easy it is to be misdiagnosed but the important note here is that ILVEN is NOT CHILD syndrome. 

I appreciated the information either way and found it fascinating that the two were so similar, it was also a good reminder that Dr. Choate works with all kinds of genetic disorders, not just ILVEN; but I still wanted to try to get an answer to these 2 mystery genes that had been mentioned. I’m sure you can guess what I did, I reached out to the UK of course! I really expected a dead-end but to my surprise, I got a written response from the Physician named in this work. The response will explain why I am protecting this individuals identity. As I touched on above, research costs money. No money, no trials, no publication. If an individual seeking funding from larger or national organizations spills the beans about their findings to the public, the funding could be cut, or in some cases, not backed to begin with. In this particular case I was informed that currently, they are lacking funding. 

Without funding the response I received was guarded, they informed me about the lack of funding and alluded to a potential compromise if information shared in private with participants or those inquiring were to be made public. I was told point-blank that there have been no recent breakthroughs in the past few weeks. That over a few years there have been SOME but nothing ready to share or be published. The Physician was kind and in fact, offered to share the publication with me when funding allows that to happen potentially in 2018. I did respond asking if I could quote a few things mentioned or share their name but that was not spoken too. So out of respect for the Physician I will not share their name or personal information.

My take away is this – Yes, there is research happening in the UK with a brilliant scientist. With more information and funding there may be specifics to share next year about findings that occurred over the past few years. In the past few weeks there has been no new movement. As much as I would like to tell you that I confirmed 2 specific gene types associated with ILVEN are currently responding to experimental treatment, I just can’t. I will continue to dig, keep my ears open and as always – share anything I come across. 

I pride myself in presenting the most accurate facts and I hope you have all placed your trust in me, I assure you I spoke directly to two very large figures in the US and UK performing this work. If you have something to add or know another source I can follow-up with, by all means, send it my way and I will dive right in. I apologize for the delay in response with some of this information but I wanted to make sure it was as accurate as possible. 

So tonight, I leave you with this… reach out to Dr. Choate and inquire about participating in the study, tell him we sent you! Know you are doing your part to further education and research and who knows? Maybe this time year I will be sharing some exciting new treatment from the UK! 

As always… Thanks for walking with us! 

Mermaid’s Mommy



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