Tag Archive | help

…And… We are back!

Well hello there! Welcome to 2017! We last left you a note that we were taking the holiday season off and that’s just what we did; but it’s time to dive back into things. As I’m sure you all know, the holiday season can be all encompassing. We wanted some time to focus on another project and be present in all the winter festivities. Some things went as planned and we promise to share about that later but honestly, life had a different plan for us these past few months and we went through some personal struggles regarding loss. That too, we will share down the road but I’m not quite ready to go there.

For now, let’s catch up on where we are at in the Nevus world. We gained some new followers during our break and fresh faces are always looking so I will give a quick reminder of why we are here.

My daughter was born with Epidermolytic Hyperkeratosis, specifically Aconthotic and hyperkeratotic epidermis with focal dyskeratosis including linear epidermolytic epidermal nevus and epidermolytic acanthoma, a hemangioma and a stork bite, also a form of nevus, on her neck. The hemangioma never grew, it’s the same size now as it was at birth but her stork bite, also a form of nevus, has continued to grow and her LEN has opted not to slow down. In comparison to others we feel blessed, her LEN remains light in color and relatively flat but continuously changing.

What does all of that even mean?

Broken down, it essentially means she has EHK and LEN.

Linear Epidermal Nevus (LEN) is a rare genetic skin disease effecting about 1 in 100,000 people that typically effects the limbs and torso. Her particular kind sticks to one side of the body, in our case, her left side. In infancy it is light tan and flat but will thicken, darken and often become warty as one ages. There is a possibility of skeletal, bone, ocular and neuro abnormalities that may develop; in which case it would be consider a “syndrome”; the lesions alone do not indicate a syndrome. There is a chance that the lesions may develop tumors, some benign, some cancerous. Open lesions are susceptible to infection, causing further health risks. About one in five people will experience a malignant cancer in their lesions.

There are many other forms of Nevus including Congenital, Sebaceous, giant, and closest in kind, ILVEN. It is caused by a genetic mutation in the ectoderm during gestation. At this time there is no “cure” – though there are potential medicines and procedures to help with discomfort and visualization. Occasionally, surgery will be warranted if the size or site indicate so. Excision is the only true “cure” for LEN or ILVEN. The rest is all maintenance so it all depends on how severe your specific case is.

The subtype of Epidermolytic Hyperkeratosis (EHK) is even rarer than LEN. It effects about 1 in 250,000 people and makes Mermaid’s skin fragile. There are two types of EHK, my daughter’s is the NPS type. We will explore that more this coming year. The dyskeratosis and aconthosis is a fancy way of saying there is an abnormalization of the skin keratin causing thickening.

So where are we today?

Currently, we are on our 3rd dermatologist and live day to day with what the future may hold. We have been blessed that thus far she has not developed any of the potential abnormalities and most likely wont, with one exception. Her vision, her eyes were checked about 1.5 years ago and they questioned her vision a little bit. As a result our new dermatologist recommended we follow up. We will be seeing the same pediatric opthomologist, which we LOVED,  for our second time in a few short weeks. The obvious things they are looking for are cataracts and colobomas, some people refer to an abnormality as a “key-hole.”

Additionally, Mermaid’s disease is growing on her hand, over the joints. Nothing has been set in stone but all 3 dermatologists have mentioned the potential of needing excision surgery near school age. We are a ways off from that so I can’t speak to that more than saying it is a possibility.

One of the first things we were told was to be aware of was the potential of developing “Wilm’s tumor” – childhood kidney disease. This has been controversial from source to source but nonetheless, is there. She will officially be in the clear at age 6.

Over the past few months Mermaid has developed a new spot on her back and the base of her skull that are itchy, raised and extremely bothersome. We are waiting them out to see if they progress but will probably go in to have them checked soon.

Where we are today is night and day to where we began. In the beginning I was scared, plagued with anxiety, confused and uneducated. I now have a good grasp on what we are dealing with and the anxiety has mostly subsided. I say “mostly” because there is always that lingering fear of cancer, be it in the form of melanoma or kidney cancer, that, I will never shake, though it is far from the forefront of my mind, more of a foot note.

We have grown so much as a result of my relentless research and support from everyone here at Mommy’s Mermaid.

To our new followers, we welcome you, and thank you for joining us, to those just browsing, thanks for stopping by, and for our long time friends and followers, we appreciate and love you all.

We look forward to spending the next year sharing our journey, hearing your stories and hopefully making progress and new discoveries in the nevus world.

Cheers to 2017!

Thanks for walking with us today!

Mermaid’s Mommy

Back to ground zero…

Well, sadly… we are losing our Primary Physician. Those of you that have been with us from the get go know that he has been the one constant in supporting Mermaid’s care. When we fought with dermatology to have the biopsy done because they said it would be too “traumatic”, he gladly did it for us and she was a champion. In fact, everytime we went to see him there on after, she said she would let him have another mermaid scale if he wanted. When Yale wanted the biopsy sent to them, he put it into action without hesitation. When we needed physician approval for the wart-PEEL, he signed off on it and backed my decision to trial it, knowing it may be a bit controversial – and to date, it has been the best treatment we have had.

Though our early days left him perplexed and we were sent to Dermatology, we never quite stuck with anyone and he became our safety net for all our needs. It seems kind of silly to recognize just how upset I am about it when there is a huge pool of perfectly educated Physician’s to choose from but when someone has been there from the beginning, it’s hard to let go.

Some of you know, others don’t, but after Mermaid I got moderately ill. Enough that after 2 years of treatment a decision was made that I had to have a hysterectomy. When the decision no longer feels like you own it because there are no other options, you crumble a little bit. Throughout that process he has definitely seen me at my worst. Within a matter of a few short years I rode quite the emotional roller coaster between Mermaid and myself and through it all, he was with us, helping in every way he could. For the care he has provided I will forever be grateful.

While we sift through a period of limbo searching for our next permanent physician we may turn to all of you more than normal for help and direction. Luckily, we have all of you! So, with that being said… were looking for some advice!

Mermaid’s hand seems to be progressing again. I don’t want to use the peel on the surface of her hand due to potential scarring and pain but not only has it cracked and bled it’s now thickening. Aside from “moisturizing”-  those of you that deal with the thickening aspect of it, what do you recommend and does anyone have experience with hand lesions specifically? It’s such a sensitive spot and I hate to cause any damage drawing additional attention.

Have any secrets you care to share?

Wish us luck!

Thanks for walking with us today!

Mermaid’s Mommy

Lending a helping hand…

“There is no exercise better for the heart than reaching down and lifting people up.”  

I rarely use this platform for anything not related to our Nevus journey. However, when I do, it’s for good reason, and THIS, deserves your attention.

With the help of Nichole Montgomery and the approval from Lauren Wallaert, I am reaching out for help by way of donations and prayers. I know this platform reaches people across the World and hope you will take a minute to look despite it being a different subject matter than your used to seeing from us.

I grew up in a small town, a very close knit community and one of my childhood friends who now resides in New Mexico, was involved in a very traumatic accident this past weekend. Neither time nor space can change that we come from the same place and in time of need, we reach out. While riding his motorcycle with friends, and wife on the back, an SUV crossed into their path at a high speed causing them to wreck.

13933468_1022932727814841_1361747011_n

As of now Jeremy and his wife Lauren are receiving care in separate hospitals, I can only imagine how difficult it is to be apart during this time. Both of them have had portions of a leg amputated and Jeremy may need further surgery to amputate more. They sustained other substantial medical injuries and have a long road to recovery.

13942207_1022932841148163_62222996_n

Jeremy is self employed and at this time it is still unknown how long they will both be in the hospital. They have a blended family and share children,  including a little girl together, who now has 2 parents that are not only embarking on a long road to recovery, but a new way of life.

13546627_1470605600_5246

I have included the news story below and a link to the Gofundme. Yes, the goal is high but remember, we are talking about an entire family needing help, not one person.

I typically pass these things up unless I truly know it’s valid or needed and I can personally vouch for this. Remember, it’s not about the amount we give, every single dollar adds up if we all give a little. Please take a look and share!

Gofundme Link:

https://www.gofundme.com/2jtrdwak

News Stories:

Original –

http://www.koat.com/news/1-dead-at-least-2-others-injured-in-sandoval-county-crash/41084142?utm_campaign=KOAT&utm_medium=FBPAGE&utm_source=Social

Latest information:

http://www.kob.com/new-mexico-news/victims-identified-in-fatal-crash-on-state-highway/4227460/

I will also ask you to keep the other families involved in your thoughts and prayers, as noted in the news article, a 15 year old girl lost her life that day and other members of their extended family were in the car. Where Jeremy and Lauren survived, someone else did not and I can only imagine there are a lot of people out there grieving her loss.

In the blink of an eye so many lives were altered.

“No one is useless in this world who lightens the burdens of another.”
– Charles Dickens
From our family to the Wallaerts, may you find strength and faith during your recovery, you are in our thoughts and prayers and we hope you are home soon with those beautiful children!
Thanks for walking with us today,
Mermaid’s Mommy

Isotretin what?

ok… it’s Accutane, otherwise known as Isotretinoin or Roaccutane, depending on what part of the world you are in. Most of us just think of it as acne medication but has recently been suggested to a friend for ILVEN. So let’s take a closer look at how it works and the risks.

Accutane is a form of vitamin A and is part of a class of medications called retinoids. It was originally marketed as a chemotherapy drug.

Exactly how Accutane works on a cellular level is unknown but we do know that it affects all four ways that acne develops.

  • 1. It dramatically reduces the size of the skin’s oil glands (35%-58%) and even more dramatically reduces the amount of oil these glands produce (around 80%).
  • 2. Acne bacteria live in skin oil. Since oil is dramatically reduced, so is the amount of acne bacteria in the skin.
  • 3. It slows down how fast the skin produces skin cells inside the pore, which helps pores from becoming clogged in the first place.
  • 4. It has anti-inflammatory properties.

 

Number 3 and 4 are probably the most important factors when considering this drug for ILVEN.

The most common side effects of Accutane are dry skin, itching, rash, dry nose, nosebleeds, cracks in the corners of the mouth, dry mouth, dry lips, cracking or peeling skin, inflammation of the whites of the eyes, dry eyes, joint pain, back pain, dizziness, drowsiness, nervousness, or changes in your fingernails or toenails.

There are more severe side effects but they are very uncommon and let’s honest here, all medications come with a laundry list of side effects, however, here is one of the more significant ones.

Accutane can cause birth defects in babies, so women should never take the drug if they are pregnant. I found some literature stating that women have to sign an agreement to take two different forms of birth control and take pregnancy tests while they are on Accutane, to make sure that they do not get pregnant while taking the drug. Because of all of the negative side effects that Accutane can cause, the negative aspect of the drug has been played up significantly.

There is no scientific evidence proving that Accutane can cause infertility later on years after taking the drug, but there are lots of online forums and message boards that indicate that many women think that Accutane is the reason for their fertility difficulties. I visited many of these me boards and asked for feedback, to my surprise, several people wrote back that they did in fact get pregnant in time.

I must have read 10 different case studies that offered little to no information about why Isotretinoin did not work as therapy for ILVEN but all cases suggested minimal effects. Minimal meaning, it DID in fact have some effect, just not enough to continue.

To my fellow readers, I am curious to know if you have tried this form of treatment and if so, what were the results? Do you have any advice for those being offered this as a potential treatment? Thanks for your feedback!

Thanks for walking with us today,

Mermaid’s Mommy

 

Ivy leagues of the sea…

On our journey to navigate through Mermaid’s disease we have learned that the statement “It takes a village” could not ring more true. We have found that the knowledge base and research surrounding LEN/ILVEN can be very limited at times so we tend to rely on the experience of others with the same condition to learn and share from one another’s experiences. When a fellow member of our support group reached out to me after reading my blog about a potential opportunity to aide in research of the disease, I was elated!

  This week we received an invitation to participate in a research study of people with skin disorders at Yale University School of Medicine/Yale-New Haven Hospital. 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.

quote-research-can-be-undertaken-in-any-kind-of-environment-as-long-as-you-have-the-interest-i-believe-sumio-iijima-239611

  There are several steps coming up that we will share with you along the way including a skin biopsy and a biological sample. The biopsy can take 2- 6 months to get a final result on but we are excited to be on a path to having it done as we have asked about the necessity of having one from day one. Where LEN/ILVEN dont seem all that different they really are, so the more I learn about the different types of nevus the more it becomes relevant to me that knowing the pathology will pave our journey moving forward.

Coordinating care between physicians can be a slippery slope. It goes back to my experience thus far that each physician has a different level of knowledge & comfort, a different idea of what is and isn’t necessary and a different opinion about treatment. One piece of advice I have received from many other parents is to get a second opinion, the more eyes the better. Which means, we have a busy few months ahead of us. As we seek to get a second opinion, coordinate our biopsy, perform the biological sample and sift through our stack of paperwork I can’t help but be thankful for how far we have come.

When I started Mommy’s Mermaid my intention was to build a place I could chronical our journey and others could stop by to find common ground and support. It felt like a long shot but this is just one example of how it has served it’s purpose. Thank you Lauren McAdam for recognizing our eagerness to be a part of the bigger picture and reaching out to us. We are eternally grateful and proud to call you our friend.

Thanks for walking with us today,

Mermaid’s Mommy