Friday, May 15, 2015

Ichthyosis Awareness Month 2015: Evan's Skin

Sometimes it is hard to wrap my head around the fact that Evan cannot live without Aquaphor. Seems hard to believe that something as "simple" as putting on lotions/emollients is keeping him alive. Or that bathing multiple times a day not only hydrates him and keeps him infection free but makes it easier to move around, without pain. Having healthy skin was something I definitely took for granted before Evan came along. I never in a million years would think that not having healthy skin (excluding cancer) was something that could be life threatening.

Evan's skin cells are not functioning properly. The mutation in his ABCA12 gene disrupts the transportation of lipids to the epidermis which is necessary to keep the skin pliable and hold in the body's moisture. His body's automatic defense is to make new skin, for protection, which is growing much too quickly to shed on it's own. Untreated skin will encase the body restricting movement & breathing, cause fissures and open wounds susceptible to infection, cause dehydration at an accelerated rate and manipulate facial features & digits, just to name a few.

Over the years, medical treatments have vastly improved for those with ichthyosis, especially Harlequin. Prior to 1984 no one, affected with HI, survived birth. It is just mind boggling that, in my lifetime, the evolution of medical care for HI has advanced so rapidly. I can only imagine the kinds of treatments (or cure :)) that will be available when Evan is 30!! I am very optimistic about the future medical advances that will be made for this disorder. And thanks to foundations like FIRST, stepping closer to a cure is possible!

Evan's skin care these days is the same ol', same ol' regimen. I think of caring for ichthyosis not as "lather, rinse, repeat" but "bathe, exfoliate, moisturize, moisturize, moisturize, repeat". Evan gets two 40-60 minute baths a day to exfoliate and hydrate, he's lubricated with Aqauphor (head to toe) 5-6 times a day, receives eye drops while awake and eye ointment while sleeping and gets frequent ear care and nail care when he's tolerant. And due to his hydration and caloric needs, he drinks a high calorie prescripted formula for nutrition,  a minimun of 36oz of water each day, and is offered unlimited snacks and "meals" (this kid is so picky he will only eat 3 specific meals/foods).

I think Bruli would totally jump in if I let him!

The biggest change in Evan's skin care, these days, is his MicroSilk tub. We have had it for almost 4 years and Evan has used it many many times. But now that he is finally reaching some gross motor milestones (sitting), it is easier to give him a bath in his big tub. One flaw of having a (almost) 5 year old that is the size of a skinny 18 month old, is that I have been getting away with using the infant tub one time too many. Since Evan is finally able to verbally communicate, he makes it very clear that he doesn't want to take a "blue bath" and I don't blame him! Evan LOVES his MicroSilk tub. This tub emits millions of oxygen rich bubbles, so small they are intended to deliver oxygen to your pores. Since Evan essentially does not have pores because his skin is so tight, I hope and wonder that this type of bath technology is making it possible to treat his skin in a new way. Not only does this tub significantly help with skin management but Evan is happy, relaxed and comfortable when using this tub.

I am very thankful that Evan was our first child. Ichthyosis and motherhood coexisted. It was all I knew what being a mother was like. There was never a time when Aqauphoring, after a bath or diaper change, seemed anything but normal. Now as a mother of two, Evan's baby brother being unaffected, makes me appreciate the little things. I probably would never think of how easy and quick a diaper change was if Evan was the younger brother. I am glad that I am able to appreciate these types of changes between caring for both boys instead of being discouraged about how easy it "use to be" if Vincenzo was born first. I like how ichthyosis has made me appreciate the finer things in life because with all considering we really do have a wonderful one.


Sunday, May 3, 2015

Ichthyosis Awareness Month 2015

It's Ichthyosis Awawreness Month!! A month we recognize this life long disorder and come together to spread awareness. For the past few years I have hosted fundraisers for the FIRST Foundation. I contributed to "It Makes Cents to Help FIRST" and hosted two T-Shirt sales, Evan's FIRST Fundraiser, to raise donations for the foundation. This year has been very busy as our newest member was recently welcomed. So my time has been consumed with my two little miracle boys. But as luck may have it, FIRST started the RAISE Campaign to "Raise Awareness, Funds and Hope for FIRST".

So can you help me RAISE for FIRST??? Donations of any kind are the stepping stones to a promising future for those affected! For everyone who makes a donation, I will send a custom magent with the Evan's FIRST Fundraiser 2013 design on it, as a thank you! Any awareness that can be brought to ichthyosis or FIRST would be greatly appreciated!!! Feel free to share this photo! It can also be shared from our Facebookpage as well!


And how I always love to start off Ichthyosis Awareness Month (IAM) is with the facts:

There is no cure for Ichthyosis.

Ichthyosis affects people of all ages, races and gender.

Ichthyosis is not contagious. It is caused by a genetic mutation in 1 of 40 genes that make up the skin.

- Ichthy comes from the Greek root meaning fish.

Some form of Ichthyosis affects more than 16,000 babies each year.
There are more than 28 forms/types of Ichthyosis.
Hearing and vision impairments are associated with those affected by Ichthyosis.
Ichthyosis Vulgaris is the mildest and most common form, accounting for about 95% of the cases.

Serious medical complications are associated with most forms of Ichthyosis including dehydration, infections, blistering, overheating, and rapid calorie loss.

The FIRST Foundation is the only patient advocacy organization in the country funding research for a cure.

Facts about Harlequin Ichthyosis:

Harlequin Ichthyosis (HI) is very rare and the most severe form of Ichthyosis.

HI affects maybe 1 in 1,000,000 people.

Each parent has to be a carrier of the mutated gene but show no signs of Ichthyosis.

An HI infant is born with plates of skin that crack and split apart leaving the body susceptible to life threatening infections.

At birth, the eyes and mouth are forced 'inside out' due to the tight plates of skin.

The ears of an HI infant may appear to be misshapen or missing, but are fused to the head by thick skin.

In the past, this disorder was always fatal but due to improvements in care it is now possible for an HI infant to survive.

The oldest person living with Harlequin Ichthyosis is 31 years old.

-Stephanie Turner (22) is the first woman, with harlequin ichthyosis, to have children.