My World & Ichthyosis

It is Ichthyosis Awareness Month

"....Ichthyosis is a family of genetic skin disorders characterized by dry, scaling skin that may be thickened or very thin. Ichthyosis affects people of all ages, races and gender. The disease usually presents at birth, or within the first year, and continues to affect the patient throughout their lifetime....."

The soul reason for creating this blog was to raise awareness about this life long skin condition. I, as well as everyone in my family, had never heard about Ichthyosis until Evan was born. It was even more shocking to me that not only did I have a very premature baby with Ichthyosis, but he also had the most severe kind of Ichthyosis. It took a very long time for me to really 'understand' Ichthyosis, never mind all the confusing genetic explanations, though I know I still have a lot to learn about it.

Our first family photo & first time holding Evan at 2 weeks old

Many things are going on in the biology of Evan's skin. As I understand it, and explain it to others, Evan's skin cells are not functioning properly. Because of this, his skin is not acting as a strong barrier to hold in the body's moisture and prevent infections from occurring. His 'skin's' automatic defense is to produce more skin to protect the body. Since Evan's skin is in overload, producing at a rate 10 times faster than the average person, he is unable to shed these thick layers which is why it is necessary to constantly and vigorously exfoliate his skin. Since his skin is not holding in his body's moisture, he is always on the verge of dehydration. He has to keep up with his fluid intake to make up for the rapid loss. Though the loss of this water is more like an evaporation process rather than sweating.

Evan is unable to sweat because, it is believed that his thick skin is blocking sweat ducts. Because of this he cannot regulate his own body temperature and can overheat very easily. This is extremely dangerous and life threatening if not properly addressed and cared for immediately. I describe his overheating as if you were stuck in a car on a summer day with the windows rolled up. He has no way of cooling down unless layers of clothing are shed, he is sprayed or dabbed with cold water and put into an air conditioned room. This is one of the most frightening situations to deal with, especially during hot summer days.

Evan's scaly build up when he first got home (and that's my hand and I have small hands)

Evan's skin is lacking lipids which are necessary to keep his skin moist, pliable and to hold in his body's moisture. This results is extremely dry, red, enflamed skin. This is why Evan is constantly being coated  with Aqauphor. It temporarily 'acts' like the lipids he is missing to keep his skin flexible and to hold in moisture. If Evan's skin was not coated in a vaseline type emollient, his skin would easily crack and rip open. He is more susceptible to infection because of these cracks or fissures and lacks the proper proteins or 'good bacteria' to help fight infections from entering the body.

Evan burns calories so incredibly fast that it is hard for him to grow and gain weight (the reason why he is 16 1/2 lbs and 28 inches long at 22 months). The rapid skin growth essentially 'eats up' most of his calories. He also looses calories because of the fluid loss through his skin. He is currently on a very high calorie diet to help replace these calories and nourish his body.

Getting better at scale removal- Evan at 7 months. 

The challenges Evan faces with his skin are common for most types of Ichthyosis. Ichthyosis ranges in severity from very scaly to less scaly, red to not red, severe overheating issues to less, or high calorie loss to some loss etc. etc. Even those who have the same type as Evan, Harlequin Ichthyosis, may have some differences in severity or the medical conditions associated with it. Even though Harlequin Ichthyosis is extremely severe, Evan does not have the most severe case of Harlequin Ichthyosis.

For all who live with the challenges or care for some with Ichthyosis it is an overwhelming condition to keep up with. There is never a time when you can give up, ease up or not maintain a very strict skin regimen. Evan will maintain this meticulous skin care for his entire life until a cure is found. That is why I am on a mission to not only raise awareness but to help gather donations for the FIRST Foundation to find a cure.

A typical ear cleaning. This happens every other day.

Unfortunately for Evan, he has even more challenges to face because of his 9 week prematurity. He struggles with fine and gross motor skills and is extremely delayed for his age, even for a child with Harlequin Ichthyosis. Evan struggles with feedings and the quantity of food he intakes which has always been an issue for us. Especially for the amount of calories he looses in a day, it is stressful to make sure he gets enough. I believe his prematurity plays a part in the lack of appetite he has. We have been avoiding the notion of a g-tube since a surgical procedure is the last thing his skin needs. But since he has never loss or plateaued completely with his weight, his doctors do not think a feeding tube is necessary at this time.

My skin care regimen for Evan may be similar to most who live or care for someone with Ichthyosis. Aquaphor is my personal favorite emollient to use. Although I do not know how Evan's skin feels, he is definitely a very happy boy after he gets Aquaphor and I believe his skin looks its best when we use it. At this time, I am not comfortable changing or trying new types of emollients or lotions since Evan cannot tell me how it feels. Some people living with Ichthyosis take oral retinoids to help with the scaling of their skin. Evan uses a topical retinoid, now and then, but I have never been interested in or comfortable with him taking an oral retinoid. Even though, this type of medication (oral) can help with the 'quality' of his skin, there are too many risks and side effects involved to give it to my child. When Evan is older, he can decide on his own if that is something he wants to do to help his skin. And when he is older he may also decide to use different emollients or practice a different type of skin care regimen. Only time will tell.

This (thickness of card stock) is what needs to come off in order for 

his head to look like the picture below of an average morning

An average scaly head morning.. which is actually very thin if we keep up with scale removal

And my husband is a scale removal fanatic..

This is what I find after my husband has been 'picking' at Evan's head

If you would like to help raise awareness, feel free to share my blog. A donation to the FIRST Foundation will always be appreciated. The FIRST Foundation is a nonprofit organization who help fund research to find better treatments and hopefully, one day, a cure. Check out the following pages for more information about Ichthyosis and fundraisers to help support the FIRST Foundation.

Fundraising Events For FIRST 

About the FIRST Foundation