Today was the last day of Ichthyosis Awareness Month (though not the last day I will be raising awareness). I have been hearing wonderful success stories from the participants who collected donations for my 'It Makes Cents to Help FIRST' fundraiser. I made my way around town today to gather all of the collection jars I distributed and still have many more jars to collect. I am SO EXCITED to count all of the donations to find out what our grand total is, which I will be sending to the FIRST Foundation. Whether you collected $5 or $50, I am very grateful to everyone who participated and helped raise awareness for this life long disorder.
5 gallon bucket at the Watertown Meat Center
Time to start counting
Evan decided to help
Last night, the Mets supported the FIRST Foundation at a home game against the Phillies. I am extremely bummed that we could not make it. I had planned on going with Evan and my husband but as things turned out, Evan calls the shots around here and it was best for him to stay home. Events can be tricky with my little one, always worrying about where he is going to get changed, fed, or cool down. I have to say thinking about going into NYC for a baseball game made me very nervous. Evan is still so needy, not only with his skin care but with his 'baby care' and stressful feedings. Even though Evan is almost two years old, caring for him is still like having a extremely needy infant that doesn't eat well. And with an Ichthyosis baby, diet and calorie intake are extremely important. Though I would have loved to meet some more FIRST families, I know it would have been a stressful evening worrying about Evan. But to all who went, I hope you had a great time and you will DEFINITELY see us there next year. And maybe, hopefully, Evan will be walking by then....
During Ichthyosis Awareness Month, the FIRST Foundation shared stories written by some of those affected by Ichthyosis. A new story was published on their site each day. I was asked by the FIRST Foundation if I would share Evan's story for Ichthyosis Awareness Month. You can read the story I shared about Evan here. The stories shared are written by the person who is affected or by the parent(s) of the child(children) who are affected. Each story is very touching. You can read their stories here.
This month sure flew by fast. I am very appreciative to everyone who has participated in the fundraiser and helped raise awareness for Ichthyosis. Check back soon to find out the GRAND TOTAL for the 'It Makes Cents to Help FIRST" fundraiser. For those who participated, please click here.
I have always been a very maternal person. I am a ‘rule
follower’ for the most part. I come from a big family and LOVE children. I
always wanted to be a teacher, coming from a family of educators and I was able
to use my graduate degree for a few long-term, second grade positions before
Evan was born. I enjoyed that time
and look forward to being in the classroom again someday. But throughout my
life, no matter who I was with or what I was doing, I have always valued the
acceptance of others.
I was never one to judge someone on his or her appearance. I
was never one to stare or be rude to someone who was ‘different’ than me. I
have always had a spot in my heart for others with special needs and teaching
children with special needs was rewarding for me.
While pregnant, the thought did cross my mind about having a
child with special needs. Whether it was before or after the suspicious
ultrasounds I don’t remember, but I always knew that I would love my child no
matter what. The topic of ‘prenatal testing of genetic disorders’ came up at a
party, while I was pregnant. The conversation was filled with mixed perceptions
on what you would do if you were told that your unborn child had a genetic disorder.
The conversation baffled me when I heard some others mention ‘termination’.
Terminate?? I could not understand why or how anyone could consider doing that
to their own child. When it comes to this topic, my opinion is that a prenatal confirmation
of a genetic disorder is just preparation for you and your child’s future.
In a way, that is pretty much what happened in our
situation. My ‘red flag’ ultrasounds started at 27 weeks and then we were given
a diagnosis 2 days before Evan’s delivery. Since I already knew that I would
accept anything that came my way in life, it helped me stay strong during that
intense time. As soon as we heard the diagnosis, Harlequin Ichthyosis (HI), I
accepted it. When they said HI would be the “worst-case scenario”, I accepted
it. When it was confirmed in the operating room that our very premature baby
had Harlequin Ichthyosis, I accepted it.
Just because I had this acceptance for what was happening didn’t
mean I wasn’t sad. I stayed strong and tried not to cry or become emotional but
my heart was broken. Not for me but for Evan. I had accepted what had come my
way but I wish it didn’t come with pain, with fear or with uncertainties. But I
guess that is a part of acceptance.
Evan is my life. I have accepted him for who he is and love
him even more for it. I have accepted this life of caring for him 24/7 and
wouldn’t have it any other way. I have accepted the fact that there will be
many challenges we will face in regards to his skin and complications from it. I
have accepted his developmental delays and know he will catch up one day. But it
is hard for me to accept the fact that he will be judged and will face many
uncomfortable social situations because of his appearance.
I am very protective over Evan while in public. To this day,
I still keep the visor up over his car seat, while in stores, to ‘protect’
him. Protection in many ways: from
the sun or elements, from germs and from looks. When I first started bringing
him out in public, I feel that I was always looking for the people who stare and
would get very offended. Now, I do my thing and make eye contact if I notice
someone staring and smile a big grin. I try not to let it get to me, though
some days are better than others. At least 95% of the time, we have good
experiences and I actually prefer people to ask questions than to stare.
I worry what life will be like for Evan as he grows up. I
hope and pray that others accept him and I hope that he has a good school
experience. I know we will teach him to be strong and to keep a positive attitude
on life. We live in a wonderful community so I’m not too worried, but then
again, some people can be cruel.
That is why I want to raise awareness in our community and
abroad. I hope that raising awareness will be a way for others to accept Evan
for who he is and not what he looks like or what his abilities are. I want
everyone to be educated about Ichthyosis and not to judge Evan on why he his ears
look different or why he is red, or scaly, or has thick yellow nails. I want
people to know the challenges he faces everyday and not just because of his
appearance but because of the grueling skin regimen he has to endure to be
comfortable and to prevent serious medical situations. I wish Evan could have a
care-free childhood and didn’t have to worry about his skin every moment of the
day. And I want Evan to have the childhood he deserves without worrying about
bullies or mean spirited people. I hope everyone who meets Evan will accept him
for who he is.
Acceptance is a powerful word. It’s a word that everyone
likes to hear but should be an attribute that everyone portrays.
The 'It Makes Cents to Help FIRST' coin collection fundraiser has been running for almost 3 weeks. I have been hearing from many participants that they are doing well with their collection while raising awareness for Ichthyosis. As of right now, there are more than 20 collection jars out raising donations for the FIRST Foundation. There are over a dozen towns participating in Connecticut including businesses/workplace, schools and personal collections at home. There are participants raising awareness in Massachusetts, Rhode Island, New York, New Jersey, Pennsylvania, California, Illinois, and our neighbors to the north, Canada. (Let me know if I missed your state!)
In Prince Edward Island Canada, my brother and his family have been doing a great job raising awareness. A local farmer donated dozens of tulips to be used towards the fundraiser to collect donations for the FIRST Foundation. So far they have raised almost $300. I am in awe of everyone's generosity and their dedication to help raise awareness for this life long disorder.
In Connecticut, my father in-law has been raising awareness at his school and in his community. He is a teacher at the local middle school and has taught some lessons on Ichthyosis. He also put together a raffle during lunch time, in the school cafeteria, where students can try to win iTune gift cards. All of the money he earns will be donated to the FIRST Foundation and put towards the grand total for the 'It Makes Cents to Help FIRST' fundraiser. A few other participants in Connecticut will be making donations directly to the FIRST foundation in their school's name or business/workplace's name.
Here are a few pictures sent to me from participants and their collecting jars. Feel free to send me a pic of you holding the donation jar or the area where you are collecting @ dede583@hotmail.com
Pictures include participants from Connecticut, Pennsylvania, Illinois and Canada
Just a reminder about tallying up donations at the end of May. Hopefully you like to count :-) If you live in the area and would like me to count your donations that is fine by me. If you cannot get your donations to me or live out of town or state, I would very much appreciated it, if a check was written to the FIRST Foundation for the exact amount you collected. This check (or cash donation) can be sent to Evan's FIRST Fundraiser PO BOX 500, Goshen, CT 06756 (though checks are preferable). All of your donations will be counted up to get the grand total for the 'It Makes Cents to Help First' fundraiser and then sent to the foundation. I appreciate everyone's help and willingness to participate in this fundraiser while supporting this amazing foundation.
Evan was born into a situation which could be thought of as an 'ideal' situation for the birth of an HI baby. Granted his premature birth was not ideal, the amount of educated doctors and nurses who had experience with Ichthyosis and were aware of his diagnosis before he was born, seems 'ideal'. We were very fortunate for the amount of education about Harlequin Ichthyosis that surrounded us at the time of his birth and neonatal stages.
Looking and thinking back to the time of Evan's birth, I can still remember how confused and unclear Ichthyosis was to me. The thought of Evan possibly not surviving an infection didn't make sense in my mind. After consulting with Evan's dermatologists daily I started to have a better understanding about his infection risk but still had so many questions and uncertainties about Harlequin Ichthyosis. A week after Evan was born, National Geographic aired the episode Extraordinary Humans: 'Skin' which examined two different skin disorders, one being a girl with Harlequin Ichthyosis. My husband and I downloaded it, since we missed the original air date. We were amazed with the amount of information we learned from it. It gave us an optimistic outlook for Evan's future. If you have not seen this video before, I recommend you educate yourself and watch it by clicking here. I could not tell you how many times we watched that video. Not only did it educate us about the details of Harlequin Ichthyosis (HI), but it prepared us for events that we could face (i.e. g-tube, skin care, eye care, hair growth, social situations etc). Seeing Hunter's optimistic view on life and mission to educate others is inspiring. I have not met Hunter in person but look forward to meeting her and introducing Evan to her in the future.
Ichthyosis Awareness Month is about raising awareness for this life long disorder. Unfortunately last year, I did not eagerly promote Ichthyosis Awareness Month. A year ago, Ichthyosis still was very new to me and I was still so overwhelmed with it. I considered participating in FIRST's 'It Makes Cents to Help FIRST' coin collection last year but as I said, I was still so overwhelmed with Evan care (but very excited I carried on the idea this year). After Evan's 1st birthday and first summer I had become more comfortable with his care and how to deal with the challenges associated with it. Evan's second Christmas seemed more like it was his first. Especially since he is developmentally behind and was acting more like an infant this time around. After Christmas had past, I stumbled upon a blog about a baby that had recently been born with Harlequin Ichthyosis. I instantly felt connected to this family and was eager to help in anyway I could, having just gone through an HI birth 18 months prior.
I stumbled upon this blog Blessed by Brenna which I had found through the FIRST Foundation facebook page. My family connected with the FIRST Foundation when Evan was born but we did not reach out to anyone who was affected by Ichthyosis until I read Courtney's blog. It was the moment when I knew I was ready to reach out to another family. I wanted to help answer any questions or give them any tips about caring for a Harlequin baby. Her entries inspire me and I admire her strength and willingness to share Brenna's story to help raise awareness for this condition. My initial plan from the get-go was to send her family a care package of skin, nail, and ear care items that could be beneficial for her little girl when she came home. Coincidentally enough Brenna's care package arrived the day before her discharge. It was so exciting and relieving to read about Brenna's discharge which stirred up emotions of my not so distant memories.
Another reason why I felt so connected to this family is because Brenna's daddy's name is Evan. I literally almost fell off my chair when I first read it. I am so glad I reached out to this family. I have enjoyed connecting with Courtney and I am looking foward for the day when we get to meet her and her beautiful family. After I reached out to Courtney's family, I was interested in connecting with other families who were affected by Ichthyosis. I have been fortunate enough to have met two different families and their affected child and know will be friends for life. :-)
Each year, Rare Disease Day is celebrated the last day of February. As I researched into Rare Disease Day on it's official site, it listed a few ideas on how to raise awareness. One idea was to start a blog. I had never read, followed or even thought of creating a blog before I found Courtney's. She inspried me in many ways to create a blog to raise awareness and to finally reach out to the Ichthyosis community. I set up this blog with intentions to educate others about this life long disorder as well as supporting the FIRST Foundation by raising donations to help fund research to find a cure.
Since Ichthyosis Awareness Month it is about raising awarness and educating others. Here are a few links of informative sites and blogs of others caring for or living with Ichthyosis.
I’m sure every mother of a NICU infant will say it was a very
INTENSE experience. I definitely had my concerns only being 30 weeks pregnant
as I was admitted for pre-term labor of my first child. Being at Yale set
my mind at ease a bit, knowing I was in good hands. Since we had suspicious
ultrasounds, I wasn’t completely surprised this was happening.
When I arrived at the hospital the doctors said they wanted
to ‘keep me pregnant’ until I was at 34 weeks. ‘Say what????? 34 weeks?????’ I
didn’t think I would ever make it that long. The first night in the hospital
was not fun. Not only did we receive a possible diagnosis of Harlequin
Ichthyosis, but I had a ‘medical episode’ due to the magnesium sulfate I was
being pumped with. For the next few days I was cut off from food and water due
to steady contractions. A cesarean delivery was the only possible birth plan
for our baby since he was breech the entire time I was at Yale.
On our third day at Yale, a meeting was being organized to
talk about the diagnosis and possible premature birth of our baby. The meeting
was arranged for 5:00pm and both of our parents were coming to the hospital to
attend this meeting with us. Well, Evan decided to ‘join’ that meeting and was
born at 4:56pm. His birth was not expected at that moment but since the doctors
and nurses knew about his possible diagnosis, they had the proper care waiting
for him once he was delivered.
Now, this meeting was focussed on what to expect for our
baby’s future. I honestly cant remember hearing anyone say, ‘death’ or ‘might die’.
I only remember hearing, “We have to make sure he DOES NOT get an infection.” I
may have tuned out those frightening words or maybe not, since we had expert dermatologists there from the moment of his birth. I still did not understand what his skin condition was all about. The only question I thought
of asking his dermatologist was “What about a cat and a dog?” I’m sure the meds
from surgery were not helping me focus never mind the shock of just delivering my baby premature.
A few hours later we went down to Evan’s private NICU room.
They rolled my bed right next to his Isolette and all I could see was his tummy
going up and down because there were wires and tubes everywhere. His mouth was
not visible due to the breathing tube and pads to protect his skin but I could see glimpses of his enflamed puffy lips. I could not see his eyes since they were covered with a moist cloth. I remember seeing a lot of bloody red cracks by his diaper area and at all of his joints. It felt like a dream and was hard to believe that my 30 week 5 day old
baby was not in my belly.
The 10th floor is where I was in recovery, Evan was on the 4th. It was a strange feeling when people would say "Congratulations" to us. The nurses on the Postpartum floor did not know about Evan's situation though they knew he was in the 'New Born Special Care Unit'. I felt guilty for not being happy about having my first child and was somewhat offended when I heard "Congrats". Unfortunately, it was not the happy joyous occasion that most mothers experience with the birth of their first child. I did not get to hold my baby, feed or even touch my little boy. It was hard for me to to walk into the nursery on our floor (while storing my breast milk in the fridge) to see all of these healthy babies whose parents could come snatch them up to cuddle and care for them. It was really upsetting to look through the 'new mom' packets and seeing brochures for family photos that could be taken at the hospital. I really wanted to cry at that moment but wouldn't let myself because I wanted to stay strong. My husband was having a hard time so I knew one of us had to hold it together.
The morning after. They made me STAND UP less than 24 hrs after surgery. AHHHH
The next day, someone from the hospital came into our room with the birth certificate information. Evan's name was not planned since we had another name in mind. When this woman asked what his name was my husband and I looked at each other and realized we never thought about what to name him at that time. That night I researched some names and wanted to find something powerful because I knew he would survive. When I found Evan, it read "Young Warrior". I looked up at my husband and said, 'Evan'. And that was it. When my mother told my grandfather what we had chosen for a name he responded with, "Evan for Evalyn." Who was my grandmother and is my middle name. That instantly made me realize that my grandmother was already an angel protecting him and made his name even more powerful.
I was in the hospital for a week and we went down to Evan’s
room every morning. The nurses and doctors were so wonderful, warm and friendly
and kept my husband and I in the loop about EVERYTHING. We quickly became
familiar with the medical lingo and were already helping with Evan’s skin care
treatments and diaper changes. It was incredibly scary trying to avoid his
umbilical lines (pretty much his lifeline) while doing these tasks since they had to replace them often due to the slippery Aquaphor.
A few days after Evan was born, the doctors were concerned with the very tight skin on his fingers. It was cutting off the circulation of his middle and ring finger on his right hand. The neonatologist and plastic surgeon mentioned an amputation might be the only solution. Fortunately Evan's dermatologists performed an 'experimental' procedure where they cut slits at each joint, in those fingers, to relieve the pressure and thankfully it worked.
It was a very sad day for us to leave the hospital without
our boy. Again, I did not cry and remained strong but it was hard to see other
mothers leaving with their brand new babies. Unfortunately we lived about 1 ½
hours away from Yale. It was hard to be so far away at night from our baby. Evan’s phone was ringing off the hook at night since I had to make sure things
were going well. I couldn’t drive for the first month so friends and family
would drive me down each morning. My husband would meet me there after work,
stay for a few hours and then we would drive home. It became ‘normal’ for us to
go see Evan in the NICU. I had a pretty habitual routine getting to Yale at
around 9am each morning and running straight to the breast feeding room to pump
(and every 3 hours). It’s weird to say this, but I enjoyed being there caring
for Evan and 'hanging out' with his nurses.
Evan was extubated when he was a week old (probably thanks
to those gigantic steroid shots they stuck into each of my legs). He progressed well and
was shedding the thick plates of skin very quickly. He was put on an oral
retinoid the first week of his life but it made him very sick and was
immediately taken off of it. He was tube fed up until
close to his discharge date. We introduced breast feeding to him when he
was only 2 1/2 weeks old (33 week gestational age). He was tube fed at the same time as breast feeding
and bottle feeding until he actually started to ‘take to them’.
Evan's first bath 3 weeks old
Evan 5 weeks old
My husband and I performed all of Evan’s skin care treatments and baths
while we visited him in the NICU. His nurse wanted to make sure we were
‘properly trained’ and comfortable caring for his needs. Every day Evan was
making huge gains in regards to his skin. It was comforting to know we had expert dermatologists who were monitoring his skin daily. We were also blessed with a nurse who
cared for a colldian baby 18 years prior to Evan’s birth. She answered many of
our questions regarding skin and premature babies.
We were on a roll and the word discharge was brought up when
he was 6 weeks old. I was soooooooo excited we were even talking about Evan
coming home. There was never a time where we got a negative or concerning
report form the doctors until the day before Evan’s discharge meeting. I
received that dreaded phone call as I was entering New Haven. Evan’s attending
doctor said, “We have a few concerns that I need to talk to you about when you
get here.”
Of course the next 4 miles I had to go seemed like 1,000.
Evan had stopped eating from the bottle the night before and was put back on a
feeding tube. He was also vomiting everything that was put into his belly and
he seemed to be in a lot of pain. Evan’s Neonatologist said they were doing
blood work to check for infection and getting ultrasounds to check his
gut. All day long we were waiting
on the results. Luckily he did not have an infection but unfortunately had an
incarcerated hernia and needed an emergency surgery to correct it.
Evan after his surgery 7 weeks old
This set Evan back about a week and a half. He quickly
healed from surgery (due to his super fast growing skin) and stayed infection free. He was not allowed to bathe for a few days and missed about 4 baths. This is when I realized how fast the scale grew back. Places that looked great prior to surgery, were starting to look dark and thickened. Before his discharge, I stayed in the hospital for 3 days to exclusively breast feed Evan. We needed to be sure he
would get enough calories, fluids and could maintain his sodium levels.
Unfortunately breast feeding alone was not enough so I was told that I could
only nurse him once a day. I was disappointed but the thought of Evan being home made everything better.
August 7th was a joyous day for our family.
Finally we were bringing our baby boy home. I was impressed that with
everything he went though he still came home 5 days before his actual due date.
Since Evan was our first child we were anxious to spend some one-on-one time
with him at home without any guests. We wanted to spoil ourselves for a few
days and I’m so glad we did.
Finally home with his Mommy and Daddy
P.S. Don't worry I am human and cried about 5 times while writing and editing this :-p
- 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 28 years old.
"....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.
