Ichthyosis Awareness Month - Remembering Thomas. Today he would have been one year old.

This is the saddest post I've had to edit and publish. Today is Thomas's birthday. He would be one year old. He passed away from infections resulting from his Ichthyosis (KID Syndrome) in December, aged six and a half months. I wrote about Thomas before I even knew his name, urging people to remember that severe skin conditions are not just cosmetic. I remember reading about the news of his death - the Ichthyosis community is so small - and feeling so sad for his parents. I got in touch with his mum Ashlee soon after. 

This beautiful baby boy is so missed and loved by his parents. I see photos of them decorating his grave - and despite the sadness, celebrating his life. They are so strong and so compassionate. 

I asked Ashlee if I could honour Thomas by publishing her story. She agreed - committed to raising further awareness about Ichthyosis in the midst of her grief. I know how difficult it was for her to write it. When I first read her story, I saw that Thomas's birthday fell in May, and so I asked her if I could publish it today. She said yes. 

A few weeks ago Ashlee and her husband Buddy announced some wonderful news - they're expecting a baby! I am so happy for them, and I hope the pregnancy goes well and that their new baby is born healthy.

Meet Ashlee, and remember Thomas. I hope you'll leave a comment of love for the family. 

"It was about 2:55 in the morning on Thursday, May 22, 2014, when mine and Buddy’s world was completely turned upside down and inside out. We had only been in bed for about 20 minutes when my WATER BROKE. I started screaming. I was scared to death. It was too early. Thomas wasn’t supposed to arrive until July 2. “What are we going to do?” I kept asking hysterically. Buddy tried to calm me down telling me that everything is going to be ok. We arrived at the hospital around 4:30 a.m. and Thomas was born at 10:36 a.m. He weighed 4 lbs. 12 oz. and measured 17 in. long. He was perfect! He had the most beautiful little lips that I could not wait to kiss! Sadly, he was taken from my arms just minutes after he was born to be transported to the NICU (Neonatal Intensive Care Unit) due to being so small.

About an hour after Thomas was born one of the doctors visited Buddy and me in our room. He first informed us that Thomas would have to stay in the NICU at least 2-4 weeks, possibly until his due date to gain weight and learn how to eat. When Thomas was born, he was covered in vernix, a white substance that covers babies’ skin when they are in the womb. Since he was born so early, Thomas had a good bit all over his body including his head and face. The doctor informed us that the covering couldn’t be cleaned off of Thomas’ head because it was his skin… Thomas has Ichthyosis. “Ichthy what? Can you please repeat that and maybe spell it for me?” Buddy and I had never heard of it. Ichthyosis is a rare genetic skin disorder characterized by dry, scaling skin that may be thickened or very thin. The doctor informed us that a geneticist was on his way to look at Thomas and confirm the diagnosis. He also informed us that Thomas was born with hand contractors, where his fingers bend towards his palm and cannot be fully straightened.

WOW! After just 20 minutes of sleep, an epidural, birthing our baby, and then finding out our baby had Ichthyosis and hand contractors, we were, we were… well there are no words that could describe how we felt.

We were then able to go back to the NICU to see our precious baby. The doctor, geneticist and hospital dermatologist met us there. They spent several minutes observing Thomas from head to toe. Thomas was born with no hair or eyebrows. He did have a row of eye lashes that only lasted a day or two. The doctors pointed out that Thomas’ finger nails were different. After deep observation, the three doctors confirmed that Thomas has Ichthyosis. The geneticist informed us that there are many different types of Ichthyosis ranging from very mild to very severe. He recommended we wait and see a pediatric dermatologist before having testing done. He said she could probably look at Thomas and be able to pinpoint the tests to proceed with. We were going to have to wait a month after Thomas was discharged from the hospital to meet with the dermatologist. They also said the skin condition could be related to a syndrome; and that sometimes it is associated with hearing loss. We were left in tears and had so many questions. The geneticist warned us to be careful when Googling Ichthyosis because there are so many different types and Thomas may not fall into the categories we find. Buddy and I spent several hours racking our brains trying to figure out who in our families might have Ichthyosis because it is hereditary and neither of us had it so we assumed it was a recessive gene. We spent the evening loving on our precious gift from God.

Thomas spent 20 days in the NICU. He had to sustain his weight and learn how to take a bottle. When we brought Thomas home from the NICU, the flood of doctor’s visits began starting with an appointment to see an audiologist because Thomas referred in both ears during his hearing screening at the hospital. The skin in Thomas’ ears became thicker due to the skin condition. He also had tiny ear canals, so we were praying those were the reasons he referred. The audiologist was not able to perform the tests effectively due to the skin build-up in his ears and small ear canals. She then referred us to an ENT who cleaned Thomas’ ears out and recommended we wait a couple of months before testing again to give Thomas some time to grow.

We then met with a physical therapist and an orthopedist for Thomas’ hands. We were given stretches to do with his hands, arms and legs. The orthopedist said Thomas would most likely have to have surgery on his thumbs because he had trigger thumbs and they rarely correct on their own. The physical therapist got us set up with Hand in Hand, an early intervention program. An occupational therapist visited our home twice a month to work with Thomas.

Then, the appointment we had all been waiting for… dermatology. We were told by the doctors at the hospital that Thomas was setup to see the best pediatric dermatologist in the state so we were very hopeful she could help us. We spent a great deal of time explaining to her everything we knew about Thomas up to that point. After examining him, she said she strongly believed Thomas had KID Syndrome but that we would do blood work to confirm. Buddy acted like he knew exactly what she was talking about and I was completely puzzled. She then explained that the “D” in KID was deafness. “Deafness?” Tears started to puddle in my eyes. She went on to explain that the “K” is for Keratitis, eye problems. And, the “I” is Ichthyosis, which we knew he had. Our doctor’s nurse brought me a tissue as I was having a really hard time keeping it together. “So, our baby is deaf and blind,” I kept asking Buddy as we walked to the car. He tried to calm me down and explain everything to me. He had already done research on KID Syndrome so he was familiar with it but didn’t want to tell me because he was afraid I would worry, and he also didn’t believe Thomas had it because it is EXTREMELY rare (only 100 cases reported). I was devastated. We decided we would only tell our parents and siblings until his diagnosis was confirmed.

The week of July 20, started the worst week of mine and Buddy’s lives, well we thought. That Sunday was our very first Sunday to attend church as a family. But Thomas woke up with a rash all over his body and after showing him to a couple of people at church, Buddy and I decided to take him to Children’s After Hours, who decided to send us to the ER because Thomas had a fever. After spending almost all day in the ER, the doctors sent us home because Thomas was no longer running a fever and it didn’t seem to be a serious rash. The next day we saw our pediatrician. Mid-July Thomas started to develop reflux. It got so bad that he was vomiting his entire bottle. I can’t explain the pain I felt watching him. He also started to lose weight. Our pediatrician scheduled Thomas for an Upper GI test the next day. The test showed that Thomas was aspirating but we didn’t know if it was primary or when he refluxed. So we were then scheduled for a swallow study for that Friday. On Wednesday, we saw the ophthalmologist who was very concerned about Thomas’ eyes and said Thomas wasn’t devoting his attention toward eye development that he was just trying to survive. I was crushed and felt completely helpless. I asked Buddy over and over that week, “What are we going to do?” All of these doctors keep telling us that Thomas just needs to grow, Thomas just needs to grow, but he keeps vomiting his feedings and even stopped eating because the reflux burned so bad. We had the swallow study done and Thomas aspirated EVERY TIME. The speech therapists said it was no longer safe for Thomas to eat by mouth. I was scared to death. He was immediately admitted to Children’s Hospital and received IV fluids. Buddy and I were nervous yet relieved… we believed we were on a better path to get Thomas the nutrition he needed to gain weight. The doctors believed it would be best for Thomas to get a g-tube put in. During his surgery, the ENT and audiologist were able to perform the hearing screenings again, which confirmed that Thomas had at least severe hearing loss, most likely profound.

A few weeks later we received the results from Thomas’ blood work that revealed that he did indeed have KID Syndrome. We weren’t surprised as many factors pointed to this rare condition. The results stated that most likely it was a spontaneous genetic mutation. We immediately started a “Heal Thomas” Campaign asking all of our family and friends to pray that God would completely heal Thomas here on Earth.

It wasn’t until mid-September that Thomas started to have major skin problems. The skin began to come off anywhere there was a skin fold – under his arms and neck, behind his knees, and especially in his diaper area. Those areas started to get very raw and even had discharge coming from them. We reached out to our pediatrician and wound care nurses and they had us try several topical treatments, but they didn’t work. The first weekend in October Thomas wasn’t himself. He cried all weekend, he started running a fever and his skin looked really red, even a little purplish. He had a follow-up appointment with the surgeon that put in his g-tube on Monday morning and as soon as he looked at Thomas he felt very confident he had an infection. The week before, Thomas had a swab of the raw skin areas tested at our dermatologist’s office so the surgeon followed-up with her and we discovered that Thomas had a pseudomonas skin infection. We were immediately admitted to the hospital and Thomas was started on IV antibiotics. The doctors also started him on IV fluids.

The next day, we were moved to the Special Care Unit (SCU), which is a step-down from ICU. Thomas had to receive his first blood transfusion (with several more to follow). His skin also began to swell from the IV fluids. It swelled so much that his skin cracked, peeled too soon and never recovered. Thomas’ diaper area worsened as the antibiotics gave him diarrhea. The wound care nurses and our dermatologist had us try several different creams but nothing worked. Our dermatologist had Thomas start a light therapy treatment to try to help improve his skin. We weren’t able to use it very long before Thomas became extremely sick.

We were admitted to the hospital on Ocober 6. There were several times we thought we were going to get to go home, but Thomas would get through about 10 days of a 14-day antibiotic and the bacteria would become resistant to it. He would then have to be put on a different 14-day antibiotic and the same thing would happen over and over again. We had so many ups and downs. One day we would receive bad news, and then the next day Thomas would be better. Our emotions were all over the place on top of receiving no sleep. We took care of Thomas while in the hospital and never left his side.

Towards the end of November, our doctors put Thomas on TPN (Total Parenteral Nutrition) to try to help with the diarrhea. We also started using a new ointment on his skin. We, along with the doctors, began noticing improvement, especially in his diaper area. We were all very hopeful and Buddy and I thought after almost two months we were finally going to be able to go home. During the night on Friday, November 28, Thomas scared us with a cough. It was only one time but enough to cause us to jump up and run check on him. The next evening, the doctors were doing a chest X-ray on him, and by Sunday, Thomas had to be put on oxygen. He never had to have oxygen before, even when he was born so small. We knew this must be a totally different issue from his skin. A Pediatric Intensive Care Unit (PICU) doctor came to observe Thomas Sunday evening and wanted to have him moved to the PICU right then, but said we could hold off for the time being. Our doctors performed several tests throughout the day on Monday. By Monday afternoon, Thomas was breathing over 90 breaths a minute. We were still allowed to keep him in the SCU. We also found out that evening that Thomas had his first blood infection, Candida (yeast). We were told during the day on Tuesday that Thomas had Coronavirus, which is a respiratory virus. By Wednesday, Thomas started to tire out. We were extremely worried. The PICU doctor came and observed Thomas again and said if we wanted to give him any chance to live, he was going to have to be intubated. We were completely devastated and worried. However, we were not going to give up, and we didn’t lose hope.

Thomas was moved to the PICU and placed on a ventilator. We had so many people praying for him. We knew it was going to take God completely healing Thomas; and we prayed that He would heal Thomas on Earth.

Thomas remained stable on Thursday. The situation didn’t look good, but he was stable. We were still so hopeful. Late that evening we found out he had a second blood infection, this time it was staph. That definitely brought us down, but we weren’t going to lose hope. Thomas did have thick skin on his head, but the rest of his body was becoming raw. Even his eye lids started to break apart and bleed. On Friday morning we woke up to the worst nightmare you could ever imagine. Thomas’ doctor informed us that he wasn’t going to make it. She said his chest X-ray was worse, and his blood gases kept getting worse and worse as well. The last thing you ever want to hear is that your baby is going to die. It’s the absolute worst feeling in the world, it’s gut wrenching. Actually, it’s a feeling that’s indescribable. I had physical pain I hurt so badly. Thomas passed away in my arms at 4:26 p.m. on Friday afternoon, December 5.

We had prayed for God to heal Thomas and that’s exactly what He did. We definitely wanted it to be here on Earth, but God had other plans and now Thomas will never endure pain or suffering ever again. Buddy and I are very strong in our faith and we have hope that we will see Thomas again one day. Thomas may have only lived six and a half months on Earth, but in his short little life, he touched so many lives. We miss him more than anything and can’t wait to be with him.

We will never understand KID Syndrome but we want to do everything we can to create awareness about it as well as Ichthyosis. Our thoughts and prayers are continuously with those who battle this condition every day."

If you need support after the death of your child, contact: SANDS, Bears of Hope, Sids and Kids, Heartfelt, The Stillbirth Foundation and Miracle Babies in Australia. Support for American parents can be found here. The Compassionate Friends support British parents.

May is Ichthyosis Awareness Month - I am sharing stories of people who have experienced Ichthyosis. Read all stories in the Ichthyosis Awareness Month Blog Project here. 

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