Stephanie Tosto, mother of Daniel “Danny” Jayden Alonzo, shares her son’s journey to a Cockayne Syndrome Type 2 diagnosis. Stephanie was born and raised in Germany but lives in Oregon with her family. She works as an assistant manager and personal trainer at a local athletic club.
by Stephanie Tosto, Guest Post
My Pregnancy With Danny
In 2019, I became pregnant with our precious boy Danny. He was born on October 24, 2019. Besides the typical first trimester of nausea, my pregnancy was great. I have been pregnant three times before and all of them were typical pregnancies. At one of my regular check-ups, the doctor noticed that I had placenta previa but otherwise everything seemed normal. At the 34 weeks ultrasound, as I inched closer to my due date, I wanted to know if the placenta previa had resolved itself. During the ultrasound, however, I noticed that the technician became real quiet and measured Danny’s head numerous times. I looked closer at the monitor and noticed that the head measurements suggested that I was only about 29 weeks pregnant. What?!
I became worried and left with an uneasy feeling. I will never forget this day because that was when we found out that there was something going on with Danny. We just didn’t know what. I went back to work after the appointment and straight into a meeting. The meeting was just about to start when my phone started ringing. It was my doctor and he told me that during the ultrasound they had found an arachnoid cyst behind Danny’s brain. He told me that I needed to call the specialty clinic to make an appointment right away to see how big the cyst is.
Crying, I felt like my heart stopped in that moment.
When we later met with the specialist, he also mentioned how small Danny was but at the same time laughed it off as neither Danny’s dad, my fiancé Nathan, nor I are of tall stature. He also explained to us what an arachnoid cyst is and what can be done IF it affects Danny in any way (they are not tumors or cancerous and may not cause any negative impact). I felt much more at ease after the appointment and continued to go in once a week for an ultrasound to measure the cyst to make sure it was not getting any larger. At this point we had no idea that soon, our world would be turned upside down.
Danny’s Birth
Danny was scheduled to be delivered via C-section because I had C-sections with my last two children. I remember when I was laying on the table in the operating room, I kept looking into my fiancé Nathan’s eyes, constantly praying that Danny would be ok. I know he was feeling the exact same way but of course he tried not to show it and remain strong for the both of us, well the three of us!
When I first heard Danny cry, I was so happy and I just wanted to see him so badly. Nathan went over to take a picture of him as they were getting his weight and measurements (17.5 inches and 5lbs 5oz). I heard someone talk to Nathan about Danny’s feet but to be honest at that moment I couldn’t really concentrate as I was just eager to see my son and give him a kiss. When I finally got to see Danny, his dad explained to me that Danny’s feet were atypically positioned (vertical talus) but not to worry as it could be corrected with surgery. Ok, yes not a problem, I thought. Surgery will fix it!
Once we finally made it to our room, we tried breastfeeding Danny right away. Danny was latching on without problem but would fall right back to sleep after only less than a minute. Again, I did not think anything of it as he had just gone through a lot making his way into this world.
The First Few Hours, Days, and Months
When we made it to our recovery room at the hospital, and as I held my sweet boy, all of my previous worry about the cyst went away. Plus, I had not even looked at his feet to see what the doctors were talking about. I was just happy. Unfortunately, the happiness quickly turned into fear and worry. Danny was barely two hours old when several doctors entered the room. I remember them inspecting Danny. Every inch, from head to toe! Watching it all, I became increasingly nervous. After checking Danny’s eyes, the pediatrician said that he couldn’t see his red reflex, which indicates that there may have been a blockage. Not only that, he was also worried because Danny hadn’t tried to open his eyes yet. I was also told that someone would come in to do an ultrasound on Danny’s heart.
I don’t know if I actually really understood at the time what was going on because I was so worried and scared and it all seemed like a dream.
The next day we were told that Danny’s heart looked good. Phew, what a relief. Then the nurse came in to pick up Danny for his hearing test. She came back a while later and told me that he had failed his hearing test. She also told me “not to worry” as this can happen sometimes and that they would do another test at a later time. I kept telling myself to keep it together but once Nathan entered the room, I lost it. I cried, and cried. Not knowing what was going on with my son and feeling absolutely helpless was one of the worst feelings I had ever experienced.
Once we made it home from the hospital, we had a few days to enjoy Danny. Just holding him, cuddling, snuggling and lots of kisses from all of us. One night and after Danny was only a little over a week old, we noticed that he felt very cold. I took his temperature and the thermometer read 97.2 degrees. I panicked and called the 24-hour nurses line. The nurse told me to call 911 and to make sure to lay Danny on my chest. By the time the ambulance arrived, his temperature was back up to normal. I didn’t know until a year later that this was all connected to his genetic syndrome.
The next couple of months we were constantly on the move and had several appointments a week with all kinds of specialists. The top three things on our agenda were getting another hearing test done, having Danny’s feet assessed, and his eyes examined. We found out that Danny had moderate to severe hearing loss, cataracts in both eyes, and that he needed to wear casts on his legs for the next six months due to vertical talus.
I have to be honest. I completely lost it. I wasn’t sure if I could handle it all. Not knowing if my son would ever be able to see me, or smile, or hear me, it was breaking my heart.
Danny received his first set of casts for his feet at the beginning of December 2019, his hearing aids in the middle of December and went through his cataract surgery a few days before Christmas of 2019. But six weeks later, I received my first smile from Danny and I’ll never forget how magical that moment felt.
The Financial Stress
To add to our stress, the doctor appointments, the surgery, and the hearing aids were all accompanied by big medical bills. Insurance only covered so much and we had no diagnosis for Danny yet so we did not qualify for any additional assistance other than Early Intervention Services for his hearing loss and delayed motor skills. I told my closest friends about my financial worries and they decided to help by planning a Bunco for Danny fundraising event. My local mom’s club matched all of the proceeds, and my company got involved as well. With everybody’s help and the kindness of all the participants and donors, we were able to cover Danny’s hospital bills. I will be forever thankful and without their help I am not sure where we would be financially today.
The Road to a Diagnosis
About a week before Danny’s first birthday and after an almost year-long struggle with Danny being unable to keep food down and gain weight, he received a feeding tube (a mini-button) via surgery. Not only did he receive his feeding tube but we were finally scheduled to meet with the geneticist as Danny had not hit any of his milestones. We had our virtual appointment in February 2021 and were pleased to hear that we would be able to get a PGxome – a Whole Exome Sequencing genetics test done. The test kit arrived in March and after we swabbed our cheeks and provided our DNA samples, we sent it back to the lab. We received the results in May 2021.
I must admit, when I first received the results via MyChart, the online patient portal, I couldn’t help but rush to look at them. I didn’t wait for the genetics specialist to call me to go over the results. There I was looking at the test results, with no idea of what they meant. I saw that they had found in all three of us – me, Nathan, and Danny - something called ERCC6, which was mutated! I turned to Google to find out what ERCC6 means, and what mutations in ERCC6 can cause.
Cockayne Syndrome, I learned! Mutations in gene ERCC6 cause a disease called Cockayne Syndrome.
What is Cockayne Syndrome, I thought? I googled the disease. I found a website with the address cockaynesyndrome.org and another one: amyandfriends.org. When I downloaded the brochure from the first website and looked at it, I immediately knew that the genetic test result was not wrong. Reading the brochure and seeing the pictures of all the beautiful children, I knew my son Danny had Cockayne Syndrome. I felt an immediate relief knowing his diagnosis but as I kept reading about the different types of Cockayne Syndrome, my heart sank. I didn’t want to say it out loud. I didn’t want to believe it. I wanted to wait and hear what the genetics specialist had to say. We had to wait a couple of weeks until we were able to talk about the results with the specialist and it was then he confirmed my biggest fear. Danny has Cockayne Syndrome Type 2, which is the most severe type of the syndrome.
Cockayne Syndrome Type 2! With a life expectancy of 5-7 years! Our child? NO!! Our world was falling apart at that very moment. How do we tell the kids? The family? We had to take time off of work because we were having a very hard time. Our employers were and still are very understanding and supportive and we are very grateful for this.
Once we got Danny’s diagnosis, we applied for disability benefits. We were denied. We applied for Medicare/Medicaid. We were denied again. It was extremely frustrating as we needed all of the help we could get, having to take time off of work for all of his doctor’s appointments and needing to pay for all of his medical equipment. We are still making payments today. We were finally approved for both disability benefits in May 2022 and the Oregon Health Plan in July 2022.
The Future and Advice to Other Families
Danny, who is now almost 3 years-old, brightens our lives every day. He is such a happy boy. He loves, absolutely loves, his siblings. When he hears their voices, he has the biggest smile. Danny may not be able to talk (he is non-verbal) but he has his own way of communicating with us. He claps his hands when he wants us to sing patty cake and he loves toys that have lights and make sounds and play music.
Being a parent of a special needs child is hard but it also helps you to become a stronger person.
I think one of the important things to remember about being a parent to a special needs child is that you are not alone. It’s important to reach out and to cry or just vent! I am so thankful that I found Cockayne Syndrome support groups (Amy and Friends, and Share and Care on Facebook) shortly after we received Danny’s diagnosis. I can ask any question to other Cockayne Syndrome parents and families or I can just tell everyone that I am having a bad day and they are there with words of love and support. The other advice I have for other parents in our situation: while you may read that your child may never do a certain thing such as sitting or walking because of their diagnosis, don’t ever give up trying. With the help of physical therapy, Danny can now sit up independently for at least five minutes!
My hope for the future for Danny and all children like him is that there will be a gene therapy to help extend their lives and give them more developmental opportunities.
A Video of Danny Through the Years, Made by Stephanie Tosto
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To donate to Riaan Research Initiative and support our work to find treatments for children with Cockayne Syndrome, please visit riaanresearch.org/donate.