Soren’s Light Life With Lissencephaly

To know Soren is to LOVE Soren! Ever since he was a brand new baby people have naturally been drawn to him. His big sweet smile, his contagious laugh, Soren Is Light and always has been!

Soren was born at 40 weeks, he was much smaller than his big siblings were at birth, but he was healthy and we figured he would quickly chunk up like his siblings. As time went on we noticed that Soren was not meeting milestones, at 6 months I started to become concerned about the fact that he was still not rolling or begging to sit up, which started the process of finding answers and getting him the help that he needed.

I self referred to our local regional center, who started the process of getting assessments and beginning different therapies. Over the summer he was diagnosed with global developmental delay, and was referred to physical and speech therapy. At his one year checkup in November 2023 I expressed my concerns and asked for a referral to both neurology and genetics at UCSF.

We saw neurology at the beginning of December, and his neurologist immediately said she wanted him to have an MRI based on his symptoms. This was obviously terrifying, as they have to sedate your baby to keep them still, but I knew we needed answers so that we could make sure he was getting all of services and support that he needed. Right before Christmas we went back down to UCSF for his MRI, he did amazing during and had no issues with the sedation which I was so thankful for because it felt like the longest hour of my life between watching them sedate my baby and finally hearing he was in recovery.

I requested a CD with the images from the MRI which they gave me as we left the hospital, and immediately went back to the Family House where we have been staying during these trips, and put the CD into one of their computers look at the images. As I flipped through the images my heart sank because I could immediately tell something was off.

The wait between that MRI and finally speaking to neurology about the results felt like the longest five days of my life. It was right before Christmas, so I knew things were moving slower, but I refused to go into the holiday weekend without having some kind of answers. His regular neurologist was out for the holiday and I insisted I needed the mri results and to speak to SOMEONE before the holiday weekend hit so they found an amazing neurologist who was willing to do a video appointment with me to go over Soren’s results. When the neurologist said the word lissencephaly the world felt like it stopped spinning. Lissencephaly came up in my own research, but I didn’t want to believe this could be his diagnosis.

If you do a quick google search for lissencephaly you’ll get a lot of doom and gloom, short life expectancy, terminal, etc… This was earth shattering. I spent several days in a dark place, but I made the active decision that I wouldn’t sit in that place. That I would do everything that I could to make sure Soren got EVERYTHING he needed to reach every milestone he can, and that I would make sure every single day was one full of joy, love, and happiness!

If you’ve had the pleasure of meeting Soren you know he RADIATES joy! His smile lights up the room, and he steals the hearts of every one he meets! Soren was born for a reason, his LIGHT will forever shine. I was meant to be his mom, anyone who knows me knows that I take pride in my advocacy and always have been extremely outspoken about things that I am passionate about. Soren’s diagnosis has reignited a flame inside of me to use my voice to not only help my boy reach his full potential, but to help spread awareness on this extremely rare disease that has become such a huge part of our lives.

You may be wondering; what is lissencephaly?

Lissencephaly (pronounced li-suhn-SEH-fuh-lee), which means “smooth brain,” is a spectrum of severe and rare brain malformations (abnormally shaped) that affects developing fetuses. Gyri are the folds or bumps in your brain, and sulci are the indentations or grooves. In lissencephaly, the lack of normal development of brain gyri and sulci makes an affected baby’s brain appear smooth.

Gyri and sulci are important because they separate brain regions and increase your brain's surface area and cognitive ability.

There are more than 20 types of lissencephaly. Most of them are separated into two main categories: classic lissencephaly (Type 1) and cobblestone lissencephaly (Type 2). Each category shares similar symptoms but different genetic mutations.

Lissencephaly can occur on its own (isolated lissencephaly) or as part of certain syndromes, such as Miller-Dieker syndrome and Walker-Warburg syndrome.

Children with lissencephaly often have significant developmental delays and mental disability, but these vary from child to child depending on the severity of the condition. Lissencephaly is rare. Researchers estimate that lissencephaly affects about 1 out of every 100,000 babies. There’s no cure or main treatment for lissencephaly. Instead, healthcare providers target treatment toward the specific symptoms that each child with lissencephaly has. The life expectancy of lissencephaly is generally short. Many children with the condition die before they reach 10 years of age. The most common cause of death among people with lissencephaly is aspiration (breathing in a foreign object, such as sucking food into your airway) and respiratory disease.

One of the most important things for individuals with lissencephaly is therapy, and although Soren receives daily therapy from me and weekly therapy (PT 1x time a week, OT 1/2x a week, and speech 1x a week) he would benefit so greatly from a therapy intensive. This means travel expenses, expenses for lodging , and the cost of the intensive. The intensive therapy itself is not covered by insurance and ranges in cost depending on the length of the intensive, but is upwards of $8,400 for a 3 week intensive just for the therapy itself.

My number one goal for 2024 is to save the money needed to get Soren into an intensive with the NAPA center. I have some fundraising in the works, so be on the lookout for updates, but I also thought a gofundme would be a good way to help raise some of the money we need to reach this goal, as well as helping with other out of pocket expenses that come along with raising a child who is medically complex like Soren.

At the moment we are gearing up for our seventh trip to UCSF since December, and Soren’s first hospital stay to place a g-tube to help him gain weight and supplement his nutrition as he was recently diagnosed with dysphasia (difficulty swallowing), and with an increased risk of aspiration we want to be proactive with making sure he can be safely fed.

Thank you to everyone who loves Soren, and supports us through every step of this journey!