Laying on the operating table after my C-section I heard, “Wow! He’s got a big birthmark on his face.” I didn’t think much of it until I saw it, and honestly I too was a little shocked. A bright reddish-purple color covered more than half of my newborn son’s face! My second son, Leonardo Joshua Poidmore was born on October 18th, 2018 weighing 8lbs 2oz. As doctors and nurses came in and out of the room, I fed my sweet son for the first time, who to me was perfect. But quickly thoughts began to run rampant in my mind. Will this birthmark fade? Will it get worse? What will other people think? Can this lead to other health issues? Once we were able to see the pediatrician we heard the acronym, PWS, which stands for port wine stain. PWS is a vascular birthmark that can lead to some greater health issues down the road if not treated. One out of every thousand children are born with this rare feature, and about 5 percent of those children will have further health issues as part of a syndrome that present with PWS. In our case, we were quickly informed that due to the particular location of Leo’s PWS he has a much higher chance of larger complications, specifically optic & neural. Soon we would learn that our son Leo has a rare disease called Sturge-Weber Syndrome.
“As he went along, he saw a man blind from birth. His disciples asked him, “Rabbi, who sinned, this man or his parents, that he was born blind?”
“Neither this man nor his parents sinned,” said Jesus, “but this happened so that the works of God might be displayed in him.”
This was the verse my husband said to me as we continued to learn more about Leo’s complications. As parents we want to protect our babies from everything; protect them from getting hurt. Was this our fault? Why is this happening to our family? Is he in pain? Looking back now, those first months of Leo’s life I was living in fear. I was consumed by anxiety, exhaustion and confusion. I knew then and there that I couldn't do this alone. Nothing about Leo’s condition was going to be easy for us, nor will it be easy for him. However, we often forget that ultimately God is in control! God is our protector and good or bad, he has a special plan for my sweet boy.
As our journey would continue with Leo over the next few months, God ensured that we would be given the support and resources we would need to continue to trust in His plan. It began with sharing our story on our social media outlets. Support rushed in, Facebook groups, references, prayers, and resources! We began to find answers to questions that kept us awake at night.
Our son Leo was born with a rare disease called Sturge-Weber Syndrome (SWS); which often presents with a vascular birthmark (port wine stain), eye (glaucoma) and brain (seizures) involvement. This affects about every 1 in every 20-50,000 births. Since Sturge-Weber Syndrome is a gene mutation and is not inherited, it occurs by chance in cells of the developing embryo. This would be undetectable on an ultrasound. We learned that we needed to act quickly since Sturge-Weber Syndrome is such a progressive disease. So when Leo was only five days old, we began meeting with specialists.
During that first week my husband spent most of his time on the phone with specialists and our dreaded insurance company. We had to change our insurance provider once we learned the extent of Leo’s disease and the care that would be needed. As I mentioned, port wine stain is caused by an increase in capillaries under the skin. Sometimes these extra capillaries are found on the eye and/or the brain as well. When they are they can cause infantile glaucoma and seizures. So after the dermatologist our next step was to take Leo to meet with an infantile glaucoma surgeon to see if Leo had glaucoma and if he would need surgery. Since the port wine stain covers Leo’s left eye, we knew he had a higher chance of having glaucoma. Thankfully Leo’s ophthalmologist, Dr. Brandt, was highly recommended within our support group so once again we felt like Leo was in the best care. Sure enough, Leo’s eye pressure was in the 30’s which is extremely high and were told he’d need surgery to help relieve that pressure. Leo was only a few months old at the time, so we had to wait till he was a little older before we could put him under anesthesia for his surgery.
Then from my husband’s research, we discovered Dr. Comi, a neurologist who discovered the SWS gene and has become a huge blessing to our son Leo and our journey. Unfortunately, she works at the John Hopkins Hospital in Baltimore so we had to establish a virtual relationship with her. However, she guided us and told us exactly what to do and what to ask. Dr. Comi advised us to have a few EEG’s done locally on Leo while he is little to see if there is any abnormal activity. Dr. Comi also told us that the most important thing is to catch the brain involvement early; so she wanted us to get an MRI done once he turned three months old. Leo’s EEGs came back pretty normal; we were relieved and now we were anxious to see what the MRI was going to show.
Once Leo turned three months old we were ready for him to have his glaucoma surgery and then his MRI, both requiring anesthesia. By this time I was getting used to going to doctor appointments so admitting him into the hospital for his first surgery was a little easier, but still broke my sensitive mommy heart. Prayers were answered and Leo’s eye surgery went well.
Soon after Leo’s eye surgery we came back to the hospital for Leo’s first MRI. Dr. Comi gave the radiologist specific instructions on exactly what she needed in order to see if there were any lesions on Leo’s brain. During this time we were so anxious and felt like all we could do was pray. A few weeks went by and we received a phone call from Dr. Comi with the results. She informed us that Leo did have brain involvement. She said it was minor but due to his young age she suspected it would be much more significant with time. With SWS children there can be such a huge variation in outcome, from normal development to severe mental and physical disabilities. 75% of kids with brain involvement will have a seizure before age 1 and 90% before age 2. According to the research, the younger the onset and the higher the frequency of seizures often the higher the chances of cognitive and motor impairment. For all we knew Leo had not had any seizures but now we knew his chances were pretty high. Dr. Comi believes (although she states this is all empirical as the studies are in early stages) that controlling seizures and blood flow early gives the best prognosis. She recommended we start low dose aspirin and seizure meds immediately (which come with their own set of risks) even though Leo had never had a seizure. The conventional treatment was to wait until seizures begin to start medication. However, Dr. Comi’s research was showing that children she started on presymptomatic low dosage anti-seizure medication and aspirin were having a much better prognosis. After much discussion and prayer we decided that we fully trusted Dr. Comi and that we would follow her advice even though it was based on preliminary research. We started Leo on baby aspirin and an anti-seizure medication (trileptal). It’s an extremely low dose that we give him twice a day. Leo will be on these meds for a few years and hopefully we can taper him off if he shows no signs of seizures.
I think to myself at times, most mother’s find themselves wandering the cereal aisle at the grocery store, debating which cereal might be best for their child. Never did I think I would have to consider what anti-seizure medication would best keep my child thriving. God’s plan is sometimes not the one we have envisioned for ourselves, but when we allow ourselves to trust in His plan, miraculous and wonderful things can happen. We know that God’s plans for Leo may differ from ours but we also know that no matter what God is right there with us and we trust Him.
Where are we today you ask? Well Leo is now almost 15 months old, seizure free and meeting all of his developmental milestones. We’ve had to keep a close eye on him throughout these pivotal early months. We just had another MRI to see the full extent of the brain involvement and after Dr. Comi reviewed Leo’s images she called to let us know the brain involvement is more pronounced. This is kind of what we expected honestly, but now at 1 years old we know the full extent. Dr. Comi explained it involves his occipital and temporal lobes on his left side only. Generally the less lobes involved the more favorable the outcome and definitely better that it’s only on one side. She then told us it’s also good that it’s only on one side. She then told us it’s also good that he doesn’t have frontal lobe involvement as that correlates higher with developmental impairment. However, being that he has it on his temporal lobe he is at high risk of seizures. Our plan is to continue him on his same medications and adjust the dosage as he grows. Unless Leo has a seizure or developmental delays we will reevaluate when he’s about 5 years old. Leo continues to get his eye pressure checked and most likely will have another surgery in the spring. For now he is on eye drops to keep his pressure down. Leo has had a total of 28 laser treatments and we will be stopping for a while now since we seem to have hit a plateau with the birthmark lightening, plus it’ll just be nice for our strong boy to have a break. However, he’ll probably need maintenance laser treatments throughout his life.
We have been so blessed with our sweet boy and he is so strong. We call him “Leo the lion” for a reason. I want to proclaim that all glory goes to God. Jesus said, “this happened so that the works of God might be displayed in him.” Leo has been a warrior through all of this and God has placed a special spirit inside him and placed a mark on his face so that Leo will always be able to tell his story and share his faith with the world.