For those that may be reading my blog for the first time, I wanted to say welcome. For today’s post, I am doing something a little different. I tend to get a lot of the same questions regarding our son Leo who was born with a rare disease called Sturge-Weber Syndrome that presents itself with a vascular birthmark called port wine stain. I thought it would be nice to put together a post answering the most frequently asked questions. So here we go…
1. What are the chances of having another baby with the same condition? Feelings on that?
I want to first say that while I was pregnant with Leo there were no signs that Leo had any medical issues. Our ultrasounds were always normal and I had a very healthy pregnancy. Once Leo was born we noticed immediately his large port wine stain that covered half of his little face. Our doctors weren’t sure if it was a bruise or a large birthmark. My husband, Paolo, started to look into the birthmark and found, port wine stain. Port wine stain occurs in an estimated 3 children per 1,000. After being in the hospital for a few days, my husband did more research on port wine stain and learned a lot of times those with a facial port wine stain also have a condition called Sturge-Weber Syndrome, a condition that affects the development of certain blood vessels, causing abnormalities in the brain, skin and eyes from birth. This happens in about 1 in every 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. So to answer this question, our chances of having another baby with the same condition would be like winning the mega million lottery twice. Honestly this at times has caused me to worry, but the odds are in our favor. Then I think about how it doesn’t have to be Sturge-Weber Syndrome because it could be something else. Any health concern, really. I think that is a normal fear most parents have, right? However, that doesn’t mean that God wouldn’t allow this to happen. God knows what’s best and He is sovereign. I just have to trust God and know that He is in control.
2. How did you find Dr. Comi?
Once we got home from the hospital we had a lot of phone calls to make. We needed to find a few specialists for Leo. Paolo had done most of the research while we were in the hospital and had found many of the specialists locally. Paolo immediately posted a photo of Leo on the Facebook support group page, Birthmark Treatment Support: Port Wine Stain. We needed guidance and we needed support. Thankfully he found the group and we were then guided by hundreds of other families who were walking the same path. Paolo wanted to know who the BEST OF THE BEST was. He wanted to make sure our son was going to be taken care of. This was when we learned about Dr. Anne Comi, MD. She is the Director of, Hunter Nelson Sturge-Weber Center at Kennedy Krieger Institute. Dr. Comi is a neurologist who also discovered the Sturge-Weber gene. We made a phone call appointment with her and knew we were going to be in the best hands.
3. When did Leo get his first MRI?
Once we began our virtual relationship with Dr. Comi, we were advised to seek out a dermatologist, ophthalmologist and a local neurologist. Thankfully our dermatologist was very familiar with port wine stain and we started treatment when Leo was just five days old. We then found an amazing ophthalmologist who treated a lot of patients with Sturge-Weber. It took us a while to find a neurologist due to insurance reasons but finally found a team that was willing to do pre-symptomatic treatment, if needed, and would also follow along with Dr. Comi’s instructions. Dr. Comi suggested we get an MRI for Leo after he turned three months old to see if there was any brain involvement. She was confident he had it due to the placement of Leo’s port wine stain. We scheduled his MRI under sedation with and without contrast. A few different neurologists looked at Leo’s scans and did NOT see any brain involvement. However, Dr. Comi told us that even to the trained eye one might not see it. Dr. Comi, being the expert, looked at Leo’s MRI scans and told us the news that Leo in fact does have brain involvement. In her literature she suggests that children with brain involvement start on medication immediately, even before symptoms start. We made the decision to put Leo on pre-symptomatic medication.
4. How do you administer Leo’s medication?
Leo has been on an anti-seizure medication (trileptal) paired with baby aspirin since he was about four months old. This combination has been effective for many children with minor side effects. He is on a low dose of both and they are in a liquid form that we give to him twice a day. This can be a challenge so we have learned to give him his medication mixed with some of his milk. I will put a little milk in his bottle along with his medication and then have more milk ready to put in the bottle once he finishes the one with meds. That way I know he gets it. I also give him the medication when I know he is really ready for his milk. Since Leo also has glaucoma, he is on eye drops twice a day to help bring down his eye pressure. Administering eye drops to a busy baby can be challenging. I usually do this at the same time I am giving Leo his morning bottle/medication. I lay him on the changing table and give him his milk so his hands are not able to push me away. Then I quickly give him the drop and he usually doesn't even move because he’s too busy eating. Thankfully this has been successful so far.
5. How many laser treatments will he need and why stop now?
This is probably the most common question I get about Leo. Since visually this is what we see, I think it’s more of a common curiosity. The hard part with port wine stain is it varies from person to person and you are going to get a lot of different professional opinions. Port wine stain is a vascular birthmark caused by a vascular anomaly (a capillary malformation in the skin). We were told treatment starts the moment you leave the hospital; treatment, meaning laser! There are a few dermatologists who specialize in port wine stain. We were fortunate to have one right where we live. After the first laser treatment at just five days old we could already see the improvement on Leo’s skin. Our dermatologist does not do this under sedation; Leo is fully awake and it lasts about 60 seconds. They place an eye shield to protect his eyes and swaddle him to help to keep him still. I don’t stay in the room because it’s too hard for me to watch so I am always ready outside the room to take care of him after his treatment. Thankfully Leo is not in any pain after the procedure. Those little bruises do not hurt him. In fact, by the time we are home Leo is laughing and wrestling with his older brother. It’s amazing how children are so resilient. So back to the question, unfortunately there really isn’t an answer to the question due to the fact that everyone reacts differently to treatment. Most likely Leo will need “maintenance” laser treatments all his life. We go every two-three weeks currently and he has had a total of 21 treatments. We have said we will keep doing therapy until we don’t see results or till he starts to recognize when we go and seeing that it’s too difficult for him. Since birth Leo’s port wine stain has faded so much due to all his treatments. I am always encouraged when we go and know this is for his good. He will not remember this and now is the time to treat.
6. What has been the hardest aspect of port wine stain and Sturge-Weber Syndrome for you and your family?
I have a recent post on my depression I went through after Leo was born and how by the grace of God I was able to get out of and see this all as a blessing and how I found the joy in this. It’s called, Saved by Grace. I encourage you to read it. But I basically talked about how overwhelmed I was with all the initial doctor appointments we had for Leo and the unknown this disease brings. Sturge-Weber Syndrome is progressive and we have to be on the lookout for signs. We see a neurologist every few months to make sure Leo is meeting all of his milestones, and thankfully he’s thriving and we haven’t had any setbacks. We continue to look out for side effects of his medication. It would be easy to overwhelm yourself. We really try and not focus on our future scares but rather focus on the here and now. That was where I was struggling in the beginning. I was so worried about what could happen or what might happen to Leo that it was taking away from my God-given, daily responsibilities.
7. Do you plan on putting Leo in public school when the time comes?
We have talked about putting both of our kids in preschool when the time comes but we aren’t sure if we are going to do private, homeschool or public school in the future. This has nothing to due with Leo. This has everything to do with our children’s education and what will be best for them. Either way my prayer has been that Leo will be confident in who he is and how God made him. Being his mother, I know this is a biased statement, BUT Leo is a good looking boy and he wears his birthmark well. We always say he looks like a mighty warrior from the movie, Braveheart. By the time Leo is in school we will most likely be finished with laser treatments so I won’t have to explain the angel kisses or dots. I am so used to explaining them now and I actually think I might miss it?
8. How do you stay strong through all this?
By the grace of God. This is a truthful answer and I hope you know it’s sincere. Don’t get me wrong, I struggled so much in the beginning and some days I still struggle. But I know God asks us to give Him our problems. Talk to him, pray and ask Him to help you. I have to do this daily. If I don't, then I could easily spiral and get to a dark place. I have referred to this Bible verse often, but it’s worth repeating, “Do not be anxious about anything, but in everything, with prayer and petition, with thanksgiving, present your requests to the Lord.” Phil 4:6. We may not understand God’s timing or why he allows certain things to happen, but we can be assured He will be there with us along the way. It’s God-given strength!