Luke's Unexpected Journey

Luke was born a happy "healthy" little boy on June 28th, 2019. I had an uneventful pregnancy and delivery. He had wonderful scores and we were sent on our merry way. Luke struggled to meet his milestones starting at 7 months. There was little concern from his pediatrician and he was happy and ate well. With a little help, he gained some core strength and could sit up. Around 12 months he was still army crawling and could not stand. I found this odd but I was assured he was just fine. Maybe he was just "lazy". As the months went on with little progress I started to look into other referrals. Luke was not walking or saying any words at 16 months. I was again reassured that there was no reason for concern until he was 18 months.

Well at 18 months, I was past concerned. I had reached out to First Steps, Missouri's Early Childhood Intervention program. Everyone should know that every state has one and everyone is entitled to an evaluation without a doctors referral. Even at 18 months I was told there was no concern by his pediatrician. I set up an appointment with First Steps. I was more concerned with his physical delay than the speech. A physical therapist through First Steps immediately identified that Luke had low muscle tone. He drooled constantly, would climb but then lean on everything, he didn't chew on food either. That physical therapist was the leader in helping me set out on finding a diagnosis and I am forever grateful to her and Luke's First steps team. They will always have a special place in our hearts. They were amazing providers, they cared about my family and Luke and they have been a huge influence in his success.

Luke was evaluated by First Steps for physical therapy, speech, and occupational therapy. He qualified for his delay in his speech and developmental delay but received therapy for all three. Luke received services 4 days a week from 18 months old until his 3rd birthday. He started walking at 20 months. He did not speak until after his 2nd birthday. He said "mama" and it is still his favorite word.

Our new pediatrician immediately recommended we see a geneticist. We were told it would take 5 months to get results back. In a short 5 weeks we got a call on October 7, 2021. Luke had a one letter deletion that caused a very important gene, shank3, on chromosome 22 to not function. It is highly prevalent in the brain, heart, and kidneys. I was told he will most likely not speak, he will most likely not develop mentally past the level of a second grader, he will most likely never be able to live on his own. Our world crumbled beneath us. I will say, that when I was told he had hypotonia, I was devastated. If you google "hypotonia" absolutely nothing good will come up. I thought the worst, but even what I thought I was thinking, I did not for one second think that this would be the diagnosis. How could this be his life? How could this be his future? This isn't fair, it's not fair for him, for me, for our family.

There was little time to stay in that mind set, although, I think it every single day. I contacted the Phelan-McDermid Syndrome Foundation. Someone called me immediately, they put me in contact with families, resources, and a geneticist within the foundation to explain more of Luke's results with me. Shank3 is a scaffolding protein in the brain and is responsible for the connections in your brain staying strong. Without it, the connections become brittle and it is hard to learn, move, and advance. It is a very important gene. The foundation was a lifeline I didn't know I needed, they continue to be a wonderful resource. I am a co-rep for the foundation in the state of Missouri now.

Luke started school at Barfield Early Childhood Center in August of 2022, and there you will find another group of amazing humans who have helped keep this little boy moving forward. I love all of them and I am so grateful for Wentzville school district and all of Luke's teachers and therapists.

Luke has been in 2 studies now for Phelan-McDermid Syndrome. We went to Boston Children Hospital for a natural history study. They are evaluating Luke's behaviors and comparing them to his genetic deletion, it is a 3 year study. The hope is that if enough people do this study we can start to find connections between phenotype and genotype. Then, when new patients get diagnosed we will have a slight better idea what to expect. Right now there are so few people with the syndrome and there are so very many different forms, every child/person is different. With this diagnosis, you get more questions than answers. The treatment is supportive therapy.

We also have been going to the Seaver Autism Center in New York City at Mount Sinia Hospital since last October. Luke is receiving an experimental drug in the hopes that it will hopefully help him with his struggles. I am grateful for every doctor, therapist and coordinator there. Luke doesn't love all of the testing he has to go through, but he is happy kid and takes it all like a champ.

Luke has already been through so much in his life. Mentally he is at about a 2 year old in age. He runs now, he speaks in short sentences (I was told that would never happen), he loves to play games, he is a snuggle bug and a mamas boy. He loves his brother and he loves to annoy him. He knows who his family and friends are, and he gets very excited when he sees them.

I am not sure what Luke's future holds. I do know that what I once wished for him has changed drastically and it continues to change as he improves and we learn more. He is now in school 4 days a week and in therapy 3 days a week and he is making wonderful progress. I hope he can effectively communicate with us eventually. I hope one day he can tell me how his day was. If I'm really praying, I am hoping he can eventually take care of himself.

I don't love thinking about the future. He has taught me more than anything to live for today. If he will be a happy snuggle baby right now, we better enjoy it. He will go through struggles his entire life, I pray he never realizes it, I pray he never feels left out or less than. I pray he always has me and his dad to take care of him. That is all the prayers I can get out for now.

Thank you all for following our journey, I think that gets you all caught up on the past 2 years. It is certainly not how I thought it would be, but I thank God for Luke everyday and for the support that we have received.

Lots of Love,

Courtney