Strength, Courage, Blessings, Love.....These are the four words running through my mind as I type Leo's Story today. Leo is so very strong and courageous. We are blessed beyond measure to have him in our lives, and we fiercely LOVE Denis, Anne, Joseph and Leo with all our hearts. This site is dedicated to our handsome Leo the Lion-heart, and his battle against Pompe Disease.
Almost two weeks ago Anne and Denis began a journey with Leo that no one could have ever imagined. Leo was having some low tone issues and had been meeting with a physical therapist. This physical therapist had the courage to speak up when there were signs that something else may be going on...this is where the story begins. Two weeks ago Leo was taken to the pediatrician for a weight check and to discuss the physical therapists concerns. From there they were sent to Children's Hospital for labs to be drawn with the intent to have a neurology appointment set up for the following week. Anne had a neurology appointment set for Tuesday morning, 9/13/16. When they arrived at the appointment, the Physician Assistant who saw them was immediately concerned with Leo's breathing and it was decided that he needed to be admitted to Gillette Hospital that day. Upon arrival at Gillette Hospital in St. Paul, an astute pediatrician requested an ECHO (sonogram of the heart) to look at Leo's heart function, because he too was concerned with his breathing. The ECHO showed that Leo had HCM (Hypertrophic cardiomyopathy- thickening of the heart muscle) and his heart was very enlarged. Leo was immediately transferred over to Children's Hospital-Minneapolis Campus to be cared for in their cardiovascular specialty unit. At this time the physicians began to discuss the possibility of this being Pompe Disease. At the same time Leo's blood was being tested at Duke University, and the genetics doctor working with Leo is one of the leading doctors in the field of Pompe Disease. Leo needed to stay in the hospital while the testing was being done, because at this point his heart is very weak. The tests came back on 9/20/2016 showing Pompe Disease. Pompe disease, according to the National Institutes Of Health, is an inherited disorder that is caused by the build-up of glycogen (complex sugar) in the body's cells. When glycogen accumulates in certain organs and tissues (muscles) it impairs their ability to function normally. At this time Leo has the classic form of infantile-onset. He has experienced muscle weakness (myopathy), poor muscle tone (hypotonia), and an enlarged liver (hepatomegaly) along with the HCM.
With a final diagnosis, Leo went into surgery on 9/21/2016 and had a Port-a-cath (central IV line) placed, a G-tube and a J-tube placed (both feeding tubes). Leo's left lung has had difficulty staying inflated due to the his heart being enlarged and he is struggling with getting his secretions out. They chose to have Leo stay intubated (a machine breathing for him) so that they could watch him carefully as they started treating him. Part of having Pompe disease is knowing if the patient is CRIM positive or CRIM negative. This is important information, becasue it affects how well a patient may respond to the special enzyme treatment used to treat Pompe disease. Generally, CRIM positive patients respond better to the treatment. Leo's blood is still being tested for that at the time so prior to starting the enzyme therapy he started a regime of medications to help suppress his body's ability to fight against the enzyme treatment. This regimen of medications is directed by a pediatric oncologist, because they are using chemotherapy and other agents. Leo began the this part of the treatment on 9/22/2016. Leo is still in critical care throughout this process to keep him as safe as possible.
Friday, 9/23/2016, ENZYME THERAPY day! Leo has received his first dose of enzyme therapy and this will be the first of many for him. This therapy will be given once every 2 weeks for the rest of his life. The chemotherapy regimen will stop if it is found that he is CRIM positive.
Anne and Denis are staying strong throughout this journey. Joseph is enjoying his time with mom, dad, grandparents, cousins and school. We are in awe of the care Leo is receiving and are so very blessed that he has the team he does. This is a very rare disease and the doctors who have worked on the research for this disease are here in the Twin Cities,
This is the second major even Anne and Denis and their family. This summer their house burned down and they are in the process of rebuilding and now their time is dedicated solely to Leo and Joseph. A Go Fund Me site has been started by their friends and we will be starting a meal calendar as well. Here is the Go Fund Me site is https://www.gofundme.com/babyleostmartin?ssid=749083549&pos=1
and we will use the Caring Bridge site to facilitate meals.
Please keep Leo, Joseph, Anne and Denis close in your prayers and intentions, and visit the site often to leave your messages of love.