Our family has been greatly affected by CMT4J. We have two sons who received this diagnosis in December 2016. One older, and our young son Danny, who loves music and especially the Beatles, is an amazing nine-year-old young man. He had a relatively normal childhood and met all his developmental milestones as an infant. As he grew through his toddler years we noticed he had some balance issues, he would trip and fall quite frequently. He would also complain of pain in his legs, feet and hands.
In the spring of 2016 he took a bad fall in which he bumped his head on a pole. After taking him to the pediatrician, they ran a series of balance tests on him and he was not able to stand on one foot, stand up in his toes, or hop on one foot. The pediatrician decided to refer him to a neurologist.
After running more tests on Danny they decided to order genetic testing. In December 2016 we received the results, which was CMT4J. The doctors told us that there was no cure for this extremely rare progressive condition. They also told us that Danny could eventually lose his ability to walk and write. Since the diagnosis he has struggled with walking long distances, and has developed some decrease in lung functions. He has also had more frequent falling episodes, increased pain in his body and really struggles with fatigue. However he is such a sweet, loving and happy boy! He has such a positive, can do attitude, which makes us proud parents.
Last summer this persistence paid off. Danny’s elementary school was holding an outdoor event which included a giant bounce house with a slide. Danny tried six times to climb up to the top and fell off each time. After that I asked him if he wanted to get off and he said, “No Mom, I can do this”. He proceeded to take his socks off and climbed up to the top of the slide. The smile on his face as he slid down the other side was incredible. His favorite Bible verse is Philippians 4:13 which says, “I can do all things through Christ who gives me strength”. We are so proud of all he accomplishes on a daily basis.
It is becoming increasingly difficult with every neurological appointment. It’s hard to see the disease affecting his body and him slowly losing his muscle strength, it’s heartbreaking in one so young! We are so grateful to Jocelyn and the CureCMT4J family for the opportunity to share Danny’s story. We are also very excited about the upcoming clinical trial for CMT4J. We are very hopeful that the money raised will help lead to a cure for this dreadful disease.
Thank you for your loving support of our sweet son Danny. We are so incredibly blessed to be his parents! He loves to share his story with everyone he meets. He feels that if they know they will be more understanding and helpful. We pray continuously for a cure to this awful condition so that our sons and other children affected can live a better life without all the pain and physical issues. On behalf of my husband, Danny’s father and our family, thank you!
Karen West
March, 2019
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