Helping A Child With A Very Rare Disease
This is something I've never done on this web site. I am going to ask you, my readers, to help out a brave young man who is suffering from a very rare genetic disease known as Chromosome 4q Deletion. You've probably never heard of it. Most people in the medical field have never heard of it because it is so rare. Nonetheless, it is a real disease with very real consequences that effects children. I've known Mario's father for over 20 years. He has always been the type of person that doesn't ask of himself and is willing to help others. I know that he and his wife are doing everything they can to help their son. I'm writing this so that you might find it in your hearts to do the same for his family. Here are the details of Mario Novello, age two, from Northeast Ohio.
Mario was born to Derek and Lynn Novello in 2008. When he was five months old, he was diagnosed with chromosome 4q deletion (Q4D). This disease leaves him with an entire host of problems that leave his parents very worried about him on a daily basis. He needs frequent abdominal ultrasounds and blood work to screen for signs of tumors in his body. Early detection of these can improve his survival. Right now, this brave little two year old does this four times a year and goes to seven specialists who are working on his treatment. At the age of two Mario cannot talk, sit up, crawl or walk like other children his age. Because of this he receives physical therapy and training on how to communicate.
Chromosome 4q Deletion Syndrome is a rare chromosomal disorder in which there is deletion of a portion of the 4th chromosome. Deletions may be in the middle of the chromosome arm (“interstitial”) or at the end “terminal”) and have varying effects. There are enough common features for children with deletions anywhere along the range that it has been called a syndrome, but as with most rare genetic issues, the differences between children can be tremendous. Visually there are commonalities between kids, much as with Down Syndrome, in this case, the most distinctive visual features include short limbs, a high “frontal bossing” on the forehead, large head, wide set eyes, low set ears, thin upper lip and short, high nose. This gives children a “babyish” look for longer, which can be compounded by motor issues. Because of the rarity of this disorder, it can vary from person to person. The doctors that are taking care of Mario are learning from him as well as treating him.
Because of Q4D, Mario has many problems. Besides the developmental issues, the disease has manifested into heart and renal failure. A leaking vessel in his heart, along with a hole, needs to be repaired when he is 4 years old. Right now, he isn't strong enough to have the surgery. In addition to Mario's heart, he also experiences seizures, brain malformations, renal disease and hypothyroidism. Until recently, all of these afflictions aren't covered by any sort of added insurance because of the rarity of the disorder. Miraculously, recently research has finally begun. It seemed unlikely for quite some time because diseases like muscular dystrophy or different types of cancer have a monetary backing, while lesser known disorders fall between the cracks. The Novello family is trying their best to make people aware of the issue.
Unfortunately, children who are afflicted with Q4D don't have a very positive outlook. According to research, nearly 70% of children afflicted don't make it past age two. Mario has been one of the lucky 30% so far. He will have his third birthday on September 17th. Part of his success is because his parents and doctors caught the disorder early in his life and have done everything they can to make Mario's life. So far he has received the medical treatment that he needs and the tools to make his life comfortable.
Mario's parents are doing everything they can for their son. Despite his weakened condition, he is a very brave and strong-willed child. His parents have had a very positive and inspiring attitude, but they can use some help, not only through donations, but through awareness of Q4D. Doctors don't know about this disease any more than the general public. Without research, it can never be cured. Mario's parents have a goal to make the public aware of what their son is going through. Because of this, they have set up a web site called www.mariosmission.com. There you can "meet" this brave, young man and find out what you can do to spread the word or donate to his cause. They also have a Facebook page: MariosMission where you can follow along with his struggle and wish him the best of luck. For my friends in the Youngstown-area of Ohio, Mario's friends and parents are throwing a fundraiser on September 3rd for him. It is at the IceHouse Inn on West Webb Road in Austintown, Ohio (right off of Rt. 76). They will be having volleyball and cornhole (bean bag toss) tournaments along with raffles all day on Saturday to help Mario. Please go if you are in the area. I know there are readers of this web site all around the world. We've been read in all but 17 countries worldwide. Please, join the Facebook page, go to his web site and share some love with this child. Thank you.