Josh's mom, Michelle, shares about their experience with 1p36 Deletion Syndrome.
"Josh was diagnosed with 1p36 deletion syndrome when he was 3 weeks old. He was having several seizures a day which led to the diagnosis. When I first started to do research on 1p there was very little information out there. I was told that there were only 10 to 20 families worldwide that had his diagnosis. Obviously, that number has changed. His geneticist told us that he would have severe mental retardation and would probably not know who we were. When Josh was 17 months old I found another 1p mom on-line. Her daughter was the same age as Josh. Before I met Annette I felt alone. My family and friends didn't understand what I was going through. What Josh was going through. Annette understood. Our first conversation we talked for hours. Seven years later she is one of my closest friends, I found a support group when Josh was 18 months old and by the time we had our first 1p conference I felt like I already knew all of the families. These 1p families are my family. We have had many doctors and therapists that have rejected Joshua. They don't know what 1p36 deletion syndrome is, and they simply do not want to be bothered. We have moved several times to find the best help for Josh. Through all of our ups and downs I feel blessed to have found a small group of people that understand my life. A small group of people that get upset when Josh isn't treated fair. and a small group of people that can rejoice with me when my 8 year old fed himself for the first time. It is so important to spread the information about 1p. Our children have the right to reach their fullest potential. We need so desperately to spread the knowledge about 1p36 deletion syndrome. One reason is that new parents could be misinformed the way I was. Yes, my son does have mental retardation. However, he knows who I am. He actually understands just about everything you say to him. He has the greatest sense of humor. He plays with toys, loves to be read to, and has no problem signing no when I tell him to do something. So the doctor who told me that he would probably never know who I am was completely incorrect. Josh also has health issues. He has scoliosis, kyphosis, nystagmus, strabismus. and epilepsy. He does not walk or talk. I know sounds like a foreign language, right. This is another reason why it is so important to have doctors who know what to look for. He is a smart little boy trapped in a body that doesn't want to work. I don't want families to struggle the way we have. No one deserves to not know what to expect. Information is power. Please help us help our children."