I honestly do not really know how to begin here. My son has an extremely rare chromosome disorder. Inverted Duplication Deletion of 8p, or invdupdel8p. In 2008 there was a news article about an 8 (ish) year old girl who has it and there were 4 confirmed cases worldwide and it was not even named yet. In 2011-12 another site says that there were less than 50 known cases worldwide. All cases are De Novo meaning “new” (genetic, not passed down from parents). There is a 1/33,000 chance of a child to be born with this. If you do have a child with it, your chances of having another baby with it goes up to 1% that is 1/100. That is a bigger chance than me getting pregnant on my birth control! So my husband and I decided not to have any more kids, which breaks my heart. Nearly (if not all) of the people with it have low muscle tone, global developemental delays, and moderate to severe learning disabilities.
I was told by the genetic counselor that we should not expect much verbal communication from him, but he will be able to communicate through a communication device (touch pictures and a computer will speak for him). He may walk around age 4, IF he is motivated. Common issues are cleft palate, kidney and heart issues, small airways, GERD, seizures and epilepsy, along with feeding problems, autism, and sensory issues.
Somehow, my son has only a high palate (which i also have) small airways, and he outgrew his reflux. He can can eat ok but is still on baby food and rice cereal at 15 months. He has trigger finger (his fingers get stuck in the bent position) and is due to have surgery to fix that very soon. He is the most laid back, happy, affectionate, content child I have ever met. He LOVES life, Mommy and Daddy, big sister and her friends, puppies, bathie time, and playing on his tablet. He loves to be read to and kissed and hugged.. and he is SUPER ticklish.
At almost 1 1/2 he still cant sit up by himself or crawl. He can scoot around on his back by pushing with his legs.
We discovered his disorder almost a year ago. I love my son very much, and I would love to say I wouldnt change anything about him. But that is not true. I wish he was a typical child, I would keep his personality 100% but I would want him to be able to keep up with his friends and peers. I would make other parents stop being shocked when they learn he is older than 6 months. I dont want him to be picked on in school, or to watch the other children play soccer while he has to stay on the sidelines. I dont want to worry about what will happen to him when my husband and I are too old to care for him.. you hear all these horror stories about disabled people being abused, and every time i look into my little boys hopeful, kind and bright eyes I cant help but worry that he may be the victim of that someday. You see I dont want to change him because of all his therapies or doctor appointments or all the hard work I put in to helping him be the absolute best he can be.. all that is nothing compared to what I am concerned about. It doesnt even phase me. I love all the extra time and attention I get to give him, and he loves it too.
Sometimes it is really hard tho. A friend of mine had her little boy 2 days or so after mine. She posts pictures of him on facebook and he is just the cutest little thing! I love seeing those pictures, but at the same time, I see him playing on the playground running around, or standing up, or holding onto a toy, hugging his big sister, or feeding himself.. all things mine just cant do.. and I get this wave of.. i dont know.. jealousy, pain, sadness.. a deep sorrow gripping relentessly onto my soul. Sometimes I lay in bed wondering if maybe i am dreaming and I will suddenly wake up. Maybe this is one of those craaaazy pregnancy dreams! Or maybe Ill wake up in the hospital still, or possibly he is still 4 weeks old! But every time I know within my heart its not a dream.
Sometimes I climb into his crib and just lay there, holding him so tight.. Just not wanting to let him go. Because sometimes, if I close my eyes and just feel his little arms resting on my shoulders, it feels like everything is normal. Every now and again I just cant keep it together anymore and I break down and cry on his chest or the crook of his neck. When I look up at him, there he is with those sweet, adoring eyes, and he smiles a huge smile at me. And I know I wouldnt wish for anything else than for him to be happy and it provides me with enough comfort to get through the day, knowing he isnt sad or lonely or hurting.
Im still in the denial phase. You know. The “well maybe he has a mild case” or “maybe it will only affect him physically” and I wonder if that will one day pass as well.
I hate when people say “this too shall pass” or things like that. That honesly is no comfort. My family and I have not told very many people of his diagnosis. I just dont want all the stares and such, I just want to enjoy my baby.
Please dont judge me for how I feel, this is really hard for me to talk about and I know it sounds kinda messed up. I love my boy more than anything and I am so proud to call him my son. I just needed a vent. If any of you have kids or siblings or cousins or anyone that is disabled you are more than welcome to tell me about them and your experience or how you coped with it at first. And dont be afraid to ask questions either.