I have mention 22q11 (22q) or DiGeorge Syndrome at some point or another on my website and blog and a lot of you still ask me questions about what exactly is it and what does it look like. That's why I started this blog to share with others knowledge of this little missing piece of dna and all the stuff that goes along with it.
22q is what Bella and I both have it is caused by the deletion of a small piece of chromosome 22 and the deletion occurs near the middle of the chromosome at a location designated q11.2
1 out of every 2,000-4,000 children are born with it, but to be a little more detailed – 1 in 68 children with congenital heart defects, and 5 to 8 percent of children born with cleft palate will test positive for it. 22q11.2 deletion is almost as common as Down syndrome.
The blessing we have is neither Bella or I have congenital heart defects and Bella was born with a soft palate, not a cleft palate.
So, what could we be facing? Well the list of issues associated with 22q11 is pretty long, but I’ll cover the more common ones, and how Bella and I are doing so far.
Heart Defects: This is probably the most common symptom of 22q11 and one of the red flags for it. Particularly Tetralogy of Fallot, Truncas Arteriosus, Interrupted Aortic Arch, and Ventricular Septal Defects (VSD). This is is never an issue Bella or I have ever faced however while developing Bella had extra blood pumping in the lower left chamber of her heart with a small hole guess what happens to that hole when Bella was born it closed up on it's on my magical baby that's for sure.
Heart issues for me is my heart beats faster I have vego vassel syncope means my heart races when under stresss or pressure and I pass out but you know no biggy compared to some of the bigger stuff I mentioned earlier.
Cleft Palates: Bella doesn’t have one, but she did have a ton of nasal regurgitation (her spit up would come up through her mouth and nose), There was so much puke in her earlier years we saw every specialist you could think of and had swallow study to get her formula thicken to honey and now 10 years later my bottomless pit eats as much as my 18-year-old stepson.
Feeding and GI problems: Bella did struggle with swallowing and feeding by breast milk we had to thicken her formula to the honey-like texture.
I have the worst of the issues when it comes to feeding I never had these issues but after I had Bella my stomach became paralyzed I think it was a slow transition, not something I was born with from 22q but from lifestyle and diet and the extra weight I gained while I was pregnant with Bella.
Immune Issues: We are lucky in the fact we saw an immune specialist and they are shocked and oh so baffled at how they say her Thymus gland by ultrasounds and blood work on both her and I is perfect. shocker I know but so is mine. but they did a blood test after she was born which shows she has an immune system. My birth mother has hypothrism but she does not have 22q my father has 22q and his thyroid is fine too. I don't know much about my parents to weight in on how this has helped us in our life but we have no issues with thyroid issues so many people are baffled and say we must since our genetic test shows Digeorge but that just isn't the case in our life. We did luck out in that aspect. Which I am forever grateful for and want and need other people to understand that.
Growth, Cognitive, Development and Speech Delays (learning difficulties): This is where Bella differs then I do and struggles more with. When it comes to development she is a year behind developmentally. The speech delays are language processing disorder that is often associated with children who have ADHD which Bella does have. We are in speech therapy once a week still even at 10 years old to help Bella organize her thoughts and speech patterns.
Kidney problems: Bella kidneys are perfect and functioning at a normal level.
I myself have kidney and gallstones which goes with the gastroparesis issues I mention I struggle with earlier.
Hearing Loss: I have the biggest issue of the two of us. My eardrum collapsed when I was younger about Bellas age and my ear had this click sound every time there was a sinus infection or the starts of sinus pressure.
Bella ears are perfect she did have one set of tubes in her ears but they were taken out and she has been talking none stop ever since. The hearing with Bella is not the issue it is the listening part that she struggles with.
Behavioral and Psychiatric Differences: Adhd and Aniexity issues are what Bella and I both deal with however we are not dealing with schizophrenic behaviors at all we have both been testest fully. I have to put this out there and share our truth and tell everyone this fact because there is a group of people fears mongering others to think this is how their childmight be when they are older. I am here to saying and setting the factual record straight since I too have 22q but not schizophrenia.
I do have ptsd from the abuse I endured as a child cause no one knew what it was I had growing up.
Some examples that 22q11 kids have a higher risk of developing are ADHD, autism, anxiety, schizophrenia, depression, and bipolar disorder. There is a big huge debate as to if all children with 22q have schizophrenia
I can assure you that is not that fact we Bella and I do not have schizophrenia or and do not have schizophrenia traits.
I do not have bipolar neither does Bella.
I am well into adulthood at 34 and I want to say that that study where people who were had been tested positive for 22q deletion but 22q deletion is as common as down syndrome then that means that people who have gone years without knowing they had 22q showed up with schizophrenic and now the 22q community is stigmatized with it and doctors are asking questions to their patients that are biased when they do testing for mental health issues this is a topic you should be watchful for. I also know other adults who are not schizophrenic and that test was done by a doctor who had tested a handful of people who were schizophrenic and discovered they also had 22q nothing more nothing less but the media and 22q groups made a big frenzie out of it to draw attention and create fear.
There are people who have 22q and have schizophrena so don't think you can't have it just be open minded to the idea it could or could not happen. End of rant
There you have it a small blurb you all have asked about how 22q effects both Bella and I
I hope this helped and if you have any questions or comments feel free to leave a comment below and share about your experiences.