How does 22q effect both mother and child ?

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.

 

 

To the teachers who are teaching my child with 22q11.2 deletion syndrome IEP and hopes

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My 10-year-old is mainstream with an IEP has ADHD issues and attends multi appointments within a week sometimes two a week and misses school. truancy issue could be a concern, especially in the winter months when my daughter has fevers which often go unexplained. I have our journey on my website as a blog post because I want to share with the teachers what it is like first hand from a moms perspective raising a child who also has it and the many challenges and joys we face.

I am sharing this info because chances are if you are reading this you are Bellas teacher and I sent you to this page to understand what it is that Bella goes through and how it looks to help keep her as healthy as she appears.

Here is a list of Therapies my child needs in order to appear as healthy and happy as she seems to be 

Ot is short for Occupational therapy is a health and rehabilitation profession. Occupational therapists work with people of all ages who need specialized assistance to lead independent, productive, and satisfying lives due to physical, developmental, social, or emotional problems. It is do to these appoitments she does so well.

Pt is short for This is because Bella has Cerebral palsy and she has leg braces that she wears at night so we have to help with some of the spasms she has that used to keep her up nightly Bella takes a pain med and sees pain management as well.

Physical therapy is used to treat a variety of diseases and conditions using physical means, like stretching or exercise. It can help reduce pain and allows a gradual return to activities after illness, injury or surgery.  This helps with the leg spams that used to keep her awake at night and she used to Miss school do to screaming and crying in pain at all hours of the night do to leg pains. Since we started doing this stuff she has been on pain meds as well and she has had almost no issues at night except for very few. As long as we keep her active she does well

Physical Therapy Goals

  • Balance and coordination

  • Joint and muscle pain

  • Strength and endurance

  • Walking

Then we also do Speech Therapy

In a recent parent-teacher conference, maybe the teacher expressed concern that your child could have a problem with certain speech or language skills. Or perhaps while talking to your child, you noticed an occasional word not understood as clearly as peers her age.

It's wise to intervene quickly. An evaluation by a certified speech-language pathologist can help find out if your child is having problems. Speech-language therapy is the treatment for most kids with speech and/or language disorders.

Speech Disorders, Language Disorders

A speech disorder refers to a problem with the actual production of sounds. A language disorder refers to a problem understanding or putting words together to communicate ideas.

Speech disorders include:

  • Articulation disorders: difficulties producing sounds in syllables or saying words incorrectly to the point that listeners can't understand what's being said.

  • repetitions ("b-b-boy"), or prolonging sounds and syllables (sssssnake).

  • Resonance or voice disorders: problems with the pitch, volume, or quality of the voice that distract listeners from what's being said. These types of disorders may also cause pain or discomfort for a child when speaking.

Language disorders can be either receptive or expressive:

  • Receptive disorders: difficulties understanding or processing language.

  • Expressive disorders: difficulty putting words together, limited vocabulary, or inability to use language in a socially appropriate way.

I am looking forward to updating everyone on how the treatment and process go we had Bella do a neuro evaluation and that post is also on my website this is the follow-up plan and treatment which we will be doing to help her.

Monitoring of her IEP and goals is important so we can stay on top of her progress reports between the teachers and doctors.  I look forward to working with you as a team this year in helping Bella achieve her school goals and her grades. I do all I can and I am willing to come into the school and volunteer my time when I can help out let me know. Thank you for your time in understanding and I look forward to a great year.. I have included a notebook to send communication back and forth so we can work on any issues that come up.

I also request social to be kept this year and a freidnship group started so Bella can work on social cue issues so can get help with mataining and making new friends to have a more successfull time during school there for will be able to focus on her school work if she is not focused on aniexity issues that come from dealing with peers in her age group.

I am wlling to volunteer my time and come in the class room just request a day or two notice before hand. I am willing to help out with actives and filed trips. Just let me know how I can also help you.

Looking forward to a fantastic school year.

Love Bellas mom Aka Amanda