symptoms of 22q11.2 deletion syndrome?
I had a friend ask me what are some of the symptoms of 22q?
It varies from person to person and could include up to 180 different but sometimes simular between person with 22q.
For example in my family the major issues is hypocalcium low idonize calcium levels. Meaning diet filled with calcium will not help treat the kind of hypocalciuma. The treatment with caltrio and ferninsol helps with vitimn d and B12. ferinsol is iron caltrio is compound calcium made into a liquid supension at a speciality pharmacy and can be flavored was what caused my daughter to have to have dental work. The flavoring is sugary syrup put into the med and inbetween the teeth is diffiuclut to reach in the back so Bella had to have kepra when younger for seizures and that lead to having this liguid compon calclium and such as stated above. Now that my kido is 12 had teeth surgery and is almost cavatiy free meaning the crowns that were on her baby teeth have fallen out and she has beautiful healthy smile now.
I wanted to share this and put this on my blog one day I would like to have credit where credit is due but we all know that the "eperts" will write up a post about teeth after I do. So Folks you seen her it here. Below is a long lists of other issues that could happen that need treatment if you have a missing piece of dna that is our bodies instruction materials. For me my major issue is gasteroparies notice that's not on the list of 180 things that could be wrong but digestive issues are. That is because all of us with it experience 22q differently based on where the location of the missing piece of dna ends up. Some of us like myself are very mild while others there is no doubt about it. Parents like to think it's only their child that's affected but truth of the matter is you as a parent can have 22q as a mom or as a dad. You need to consider testing for a fish test. I have so many other adults who know now that they have 22q but a lot of parents I encounter have that bublblist nose and those adorable 22q hooded eye lids and are in denial that they too could have 22q. That's okay that is totally up to you. I wanted to know after my father and siblings were diagonsed only to shut my father up about getting tested. See I appear like there is nothing wrong and can do all things that those who are parents in the 22q community claim I sould not be able to do like raise a child of my own! I know shocker I can wipe my butt too. That's a blog posts for another time. I wanted to put this out there to answer a question a reader had and hope this lists helps. So now you know what I deal with having 22q. Thanks so much for reading the list is below. I do not have all 180 symptoms infact I have the ones I put a marking next too
Allergy outside trees, grass, pet dander. / Asthma / Respiratory Arthritis from broken toes and elbow un related too 22q / Joint Ailments/ Muscular/ Musculoskeletal/ Bone Fractures more prone to slower healing time due to low calcium Autoimmune / Blood / Immune all clear I have live vaccines I had test to make sure that I was able to and that my kid can as well. Neither of us have side effects from vaccines except low grade temp Cancer(none) but had polyups remove after a gasteric study Cardiovascular / Heart bella and I both have mild heart murmer and I have attackacardia Dental issues Bella is mention above mine is from poor parenting care when I was younger and now as an adult I am getting dental work done. I had to have two teeth pulled out due to infections Diabetes / Thyroid / Obesity obesity after the birth of my child no throid issues despite popular beliefe that experts claim we don't have a throid if we have 22q I had mine tested it is fully there and functional with just normal average tcell count is only a tad low in both mine and bella Gastric / Digestive / Urinary (e.g. Crohn's, Heartburn, Kidney Disease)yes to all of it unfortunally it's from part of life with digeorge 22q. I don't have chrons but I have gasteroparies another rare disorder Genetic/congenital slow processing speed I can process info but at a little slower rate Mental Health (e.g. Anxiety, ADD/ADHD, Bipolar) Both Bella and I have physical and emotional adhd as well as anxiety I have depression and ptsd not related to 22q Male / Female Health (e.g. ED, Low T, Menopause, Osteoporosis)early menopause I take prgestion only bc pills Neurologic / Nervous (e.g. Migraines, MS, Stroke) Migraines Pain (e.g. Fibromyalgia, Gout) Unsure of fibromyaliga I don't get the burning feeling except in my toes. We are still testing me on that but I do have issues with gout sometimes Physical Disabilities none Skin / Dermatologic acne that time of the month Sleep Disorders insomina Vision / Hearing Impairments* I had ear drumb burst as a child about bella's age and I have first stages of cateracts.
I hope this helped if you want you can print this off and take it to your dr and high light the conditions you were diagonsed with. Bella also has a mild from of cerebral palsy I had a hihgh risk complicated pregancy. She has leg spams not the same as the ever popular posts about leg cramping that's common with 22q.
Thanks so much for reading. I hope this post helps you understand the common yet different stuff Bella and I with 22q both have.
Have a good week every one until next time Be kind and give credit where credit is due.