Living with Mosaic Trisomy 22
Mosaic Trisomy 22: My daughter's life long adventure.
Mosaic Trisomy 22 is a tough diagnosis let me help.
The purpose of this web page will be to help give parents that sense that they are not alone. It has been a rocky road, but every day seems to gets better. Every smile takes my heart and grasps it harder and harder knowing that my child beat the odds and has become one of the strongest people I know. I want to be able to create an atmosphere for parents who hear the heart-wrenching words that their child has a chromosome disorder the hospital near them has never seen and make it livable. I am always open for discussion, conversation, or any questions.
The path in life is just a journey. Grasp it and hold on to it. Always remember the stronger your faith, the healthier you and your child will be. When things get rough find that one person you can lean on and don't let go until you can stand up and go full force.
Your faith is all you have, let it grow, reproduce and flow into the lives of the people you love.
What to expect:
The research I have obtained about Mosaic Trisomy 22
Mosaic Trisomy 22 is a rare chromosome disorder in which the 22 chromosome is present 3 times. The typical chromosome would have only 2 cells in it. The severity of this chromosome disorder will vary depending on how many cells throughout the body will obtain these mosaic chromosomes. Here is a list of some clinical features that have been recorded in Mosaic Trisomy 22 patients:
- Abnormal Ears
- Webbed Neck
- Cardiac Abnormalities
- Long Fingers
- Kidney Problems (Missing, Extra, or Underdeveloped)
- Growth Retardation (Which I have seen in my daughter, although she is catching up quickly)
- Shortened Limbs (My daughters' legs are slightly smaller than average)
- Mental Delay
- Hemidystrophy (abnormal development of each side of the body)
- Drooping Eyelids
- Elbow Malformations
- Abnormal or/ missing fingers/ toenails
- Absent Ovaries/ fallopian tubes
- Underdeveloped testes or ovaries
This list is not a complete list and was obtained from
If you are pregnant and just finding out that your baby has Mosaic Trisomy 22 I would suggest making sure that you are asking all of the questions you can think of to make an informed decision about your baby's healthcare.
During my pregnancy, I made it clear that I did not want to terminate. If that is something that you would like than that is your decision and the hospital should oblige. There is no right or wrong answer in how we handle the news of our child. Take some time to think about what your future may hold.
Abortion is real. Its devastating. Weigh your options. There is always hope.
Her Medical Diagnoses
I would like to personally let everyone know what exactly is my daughters medical diagnoses:
1: Mosaic Trisomy 22
2. Dandy-Walker Malformation ( a Cyst blocking the cerebellum from growth)
3. VSD: Ventricle septal Defect Or in Non Medical terms she has a hole in her heart)
4. Sacral Dimple: above the buttox
6. GERD: acid reflux
8. Chronic Congestive Cough: not related to asthma!
9. Partial Duplication of chromosome 1
10. Possible Autism
11. VP shunt with a Dual Catheter
12. ASD: Atrial Septal Defect (repaired in 2016)
This is just a list of her medical diagnoses. This is a child with many years of therapy (speech therapy, occupational therapy, and physical therapy.) Alexia has flourished with this assistance.
The song that would make the world stop for Alexia
This is the song I would sing to Alexia and still do. This song would stop her in her tracks as there were medical procedures going on. Alexia is such a beautiful girl and this song will follow her forever.
Good Morning Beautiful By: Steve Holy
Just an update!
Alexia is now in 4th grade and 10 years old. She is an amazing artist and is in love with the history of our world. She is one of the smartest kids in her classroom and she is on a neverending road to success.
Leave a comment for everyone to see that you have been here!
This content is accurate and true to the best of the author’s knowledge and does not substitute for diagnosis, prognosis, treatment, prescription, and/or dietary advice from a licensed health professional. Drugs, supplements, and natural remedies may have dangerous side effects. If pregnant or nursing, consult with a qualified provider on an individual basis. Seek immediate help if you are experiencing a medical emergency.
© 2012 AlexiaLynn