I am the mother of a child with a rare chromosome abnormality and taking on each day one moment at a time. Walkthrough our journey with me.
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.
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
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 5th grade. wow has time flown bye! she wants to be a historian as she gets older. She is just an amazing child with so much will power. Please remember to keep up the faith and know that if you have a pregnancy with this diagnosis your decision is yours alone.
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
Guestbook Comments - Please leave a comment
AlexiaLynn (author) on February 21, 2014:
@rebekahdena: Hi there, I am sorry about your baby's father. My daughters father walked away from us as well. It is a terrifying feeling. Please feel free to join our group on Facebook. Just look up mosaic trisomy 22. We all look forward to helping you on your journey
rebekahdena on February 20, 2014:
sorry if this post shows twice.
I am 18 weeks pregnant with my 1st child, I am 39yrs old from Adelaide, Australia, the father is 40yrs old from west africa. I have my 12wk nuchel scan and baby was normal, but blood test came back 1:7 chance of down syndrome. Had amnio at 16wks, preliminary results were normal and it's a boy :), further testing showed no down syndrome but it also showed Trisomy 22 mosaicism. Have just come back from hospital after being told.
From the moment i told the father, he wanted nothing to do with pregnancy or baby, so doing it all alone.
Your daughter is amazing and so very beautiful.
Take care :)
rebekahdena on February 20, 2014:
I have just come from the hospital, I am in Adelaide, South Australia. I had my nuchel scan at 12 weeks which was normal but blood test showed 1:7 chance of down syndrome. I chose to have amnio at 16ish weeks, preliminary results showed normal, further testing showed Trisomy 22 Mosaicism, I am now currently 18 weeks. It has been confirmed that i am having a boy, i am 39 years old caucasian, father is 40 years old and from west africa. I am also doing all of this alone as from the moment i told the father i was pregnant he didn't want anything to do with it.
Your daughter is beautiful and amazing!
Take care :)
AlexiaLynn (author) on March 14, 2013:
@anonymous: I would be more then willing to. Email me at email@example.com and i will give you my cell number from there! Keep your head up.
anonymous on March 14, 2013:
I was wondering if I can speak to you. I just found out about my child having this diagnosis.
AlexiaLynn (author) on May 28, 2012:
@anonymous: Doctors are the worst advocate. Have very strong faith for not only yourself but for your baby as well. My amnio showed 40% mosaic trisomy 22 i told the doctors when she crys i dont want to here a word all i heard were her crys. Im here for you. Feel free to email me at firstname.lastname@example.org.
anonymous on May 28, 2012:
hi i just do the ultrasound and the do said that my baby is trisomie 22 he suggest to me to do amniocentesis and the result that my baby is trisomie 22 but i have to wait until next wensday for the final result and the doctor said all babies can't live even after the birth and i m verry scared if you can help me please
anonymous on April 11, 2012:
She is such a sweetheart! My son was born with mosaic trisomy 22 as well! Are you a member of the mt22 facebook group as well? If not, you should join us! https://www.facebook.com/#!/groups/177391992290377/
TTMall on March 24, 2012:
Great lens subject! Thanks for sharing!
AlexiaLynn (author) on March 24, 2012:
@CTsHeart: Thank you, Faith comes with the love for our father. Without knowing what he is capable of we have nothing. Since I have accepted him into our lives, I have not struggled.
CTsHeart on March 23, 2012:
What a beautiful angel! Your strength is amazing and I admire your faith, determination, and heart. Your children are so very blessed to have you!
AlexiaLynn (author) on March 23, 2012:
@anonymous: Thank you. This is a very rare chromosome disorder and want to give parents hope instead of having them assume the worst.
AlexiaLynn (author) on March 23, 2012:
@jordanmilesbask: Thank you. Everyday I wake up and thank god that she is alive, well and my own little miracle in this crazy world we live in. She is definitely a high light in my life.
anonymous on March 22, 2012:
great lens and beautiful girl
jordanmilesbask on March 22, 2012:
This is the first time I heard of mosaic trisomy 22.. You have a beautiful child and its great to hear that she's getting better and going really strong... Thanks for sharing and God bless you and your child always...
anonymous on February 02, 2012:
This is my Granddaughter, my daughter has made a web page on her disorders and conditions which doctors and specialist guaranteed if she went full term and had a live birth she wouldnât live past 2-3 days, she will be 2 on Feb 15th 2012 and has hit so many milestones we had no guarantee she would of been able to do. We are never âout of the woodsâ with certain issues with her and we still hold our breath when she gets sick but she really and truly is a blessing from god and full of happiness and life we treasure every moment with her.
anonymous on February 01, 2012: