Balin- Pierre Robin Sequence

Genetic Disorder Information

Balin- Pierre Robin Sequence

This video is a story about my son Balin (Bay-lin). Balin was born with a rare genetic disorder called “Pierre Robin Sequence/ Syndrome”. The aim of this presentation is raise awareness for PRS but also to inspire families of children with this and other life threatening conditions. Time is fleeting. Nothing stays the same. A hard day today, could be a monumentus day tomorrow. Dont give up. Reach out. Find the help you need and hold tight to your loved ones for tomorrows another day. For more information on Pierre Robin please contact Pierre Robin Australia Information Support and Education Inc on (03) 87511174, Melbourne, Australia or via email mcpe02@hotmail.com. Thanks for watching. Mick (Balins Dad)
genetic disorder information Video Rating: 5 / 5


Question by aloha: What are the major causes of sickle cell disease?How is life different for a person with this genetic disorder?
PLease help nd if possible give resources!Thanks.

genetic disorder information Best answer:

Answer by matador 89
Aloha,
The signs and symptoms of sickle cell disease are caused by the sickling of red blood cells. People with this disorder have atypical haemoglobin molecules called haemoglobin S, which can distort red blood cells into a sickle, or crescent, shape. When red blood cells sickle, they break down prematurely, which can lead to anaemia. Anaemia can cause shortness of breath, fatigue, and delayed growth and development in children. The rapid breakdown of red blood cells may also cause yellowing of the eyes and skin, which are signs of jaundice. Painful episodes can occur when sickled red blood cells, which are stiff and inflexible, get stuck in small blood vessels. These episodes deprive tissues and organs of oxygen-rich blood and can lead to organ damage, especially in the lungs, kidneys, spleen, and brain. A particularly serious complication of sickle cell disease is high blood pressure in the blood vessels that supply the lungs (pulmonary hypertension). Pulmonary hypertension occurs in about one-third of adults with sickle cell disease and can lead to heart failure. Haemoglobin consists of four protein subunits, typically, two subunits called alpha-globin and two subunits called beta-globin. Mutations in the HBB gene cause sickle cell disease. The HBB gene provides instructions for making beta-globin. Various versions of beta-globin result from different mutations in the HBB gene. One particular HBB mutation produces an abnormal version of beta-globin known as haemoglobin S (HbS). Other mutations in the HBB gene lead to additional abnormal versions of beta-globin such as haemoglobin C (HbC) and haemoglobin E (HbE). HBB mutations can also result in an unusually low level of beta-globin; this abnormality is called beta thalassemia.

ALL ANSWERS SHOULD BE THOROUGHLY RESEARCHED, IN ANY FORUM AND ESPECIALLY IN THIS ONE. – MANY ANSWERS ARE FLAWED.

It is extremely important to obtain an accurate diagnosis before trying to find a cure. Many diseases and conditions share common symptoms.

The information provided here should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions.

I add a wiki link with details of this subject

http://en.wikipedia.org/

wiki/Sickle-cell_disease

Hope this helps
matador 89

Know better? Leave your own answer in the comments!


Share This Post

Recent Articles

24 Responses to “Balin- Pierre Robin Sequence”

  1. The Green Shepherdess says:

    I was born with sticklers and pierre robin’s. No one knew it before I was born, but at birth I had respiratory distress too and needed immediate surgery. I was on a feeding tube for the first year of my life. Had many surgeries, some for facial reconstruction.  I’m now 28 and doing well. Best of wishes for your son :)

  2. youngsatchmo says:

    Thank you. I am a pediatrician and I just diagnosed a baby with Pierre Robin sequence today. This video is very inspiring.

  3. lucky2damaxable says:

    Hi my name is Jessica I’m 26 years old I’ve had many surgeries when I was an infant I was diagnosed with Pierre robin and know how it is everyday I wish your son the best tell him there’s a lot of us just very few in between he handsome no matter what good luck god bless

  4. SkilledFighter1621 says:

    im sorry to hear i hope everything goes good. I had it when i was born and i also had cleft palette. So i hope everything is fine with your son and hope you guys have a happy life

  5. villagelinca says:

    Just wanted to add that Pierre Robin Sequence isn’t necessarily genetic as you wrote in your description, but can also be purely a problem in structural development. I’m sorry you had to go through the uncertainties during the pregnancy. I faced similar issues, but now have a beautiful, active, smart 2 year old boy. Only difficulty now is understanding his speech. Best wishes to your family and thank you for sharing.

  6. Mark Sutherland says:

    My daughter was born with retronathia and no palate – lived the first 3 months of her life in hospital. She nearly died a few times but the surgeons and paediatricians are true heroes to us. She 18 now totally beuatiful, a champion athlete and great singer, she is a prefect at high school. She now has beaitful teeth as they were all crooked. Braces did the job. Your boy will be just fine – all the very best.

  7. DeresaC1 says:

    I have Pierre Robin syndrome. I also had a cleft palate and small jaw and my mother fed me through a tube. I am now 50 so there is hope that all will turn out well. I wish you the best with Balin.

  8. 44646519 says:

    piękny synek i widok…mama-tata-i zdrowy maluszek.pozdrawiam

  9. 44646519 says:

    mój synek też urodził się z zespołem pierre robin…jesteśmy już po operacji.oboje bardzo żeśmy się męczyli ale teraz jesteśmy bardzo szczęśliwi…marzenia jednak się spełniają!!!!! iwona

  10. mzlissawhip says:

    This is heart breaking and only because I have been through this with my son Andrew who is now 8 almost 9. Brings back memories of a scary time.

  11. TheRedDevil1992 says:

    Absolutely love this, my heart goes out to all the parents out there who have to deal with complications like these. I am 18 and I too was born with Pierre Robin Sequence/Syndrome. Unfortunately for my parents I also had to have a tracheostomy. I cherish every living moment because I understand (as much as my 18 year old mind can) how lucky I am to be alive. I love my Mum and Dad.

    Ryan x

  12. 2LateIWon says:

    My nephew was diagnosed with this today. Never hearing about this I had to look it up. So thanks for the vid. Balin has beautiful and joyful little eyes!!

  13. sicklad100 says:

    balin is pronounced (bah-len ), its hindu balin was the monkey king, the names meaning is to take half the strength out of anthying that opposes him
    (good luck for your son hopfuly he lives a wonderful ful life :) )

  14. 2alipervolare says:

    Send a kiss to your beautiful Balin!
    Even our son, Lorenzo, in Italy, was born with Pierre Robin sequence has lived many moments like that. Now, twelve years old, smiles and thank you for being born.
    I posted your video in my blog on pierre robin
    Every day I thank him next …
    My hug
    Paola

  15. 2alipervolare says:

    Send a kiss to your beautiful Balin!
    Even our son, in Italy, was born with Pierre Robin sequence has lived many moments like that. Now, twelve years old, smiles and thank you for being born.
    I posted your video in my blog on pierre robin.
    Every day I thank him next …
    My hug
    Paola

  16. Alice Dunn says:

    great video i just had a little boy two months ago who was born with PRS its a hard time and a long journey but its all worth it! he is waiting to get a tracheostomy & then hopefully we can start thinking about bringing him home in time for Christmas! Balin is beautiful!

  17. wescari92 says:

    Such a familiar story! Our son Mason was born nov 2007. Thank you for sharing such a beautiful video

  18. PierreRobinAustralia says:

    Hi, thanks for your post. What is you sons Name?

  19. sus1955 says:

    Balin is so cute! Brings back many memories for me…my son was born with Pierre Robin…..he’s 25 now, so I can barely remember all of the troubles……

    everything will be fine….

  20. Donna Lea Sua says:

    So Inspirational! This cutie Pie made my day, may God bless your family and this special little one.

  21. horseylover123 says:

    How is Balin doing now? My prayers are with your family!

  22. ashleeslate says:

    This is an amazing video, I love it! These children are angels!!!!
    My daughter also has pierre robin with goldenhar syndrome and i wouldnt change a thing because her spirit is phenomenal!

  23. SuperBluehaze says:

    I am not Orthodox but there is an orthodox saint that cried one tear. I do not know his name; miracles happen everyday and heroes are just normal people doing the best they can; good luck.

  24. catharine1967 says:

    my son is also born with pierre robin
    he is 16 years old now ,and very intelligent
    but i really see the same beautiful baby face

Leave a Reply

© 2014 Our Healthy Life. All rights reserved. Site Admin · Entries RSS · Comments RSS
Powered by WordPress · Designed by Theme Junkie

View My Stats