+ Reply to Thread
Results 1 to 8 of 8
  1. #1
    Join Date
    Jan 2012
    Location
    Wamuran, QLD
    Posts
    3
    Thanks
    2
    Thanked
    0
    Reviews
    0

    Smile Genetic Disorders

    Our little man has been found to have some genetic abnormalities with number 15 Chromosome. His symptoms include developmental delays, severe speech delay, hypotonia, different facial features...the list goes on. There has been no formal diagnosis yet, as we have to see a Genetic Counsellor following our next paediatrican appointment but after reading some stuff on the net, we are trying to educate ourselves on what it may be so we are prepared. Angelman's and Prader-Willi syndromes have been ruled out although he has some of these symptoms, but we discovered another very rare syndrome called 15g4 microdeletion syndrome on an American genetic website today...so can't wait to find out more. Whatever he has it won't change our course of action for him at this stage...so on with the physio and speech therapy. Anyone out there had any similiar experiences?


  2. #2
    Join Date
    Jun 2011
    Posts
    101
    Thanks
    1
    Thanked
    2
    Reviews
    1
    Hi cozziecane

    It can be an overwhelming feeling when you are faced with genetic difference.
    My DD 21 months has a chromosome deletion on the long arm of one of her 22nd, this gives her velocardiofacial syndrome.
    Heart disease, cleft palate and speech are only the tip of the ice berg really.
    We have had a tough road up until now with her health, being very sick at birth.
    As for speech. We are just starting that now, it is such an open
    Playing field as every child is so incredibly different!
    My suggestion to you is to talk to your hospital genetics team about a good speechy, get involved in some genetic support groups they can offer so much to you and your son.
    Good luck and remember what makes our children different makes them incredibly strong people.

  3. #3
    Join Date
    Mar 2012
    Posts
    2
    Thanks
    0
    Thanked
    1
    Reviews
    0

    Default Wow!

    cozziecane: I have a feeling my 17mth daughter has the same or very similar genetic disorder. She was confirmed at having a rare genetic disorder but the doctors didn't bother giving us the name as it was so new "we wouldn't be able to find information on it".

    I must admit, I'm a bit emotional knowing that there is possibly someone else in Australia that is going through the same thing as me and my family at the moment, as we were told that we were the only ones outside of America, Canada and Mexico. In no ways am I grateful knowing that some other family is having to deal with this like us (I wouldn't wish this on my worst enemy).

    My beautiful little girl has severe developmental delay, difficult to control epilepsy, microcephaly and pink birthmark type spots all over her body. Is this similar to your little man?

  4. The Following User Says Thank You to Julesy83 For This Useful Post:

    cozziecane  (05-03-2012)

  5. #4
    Join Date
    Oct 2007
    Location
    Blackwater qld
    Posts
    5,357
    Thanks
    512
    Thanked
    145
    Reviews
    0
    Achievements:Topaz Star - 500 postsAmber Star - 2,000 postsAmethyst Star - 5,000 posts
    Hi

    My daughter Alex is 5 and a half. She's had a rough beginning with congenital heart disease, laryngotracheamalacia, gut issues resulting in tube feeding for yrs, low tone, developmental delays, speech delays, many many other issues and now autism.

    Genetic testing over 5 yrs has shown nothing We're still on the search.

    Good luck with your little man

  6. The Following User Says Thank You to LivinOnAPrayer For This Useful Post:

    cozziecane  (05-03-2012)

  7. #5
    Join Date
    Jan 2012
    Location
    Wamuran, QLD
    Posts
    3
    Thanks
    2
    Thanked
    0
    Reviews
    0

    Default Don't give up trying to get answers!

    Hi Jules,

    I am so sorry to hear of your news but know exactly what you are going through, but I have to firstly say how disappointed I am at the doctors who I think have been totally unprofessional with their dealings of this. Why won't they give you the name of the disorder? Because it's so rare? That sounds very unethical to me. You have more than rights to know what is going on with your little girl. Sorry about the rant, but I am very passionate a patients rights and emotions when dealing with this stuff and I won't stop until I have answers.

    Our little man has been diagnosed with Fragile X syndrome and your little girls symptoms are only vaguely similiar to his. He has hypontonia (low muscle tone), severe speech delay and general global developmental delays. There is a risk of seizures as he gets older, but there are no signs of epilepsy or the pink spots you described.

    If you'd like to, please give me more details about the condition that the doctors have given you (if any) and I'll see what I can find out for you?

    Do you have a good paediatrican? Clinically I was happy with ours, but his bedside manner was terrible so I'm looking at changing for the future to someone who also specialises in his disorder.

    Have you seen a geneticist?

    If you have any more questions or if I can help in any other way let me know, but don't give up trying to find the answers. I have also been on the rare disease website www.rarediseaseday.org and there are some stories, photos and cases on there that may provide some answers?

    Take care and chat again soon.

    Candy

  8. #6
    Join Date
    Jan 2012
    Location
    Wamuran, QLD
    Posts
    3
    Thanks
    2
    Thanked
    0
    Reviews
    0
    Hi there,

    Thank you for your post. I hope you find answers for your little girl soon. There are so many genetic disorders around that yes I can imagine it may be hard to find answers!

    I am relieved we now know what our little man has and can deal with it appropriately.

    All the best.

    Cozzie

  9. #7
    Join Date
    Jan 2012
    Posts
    193
    Thanks
    23
    Thanked
    30
    Reviews
    0
    Quote Originally Posted by cozziecane View Post
    Our little man has been found to have some genetic abnormalities with number 15 Chromosome. His symptoms include developmental delays, severe speech delay, hypotonia, different facial features...the list goes on. There has been no formal diagnosis yet, as we have to see a Genetic Counsellor following our next paediatrican appointment but after reading some stuff on the net, we are trying to educate ourselves on what it may be so we are prepared. Angelman's and Prader-Willi syndromes have been ruled out although he has some of these symptoms, but we discovered another very rare syndrome called 15g4 microdeletion syndrome on an American genetic website today...so can't wait to find out more. Whatever he has it won't change our course of action for him at this stage...so on with the physio and speech therapy. Anyone out there had any similiar experiences?

    Where do you live??

    I too have had alot of experience with generic disorders. At the age of 15 mths my son started having uncontrollable seizures one night, no medication was getting them under control so he was put into PICU where a breathing tube was put in so stronger drugs could be used. After 48 hrs they stopped. Obviously our first question was .. What's wrong with him?! He had never ever had seizures before. After weeks of every possible test , they started genetic testing.. 6 weeks after that first night we finally had a diagnosis. He had a Mitochondrial Disorder, specifically Alpers Disease.

    Alot of the symptoms I can now recongnise he had.. Hypotonia, feeding issues, develpomental delay and just no energy. Once the seizures hit, it means the disease has attacked the body and in time the liver will start failing.

    3 mths and 3 days after that first seizure our little boy passed away at 18 mths old. This was just over a year ago . My heart and our life is so broken with what we went through, I'll never understand why this had to happen.. But that's another story ..

    I hope I don't upset anyone by telling my story. I too was told Alpers Disease is so very rare.. A 1 in 250,000 child diagnosis. There is not enough knowledge about rare diseaseandY can remember after diagnosis I just wanted to find another family who had gone thru it and ask all the questions the doctors can't give you answers for and I have found a fabulous support group online, mostly of Americans who experience what we do..

    I wish you all the best , I also hope this thread keeps going. I would love to be support and see how you all get along xxx

  10. #8
    Join Date
    Jan 2012
    Posts
    193
    Thanks
    23
    Thanked
    30
    Reviews
    0
    Bumping


 

Similar Threads

  1. Replies: 3
    Last Post: 09-07-2012, 16:54
  2. Pre-implantation Genetic Diagnosis
    By Wise Enough in forum IVF
    Replies: 1
    Last Post: 11-03-2012, 15:23
  3. Swallowing disorders
    By Sparklydreamer in forum General Parenting Tips, Advice & Chat
    Replies: 7
    Last Post: 24-12-2011, 14:07

Posting Permissions

  • You may not post new threads
  • You may not post replies
  • You may not post attachments
  • You may not edit your posts
free weekly newsletters | sign up now!
who are these people who write great posts? meet our hubbub authors!
Learn how you can contribute to the hubbub!

reviews
learn how you can become a reviewer!

competitions

forum - chatting now
christmas gift guidesee all Red Stocking
Shapland Swim Schools
Shapland's at participating schools offer free baby orientation classes once a month - no cost no catches. Your baby will be introduced to our "natural effects" orientation program develop by Shapland's over 3 generations, its gentle and enjoyable.
sales & new stuffsee all
Bub Hub Sales Listing
HAVING A SALE? Let parents know about it with a Bub Hub Sales listing. Listings are featured on our well trafficked Sales Page + selected randomly to appear on EVERY page
featured supporter
Vibe Natural Health
Your natural health care team for fertility, pregnancy, post natal and family health care. Our Naturopaths, Doctors, Osteopaths, Acupuncturists, Psychologists,Nutritionists, Pilates, & Massage specialise in women & children's health and wellbeing.
gotcha
X

Pregnant for the first-time?

Not sure where to start? We can help!

Our Insider Programs for pregnancy first-timers will lead you step-by-step through the 14 Pregnancy Must Dos!