Guest guest Posted June 2, 2008 Report Share Posted June 2, 2008 Welcome to the group. I hope they don't make you wait too long for your results. For me, waiting was a pretty hard 3 days. Narelle Mum to Eve 22 mths, Lily 5 mths (MDS) Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 2, 2008 Report Share Posted June 2, 2008 Welcome to our new family and any other new members I may have missed over the past couple months. I've been a little out of commission after having a baby, but I just wanted to introduce myself and welcome any new comers to our group. My name is and I'm the Newsletter Editor for IMDSA (more about that in a moment). I'm also the mom to 4 kids, my oldest diagnosed at the age of 2 with MDS. That was a torturous 2 weeks waiting for the call. When we got the diagnosis I found IMDSA and it has been such a source of support and information ever since. A little over a year ago I joined the board of IMDSA as the Newsletter Editor. Our quarterly newsletter is full of information from professionals and fellow members who are parents, grandparents and individuals living with MDS. The newsletter is one of the many benefits of the annual membership to IMDSA. As a member you also gain access to our archives so you get more than just 1 year's worth of newsletters. To become a member just go to www.imdsa.com and sign up today! If you have any other questions feel free to email me at slpbjones@.... Welcome to our group! I hope you find the support and answers you're looking for. This doesn't have to be a difficult process - there are lots of other people here who have been through it all before and are ready and willing to give support. IMDSA Newsletter Editor Mom to Aidan 6 (MDS), a 4, 2, Evan 2 months Welcome our New Family! Hi Everyone We have a new family joining us this morning! Here is what they had to say... My son has recently been tested for MDS. I'm not sure he has it, but there are clinical signs. He is 4 years old. I would like to find out more about MDS. Welcome to our family! I am so glad you have joined us! Please tell us all about you and your son! I am sure at this point you are full of questions and wondering so many things! Please feel free to ask all the questions you can think of here! We will all be very glad to share our experiences and help you in any way that we can! Kristy Mom to Arron 26, 23, Tim 22 MDS, Stevan 21 and Garrett 12 http://www.mosaicmo ments.today. com Kristy Colvin IMDSA President ____________ _________ _________ _________ _________ ____ International Mosaic Down Syndrome Association PH: 1- Toll Free: 1-888-MDS-LINK www.imdsa.com Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 3, 2008 Report Share Posted June 3, 2008 Hi welcome to our group. Tell us more about your son? What symtoms is he showing that they thought mds? Sue Isabella 17 months Kristy Colvin wrote: Hi Everyone We have a new family joining us this morning! Here is what they had to say... My son has recently been tested for MDS. I'm not sure he has it, but there are clinical signs. He is 4 years old. I would like to find out more about MDS. Welcome to our family! I am so glad you have joined us! Please tell us all about you and your son! I am sure at this point you are full of questions and wondering so many things! Please feel free to ask all the questions you can think of here! We will all be very glad to share our experiences and help you in any way that we can! Kristy Mom to Arron 26, 23, Tim 22 MDS, Stevan 21 and Garrett 12 http://www.mosaicmoments.today.com Kristy Colvin IMDSA President ____________________________________________________ International Mosaic Down Syndrome Association PH: 1- Toll Free: 1-888-MDS-LINK www.imdsa.com Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 3, 2008 Report Share Posted June 3, 2008 Welcome. I am so glad that you had the chance (3 years) to bond with your child before getting a diagnosis.In " my " opinion, this helped your daughter significantly (not knowing). <br> Wow, she said her ABC's at 2?! That is wonderful! I wish my son did at five, but we have other issues. <br> I am a little curious, and I hope you do not think I am being too invasive with my questions.Does your child have pectus excavaum (a sunken chest), which can relate to heart/lung problems? Also, you mentioned the lung issues... have you ever heard the term " chronic changes " mentioned after an x-ray of your child's lungs? (I actually am asking for personal reasons and I wonder if Ineed to have my son's heart rechecked. He has pectusexcavatum and " chronic changes " (also known as " pulmonary infiltrates " ). If so, have they given you a cause for this? (From what I have read, allergic reactions and reflux/aspirations can cause or contribute to this.) My son got RSV also and when he was in school, he constantly got respiratory infections....he is better now.<br> You mentioned your age of 35, so I want to make sure you know that MDS has nothing to do with your age. <br> What percentage did they give you on the mosaicism and how many cells did they check? Did they test just blood or tissues also? (Sorry, not meaning to quiz you to death.) Have you and your husband been tested? (Just curious....can explain later...)<br> Glad you did not have an amnio! (Those have a high risk for limb deformities and miscarriage.)<br> 20# at one year is great.I have a 14 month old that was 8# at birth and is barely 16# now. <br> Don't worry too much about that. WOW....a great birth for a 10 pounder!!! How much did your other child weigh??? You grow 'em big! I had three that were 8#, one 7#, one 5# 3 oz. I read what you found on Double Aortic Arch and speech delay (interesting connection); you know that " mosaic " means " two or more cell lines " ,and more commonly there is more than normal and trisomy cell lines. Your child could have the deletion and the extra chromosome also. (Just to give you a heads up, in case you may not know that.)<br> Find an awesome well-known geneticist with years of experience in your area to visit often with your list of questions in hand. A good geneticist will do a thoroughcheck,listen to your concerns, and do a more quantitative analysis (500 cells at least rather than merely 20 cells, which is what is typically done. This can be important.) Last but not least, mother's instincts the best indicator of somethng wrong. Trust your instincts,but do not worry needlessly; if you have a legitimate concern with information to substantiate your concern, then voice it until a doctor listens. Also, try signed language, ASL or signed exact english along with spoken language. Your child is probably like mine and understands far more than she can speak. We have one that reads, but has apraxia of speech.<br> Sorry for all the inquisitions; I do hope something I have said, rather than asked, helps you in some way. <br> All The Best...<br> <br> > > > > Hi, thanks for the welcome. I am , and my husband is Marty. > > Last week, Paige, our 3-year-old daughter was diagnosed with > MDS. > > She is our third child (I have a 17-yr-old stepson and a 5-yr-old > > son). The pregnancy and delivery were easy, and she was born the > day > > before her due date. The triple screen was negative, so we did a > > level 2 sonogram instead of amnio. I turned 35 three months > before > > her birth, so we weren't too concerned. > > > > When she was born, they let me hold her for a second, and then > > suddenly there was a team working on her because her breathing was > > very raspy. She came out in 3 pushes, so I thought she needed > extra > > help getting rid of the mucus. They cleared out as much as they > > could, and then said she would clear up. She was a very noisy > > breather, but otherwise healthy. She was 10 lbs 1 oz. She had > > trouble nursing, and the bottle gagged her, but we worked through > > that. I knew that something more was wrong. I remember holding > her > > and telling my husband, there is something wrong, but they think > I'm > > crazy. > > > > Over her first year, she was hospitalized twice for RSV. The > > treatments made her pulse ox level drop, which was strange. They > > tested her for cystic fybrosis during her second hospital stay. > > Negative. We fired our pediatrician because she kept telling us > she > > would grow out of it. Finally, a respiratory tech at the hospital > > said we should go to a pediatric pulmonologist. I did, and he > > diagnosed her congetital heart defect in 5 minutes in his office. > > The next day, she underwent a battery of tests to confirm the > > diagnosis - double aortic arch. At the time, she only weighed 20 > > lbs, and she was a year old. A couple of weeks after her first > > birthday, she had surgery to correct the defect. After a few > weeks > > to recover, she was a new child. Energetic, gaining weight, she > > learned to walk and caught up on all the physical milestones. > > > > When she was a little over 2, I started noticing her speech was > much > > more delayed than her peers. Everyone told me not to worry about > it, > > her speech would explode at any time. It never did. She could > count > > and say her ABCs, but she doesn't know her colors, shapes, or > letter > > symbols. She doesn't use sentences at all. At her 3-year- > checkup, > > her pediatrician recommended speech therapy, so I found a > therapist, > > and she has been going for a couple of months. We testing her > > hearing, and that was fine. I went to the internet and > > googled " double aortic arch and speech delay " and got tons of hits > > about a chromosomal defect called 22q11 deletion. My husband and > I > > were convinced this was the problem, so I found a geneticist and > had > > her tested a few weeks ago. He said he didn't think she had 22q11 > > because she had no facial markers for any syndrome, and it was > > probably just a delay with no reason. When I hadn't heard from > him, > > I assumed everything was fine. He called and told me it was not > > 22q11, but they did find something. Did I want to come in or hear > it > > on the phone? Of course, I had to know, and he told me she was > > mosaic for Down syndrome. Wow, did that come out of left field. > > > > Now,I am okay with it. She is the same beautiful sweet girl she > was > > before the call. We already had her in therapy, so we will just > keep > > going with that. I plan to keep her in her pre-school that she > > loves, but add sessions at our local elementary school early > > intervention program. I would just like to talk to other parents > who > > know what this is like and what we have ahead of us. Sorry this > is > > so long, but it's been a long 3 years > > > > > ******************************************* > > Don't worry, it's no long it's just your story. The same happend > with (16 msd) the recommended 3 cariotype and when he have > 4 years they, finally, give me the diagnostic for " Nandy " MSD with > 5.7% > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 12, 2008 Report Share Posted August 12, 2008 Hi Everyone We have a new family joining us today! Here is what they had to say... i have a son with mds and would like to know others with children who also have mds Welcome to our family! I am so glad you have joined us! Please tell us all about you and your son. Feel free to ask any questions and join in our discussions here! Kristy mom to Arron 26, 23, Tim 22 MDS, Stevan 21 and Garrett 12 Kristy Colvin IMDSA President ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~ International Mosaic Down Syndrome Association PH: Toll Free: 1-888-MDS-LINK http://www.imdsa.org http://www.mosaicmoments.today.com Quote Link to comment Share on other sites More sharing options...
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