[tri-med] Fw: [tri-wings] An intro and questions(penny)

in case no one else jumps in with an explanation of roberstsonian 
translocations i thought you could help kaylene out a bit- her note follows.

and by the way, devon looks fantastic as do the rest of the family.  i am 
glad he had a good time on his big day. i love the new bear by the way. what 
happened to the old one?
pam, mum to t 13 angel tyler, kira-4 and abbey 7 weeks
salem ontaio

----- Original Message ----- 
From: <ekmaurer3@xxxxxxxxxxx>
To: <tri-wings@xxxxxxxxxxxxx>
Sent: Tuesday, June 20, 2006 6:36 PM
Subject: [tri-wings] An intro and questions


> Hello,
>
> My name is Kaylene Byrne, and I have been on the list for about 3 months. 
> I=
> am unable to post personally due to my domain being barred from the list 
> s=
> erver, but Erin has so kindly posted this on my behalf. I feel like I know 
> =
> all of you from reading your posts over the last 3 months, but none of you 
> =
> know me. I live in Sequim, Wa and my son was born Feb. 28, 2006 at the 
> loca=
> l hospital in Port Angeles. He had some physical abnormalities (extra 
> finge=
> rs and cutis asplasia), but the main concern was he wasn=92t breathing 
> well=
> . He was airlifted that night to Children=92s Hospital in Seattle. My 
> mothe=
> r-in-law drove my husband to Children=92s that night. I had to stay behind 
> =
> due to some hemorrhaging and sudden high blood pressure (it had been 
> normal=
> my whole pregnancy). We had no warning that anything was wrong. I have a 
> h=
> ealthy 2 year old daughter, and during this recent pregnancy my 16-18 week 
> =
> ultrasound revealed only that my baby had a two vessel umbilical cord. A 
> se=
> cond ultrasound was ordered for 3 and a half weeks later to check the 
> kidne=
> y development and amount of amniotic fluid since these are apparently the 
> m=
> ost common problems associated with two vessel cords. The second 
> ultrasound=
> revealed sufficient amniotic fluid and good kidneys. My quad screen and 
> al=
> l other standard blood tests came back fine..good to go. On the way to 
> Chil=
> dren=92s my son stopped breathing. He was intubated and hooked up to 
> oxygen=
> immediately. When he arrived at Children=92s tests began immediately. By 
> t=
> he time my husband arrived 2 hours later the cardiologist had already 
> repor=
> ted an abnormally large hole in my son=92s heart. Once I arrived the next 
> d=
> ay the bad news kept coming. So many things were wrong=85including kidney 
> p=
> roblems! He had one large horseshoe shaped kidney. The geneticists were 
> wor=
> king hard on his karyotype, and on March 2nd we were informed that our son 
> =
> had a Trisomy 13 Robertsonian Translocation. We were absolutely 
> devastated.=
> We had never heard of it before! He had been diagnosed with a 
> =93floppy=94=
> windpipe. (That=92s exactly what they said to us) A tracheotomy wasn=92t 
> g=
> oing to due any good. His windpipe could close in any place at any time 
> and=
> he may or may not be able to open it again. On March 3rd we asked the Dr. 
> =
> to remove his breathing tube=85if he could breathe on his own for 24 hours 
> =
> we wanted to take him home. Sadly he only breathed 4 hours. He took his 
> las=
> t breath in my arms with his daddy by his side at 11.32pm on March 3rd. We 
> =
> named him Mathias Jordan (it means =93gift of God=94 =93river of miracles=
> =94). Before I even got pregnant I wanted to name my son Mathias. 
> Originall=
> y my husband was against it, but around the fourth month of my pregnancy 
> my=
> husband agreed to the name. We didn=92t know what our baby=92s gender 
> was,=
> and when I went into labor 18 days early we still didn=92t have a 
> girl=92s=
> name picked. It wasn=92t until after he was born that we finalized his 
> mid=
> dle name, and it wasn=92t until after he died that we found out the 
> meaning=
> . I believe it was meant for him. I have many questions, but I=92m curious 
> =
> to know if there is anyone else out there whose child wasn=92t diagnosed 
> un=
> til post-birth? And is there anyone who can help me better understand the 
> t=
> ranslocation reoccurrence risk? The geneticist originally told us we had a 
> =
> 15% chance of reoccurrence, but later she changed it to less than 1%. On 
> th=
> e internet I read that translocation reoccurrence risks are based on each 
> p=
> erson=92s individual karyotype. (I probably spelled that wrong=85sorry). 
> Th=
> anks for letting me share. I can read your reply posts, but can not reply 
> u=
> nless you give your e-mail address. If anyone would like to contact me 
> dire=
> ctly my e-mail is Kaylene@xxxxxxxxxx
>
> =20
>
> Kaylene
>
> mommy to Melanie and Mathias (T-13, translocation)
>
>                  Building ___ooOOoo__ Rainbows
>                       www.trisomyonline.org
>                  Families Helping Families On-line
> 


                  Building ___ooOOoo__ Rainbows
                       www.trisomyonline.org
                  Families Helping Families On-line

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