Trisomy 13 - Patau Syndrome Survivors - Josiah's 10th birthday party

[ThereseAnnM]

NIEW Trisomy Advocacy Group - Trisomy HELP

trisomyhelp (dot) org

SOFT Support Organization for Trisomy 18, 13 and Related Disorders

25 years Supporting Families

trisomy (dot) org

[ThereseAnnM]

@Alicatl45 Yes they are... we really ought to take them there again... you can see they loved it :)

[makmarinho123]

Olá! Parabéns pela linda criança. Parece-me que ambos tem a trissomia. O meu "bebe" vai fazer seis anos no dia 15/12. Fiquei muito feliz em ver este vídeo pois me dá muita esperança. Mas o meu não tem controle motora, ainda respira pela tráqueo e se alimenta por gastro. Então isso significa que nem todos os Pataus são iguais. Abraços e felicidades. Marcelo - São Paulo - Brasil.

[ThereseAnnM]

@makmarinho123 Please join the Spanish/Portuguese Speaking Group they could help offer you the most current Trisomy Family and Professional Support. One websites and Facebook. Go to the Trisomy13archive (dot) com site.. then go to the "Message Boards" You'll see a Yahoo Group Spanish board link there. Click and join.

[Ciofalo]

Think you!!!

[ThereseAnnM]

@Ciofalo you are welcome :)

[icepixycicle]

To ThereseAnnM: Courtney was diagnosed with alobar holoprosencephaly, horsehoe shaped kidneys, midline cleft, polydactyly and possible monoventricle heart all via sonogram. A CVS test revealed the trisomy 13.

[ThereseAnnM]

@icepixycicle Be sure to view the holoprosencephaly support off the lwt13 site. Here is the link to the Original format, (I'm partial to that one :) 2005-2010) livingwithtrisomy13 (dot) org/search.htm Search the term holoprosencephaly, there is even a link for a Professional who will try to treat.. with holo.

[ThereseAnnM]

@icepixycicle Holoprosencephaly (HPE) Support

- “ If the parent understands what they’re getting into, the risks, and the range of potential problems, I will help them, no matter what. If they want to be aggressive, I will support them, or if they just want palliative care, that is okay as well. (cont.)

[ThereseAnnM]

@icepixycicle ..(from cont.) Most of the families that see me come because they want treatment. They want to do the most that they can, whatever that most is. I try to help those that choose to go ahead with the pregnancy or those who did not have a prenatal diagnosis.”

Dr. Eric Levey, Kennedy Krieger Institute

[ThereseAnnM]

@icepixycicle Bottom line, you are able to prepare.... Please also contact NILMDTS a Complimentary Photography org You'll find their link off the Prenatal "Don't Miss" support links.

livingwithtrisomy13 (dot) org/content (dot) php/203

[ThereseAnnM]

@icepixycicle glad you found the Yahoo Group :)

[ThereseAnnM]

@ThereseAnnM 2011: Just noticed as we are Archiving the Original lwt13 format (website) that this link is broken to Dr. Levey's quote, it must have been removed from the KKI website. To find the most current info on him * Google: Holoprosencephaly Dr. Eric Levey, Kennedy Krieger Institute

[MrHopechild]

nice video and are they twins. 

[livingwithtrisomy13]

@MrHopechild No,not twins. While Natalia was just 6 months old, I was asking local "special needs" support if they knew of any survivors. Thankfully they called Josiah's mom and allowed us to connect. At that point I had a child in my arms who didn't do much, and thought from what I was told to expect, that she would likely die before her first birthday with this syndrome. With Josiah's visit I was given "Realistic Hope" that my child could also maybe crawl, hug and kiss one day.

[livingwithtrisomy13]

@MrHopechild Back in 2000 you did not see many images of living kids on the internet search engines. Rather what you saw were many pathology images of inductions in the early fetus stage or some of the rarest malformations. NOW you see many loved children. Google "trisomy 13" :)

[ThereseAnnM]

Well, Typically most Professionals only have one if maybe two of these T13 kids in their practice in a lifetime...Most medical groups would not want a a large population of them within their practice... but, there are some survivors. Many families have chosen to carry to term in recent years. There is much support off the LWT13 website with the Prenatal "Don't Miss" resources. Have you see the article Lethal Language - Lethal Decisions livingwithtrisomy13 (dot) org/Koogleretal.pdf

[icepixycicle]

Thanks for sharing this video, I'm due with a little girl in June this year who was diagnosed with trisomy 13 at only 13 weeks gestation. I'm only given absolute worst case scenarios by all the doctors who have seen me, and when I mention survivors I find online, they refer to them as "anecdotal stories" :P

[ThereseAnnM]

@icepixycicle "Anecdotal Stories?" thats ridiculous! Wow, are you in the USA? If all the Doctors are in your same medical group, they may be of like mind... not wanting many of these kids in their group. I suggest you contact Monica of benotafraid (dot) net and she could help you connect with a pro-life Doctor who would value this precious child of yours, and help you find resources so you can attempt to carry to term. I've never heard of a mom who has regretted carrying to term.

[ThereseAnnM]

@icepixycicle I would also be concerned, if they are calling these Hundreds of Survivor Stories "Anecdotal stories" than they are not keeping up with the REALITY and current TREATMENT guidlines. The Current Guidlines is to treat on a case by case basis as each child presents the trisomy 13 medical condidtions uniquely. Go to the Livingwithtrisomy13 (dot) org site and look up WHAT IS TRISOMY, there are several links.

[ThereseAnnM]

@icepixycicle Not only does the Living with Trisomy 13 site show well over 300 stories of kids who reached their parents arms, some surviving years, and others still living... the facebook crowd as a large growing support site too. Check out these groups: Trisomy 13 - Patau Syndrome - Living with Trisomy 13 Community, Trisomy Awareness (Photos of our Trisomy Miracles) 2011, Support Organization for Trisomy (SOFT)

[ThereseAnnM]

@icepixycicle and a few more Facebook pages/groups to check out. THE TRISOMY 18/13 JOURNEY, "Seasons of Trisomy" calendar, Faces of Trisomy

[ThereseAnnM]

@icepixycicle What have they found and or told you about your child? Was it via ultrasound or Amnio. Expected medical conditions, malformations. I have a wonderful resource in the medical field, who helps many of our families sort through the medical terms.. and helps you understand what they can and cannot do, what is appropriate medical care and what I would call "slow code." So please do tap into the many support resources, so you can enjoy every precious moment with your child. Blessings.

[hischick4lifey]

i love how happy they are..

[katecole07]

Wow! Do they have full or a translocation or mosaicism?

[ThereseAnnM]

@katecole07 They are both Full Trisomy 13. You could read more about them and other long term survivors at the Livingwithtrisomy13 link under the video.

[livingwithtrisomy13]

Thanks... I just put a call out to Josiah's parents, we'll have to go to Chuck E Cheese soon... both are two years older. It would be fun to see how they've grown and changed. Just adding that video behind this one.... coming soon... :)

[TheGothicBrokenDoll]

I fall in love with them!

[ThereseAnnM]

@TheGothicBrokenDoll They make it easy.. their love is perfect love, pure... just like a toddler 18 mo.. you can't get better than that.. :)

[TrulyBlesssed5586]

They are adorable, they are so blessed to have such a loving family to give them the best life possible

[ThereseAnnM]

@TrulyBlesssed5586 I dont think I would have stood in line for a child like this, no, I probably would have ducked in the back of the crowd. Oh, but what blessings this little one has brought to our life, our family, those she's come in contact with...her life certainly has purpose. She was the inspiration behind this site

livingwithtrisomy13 . org, and it all started with sweet Josiah who came to visit us when Natalia was 7 months. His mom sharing the possibilities, giving us hope:)

[flameworker321]

Who will take care of them when you are old?

[ThereseAnnM]

@flameworker321 The same family members who would take care of anyone within our family or extended family who would not be able to care for themselves, whether an accident, illness, or the elderly. We've all cared for our parents, or grandparents. Seems so silly there would be a question on who would care for these most precious of souls. There will be family members who would give of themselves, make the appropriate decisions, because its the right thing to do.

[amelitaz]

@ThereseAnnM Flameworker321's question wasn't silly it just showed concern for their future.

Because sadly & undeniably there will be a time when their parents are physically unable to be their carer.

When that happens, I'm sorry, but there may be no family members & if there are, they may not want or be able to be their caregiver.

That is a possibility, so whats next? Being placed into permanent care? :(

[ThereseAnnM]

@amelitaz You never know what tomorrow brings, thats why we Embrace each wonderful day with this precious child. Even a typical child or adult in your family or mine could be stricken with a disability, any moment, any day. "Thats a possibility, so whats next? Being placed into permanent care?" Be sure you are prepared too :) Get Information/Resources - Planning for a loved one with Special Needs -Bradley S. Erdosi, Esq.

willsandtrustslaw . com I'm sure he can help you find someone local 2 U

[amelitaz]

@ThereseAnnM I like your outlook.... thanks for answering.

[Ciofalo]

me and my wife just lost our baby son diagnosed w Trisomy13..He didn't make it full term and was lost at 20 weeks...these children are beautiful! I wish them all the best!

[ThereseAnnM]

@Ciofalo I'm so sorry...

[ilovejake29]

God bless you guys

[ThereseAnnM]

@ilovejake29 Thanks.:)

[pistukas]

Wow..they are lucky they're stille alive...usually Patau syndrome causese a hude damage to organism...

[ThereseAnnM]

Sadly the typical literature does not offer these kids much hope... It is true there are some abnormalities that are certainly life threatening. But often these kids can be given some medical intervention and some do rather well. They still have delays, and many medical issues, but I would not say Natalia lives in a life of pain. She is a very happy child. Very innocent. Basically a real sweetie! Thanks for watching. her mom :)

[ThereseAnnM]

@pistukas I wanted to add, there have been wonderful changes in how these kids are treated due to the multi social media resources. Its the families sharing the reality, on websites, blogs and facebook that have made the most effective change in how these kids are now treated. There has been an explosion of positive change within the last 10 years. Wonderful websites all inspired by these most precious of souls... each child touching hearts, loving prayer - Whether here moments, days or years.

[txstoryteller]

Precious; God bless those little children!

[niquejoy]

aw yall so cute i hope josaih had a happy birthday and live a long life =D

[SilverxPlasma]

Josaih is 10 years and Natalia is 7 years... They both live in the same area and their families are able to get together a few times a year.

TheresseAnn

[janb17]

plz, how old are these girls??

[raerae1985]

Oh my gosh, they're so adorable!! It's clear Josiah and Natalia are best friends.