I just got a dx

[ana&angel]

Hi all,
We just got my daughter's dx. She is del +.
She is 19 months old. She is a lovely child! A little bit of her story: Respiratory distress at birth; I was unable to breastfeed (she would not latch on), but she never had reflux problem. She sat by 6.5 months, crawled at 1 year and started cruising and walking with a push toy at around 13/14 months, but she would not talk (she bables sometimes, but no words). When she turned 18 months and was still not walking by herself I knew something wasn't right...I had an abnormal quad screen result (positive for downs when I was pregnant) and the pediatrician referred me to a geneticist. We got the final dx this week.
She is very smart and we are now trying to figure out the best therapies to help her. She started OT and is on the waiting list (we are waiting on the insurance) for her to start ST and PT.
We live in Dallas, TX and I am looking forward to meeting other moms and share information about AS.
I went through a difficult time trying to cope with the dx. I have my moments where I feel sad, but I feel truly blessed to have her in my life. She is my everything!
I hope to meet other moms and make friends here too!
Thanks!

[sallyshackcloth]

Hi, Ana and angel. Your daughter is doing very well with the cruising and pushing toys around. Coping with the diagnosis is very hard at the start. Hopefully people here will help you with both the sad times and the happy times! Welcome to the forum and best wishes, Sally and Hannah (just turned 21!)

[Mommy23]

Welcome Ana and angel! You are in the right place. Everyone here has been so helpful and understanding. I hope to hear more about your daughter. My son Jaden is 28 months and was diagnosed on 11/10/09. He had similar issues as a new born. He has been hospitalized 3x all for respiratory and oxgen issues. Sleep has been our biggest struggle, but I think we may almost be there. I never thought he would sit up or even crawl. He is now sitting, crawling, climbing, and cruising. He babbles mamma, un un un, and wa wa wa. There are days where I am still sad, but it's hard to stay that way when you have an Angel. It will get better day by day. One thing about Jaden is he is so sweet and forgiving. He always gives us hugs and or has us smiling and has us crackin up!. There's always a new adventure waiting for us everyday!

Teresa
Mom to Jaden (2, ICD), Felicity(4), Joshua(, Wife to Eric
CA
_________________
Teresa (mommy23)
Jaden 22 mos.(AS Genotype TBD)
Felicity 4yrs.
Joshua 8yrs.
Wife to Eric
San Jose, CA
(408)590-4993 cell to cell only pls

[chancesmom]

Welcome!!
Its so nice to meet you My son is 5 and was diagnosed del+ 3 years ago. At first it was hard to wrap my head around what life would be like with AS but now sometimes we forget he is any different. He doesn't talk or walk yet but he is learning to use a ACC device to communicate and can walk holding our hands for short periods of time. I hope you find lots of help on this forum. I know it has been a blessing to me through these past 3 years. Also I live in San Antonio, TX so we are kinda close to each other Do you have a facebook? if so I am on there (Shauna Moreno) as is a handful of other parents in the TX region.
_________________
Regards,
Shauna, mom to Chance (DOB 11-09-04) Del +
daniella (DOB 4-20-09)
wife to Jay

[alison2]

Hi Ana and Angel my little girl Abi is 5 years old and was diagnosed at the age of three. She was slow to reach all of her milestones such as sitting up on her own. Her Consultant thought she may have had cerebral palsy, but she began having seizures which the doctors had difficulty controlling. Blood tests were positive for AS. She is absolutely delightful and full of love and strong hugs which are wonderful This site is still new to me but it is a fantastic place to come and find information and hopefully friends with Angels in common. Welcome to you both.

[Magster's Mom]

Welcome, Ana! Your daughter sounds like she is absolutely thriving!! She is doing SO well for a little one with AS, I hope you are very hopeful for her future!

I have good friends with children with AS in the Dallas/Fort Worth area. Feel free to send me a private message or e-mail at sheldon.erin@gmail.com and I'll help get you in touch if you haven't found them already. They are lovely people.

Our Maggie is almost 7. She is an awesome kid. She is sound asleep right now, in her bed, having a sleepover with her best friend and her little sister. She is totally worn out from a long day at the beach/park for our Canada Day festivities, followed by fireworks downtown long after her usual bedtime. She has a half dozen really close friends and a dozen more good friends. Her best friends all jockey to figure out who is her BFF and who is the BFFFF, etc. => In so many ways, Maggie's life is fairly normal for a 7 year old. She has so many challenges, but she also has unusual gifts and abilities that other kids her age lack. We once ran into an old Irishman who took one look at Maggie and, without knowing anything about her, just grinned slyly and said he hadn't seen one of the fairy folk since he was young but he'd recognize one anywhere. Maggie laughed her fey smile and they shared a knowing smile before the man vanished. Seriously. It was the strangest and sweetest encounter we've ever had with a stranger. She doesn't talk at all, never shares her secrets, but I wouldn't be a bit surprised to discover one day that she truly is one of the fairy folk.

Maggie has also had her health challenges, from seizures to respiratory failure. She had ARDS, acute respiratory distress syndrome, treated by 3 weeks on a vent in the ICU, and years of frequent hospitalizations for pneumonia. She has a g-tube and is treated for asthma, epilepsy, GERD/reflux, osteopenia, etc. She is now absolutely thriving. She loves school, loves her friends, and loves her life. Angelman is just a part of her, and it not an all-bad part of her. Its just part of her, just like being a girl is only part of her but doesn't define her. She takes so much joy from everyday life, and she shares that joy with reckless abandon. I have no regrets. I look forward to hearing more about your Abi!

Erin
_________________
Erin Sheldon, mom to Maggie, del+, DOB 8/14/03 and Ella DOB 8/19/06. www.sheldonhickey.com

See Maggie star in her movies on YouTube: http://ca.youtube.com/user/magstsersmum

[ana&angel]

I really appreciate each one of you taking the time to write me. I found so much support and that's been so helpful!
Thank you Alisson! Thank you Shauna! (we are already friends on facebook , I will send you a message there)
Thank you Teresa! Thank you Sally!
Thank you Erin! I have read a lot your answers and I hope one day I can help others like you. Your knowledge about AS has been so helpful. I really appreciate you answering my questions!
I love the way you express yourself. It gives me so much hope and makes me look to the whole AS with other eyes. AS is not my daughter, is just part of her!!!!!!!!!!!!!