Tuesday, March 17, 2009

All about Alana...Turner Syndrome & Autism as it relates to us.

So I typed this up today for the mothers group I am part of locally that is mothers of children with special needs. It is basically so everyone new and old knows what your child and what your background with "special needs" is about. They might learn something new, have things in common, etc. Its kind of an intro to why we are in a special needs parents group to begin with. I have wanted to write this as a post here for awhile and keep it as a permanent link by her photo and autism and TS links on my sidebar.. this just pushed me to do it finally! I will follow up a different day with some photos of her in her harness, etc.

I am Crystal mom to 3, Alana is 7 this weekend!, Kaila is 5 and Donni is 1. I was 18when I had Alana. She was diagnosed in utero with Turner Syndrome via an amnio because she had a cystic hygroma and heart and kidney abnormalities on ultrasound. We were seen at the University Of Washington High Risk OB once the diagnoses was made, had NST tests 3 times a week after 32weeks, ultrasounds once a week, echocardiograms every other week. I had preeclampsia and was induced at 36 weeks.. for 4 days. The placenta actually broke in pieces as it was being removed, it had to be manually taken out.. this showing that is was very fragile and probably is what caused the preeclampsia in the first place and very scary because the placenta is the lifeline for your baby.

She had a nuchal cord at birth, 2 very large "bubble" hematomas on her head that took 6 months to fully go away.. Those made them do a head ultrasound which showed a very minor grade 1 0r 2 bleed under the skull but nothing to "worry" about. She had torticollis as a baby because of the weight of her head and neck muscle issues. She had loose skin on her neck at birth from the hygroma which later forms "neck webbing". U/S and blood testing on her kidneys after birth verified the prenatal ultrasounds that her right kidney was non functioning and covered in cysts, luckily her left kidney is "normal". Because of the high levels of minerals and creatinine in her blood from the shock of birth on her good kidney she was put on a special prescription formula for kidney patients for the first few weeks until her kidney could adjust, which luckily it gradually improved and she went on regular formula. She would not/ could not breastfeed because she couldnt latch due to her high palate (part of turner syndrome) I pumped for 2 weeks and gave up after having a severe bleeding breast infection and excruciating paid. She had kidney reflux and was on antibiotics for the first year.. (you will soon learn that she has had just about every case situation that is speculated to cause autism.. antibiotics included). Now she is monitored yearly for her kidneys and may need the bad kidney removed in the future as it is not shrinking like it should.

Echocardiograms (heart u/s) at birth showed that her heart condition wasnt near as severe as they had thought prenatally.. yeah good news!. She only had a bicuspid aortic valve and subaortic membrand.. nothing serious at this point.. subsequent echo at 4months showed littlle change with a very mild coarcation of the aorta, again fine just recheck at 1 yr. She got really sick at 6months old and we were in the hospital for 3 days, tested for everything.. including a spinal tap, blood cultures, stool and urine cultures. Everything came back fine.. she had a bacterial infection as evidenced by the petechiae spots she had but it was never found, went away with IV antibiotics.. during this hospital visit they also checked her heart to make sure there was no infection there.. they soon realized that her coarctation had gone from very mild to moderate, requiring surgery. Now we knew why she never drank more then an ounce of formula! She would immediately fall asleep because it was too much work on her heart to eat, she used the 2 1/2 ounce size preemie bottles until she was 12months old.

The typical surgery to repair coarctation of the aorta is not open heart but actually goes kind of behind and under the armpit near the back, there is no heart lunch machine used, the heart is not stopped etc. But they do clamp the main artery (the aorta) to repair it. This restricts blood flow to the lower half of the body temporarily.. including the kidneys. They did not want to risk damage to her only good kidney so they decided on doing a less invasive balloon angioplasty through the groin.. If its less invasive you ask why don't they do this for every patient?? because it doesnt work as well and has a risk of the coarctation returning. But it was the option that best fit her individual situation. This was done at 9months old. She now has yearly checks at the heart doctor including echocardiograms so monitor the other heart anomalies I listed above as well as look for any new or recurring problems. Her aortic root is a little dilated but is simply being monitored. She may need open heart surgery on her aortic valve in the far future (we hope) but for now all is well and stable.

She also was born with congenital bilateral hip dysplasia, basically meaning your hips are not in the socket. It is actually pretty common among girls, even more so girls with turner syndrome and even more so for babys that are breech. She was put in a pavlik harness for 2 1/2 months.. so not fun but I am thankful that it corrected with only the harness because many need to do surgery and more restrictive braces and body casts to correct it. Because of the odd way it made her legs be she slept most of the first few months in her infant carseat, as a bonus this also helped her reflux. More good news! It was checked every year after and now we only go every 3 years until she stops growing.

She also had pretty bad jaundice and was put on a bili bed at home for 4 days, with a home nurse coming to check her bilirubin every morning. At age 18months she was put on growth hormone which is a treatment for the height issues with turner syndrome. It is a shot everynight.. we did this for 2 years but we decided that she wasnt growing well enough on it to be worth it because she surely didnt tolerate it, and to us it wasnt important and mostly cosmetic, plus we are short ourselves and don't see it as a hinderance for her. Most continue this treatment until age 15 or so. Most girls with TS start hormones at puberty age to stimulate periods as most do not on their own and secondary characteristics. TS girls are typically infertile. We will not being doing full hormones levels if any because she/we will feel greatly lucky if we do not have to endure periods with a child with autism.

Alana was started in early intervention at age 2months, mostly for physical issues because of her hips and not being able to move her legs much for 2 1/2 months. Also for feeding issues with her not being able to suck vigorously and leaking formula out of the side of her mouth etc. She began feeding therapy which soon turned into speech therapy. We went to North Carolina to meet other girls with Turner Syndrome that we chat with online when Alana was 16months, and all the girls were very talkative and outgoing.. some even too outgoing. Alana took her first few steps on this trip too! Not long after we returned home I started realizing that maybe there was more to "the ways of alana" then just TS? She was deathly afraid of the vacuum, she loved to be tickled and squeezed, she screamed bloody murder when you touched her hair, she was also afraid of the lawn mower and the blender. She liked things to be repeated over and over again. She liked to feel and fidget with weird items.. So I came upon sensory integration disorder and was certain she had it, I spoke to other moms online about it and mentioned it to her therapists. They agreed she definitely had some sensory issues and advised we start a "sensory diet".

Autism was mentioned a few times by parents online but never by her therapists as they had known her since birth and she was always a social baby, she could tell you stories with her eyes even if she couldn't talk and they looked right at you, she loved being held, she loved going anywhere and everywhere. She had always been a little delayed in her milestones which could be attributed to Turners and more so her medical conditions and bilingual home, there was never a regression there but the social part of her personality as a baby soon changed and this is what I think really made me look into autism more seriously as she quit looking you in the eye, she quit responding to her name, she quit wanting to be held, she quit having meaningful interactions, when her sister was born she totally ignored her as if she wasn't even there, no worries about jealousy in our house.

As she got a little bit older I realized her speech was not improving and her mannerisms/stims were actually more severe. And I knew delayed speech and some of the things she was doing were not "just turner syndrome" like most people just assumed they were at first. Thats the difficulty with a dual diagnoses, she was diagnosed later then she could have been because her therapists unfamiliar with Turner Syndrome assumed everything that she was doing was part of it and not something else. Soon it was obvious to me she had autism after reading up about it.. and we finally got the diagnoses at almost 3 years old. It didn't shock me because she really has a textbook case and I was sure of it before we even went in. And I think in a way I didnt grieve like most do when they hear their child has autism because I had in a way already grieved when we were given the Turner Syndrome diagnoses. There wasn't anymore grief left in me I suppose.

At 3 she was placed into the TEACCH program and it is a wonderful program for her, she missed a year of it because of housing issues, but now shes back where she does well. She gets speech and OT at school, speech at providence and she has done hippotherapy at equifriends off and on since she was 2 1/2. She hasnt been now for almost 2 years, but we hope to go again soon as finances permit. She is not potty trained, right not that really is a largest issue along with safety (running away, bolting, in the street etc). She is verbal to request or protest. I want cookie please.. etc., down, no etc. stuff like that. She loves to sing and can repeat a song after only hearing it once. She loves the music/instrument room at the seattle science center! She is a little parrot these days but she will use the phrases at an appropriate time too where it relates to the situation. She will not ask you a question nor answer converstational requests, like what did you do today? etc. she will however answer questions as it relates to her needs such as do you want and apple or banana? or do you want to go outside? etc. typically her answer is repeating the word outside, or choosing and saying banana.. she does not usually say "yes" but we are working on it and she will with prompts. She is very smart, you just have to find unique ways to get the information out of her!

She has sleep issues like most kids with autism. She didnt used to cover her ears with certain noises, but she started doing that a little over a year ago. We tried the diet for awhile but seen no improvement and it was very stressful for our family and we discontinued it. For now our treatment is a good school program, doing therapy at home and trying to live life as normal as possible and expose her to the outside world as much as possible. There is much more to her but I have wrote enough for now! Oh and Kaila and Donni are "typical" as far as we know.


Bridget said...

Oh wow, I've had so much of that!!! I had surgery for an aortic coarctation when I was 12. They started with an angioplasty but it was too dangerous and they ended up doing surgery. The scar from that surgery goes under my right arm and around to the middle of my back. I call it my smiley face scar. I didn't get diagnosed with TS until I was in the hospital for that surgery. They put me on experimental growth hormone shots three times a week until I was 17...hated them!!! My mom gave them to me and when she had to give them to me in the hip, she always sang, "Moon River", "Shine On Harvest Moon" or "Blue Moon", and it drove me crazy!! She was the only one who thought it was funny...

Domestically Disabled Girl said...

Again, what an amazing mother you are! Thank you
for taking the time to share her story with us. I can't even imagine what you've been through as a mother, and the strength you must have!

Oh Boy...Oh Boy...Oh Boy said...

thanks for sharing this. I'm not sure I'd ever heard this full a version of all you and A have been through. I already knew you were an awesome momma but this just makes me really see all you've been through.

戴佩妮Penny said...


Anonymous said...

Omg I have both those things but can't gather why u would want to keep her. I cry myself to sleep every night. Even though we r genetic misfits we have feeling 2

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