Sara update (new pics)

[Mr. Luos]

Well...yet another dreadful day.

Sara saw the genetics doctor two weeks ago. More questions arise from that visit.

Just going to type up what we have from the hospital as I can't explain it any better then that.

Sara was initially seen in the Genetics clinic by Dr. B on April 25th for evaluation of right hemihypertrophy, history of hydronephrosis and lymphedema. At that time, an etiology for her features could not identified although several studies were recommended. He recommended she follow up with Genetics in 3-6 months.

Due to Sara's hemihypertrophy of unknown etiology, Dr. B recommended she continue on the Wilms tumor protocol involving abdominal ultrasounds every 3 months until age 10 years. Her last ultrasound noted a slight increase in bilateral hydronephrosis, but no abdominal masses. Her hemihypertrophy involves the lower right extremity, hip, and genitalia (mainly her foot). She also has fine hair over the extremity. Her mother has not noticed a significant difference in her hemihypertrophy over the last 6 months.

Sara is followed by TCH Urology for her bilateral hydronephrosis. At her last evaluation, Dr. F recommended monitoring Sara's hydronephrosis with serial imaging every 3 months. He did not recommend any surgical intervention as he thought it would likely resolve spontaneously. Since the hydronephrosis was detected at 6-7 weeks of age, it has remained stable without any improvement. Sara's next evalution, including ultrasound and nuclear medicine renal MAG3 scan with Lasix, is planned for September.

Recently, Sara has developed >6 cafe au lait macules. She has no other neurocutaneous stigmata.

Sara has not had a formal ophthalmology evalution but her parents do not have any vision concerns.


High resolution chromosome analysis with extended metaphase analysis to rule out mosaicism (June '07) : Normal female karyotype (46, XX) with no evidence of mosaicism.

They did the ultrasound, blood draw, and nuclear testing today.

Differential diagnosis would include Klippel-Trenaunay syndrome, Proteus syndrome, NF1 and unspecified mosaicism. Her lymphatic dysplasia is consistent with KT syndrome but she does not have venous malformations of substantial port-wine stains which are common and usually the most prominent feature of the disorder.

It goes on to mention the size of her head (a little too big I guess) and yet another chromosome test (PTEN).
Not that any of this makes a damn bit of sense to me, but at least I have some things to look up now.

All I do know...I am frustrated to tears. I lost it when they put the IV and catheter in today. Not so much because she was screaming, but because I have had enough.
Saw the uroligist today as well. Mentioned that he has not seen Sara's bladder have anything in it yet....in any of the pictures taken. So we are testing bladder function next week.



New pics of Sara...







And Sara playing with Zia, out pit/lab.

[secondgearscratch]

my thoughts and prayers are with you and youre family man.

what does all that mean in lamens terms? atleast she looks cute and is playful.

[DanWS6]

my thoughts and prayers are with you and youre family man.

what does all that mean in lamens terms? atleast she looks cute and is playful.

To me it sounds like the docs still don't have a damn clue.

[Mr. Luos]

Basicly....it means a lot more doctors visits. They are ruling things out, which is a plus I guess.


Poor girl has racked up more medical bills in 7 months of being here than I have in my 28 years...

[secondgearscratch]

To me it sounds like the docs still don't have a damn clue.

thats gotta be the worst feeling in the world. im having a hard time thinking of what to say. all i can come up with is im praying and good luck....but it doesnt seem like enough.

its bull that these things happen to kids. i cant stand hearing about it. unfair.

[secondgearscratch]

Basicly....it means a lot more doctors visits. They are ruling things out, which is a plus I guess.


Poor girl has racked up more medical bills in 7 months of being here than I have in my 28 years...

does she have alot of daily pain or is she as happy as she looks?

[Tnhillbilly]

Hey there, Thanks for the update! I still think of you'all and pray for you'all all of the time. Hang in there guys and god bless!

[TITAN95]

To me it sounds like the docs still don't have a damn clue.

no shit ....what fuckin good are they anyway? I hope everything starts to work out for you and your family man.

[Mr. Luos]

does she have alot of daily pain or is she as happy as she looks?

No pain what-so-ever. The only good part about it.

She has no idea what problems she has. Yet.

[Nastyfoot]

She looks content....and kids grow at all different rates, not always symmetrical either.But it eventually all catches up and comes together perfectly.

Hang in there. And as always, she's beautiful

[ArcticZ06]

I don't know what half of that stuff means but I'll keep your family in my prayers. Keep us posted man.

[ss~zoso~ss]

luos, whats the problem with her, i remember she had a swolen foot or something, is this the same issue?

[Mr. Luos]

luos, whats the problem with her, i remember she had a swolen foot or something, is this the same issue?

Foot is a problem still. That is the hemihypertrophy.

She is also retaining fluids on her kidneys. Believed to be her bladder at this point (after today) and we are testing that next week.

Recently she developed several spots that look like bruises. Those are the cafe au lait macules.
Might be something different, might not be.

[ss~zoso~ss]

i'm sorry to hear this, your family will be in my prayers

[Speedy_Gonzales]

my heart goes out to your family.......may God touch that precious child

[joerockhead]

Bro, Doctors Are Idiots!!! Seriously!!

When I was an infant, they told my mother I was a Mongloid. I would Never be able to walk, and if I lived past the age of 10, I would be lucky to speak.

Well, other then my short Neck and Giant Head and a slightly enlarged heart, I am just fine.

My point is, do not let these morons get you down! Your daughter may have some issue, but look at that smile!!! She looks so happy there!! Keep giving her the love you do, and you two and she will be fine!

Help her to grow and prove those overpaid imbeciles WRONG!

[94z28l]

Bro, Doctors Are Idiots!!! Seriously!!

When I was an infant, they told my mother I was a Mongloid. I would Never be able to walk, and if I lived past the age of 10, I would be lucky to speak.

Well, other then my short Neck and Giant Head and a slightly enlarged heart, I am just fine.

My point is, do not let these morons get you down! Your daughter may have some issue, but look at that smile!!! She looks so happy there!! Keep giving her the love you do, and you two and she will be fine!

Help her to grow and prove those overpaid imbeciles WRONG!

+1 i was supposed to be blind after i managed to put a coat hanger into my right eye at 3 years old but i've got better than perfect vision, hang in there man it'll get better. she does look happy tho and seems to enjoy the dogs

[1fastcamarosss11]

lymphedema, my wife has this is you need to talk pm me, i'll get you my number. she has had this since birth.

[Firebug]

Hey Luos, a lot of big words in there for but a humble aussie, but sounds to me like it is something no baby girl, or parent shoud have to go through. Hang in there mate, be patient and have faith in your doctors. I love kids and feel very saddened to hear when they are crook.

Her head may just be bigger that usual because she is proud of her supportive parents...

Keep us posted man..

[Spaz]

hang in there curtis... you and your family are in my prayers still... never give up!!! if you ever need to vent we are all here for ya bud...