Genetics Appt at Stanford..

WoW....  Today was a very eye opening day!

They are testing Joey for a couple of things.. One of which is Russell Silver Syndrome.. As far as I know, it's good to know that although this is a genetics disorder, and has some negative problems that come along with it, such as the ADD/ADHD in Joey's case, the learning disabilities, growth hormone deficiencies, having a big head, and more, it will NOT SHORTEN his life span, and it is NOT a disorder that you can DIE from.. (As far as I know.)

You hate to want your child to have any disorder, but if Joey turns out to have this one, it does mean a little ease knowing that  at least it is not one that will take him away from me prematurely, and even though he will struggle  with behavior, and will still be short, and will still have learning difficulties, he could lead a fairly "normal" life.

(I am still learning about this, as this is all new to us, so there may be more to learn, but this is some of the things that I have read as of tonight.. I have "googled"  and am researching it, and am hoping a praying for the best for my brave little man.)

Joey still has a lot to face as he has to be referred to a crainiofacial clinic to address the extra tooth that is prohibiting his Adult front tooth to drop. He is going to have to have surgery to remove it. (This makes his 5th surgery procedure.)

He also has to get a referral to an ENT as on of the cysts are growing back, and he too may have to have a surgery to remove that one as well. (Number 6??)

They are going to be monitoring his hypoglycemia, and helping to educate me on how to help him with managing this. (About time)

He also has to get a referral to have an ultrasound done done on his kidneys to make sure they are functioning properly.

And last, but not least (as if that wasn't enough).. He has to go see a hearing specialist to check out his hearing due to his cysts.


As for Miss Chloe.. I just thought they wanted to bring her in to help diagnose Joey.. Well what a shock I got when they told me that they think she too has some form of a genetics disorder..  I don't remember the names exactly, but this is what I was told. Chloe's shyness, her ear-pits, her facial feature (big ears, and slanted/crooked eyes, and teeth) her lean-ness, her learning disabilities, her continuing kidney infections, her tonsils and adenoids that were taken out due to multiple infections, etc are all factors in a few genetics disorders.

They are checking her high resolution karyotype (to look for differences in chromosomes) And they are doing a Fragile X testing (which is a specific condition, which in normally much more serious in boys than girls)

This is for the Fragile X Testing.. A list of what she could have if she is found to have one of these abnormalities in her Fragile X Testing..

Chromosomal abnormalities that lead to disease in humans include:

• Turner syndrome results from a single X chromosome (45, X or 45, X0).
• Klinefelter syndrome, the most common male chromosomal disease, otherwise known as 47, XXY is caused by an extra X chromosome.
• Edwards syndrome is caused by trisomy (three copies) of chromosome 18.
• Down syndrome, a common chromosomal disease, is caused by trisomy of chromosome 21.
• Patau syndrome is caused by trisomy of chromosome 13.
• Also documented are trisomy 8, trisomy 9 and trisomy 16, although they generally do not survive to birth.

Some disorders arise from loss of just a piece of one chromosome, including

• Cri du chat (cry of the cat), from a truncated short arm on chromosome 5. The name comes from the babies' distinctive cry, caused by abnormal formation of the larynx.
• 1p36 Deletion syndrome, from the loss of part of the short arm of chromosome 1.
• Angelman syndrome – 50% of cases have a segment of the long arm of chromosome 15 missing.

Chromosomal abnormalities can also occur in cancerous cells of an otherwise genetically normal individual; one well-documented example is the Philadelphia chromosome, a translocation mutation commonly associated with chronic myelogenous leukemia and less often with acute lymphoblastic leukemia.

I have not had the time to look into all of these possibilities yet, but will be doing reasearch. This has me thrown so very off guard I just don't even know how to feel. You go in thinking you are going to finally get some answers after 10 years with one child, and come to find out your other one can have some pretty serious stuff going on too.. 

Chloe also has to get a referal to do a kidney ultrasound, and do the hearing tests as well.

They also want me to have the school do a formal assessment on her to see where she stands academically.

So that is my day.. I didn't get home till about 6pm.. (between the long Doctors visit, and then labs (Chloe had to be held down she was so scared) and stopping to get the kids lunch, and the traffic back and forth (which was a MESS) it has just been a long day.

I hope you all have had a great day/night.. I continue to THANK YOU ALL for your SUPPORT and LOVE and CARING for me and my family (even when it is not WLS related)

Please continue to keep my family in your hearts, prayers, or sending ju ju, well wishes, etc.. what ever it is you do, I appreciate it so very much..
You are always in my thoughts, heart, and prayers..

I have got to hit the hay..

Hugs,
~Jenn~
 

Jenn,
I have a nieve with Turners Syndrome. She is short for her age. She has done growth hormones. She goes down to Childrens Hospital in LA. They  have told my brother and his wife that she is probably sterile. She is now a sophmore in high school. They screen her for cardiac problems and renal problems. I hope that all turns out well for Chloe.
Hugs to you
Liz

Hey Liz,

Sorry to hear about your neice. It must be hard,  but sounds like she has a wonderful supportive family, and is doing well despite her condition. 

I will keep her in my thoughts and prayers, along with her family..

I too hope everything turns out well. It's in God's hands, and I just have to have faith that everything will be okay, no matter what the outcome is.

Thanks for always being there for me when I need an encouraging friend.

Hugs,
Jenn

Jenn,


What a day you all had. I am surprised you could keep straight all that they told you. I hope you can get some answers. I am sorry to hear that Chole may have problems too. How distressing for you. You are all in my thoughts and prayers. We are here for you, if you need anything.

Eileen

I had them write down the explinations, (cause you know my memory) so that I could let the DH know what was going on.. LOL 

As for Chloe, this totally came out of left field.. She has had issues of course with her Kidneys/Bladder and her Tonsils, but other than that, she has been a pretty healthy girl..  So for me to hear all of this, WoW, I was amazed, shocked, concerned.

I really appreciate all your prayers and support..

Thank You..

Have a great Tuesday..

Big Hugs,
Jenn

Jenn,

Chloe and Joey and the rest of the family are in my thoughts and prayers.  It sounds like they have the very best of medical care and you are in one of the top medical centers in the world, so they will get the very best and you will have answers and leading cutting edge medical care too.

Hugs girlfriend, I am here for you.  Give those cherubs all hugs for me!

Barb

Barb,

Oh it is very comforting to know that we are in a great place, with great doctors. I know that even if we get results that we may not want to hear, that God is with us and he doesn't give us anymore than we can handle. (although sometimes it feels like he overloads us at times)

It is never easy hearing that there could be something wrong with your children, so I just have to wait and see, try not to stress (hahahah yea right) and see what is in store my my babies..

Thank you Barb for being so kind, and being there for me when I need support. You are an angel..

Have a great day hun..

Hugs,
Jenn

I hope you have sweet dreams tonight and know that you and your family are in my prayers. 

Carol

Jenn,

you and your family are in my thoughts and prayers as well.  Keep the faith and you should get the answers soon.

Julia

Hey Carol,

Well, I didn't get much sleep last night. You know they tell you not to worry, and you tell yourself not to worry, but how the heck do you stop yourself from worring?? 

Well I am off to my Women's Bible Study Group..  I really appreciate your prayers. Thank you..

Have a terrific Tuesday.

Hugs,
Jenn