Tuesday, January 19, 2010

genetics appointment


I had a genetics appointment today with Jax. We have never been able to talk to genetics after his trisomy 21 diagnosis because Jax was constantly in the hospital. I knew that he had a rare form of trisomy 21, so thats why I wanted the appointment.
It was quite the learning experience for me. Jaxson has robertsonian translocation trisomy 21. That only happens in around 3 percent of all trisomy 21. 95 percent is nondisjunction trisomy 21. Now I'll try not to lose you and explain this. In most translocations, the third 21 chromosome attaches itself to the 14 chromosome. In Jax rare case, his third 21 attached itself to another 21. So in reality, he only has 46 chromosomes, not 47, because they are attached. Isn't that crazy? He has trisomy 21 but has 46 chromosomes! This is also the one trisomy 21 that is inherited. Either me or Ray would have 45 chromosomes. One of our 21 would be attached to 14. It has no affect on us but makes us carriers. But because we have 3 healthy kids, and no history of miscarriages, he thinks we are ok, that Jax defect was a fluke. So once again Jax writes his own medical book. He also said that in his 30-plus years in genetics, he's never seen a down syndrome child with this severe of medical problems live as long as Jax. He said they usually pass away before their second birthday. And he knows we've had a couple of close calls, and calls him a true miracle! I know Jax is a miracle, but to have a genetics doctor tell me he shouldn't be here just blew me away!
Also his pulmo called while I was in the clinic. His sleep study is ok. The only thing is his EEG still looks horrible. So he seizes all night. The bad news about this is that gives us no explanation as to why he wakes up so much at night. And no relief in sight. I'm now wondering if this constant seizure activity is contributing, so thats a whole new avenue we will have to pursue, because so far his seizures have been untreatable. He is on 3 seizure meds and the ketogenic diet. So although I don't see many visible seizures anymore, his brain is still constantly seizing, so in effect its slowly killing the brain.

25 comments:

The VW's said...

Jax is definitely a miracle and a rare gem! I had never heard of this type of Down syndrome before.....very interesting!

I bet the seizing is what is waking Jax up. When Gavin was having seizures he woke up a lot at night. I pray that Jax's seizures can get under control one day soon!

Cute picture of Jax sleeping! Love and Hugs!!!

Alison said...

Of course Jaxson is a miracle!! We already knew that. Sorry to hear about the seizures. I really hope the doctors can find some treatment that works.

Kristin said...

Amazing - can't wait to see you & Jax Friday - did you email me for directions? You are coming, right? (I can show you some girly bows!)

Team Carter Jay said...

We were there today too!

I love the pic of him. What a cutie, and very interesting about his chromosomes.

ANewKindOfPerfect said...

What an interesting appointment! Jaxson is definately unique. :) I'm sorry to hear about the crapp EEG results. I imagine tht the seizures are waking him at night? I know that they wake up my Peanut. We go to the neurologist on Thursday, we are still having a lot of break through seizures too. I hate seizures!

Emily said...

Jax is an absolute miracle. Life wouldn't be the same if I wouldn't have met him!

Jessica said...

The last sentence of this post is a really harsh reality. Lacy I am not sure where you find the strength to keep going. You have such a big heart and so much to offer. No wonder Jax is the miracle boy that he is. He has you as his momma and cheerleader. You are very inspirational to not only me but all of your blog readers.

I am glad that you had the chance to meet with the specialist. How interesting!

PS I took your advise and got a day planner to write every thing down on. Thanks

Kim Rees said...

Jax is definitely a gift Lacey! Will keep him in my prayers that this seizure activity will get under control and that he will in turn sleep better at night. I also will keep you and your family in my prayers as I know this has not been an easy journey for you yet you remain strong and always positive when it comes to Jax. Thank you for being such a great role model to us all!

Phoenix's Mom said...

Big hugs miracle boy! Thank you for coming into our lives!

Dotty said...

jax is awesome, a true miracle for sure. thanks for the lesson on his rare type of down syndrome, always intresting to learn new things:)

so sorry that the seizing is still going on, i pray they slow down and end. hang in there momma!! your doing wonderful.

Heather said...

Love to you and that miracle boy.Great talking to you today.Can't wait for your visit.

Tina said...

Wow thats such interesting information, he certainly is "the miracle child" and a constant reminder to us of Gods hand in everything around us. I'm so sorry to hear about the EEG results, I know you knew what was going on with him but one always hopes for a miracle, but you already have your miracle and Jax will continue to amaze and inspire all of us. I will continue to pray for him, I pray that everyday his health improves and I ask God to please keep him safe.

Sasha said...

Wow that is a heavy meeting you went to. To say that most children aren't around after 2 must be crazy to hear. Way to go Jaxson you are a true miracle. I hope they can figure something out about his seizures and that he could sleep through the night.

Anna- the mother and author said...

I've been a reader for awhile but this is my first time posting. Your blog is fantastic, and Jax is amazing!

My son Miles has the same form of Ds- the translocation 21 +21. My husband and I were tested following his diagnosis because Miles is our only child. As far as we can tell, neither of us are carriers.

Best of luck!

Becky said...

WOW! What a mouthful to swallow. I'm sorry that meds and diet aren't helping him more...

Did you get night nursing yet? If so, is it helping YOU any?

jjpsmommy07 said...

Very interesting info. thanks. Love the picture of Jax sleeping.

Erin said...

Hi Lacey, I haven't been keeping up with the blog world, I am so excited you are hopefully getting your little girl so soon! I noticed your comment on Becky's blog about the fontanel surgery. Is it the same type of situation that both Arianna and Charlotte had? Charlotte's surgery went wonderfully, and her front fontantel had closed very early.
I'm glad Jax's sleep study went well, but am so sorry about the seizure activity.

Michelle said...

Do you read Christina's blog "Prince Vince" ? Vincent also has Robertsonian translocation. What a little miracle Jax is - he just keeps on fighting!

Sorry for no real answers/solutions from the sleep study!

Tausha said...

Wow, that is really interesting, I have never known that. Jaxson is definitely a miracle and it's because he has such an amazing Mom that takes such good care of him, along with his Dad and brothers. He is one lucky little boy. I hope the seizures can get under control as well.

Anderson Family said...

That is interesting about the type of down syndrome - and of course Jax is a miracle!! He is one awesome kid who has wonderful parents and amazing brothers (and hopefully a darling little sister very soon. I don't have any advice on the adoption topic either - sorry. Hopefully you can find some answers about those seizures so he can sleep better. Cute stuff you have been finding to buy! Girls are so much fun!

stephanie said...

Of course Jax would do it all his own special way. That's what makes him the miracle he is. Give him a big hug from me tonight.

Junior said...

Jax you are a little miracle boy, keep up the fight little man.

Lacey, I don't know how but yes the bipap is now working to keep Junior's airway open at night without the oxygen. For over 2 years he has needed at least a liter and usually 3-10 liters through the bipap. We have no explanation as to how it is possible now when his lungs should be worse.

Stephanie said...

Love to you all. What an amazing little guy Jax is, with an amazing family too! :) Will be praying specifically for some treatment for the seizures, and for a new little sister SOON! :)

Hugs to all of you!

Steph and Christopher.

P.S. Fontonel surgery? Christopher is 6 and his still hasn't closed yet. Of course, it started out as the entire top of his head! They tried several times to dx him w/ anancephaly. :(

Maureen Claypool said...

Jax - you are amazing!! That is so interesting, Lacey. I've heard of the transolocation ds, but did not know that there were different kinds of tds. We will continue to pray for Jax and more miracles to come!!

sturpin said...

goodness - well we knew Jax was amazing. The seizures, though, break my heart. Poor sweet little man.