Intro

LAD0604

Hi,

 

Not sure where to start, but I wanted to introduce myself.  DH and I have been married for almost 6 years. Gave birth to DS four months ago and he was just officially diagnosed with branchio-oto-renal syndrome yesterday (BOR). Which is characterized by hearing loss, ear anomolies, neck cysts/fistulas and/or kidney abnormalities  Myself, my mom, and sisters all have BOR as well, so I'm not overly surprised by the diagnosis since it is an autosomal dominate condition. Somehow or another I thought that I was mentally prepared and that this would be no big deal, but yet it still stings.We are so fortunate that thus far he appears to have a mild case (no kidney abnormalities or cysts/fistulas), but we are still in the process of learning about his hearing function.  He passed his newborn hearing screening in the hospital, so in all likelihood the hearing loss is minimal at this time.

I have a hearing loss and I'm even an audiologist so I get the hearing loss component, yet I'm learning how different it is to be on the other side.  I look at our LO and see the best in him and all of his abilities.  To us he's just our perfect little guy.  So, it's hard to go to the appointments and listen to the very clinical medical discussions about the things that could be or could of been wrong, along with a healthy does of well you of all people should know what the risks are.  Perhaps it just touches a personal nerve as I get the proverbial finger shake at each appointment. We are warned over and over that if he does have a hearing loss how it could limit him. It's a bit hard not to laugh and cry at the same time when I sit there in front of them with the same condition and notice little impact on my day to day function other than having to wear hearing aids.   

If you made it this far thanks for reading and I look forward to getting to know you all a bit better.

JaysonandKristin

I look at my DS1 everyday and see straight past his biological "shortcomings."  Having him first means that I had nobody to compare him to.  There was no bar already set by siblings, so in my eyes he's perfect.  

I can tell how much your heart bursts with pride just from this short post.  Don't ever lose that.  Medical professionals are looking for every possible diagnosis just to cover their asses.  It's never going to end.  He will likely never receive a clean bill of health.  You will have follow ups and possible treatment plans for what seems like forever.  But, on the day-to-day, your home is a safe haven from the sh!tstorm that seems to ensue every time you walk into a doctor's office.  Keep that safety...

I truly wish you the best of luck.  I know my DS1 was the ABSOLUTE best thing that has ever happened to me.  I am so incredibly lucky that I got him.  

Just a side note:  My son's birth defect is part of the VACTERL spectrum.  When the cardiologist came to look at his heart, he said, "Now THAT is a beautiful heart!"  All I could think was, that's all any mother can ask, right?  And, I didn't mean that in a biological sense.  My son has the biggest heart...  I am so proud of him.  ::tearing up::  

Assembly_Reqd

Welcome!

I also have a son with hearing loss who has been aided since 3 months old. I don't get why they are giving you issues about the potential hearing loss? Did you follow-up the hospital screening with an ABR? I think it would be worth it to do an ABR to just to be sure and also to have a benchmark in case there could be degenerative loss in the future.

Nate has mild/moderate loss and even though someday he may refuse to wear them, we decided to aid him at three months old so that we knew he had as much access as possible to sounds. He has other issues affecting him caused by genetic microdeletions and we wanted to be able to judge his developmental progress (speech in particular) from a level playing field. Aids level the field for us.

We also go to our local school for the deaf.(Maryland) They have an awesome family ed program that starts at 6 months old. Nate goes Mon & Fri mornings into a class with other infants/toddlers and I meet with the parent group on Mondays which is like a discussion group and on Fridays we have an ASL class. Our school is a bilingual educational experience and they work on speech and sign. Our parent group would love to have someone like you there to share your experiences with hearing loss! Maybe this is something you could look up in your area.

I am sure you will make whatever decision is best for your family. Try not to let the doctor appointments get you down. They are tough for the first year or so until you get a complete picture of the challenges your son has. Good luck and Welcome again!

LAD0604

Thanks ladies for the welcome!  It's nice to hear from other that are walking a similar path and to read about all the positive strides that are being made.  I am getting further confirmation on his hearing in a few weeks.  We have a CT and ABR scheduled to get a better idea of his hearing levels and to look for structural abnormalities.  A little nervous about the sedation, but I'm sure he'll do great.