A whole new world

The end of January we were at our Pediatrician's office for a well-child check-up for Austin and Zack.  While there the Pediatrician didn't like how Hannah was moving her extremities (she felt like she was posturing) so she said she wanted us to go to a neurologist to make sure she didn't have CP.  I immediately went home and was able to get us an appointment for the following Tuesday which was amazing considering they were booked out until May.

At out appointment with the neurologist she agreed that Hannah had low tone and seemed to be doing some posturing, but otherwise she didn't know what that meant.  So she ordered a bunch of genetic tests to be run and said we would just go from there and every 6 weeks or so we would send a whole other slew of tests until something came back or until we got tired of doing them.  I didn't think much of it; I felt like if she had something it was probably minor or we could fix it, but most likely we would just never find anything and she would catch up and be "normal" within the year.

Because she had some questionable hearing tests we went and had a sedated hearing test done on February 14th and while there we sent all of the labs the neurologist had ordered.  We found out that day that Hannah has moderate hearing loss that they believe is temporary caused by fluid in her middle ear.  We went and saw an ENT a couple of weeks later and scheduled surgery for tubes to be placed.

She is a horrible IV poke!  We never get away with less than 5 pokes.  Because they had to send all of the labs for genetic testing it didn't help.  Today took 5 pokes, the IV team felt bad so they made her a bow over one of the wraps.

This is during the ABR (sedated hearing test).

The hearing test is over.  We were just waiting for Sleeping Beauty to wake up.

On March 4th we went and had the tubes placed.  The surgery went great and we were in and out of there in about 2 1/2 hours.  The ENT said she had really thick mucous stuff in her middle ear so he is very hopeful the tubes will drain it and her hearing will improve. 

Right before they took her back to put the tubes in her ears.

About an hour after getting home I got a call from her neurologist.  I heard about the first 10 words out of her mouth and that is all I remember of our 10 minute conversation.  Our world dropped out from underneath us. 

We found out that Hannah has 1q44 deletion syndrome.  It is extremely rare and there is hardly any information on it. Some of the current things she has that are part of the syndrome are:

• global developmental delay
• butterfly vertebrae
• small hands and feet
• microcephaly (she's starting to develop this)
• small stature
• feeding issues
• hearing loss caused by middle ear fluid (ear glue)
• eczema
• cyanotic hands and feet
• "slap" patches and mottled skin
• happy and easygoing

Some of the things that she could develop that we are hoping she never does:

• seizure disorder
• nonverbal
• intellectual disability
• ability to eat, crawl, be potty trained
• breathing problems

That is just a small amount of information that we have been able to figure out in the 6 days we have known about it.   We won't be able to meet with a geneticist until July, but I don't know that he will be able to give us much more information.  We have found a Facebook group with deletions similar to Hannah's, but it's so rare that it's a bunch of genetic disorders grouped together.  The group has been great for support and just learning general information, but it has been hard because I don't want to belong to them.

She has been in early intervention since November and has been receiving physical and occupational therapy since January so we will just continue on with those because that's about all we can do.  We fall more in love with this little girl everyday and have great hope that she will be happy and as normal as she can be, but at this point only time will tell.

Who couldn't love that face?