Thursday, February 28, 2008

SOMEONE won't take a nap today!

I won't say WHO...

Anyway, I can't believe the little guy is six months old. SIX months! Where does time go?

I bought him a new "critter clip" to keep his hearing aids from falling off at random intervals. Nolan thinks they make a tasty snack, and his brother thinks they're fun to play with. Most hearing aid clips are sort of "blah," but this company makes really cute ones!

This one, by the way, is called "dogzilla."

Wednesday, February 27, 2008

March Doesn't Look Any Better Than February...

I was really, really hoping that the doctor appointments would slow down once we hit early March (I only had Nolan's CT scan and six month well-baby visit scheduled). I should have known better!

I went to the ENT today and she checked Nolan's ears for fluid. Apparently, my mantra of "fluid be gone" did no good and he has fluid in his left ear. Since he's had fluid in at least one of his ears since January 9th, and one ear infection to boot, the ENT scheduled same-day surgery on March 27th to place PE tubes. We'll go in on the 26th of March, and if by some great and wonderful miracle the fluid is gone, we'll cancel the surgery. If not, we proceed.

The one thing that makes my mommy-freak-o-meter begin to ring is the fact that Nolan will be sedated twice in a short period of time: once on March 18th for the CT scan and again on March 27th for the PE tubes.

I also had the genetics bloodwork done today- they are testing exactly what I thought they would be testing (thank you, Dr. Google) and his blood has been sent to Boston University for Connexin 26 testing, Connexin 30 testing, and the mitochondrial A1555G mutation testing. It will take 4-6 weeks to get results back, so we should know by about the time Nolan has his tubes placed.

One thing the receptionist at the ENT mentioned was that the guys doing the CT should give us a CD of images, and to bring that to the pre-op appointment on March 26th. Don't think I'm not burning us a copy of that bad boy! Nolan's medical file is beginning to take over the better part of a file cabinet drawer!

The schedule as it now stands:

February 29: Earmold impressions
First week of March: Pick up earmolds
March 7: Nolan's 6 month well-baby check
March 18: CT Scan (sedated)
March 26: ENT appointment
March 27: PE tube placement (sedated)

Maybe April will be a nice, quiet month...

Monday, February 25, 2008

We've Got Goals, Baby!

I had my IFSP meeting for Matthew, and we put goals into place for the next six months. His official diagnosis is a severe articulation disorder with a moderate receptive/expressive language delay. His receptive delay is mild, and probably registered poorly because he was not in the mood to cooperate with the examiner. He didn't show an understanding of pronouns or the correct use for objects (he fed the bear with a spoon in a cup- unfortunately I always use a spoon in my coffee mug and he imitated this. Oops!). His expressive was moderate, his pragmatic use of language was severe, and his articulation was severe. That's the bad news.

The good news? He gets speech therapy, twice per week! His goals for the next six months are:

  • Increase core vocabulary

  • Demonstrate understanding of pronounds and simple descriptive concepts

  • Imitate words

  • Produce consonant-vowel combinations

  • Decrease frustration when not understood

  • Increase amount of signs to match receptive language

  • Add consonants to vocabulary

  • Increase word approximation consistency

  • Increase word clarity

The simple idea of my 2+ year old being able to imitate words has me all a-twitter. I know it is a process, but I really can't wait until he calls me "mama." I've been waiting a long time.

Friday, February 22, 2008

Maybe a Ma?

Nolan was crying last night, and I swear I heard a "Maaaa!" in the cry. The beginning of babble? We shall see!

In the meantime, he gets to chew on his super-yummy flavored tongue depressors, the ultimate reward for him in speech therapy. Nothing can get him to open his mouth in an "aahhh" shape like holding up a piece of cherry flavored wood! Now we just need to get some voluntary sound out of him. He often won't verbalize at all during therapy, and saves his squeals and "AAAAHHH" noises for an hour in which the rest of us would like to be in bed. Kids are strange, strange creatures!

Wednesday, February 20, 2008

Setting Earmold Records!

I picked up Nolan's 5th set of earmolds on Tuesday. I have a feeling Emtech (earmold company) is regretting their re-make policy by now! The wings are gone, but now there is a gap between the mold and the side of his ear. Darn! We'll be going back on the 29th for new impressions- earmold set number six. Hopefully we'll get a better set this time! In the meantime, I'm having some trouble keeping his aids in (especially the left one). Thank goodness for pilot caps.
The weather was rather miserable (in the teens with high winds), so I didn't venture over to the hospital for the genetics bloodwork. Instead, I will do it the morning of the 27th, since I have to go up for an ENT clinic on that day. Nolan has had fluid in his ears since January 9th (at least) and has had one infection. Hopefully the infection is gone (I'm pretty sure it is) and I hope the fluid is, too!

So the remaining schedule for this week and next is:

Today (the 20th): Speech Therapy and playgroup (I didn't make playgroup)!
Thursday (21st): Pediatrician appointment (check ears) and MOPS
Friday (22nd): Speech Therapy
The weekend: Absolutely NO appointments! Yay!
Monday the 25th: Speech Therapy and EI wrap-up meeting to put Matthew's IFSP into place.
Wednesday the 27th: ENT appointment and genetics bloodwork
Friday the 29th: Earmolds!

Monday, February 18, 2008

Free Magazine

A wonderful lady at my church (who is always giving me issues of her hearing loss magazines) told me about a free magazine subscription. Hearing Health is totally free- I'm going to subscribe. I love information, and free information is even better!

Friday, February 15, 2008

Insurance Approval For Genetics

Hey, an insurance battle I didn't have to fight! We are approved for the genetic testing on Nolan.

I looked up the tests run by Boston University (where Nolan's blood will be sent), and their standard deafness panel consists of: Connexin 26 direct test, Connexin 26 sequencing, Connexin 30 direct test, and Mitochondrial A1555G Mutation.

I'll probably take him up on the 19th for the blood tests, since I have to pick up (what else?) earmolds anyway. This is a case of hurry-up-and-wait, since the tests take 4-6 weeks to process. If there is a positive result, the lab in Boston will call the geneticist. If there is a negative result, then the test data is snail-mailed back to the geneticist. I hope it is one of these, since they are non-syndromic. At least we can rule them in/rule them out!

Tuesday, February 12, 2008

Beware Strong Winds!

I went up to get earmold set #4 (along with my trusty friend K, who has been on more trips to BHSC than any good friend should). We had the earmolds remade in the hope of losing the extra "lip" on Nolan's left earmold. No such luck! We took new impressions and I will go up again on February 19th, to get earmold set #5! In the meantime, I'm keeping the boy out of any high winds- he might just fly away.

Big brother gets tired out from the frequent doctor appointments. He's a real trouper, but it is pretty evident when he's worn out. It is 5:00pm and here's his current state of being:

Saturday, February 9, 2008

Geneticist- More Questions than Answers

After getting to see the geneticist (who must have been nominated for the "world's worst bedside manner" award), we're left with more angst and questions than anything else. Nolan, in addition to hearing loss, has an atypical face. His mid-face is recessed a tad, his forehead protrudes slightly, and the back of his head has become wide and flat. Our ENT was duly concerned and sent us to the geneticist as quickly as possible.

The geneticist walked in and asked if I had any concerns. I told him that I wasn't as concerned about the hearing loss, but the frontal bossing was making me a bit worried. He rolled his eyes and asked where I had heard that term. I had to remind myself not to let him know that I worked as a biochemist in an in vitro diagnostic plant specializing in molecular diagnostics. This really tends to set these guys on edge. I simply said the ENT had called the protruding forehead "frontal bossing" and that it might be an issue.

He went on a mini-tirade about how severe "real" frontal bossing is and that we should be shown pictures of children with severe facial deformities. I was taken aback- all I know is what the ENT had told us, and that was that Nolan's head did not have normal characteristics. He said that Nolan was a beautiful face and said that his head stuck out because he had a big brain on top of delicate bones. Adjusting to the third grade level terminology, I asked if his "delicate bones" would recover normal structure as he got older. The geneticist was evasive and said people with delicate bones looked younger longer. That midface hypoplasia made their faces cute. When he let the word midface hypoplasia slip, I thought, 'how can you say "normal face" in one sentence and then "midface hypoplasia" in the next???'

He then went on to say that kids with real frontal bossing can have mucopolysaccharidosis (DON'T google it. Trust me). He asked if Nolan had a big head. I said I had no clue. He then measured it, and said big heads must run in our family. Then he took off Nolan's socks and looked at his toes and said, "no webbing." Gee, like I wouldn't have said something about THAT if he had it! He looked in his eyes for a long time, and that was it. He said Nolan was a normal baby and he'd order the tests. Then he left.

I have no idea exactly what tests he ordered (when I asked the genetic counselor she said, "you know, tests for those recessive genes for deafness"). Thoroughly frustrated, and still having no clue what could be a problem when he has "midface hypoplasia" and reverse-slope hearing loss, I was far more stressed out leaving the office than I was when I walked in. My wonderful husband is going to call the office to see what tests they are going to run, so that I don't have to wait for the approval (or denial) by the insurance company to find out.

This doc definitely wanted to pat parents on the head and not worry their silly little selves about anything. Egos like that drive me crazy. Our ENT is one of the best in the nation, and she is always forthright and seems to truly care.

Now I'm stressed that the geneticist is overlooking a syndrome, or suspects a syndrome and isn't telling me. Is it Hurler's? If so, it would be better to know now. Is it Stickler? Is it non-syndromic and he just has a funny head? Again, better to know now. I'd rather know what I'm up against than to be led along the path to diagnosis blindly.

In the meantime, we have to wait for about 2 weeks for insurance to either approve or deny the blood tests. The tests are then sent to Boston for processing, so we won't have the results back for some time. Even then, a negative on all the tests doesn't mean that Nolan's hearing loss isn't genetic. It just means it isn't one of the genes they are testing for (though I have no idea what those are).

Our CT scan is on the 18th of March, and that may tell us a lot about his head and face. I also see the ENT on the 2th of February to see if the fluid in his ear has cleared up. He has a nasty cold and ear infection now, so things aren't looking good for the whole fluid-in-the-ear thing.

I'm really not good at waiting. Especially when I don't know what the next step is, or what I'm waiting for!

Passing by Failing

Matthew had his Early Intervention evaluation for speech and language. I was really worried that he would not qualify due to his receptive language skills, even though he can't talk. The speech language pathologist arrived and Matthew was in a quite "busy" mode, not really answering the questions for receptive language. This really worked in our favor, as it kept his receptive language at a 22 month level (he's almost 26 months old). That's in the normal range, but didn't kick his total language score out of the ballpark. His expressive, with 0% intelligibility to a stranger and only 6 word-like phrases (apparently "ewwww" and "oh" don't qualify as true words), registered at a 12 month level. This kicks him into the severe range for speech. With a moderate language delay and a severe expressive delay, he should qualify. The lack of progress with his receptive does keep me cautious about hearing loss with him, though I know we had him down to 20dB in a soundfield.

At least we can start getting help for him. It's really depressing when I drop him off at the 2 year old room at MOPS and all the other 2 year olds say things like, "look! Radio's broken!" and Matthew only says something that sounds like, "favahfafa!"

Monday, February 4, 2008

You've Got Mail!

Today we received a wonderful present from our friend Mari! What could be inside????

Cool new hats! Pilot caps are awesome. So are nice friends!

Saturday, February 2, 2008

Going For Our 4th Set of Earmolds!

We went to pick up Nolan's next set of earmolds, and they didn't fit. Not too small this time, but too big! I think the earmold company mis-cast them, or the impressions weren't quite right. The ear canal section on the molds was HUGE. Our most excellent audiologist pared them down with a scalpel (I told her she should have become a surgeon- she said she can't stand blood, lol).

She also called the earmold company to tell them they needed to get re-made. We will have new earmolds next week- our fourth set in 2 months! In the mean time, we'll make due with the chiseled earmolds. She also bumped his hearing aids up to full volume (I thought she had done that last time). He's up and running now- doesn't seem to mind the volume increase at all. I did have the computer speakers on, though, and the music from Jodi's blog made him jump and cry! I have to remember to turn those speakers down!

Now we're just waiting for him to get old enough to get behavioral test readings. Hopefully by the time he hits six or seven months we'll get him in a booth. The other thing I'm waiting for is the start of babble. Babies with normal hearing start babbling by around six months, so I'm eagerly watching and waiting. Come on, Nolan- give us a "dada!" Or, more preferably, a "mama!"