Scan Day

We just got back from Natalie’s new scan for her cranial remolding helmet.  It was very quick.  We’ll go back in a week and a half to get the star band fitted and she’ll be wearing it from then on.  I did ask if it would hinder her progress with physical therapy.  It might take some getting used to but since it weighs only weighs 1 1/2 oz hopefully it won’t bother her that much

Natalie in the waiting room before and this after missing her morning nap!The back of her head on 11/2.

Laying in the scanner.

Natalie with Julia after the scan.  We picked the band with ‘sweet hearts’ instead of camouflage and soccer balls so Zach was not willing to be photographed!

The Helmet Journey Starts Tomorrow!

I am writing now as an amazed and stunned woman.  Some of you know this story but I’m starting from the beginning for any who might be reading from links at Alexandra’s P.H.A.T.E.   What I find so cool about this story is that we really thought it wasn’t possible at all but God had different things in mind for us.

Last Monday, I took Natalie to Level 4 Orthotics to discuss whether she needed a cranial remolding helmet or not.  We’ve been noticing a flat spot for awhile but had hoped it would get better with her learning to sit up more.  Since she is not sitting up yet at 9 months due to some delay in gross motor skills from Down’s Syndrome, it seemed to David and I that the flat spot was getting worse.  Natalie has also loved to look right from the day she was born.  Our physical therapist is always checking to see if she has torticollis and it seems Natalie just likes that side better.  After being scanned, I was told that her head shape was a Level 3 out of 5 in terms of severity.  Below is an image of her head shape currently.  When we started talking about cost, it became clear that it was not something we could afford.  Our insurance has a very high deductible so we would have to pay 100% of the cost.  Natalie needs physical therapy right now to help with her low muscle tone that comes with Down’s syndrome so that had to be our top priority in terms of finances.

I decided to look for help on the internet.  I happened to post on Facebook about it and my sister-in-law suggested looking for a used helmet.  Not sure that it was even possible, I started searching anyway.  I found a group called Alexandra's P.H.A.T.E., a group that, through a partnership with Orthomerica, is able to provide 12 helmets a year.  I e-mailed Gary Tate Natalie’s information.  One week later, I received a call from Level 4 saying that through Blake Norquist, Orthomerica had agreed to provide Natalie with a star band.  We are so thankful and stunned at how quickly this all was orchestrated!  We have an appointment tomorrow to have her scanned again since babies head shape grows so fast.  Can’t wait to take lots of pictures of the process!

Amy

Walk for Natalie

Update: To keep Google from being confused, we are removing references to last years fundraiser and team name.  Please view the 2012 blog entry (http://bit.ly/Mis8tF) and the 2012 team page (http://bit.ly/MirYSZ)

We just decided to start a ‘team’ for the 2011 [fundraiser] in Freedom Park, albeit a little late in the game. Lots of people came up with cute names so I had to go with the alliteration route too.  We decided to go with Natalie's [N---].  We are still new at figuring things out but thought this would be a great way to meet some other families and help raise a little money for Down’s Syndrome.  If you are in Charlotte and would like to walk with us, we’d be glad to have you on our team.  The walk is October 1st in Freedom Park.  There will be kid-friendly events starting at 2.  The walk starts at 4:30 and there is a hot dog supper at 5:30. 
From the [fundraiser] website:  ‘The goal of the Buddy Walk is to promote acceptance and inclusion of people with Down syndrome. Your support will help all people and families living with Down syndrome to enjoy a more successful future.’  More information on the walk can be found HERE.
Here’s a link to our fundraising page if you’d like to donate:  [Natalie's N---]
Thanks for all the love and support we have received with Natalie.  Though we have a long way to go, I can definitely say things are so much brighter today than 8 months ago.
Amy

Good news- the Prunes worked!

Bad news is the prunes worked…

After about one month of minor skirmishes in Natalie’s ongoing battle of constipation, we were back at war this past week.  She started spoon feeding one month ago and was fine for the first 3 weeks.  Everyone told me the constipation would get much worse when she added other foods into her diet and it eventually did.  Thankfully, it has not yet been as bad as a few months ago but we did have a time this weekend that she started screaming when drinking her bottle that reminded me a little of her worst bouts.  So, naturally, I’ve been trying to solve it quick.  I’ve been feeding her prunes for breakfast for almost a week now.  In the beginning, she was actually smacking her lips while eating them.  Now, she’s screwing up her face a bit.  Today, I was at school for a meeting about Zach’s first grade year.  The meeting was over and I could have stayed for lunch with him when I noticed Natalie had exploded.  Zach was disappointed but I had to bolt and get her cleaned up.  Later, after I had picked up Julia, I realized it happened again.  That turned out to be it but I was on eggshells all day thinking I had created a monster!  We are getting an appointment with a gastroenterologist hopefully in the next week or so.  I feel like I’m exhausting all possibilities.

In other news, we had a speech evaluation last week.  Natalie came out as in her age group and in some cases ahead!  Her spoon feeding as really improved and the tongue thrusting is almost gone.  I can hardly tell any difference in her learning to eat from her brother and sister.  Her physical therapist also did an evaluation just to see how her development is rating.  She is now officially behind normally developing children.  We are still working on rolling and she seems to be a ways off from sitting up.  I’m trying to be very rigid about scheduling time to work with her every day in hopes that it will help.  We know have a Zach, Julia, and Natalie homework time to every day!

I also have officially ordered my first T21 supplement.  It’s in the mail so hopefully I’ll have something to report on it the next time I get around to blogging.  I’m trying very hard to work only when the big kids are in school so if I get behind, I have to make it up at night.  Which means, blog gets put on the back burner.  Except when I have appointments, its been getting better so, hopefully, one day I’ll be organized again and have time for extra activities!

Amy

 

 

Ahhhh-va-cahh-do!

We started baby food today!  So, what do you say to get a baby to open her mouth?  Since we are starting with mashed avacado, Ahhh-va-cahh-do, naturally!  Natalie thought it was pretty funny so not only did she do a fantastic job keeping the food in, she got a chuckle out my sound effects as well!  They told us early on that she would probably be difficult to spoon feed because of the typical T21 (my new name for Down’s- sounds more positive to me) low muscle tone and strong tongue thrust reflex.  Don’t know if it’ll continue but today she did great.  Hardly thrust her tongue out at all and seemed genuinely pleased to be eating from a spoon.  I had thought of waiting until next week at the earliest since she’ll be 6 months corrected then but she’s started waking up earlier and earlier.  At first, I was thinking it was the T21 sleep problems starting.  Last week, the naturopathic doctor told me that the oxidative stress that the extra chromosome causes can disrupt sleep.  Today, though, I remembered that waking up early can be a sign of readiness for table food so I jumped in with it.  Hopefully, it will help.

It’s been awhile since I’ve written.  I had spent a lot of the early summer months preparing questions for our 6 month geneticist visit.  The visit was extremely disappointing and I’ve been pretty depressed about it for the last few weeks.  As David says, it comes in waves.  Well, I’ve been in a flood here for awhile, I think.  The geneticist doesn’t really support any nutritional intervention because there are not enough studies on it.  The genetic counselor was basically offended that I even suggest such a thing.  So, after that I scheduled an appointment with a naturopathic doctor to see if he could help.  That one wasn’t so encouraging either.  He didn’t want to do anything until she is a year or older.  I thought that since the first year of brain development is so important sooner would be better.  Of course, the naturopathic doctor is not on our insurance so I’m just sick that I wasted money that I could have used on something else that would of actually help her.  Urggh!

Some good news.  The flax seed oil is working!  Natalie has been able to poop about every other day for a few weeks now.  Once I use up the pills I’m taking for her, I think I’ll go ahead and buy the oil to put straight into her milk.  We see her atresia surgeon  this week and, I’m praying with her improvement in being able to go, that Hirschsprung’s is now out of the picture.  I also posted on facebook that she seems to have passed her hearing test from last week.  The ear that failed before passed completely.  They still want us to keep watching her, though, and possibly do tests in the sound booth when she’s old enough.  Unfortunately, if she can hear, she will lose her speech therapist.  Our current speech therapist comes with the Early Intervention for the deaf.  She said she will transition to another therapist for us.  The closest speech therapist on our insurance is in Durham so not sure what we are going to do yet.

Working on sitting up with her physical therapist.  She’s getting stronger every day.  Lately, the improvements have been slower but she’s not regressed any. at least.  She’s sitting beside me now as I type bouncing her infant seat so hard, I think she’s trying to fly!  Also, she’s saying ma-ma a lot.  Julia thinks it’s because Natalie loves me but I’m thinking it sounds more like “why don’t you come pick me up?".

Amy

Videos of Recent Development

6 months old

Half a year already?  Hard to believe.  What a huge difference life is now from when Natalie first arrived in January.  She has such a personality already.  I love to make her smile enough to see her tiny dimple.  We did an exercise in ‘what do I love about  my brother or sister’ a few weeks ago mostly to help Zach and Julia.  Zach said right away he loved how Natalie was so happy all the time.  Course, when they were watching her shots get fired in yesterday, he knew to hold his ears in preparation for the “I’m in pain cry.”

Saw the pediatrician on Monday and will see the geneticist tomorrow.  I came armed with all my research with my main goals being some sort of help for Natalie’s constipation and clearance for her to take Nutrivene-D.  For the constipation issue, the doctor doesn’t’ think it has a connection to dairy products because it would be more of the diarrhea variety rather than constipation.  I’m stilling limiting dairy just in case but not being so strict.  The doctor gave me a dosage for Miralax and said to try Prune juice daily for awhile. I mentioned that gotten a checklist from the National Down Syndrome Society for things to check in the first year.  It mentioned screening for Hirschsprung disease. I thought it would have been discovered at birth but the doctor said no and Natalie’s problems would fit that.  It’s when nerves don’t form at the end of the rectum making it difficult to feel when to go to the bathroom.  The surgeon would remove the portion of the intestines without nerves and sew it back together.  It requires a biopsy to tell for sure.  I’m supposed to ask the geneticist if that’s really something they need to check for tomorrow and then have her stomach surgeon do the biopsy.  The pediatrician said if she does improve using the Miralax and prune juice, it’s a good sign she doesn’t have Hirschsprung disease.  I gave her Miralax when we got home yesterday and she went in about 10 minutes so I’m hopeful.  I’m also continuing to take flaxseed oil in hopes that it will help her as well.

For the Nutritional Intervention, I explained I’d read that the extra chromosome causes and overabundance of the SOD gene. Too much SOD causes there to be too much hydrogen peroxide in the body, which, in turn, damages cells (just like it damages bacteria cells when you pour some on a cut). The most susceptible to H₂O₂ damage seem to be brain cells.  At first, the doctor was hesitant but when I showed her the research and the ingredients, she said she didn’t see anything in it that would hurt Natalie.  The doctor did suggest I bring it up with the geneticist too.

As for normal baby stuff, she grew a lot from her 4 month checkup.  She’s now 14 lbs 4 oz (20% on the normal development chart!) and 24 3/4” (20% on the normal development chart).  I’ve been told it’s good to even make the chart so 20% is great.  So, looks like her thyroid is functioning since she’s growing well.  The doctor said the smiling and alertness is a good sign the thyroid is fine too.  We are supposed to get it tested at 6 months so will probably do that at the geneticist office Wednesday.  Low thyroid during developmental years can lead to mental retardation and since Down’s kids can often have low thyroid, it’s very important to keep a close eye on it.  Oh, yeah- and she can grab her toes now!  :)