Been Busy

The last few months we've been busy, just living and enjoying the summer!  Since Maddie got tubes, she's been progressing leaps and bounds.  She's walking like a champ, she's babbling and saying more and more words and I know she's so smart and understands us even if she can't always communicate with us.

Since around February, she has started to have terrible fits.  If she was upset or didn't want to stop something, for example to leave, she would scream, throw her head down, and if I was holding her, scratch my face, rip my glasses off, or flair and kick.  It's progressed as she's gotten older and she never really did it at school.  My MIL has been her for a few weeks working with her so she's been the primary caregiver and Maddie has started doing the same.  I think it's because she is almost 2 and also has a difficult time expressing her self.  Her PT thinks it's because in some instances she's being challenged.  I was trying to think back about her sister at this age and she definitely had her moments and she still will assult me, kicking, biting, scratching when something doesn't go her way.

Maddie has pectus and I didn't think it was too bad, but we got an evaluation from a Pectus surgeon this week who stated that it was severe and she would most likely need surgery when she's around 10.  In my mind, I thought that since she wasn't experiencing any respiratory or cardiac issues, we wouldn't do it for aesthetic purposes.  However, since doing some more research, it won't matter we will need to do this as she gets older it will become more extreme.  I also had envisioned the bar to be a small, 2-3 inch bar, but I was shocked when I saw it.  It's about 6-8 inches and will go under the entire sternum stretching across the entire ribcage!  At least we don't have to do anything immediately.

She is scheduled for a 3 day EEG at home which I'm not looking forward to.  We were unable to capture any of her 'tics' during the 6 hour one so we get to do this again.  The most difficult part is getting the nodes on and she has to be sedated.  At least we know now that she needs the full dose.

The other thing we had to do was get an ultrasound of her kidneys, bladder, spleen and that general area.  It was something I needed to check off my list, but hadn't gotten around to it.  There was no concern but one of the first things I noticed was her right ear was a little bit smaller than the left when she was an infant. Our ped said that the kidneys develop the same time as her ears so we need to get it checked out.  She never had any issues that would indicate that there was a problem, but in June her urine started to smell so I suspected a UTI and it was positive.  We figured it was a good time to do this and the results were normal - yay!

Yay for being healthy and making progress!

Updates...it's been a long time!

So since Maddie has pulled up, she's been cruising all over the place, I feel that she'll be walking by her 2 year birthday!! She's also able to understand simple commands: bang, splash, hit, stop, no, Maddie, roll-it, high five, raise your hands, roll the ball, and point to her nose/head/tummy when asked where they are. She can sign her version of all done, and wave hi/bye. We are starting to introduce american sign language (AML) to her as it's slightly different from baby sign language and much more comprehensive. Even her teachers work with the class to learn AML, which is so helpful and supportive.

In January Maddie had 2 ear infections which brings her to +7 in the past year, I don't have the exact number. It took a month to see the ENT, and then it's another 3 months before they can perform her tubes surgery so hopefully there will be a cancellation and no ear infections! That surgery is scheduled for April.

Also due to switching to Matt's insurance, Maddie can get physical therapy weekly and she's also started speech and feeding therapy weekly, however the recommendation is for it to be 2 x's a week. We have to appeal with HR to cover 104 sessions for 26 weeks, but most likely it will be 208 for the year, hopefully they will accept that request. I mean, she doesn't speak and only verbalizes ma-ma, da-da, ha, ga, and la but indiscriminately. At least we started with the sign language early and have a way for her to communicate with us, so I feel this is quite important.

We have also been approved to visit a developmental pediatrician at Kennedy Krieger Institute which is a comprehensive hospital that has various multi-diciplinary programs to evaluate and treat the child as an individual, not just the separate conditions that are present. They have a short term intensive physical therapy program that I'd like to pursue, but we'll see what the doctor says. If anything, he will confirm that we are doing everything we can for her. I have a number of questions, but my main concern is that we aren't as aggressive with her in terms of therapy.

Originally our appointment was scheduled for June, but I called the office and she moved it to March, thanks Chanelle!!! So we will be in Baltimore for 2 days and will see the developmental pediatrician who has extensive experience working with disabled children and developmentally disabled and children with genetic issues. We also are going to see one of their physical therapists for an evaluation. It will be interesting to see what they say.

Finally, Maddie's eyes are good more than 50% of the time and with patching and growth may become stronger, so our optometrist doesn't want to perform surgery which could impact the progress that has already been done. So we will continue to have checkups and at age 3 evaluate the need for surgery, which she anticipates. So that's only next year, which I can't believe!

One more thing, Maddie definitely has an opinion. She will let you know when she's unhappy which typically consists of rolling-it (her sign for all done), high screeching, and the latest is clawing at my face and pulling my hair. I try to move out of her way, but when she first started it I didn't expect it so came to work with scratches on my face!! I'm not sure my co-workers believed my story! =)

That's all for now, when Maddie doesn't have a cold or ear infection, she makes great progress. Those really slow down her progress. We also got a handi-capped parking permit for Maddie, it's not always easy to carry a 30 lb child and all her stuff so this has come in handy and if the government won't/can't help us, at least we can get a good parking spot!!!

New Year

Maddie had a runny nose and ear infection on 12/22 and was on antibiotics for 10 days. She was basically drip free for 10 days and now is a mucus machine! Poor thing just can't get a break, her 18 month visit is next monday and I hope we won't have to go to the dr before that.

On another note, I learned of a non-profit in the county that Maddie attends pre-school in, which is different than the county we live in and use for early intervention. This non-profit focuses on teaching the day care teachers things to do with Maddie to supplement her other therapies. They will also work with the other children in her class. I'm excited about this b/c physical therapy every other week and speech and feeding weekly aren't enough. I'm also annoyed that my early intervention coordinator didn't mention this to me and when I asked, she said she used to work for them! This non-profit really seems to get it and I asked them to let me know if they think of anything we can do that might benefit Maddie and they said they would.

The non-profit is called smart start, however the way the funds are used differ in every county. In Raleigh or Wake county, the focus is on low income which if only one of us worked, we still wouldn't be eligible.

Pics of Maddie!

Since a lot of posts are reposts from my family blog, I thought it would be helpful to see my precious baby girl!!

Maddies 1 year Dr Apt!

This is a post from my family blog August 1, 2011:

Maddie's stats for her first year dr visit:

height - 50% can't remember the exact number, I'll have to look it up

weight - 21.5 lbs 50%

head - 95%, but we knew that and her growth is consistent which is good

The dr is pleased with the progress she's making and is going to monitor her pulminary, yay one specialist out of the way! Plus neuro and genetics are off my list! We will get her kidney ultrasound scan some time in January. This is just to rule out kidney issues b/c they develop at the same time as the ears and since one of Maddie's ears is a bit smaller, they want to be thorough.

Also, she passed her hearing test so I was happy about that.

Also, I was just thinking about her blocked tear duct and I don't think it's blocked so that is good! She's been doing patch therapy which has given great results, however the left eye still is not as strong. We go back in a couple of weeks to see what the dr recommends, most likely she'll have surgery. This will probably be done in January as well. (new flex spending account!)

One other thing if I haven't already mentioned it, she was approved to be placed on a waiting list of over 1000 individuals for the Medicaid waiver MR list, but unfortunately there is no funding for it, thanks Bev Perdue and Obama, I'm glad the $ I put in monthly is something Maddie can't even use. So really until Maddie turns 18, she won't be able to get a whole lot of government assistance or social security.

She has 2 top and 2 bottom teeth that started coming in at 8 months and more are on their way.

Here are some of the things she can do/say:

ah-da

da-da-da

mmmm (just started mmm sound last week!)

mamama

gaga

ba

blow rasberries

laugh

smile

hold 2 toys

bang the toys together

take toys out of a container

sit unassisted

transition from sitting to the floor semi gracefully!

stand when placed against something

take a step when holding someones hands

roll over both ways

extend hands to be picked up

push up when on tummy

eat stage 3 solids and some other table foods

can put a cracker to her mouth

drink whole milk - still needs to be warmed and likes it in a bottle!

She's doing great and making good progress, which is the goal. Still in therapy every other week and may get a walker shortly, thanks therapist Liz, those things aren't cheap! She's staying in the infant room when the other kids move up since she's not as mobile, that way they'll be able to accommodate her. Much more Maddie friendly! I will see how she's doing in 6 months and see if she's ready to move up to the 1 year class, otherwise, we'll just wait until next fall to move up.

We meet to discuss her progress with our early intervention coordinator and to see if we need to make changes, one of my goals is waving and I work on that a lot. I also am really working with her to get a non-verbal hand jesture to communicate, like milk. I thought she did it once, but I don't think that was the case.

Today I called Glaxosmith klein to see if their prescription drug assistance would help or if they had any coupons for Maddie's asthma med b/c it's not cheap, and they follow the same income allowance as the government, so individuals who are already getting government assistance, qualify basically for certain meds for free. They recommended me to some prescription drug assistance non-profits, and it's the same thing, low income. So frustrating, at least we have insurance and don't pay full price.

Maddie update

This is a post from my family blog (June 5, 2011)

Maddie has had some developmental delays thus far among other congenial issues and I haven’t written about it just because I was hoping it was going to go away or be a non-issue. So I’m going to start writing about it all so it’s documented b/c I am starting to forget and for me to vent and deal with it all because it’s very stressful. We’re taking it all one day at a time because otherwise I freak out Googling about every symptom, condition, or change.

Maddie was born with three holes in her heart and low pulse ox, the holes have since closed up, so that it great! The same week we went to the cardiologist, she was admitted into the hospital for wheezing so now we see a pulmanologist and treat her for asthma.

Also she’s at 5 months (she’ 10 months) in gross motor, 6 months in fine motor, and a little higher in everything else with her verbal being the highest which is the low end of average. She has hypotonia (low muscle tone) which results in a lot of the delays. We saw a genetist and are waiting on the results, had an MRI which indicated delayed myeleniation and are seeing the neurologist in 2 weeks which hopefully will give more answers.

I expect to have another MRI in a few months.

She has some eye issues in that her eyes aren’t aligned so we’ve been patching every day but she will most likely still need eye surgery.

She does PT weekly to work on her mobility, but she’s not crawling and just started pushing up at 9 months. She back scoots to get around and can roll. She can sit up unassisted when positioned (8 months).

This week we heard her use multi-syllable nosies, ba-da, da-da, va,da and were excited about that.

She’s been evaluated and enrolled our state’s early intervention program which will help coordinate evaluations, treatments, and work on her meeting her goals with her individual education plan (IEP). I’m sure I’m forgetting something as there’s lots to note and I’ve started making a binder of all her information. I’ll probably post some posts on her individual issues as there’s a lot involved in each one.

She’s such a happy baby and so relaxed and easy going. We just compare her to herself and she is making progress, it’s just at her own pace. She loves to watch Victoria and Victoria is her best motivator and we love her so much!

The cause of it all...

This is a post from my family blog....

Since Maddie has had all kinds of one off issues, we visited a geneticist to rule out any genetic issues, they also scheduled an MRI to determine if her low muscle tone was neuro-muscular. So we scheduled the MRI which indicated delayed milenation. Basically the nerve coverings aren't advanced or where they should be resulting in sparks flying in her brain, so she can't do what she wants to because the signals get crossed.

We scheduled the genetic apt in February and the earliest they could see us was May, Duke was July!! We had to wait about 6 weeks for the genetic results to come in and they showed that Maddie has 2 duplications in chromosome 7. She has a duplication at 7p22.2-7p22.3 and 7q35-the end or qtr. Basically this doesn't mean anything because there are no documented cases of this duplication. So all they can say is she will have low muscle tone and developmental delays which we already know. They don't know the extent or what her limitations will be. The doctors and therapists think she will walk and I do to, but that is all we really have to go on now.

We had to go in the next day to meet with the geneticist who was pretty much worthless, she gave me a pamphlet about 4 cases of a duplication at 7p35-qtr which I already found online. I went and looked up the individuals in that study and they had other issues which I don't think give a good indication of Maddies condition. Also, many of the documented cases I see state mental retardation....probably because they are older cases. I don't like that term and understand how it can be considered offensive. http://www.r-word.org/

Waste of money to go to the geneticist and wish the ped would have just ordered the blood work. You would think they would have some secret database of cases and documentation for genetic doctors only. They gave us 2 genetic support groups (again already found these online) but nothing local. And we have to pay a hospital fee plus the doctor fee, lovely.

At least Maddies neurologist didn't give us any information but said I could talk to a social worker if I wanted too which I did. She didn't tell me anything I didn't already know, we both work so we make too much to qualify for anything which is frustrating that I can't get a dime on a system that I've paid in since I was 15.

Sorry for my rant, this is just frustrating and Maddie is the best baby ever and I want to give her the best we can to maximize her potential. I need to document all of her milestones so that we can track everything to chart her progress.

She's about 5 months delayed in gross and 4 months delay in fine motor.

Physical Therapy

This is a post from my family blog:

Last week Maddie's physical therapist and I were talking and she asked me what the limit on therapy was and I said 30....later during the day I called our insurance company and asked some additional information regarding her therapy allocations. It's 30 therapy sessions regardless of what kind of therapy so she can't do 30 speech and 30 occupational, just 30 for all. There is not an appeal process if a doctor determines that she requires that, so we're going to have to do more homework with her and have sessions every other week. I'm going to see if they do group sessions.

Also, on Friday I met with the Wake County Mental Health department to get Maddie signed up for the Medicaid CAP-MR-DD waiver which is a way to get Medicaid when you don't normally qualify due to income but are mentally retarded or developmentally delayed. If she is approved, there are currently over 1,000 on the waiting list and there is not currently any funding for the program this year or next so maybe when she's older, she'll be able to get this which would be great.

The next step is to see about signing up for Social Security or Medicaid, however I have to go to the SS office here to sign up which is annoying that I can't do it online.

We have her hearing evaluation tomorrow so hopefully she is just really focused and doesn't turn to all noises because she is focused and not due to hearing. I know she can hear b/c she startles when Victoria screams, it's the low tones that I'm not so sure about.

About Maddie

Since Maddie was a few months old and not meeting her milestones right on track like her sister, I've been concerned. Her birth identified a heart murmur and she was diagnosed with 3 small holes that didn't close, in February the cardiologist confirmed they closed, thank goodness! She also had low pulse oxygen at birth which also resolved on it's own.

Her head turned to the left like her muscle was tight and she was diagnosed with Torticollis which is a stiff neck, so in November 2010 we started physical therapy.

The physical therapist identified that she had low muscle tone or Hypotonia. She said she ha mild low muscle tone. She worked and worked with Maddie to loosen up her neck and I would give her the 5th degree on her other patients with low muscle tone and she would never give me a straight answer, basically saying all kids are different. That didn't stop me from asking questions and I think when she realized I wasn't going to stop, she said some of the causes. Then I started researching everything and would come armed with specific questions, do you think she has a genetic condition, do you think she will walk, do you think she has brain issues?

Around Maddie's 3 month well baby visit, the doctor measured Maddies head circumference went from 50% - 95% percentile which was cause for concern. There really wasn't a possible mis measure, so they ordered an ultrasound to make sure there wasn't excess fluid or a tumor or something else that would cause an increase, and some times it's normal. Fortunately the ultrasound came back normal.

As I continued to discuss my concerns and questions with Maddie's pediatrician, she was very supportive and understanding. I've heard of other pediatricians who dismiss the parents concerns saying all children are different, if that was the case I would have gotten a new doctor.

In December, Maddie had her first ER visit due to wheezing, where she received some breathing treatments and the wheezing subsided. Then we started seeing a pulmonologist and started her on some flovent as a daily preventative and got a nebulizer for when the wheezing started to avoid future ER visits.

As Maddie continued to miss or hit her milestones very late, I continued my quest to find out the cause of it. I told my ped that I didn't think we needed a genetic test as I didn't think that was the cause. In Jan/Feb I decided we needed one to rule out genetic issues and she agreeed. We have 2 major children's hospitals in the area and the wait was 4-6 months, so I made appointments at both locations and would call back weekly to see if there were cancellations.

In February 2011, Maddie went to the ER and was hospitalized for breathing/wheezing for 3 days, that was so stressful and a direct result of incompetent workers in our house using the saw inside knowing fully that there were people living in the site. The sawdust made me cough and

poor little Maddie could hardly breath. I was so upset.

The genetist also recommended an MRI of Maddie's brain to determine if her issues were neuro-muscular. The MRI indicated delayed milenation and the nureologist thought it was a result of her genetic issues. Maybe in the future we will have another one, but he didn't think it was necessary. He also didn't think her low oxygen at birth had an impact on her brain.

We finally got Maddie's results in June right before she turned 1 and that was a horrible day. The genetist told me over the phone and wasn't really helpful. For some reason I stayed at work googling all I could about the diagnosis. The next day, my husband and I went in to see the genetist and counselor. They weren't helpful at all and gave me the documentation that I had already found online, the 4 cases that they had highlighted weren't even similar to Maddie in that they each had one of her duplications and then an entirely different duplication so it's not a comparable case. I was so annoyed at the waste of time and money for this appointment.

My husband and I were also tested and we don't have any genetic issues or carriers for Maddie, it is considered spontaneous or nuevo.

At least we have a cause for her delays and now I won't be googling like crazy diets, cures, and treatments. However, not having anyone with the exact same condition is also frustrating in that we don't know what to expect.

Dear 2012!

Dear 2012,

Last year I entered the year naive and hopeful, this year I feel like I've got a lot more information and realistic expectations and in some cases am even hopeful. I know there will be more doctors appointments, therapy sessions, and evaluations. I pray that there will not be any new symptoms or conditions and that it will be a slower more relaxed year. Plus you've got an extra day, so make it count!!!

Sincerely,

Realistically hopeful

Good Riddance!

Dear 2011,

Good riddance to you, I started thinking about your demise in August as at that point I've had enough. I've shed more tears, been more stressed, and have not had my act together as much this year as my entire life. You really brought in the big blows that I wasn't prepared for and you frankly sucked big time. Glad your gone and I don't want to think about you too much.

We did have some positives, Maddie turned 1, Maddie started crawling and pulling up and some fun trips.

So for your fancy 11/11/11, you can take it and shove it! I'm going to have 12/12/12 and an extra day to look forward to so ha!!!

Sincerely,

Done

PS - I even made black eyed peas on 1/01/11, so much for that theory!