Could it be Glycogen Storage Disease?

Although I have not posted in a while I have not stopped researching and looking for ways to make my daughter's life fuller.  I am sorry to say I have not come up with a whole lot (reason for no new posts) until recently.

A refresher.....My daughter was diagnosed by a Neurologist as having hypotonia.  He determined that the cause was in her muscle and not the connection between her muscle and her brain.  He did a blood test that said she has a deletion on her X chromosome.  So we went to a geneticist which in my opinion was a complete waste of time.  The geneticist said a bunch of stuff that I didn't really agree with but what do I know!  The Neurologist didn't agree either.  Flash forward a year later and I get a letter from the geneticists office saying that the person we met with was no longer with the practice and if we would like to be evaluated again to call and make an appointment.  We had our yearly apt with the neurologist and I mentioned this letter to him.  He said to go back!  The geneticist said the hypotonia was because of the deletion on her x chromosome.  The Neurologist didn't agree but as she was getting better he didn't feel it was necessary to put her through more testing.  

I have always felt that her muscle issues were impacted by her diet.  I have tried a Gluten Free diet and even eliminated her carbs.  I had a lot of success with no carbs but trying to keep a kid on a low carb diet is really, really, really hard.  They start to obsess over the things you don't want them to eat.  So now I try to get more protein into her but again it is getting hard but I find she has so much more energy, less temper tantrums and is able to use her muscles more.  I mentioned this to her PCP and Neurologist and both were like some kids are more sensitive to carbs.  OK, Whatever.

So, I was looking up something on the Internet and came across Glycogen Storage Disease.  I had thought of this a couple of years ago but only saw the type that was fatal.  For some reason I came across an article that listed all the different types.  This is a pretty good one too.
http://patient.info/doctor/glycogen-storage-disorders-pro

I couldn't believe how many symptoms that my daughter has that were related to this.  I wondered have they already ruled this out and I didn't even realize or have they totally missed this (which would not surprise me given our history of being misdiagnosed)?  I am bringing it up at her 7 year appointment on Friday.

Just wondered if anyone had any experience with this disease.  Their are so many different types and they symptoms are somewhat vague...  I just think if we had a proper diagnosis and support she will have more muscle function and I can't let that go....

All Day Kindergarten and Therapy!

I can't avoid it any longer....  My daughter is going to Kindergarten next year!  I have to say we are both ready!  Although the day will be a little taxing on her physically she definitely is ready for the mental stimulation.  I was telling my husband the other day that this winter has broken me! I no longer feel like a good mother.  I just can't occupy her any longer.   Although, I will be sad that she is getting older there will be no tears shed this fall when she steps onto that bus!

I should mention that I am sending her to kindergarten at the same place where she currently goes to pre-school.  She already knows the teacher and is very familiar with the surroundings.  I also am the chair-person for their fundraiser in the fall so I will be spending a lot of time there.  So.... I do not have a heart of ice just very spoiled next year : )

She will be going to school all day and she is ready!  I could not say that last year so I am very happy with my decision to hold her back.  I have no doubt that the first part of the year will be an adjustment and I often contemplate what activities if any I will enroll her in for the fall.  Keeping it together all day will be physically exhausting.  If we lived in the south and I could just let her run around outside for a half an hour that would work.  We don't.

If I have to pick one activity for her to do it would be swimming.  She loves it and it gives her muscles a great work out with hurting her joints.  I would pick this over PT, Gymnastics, Ballet, etc.  She belongs to the local YMCA.  The lessons are reasonable and she has a fantastic instructor!  The best part is at most she has 2 other kids in her class.  In-fact for the first 5 months of classes she was the only kid in the class.  Unfortunately the class is at 2pm and this instructor only teaches it on Thursdays.....

Is it worth taking her out of school early to get the benefits of the class?  There is another mother in the class before whose daughter also has hypotonia.  She actually gave me the idea to take her out.  She doesn't think her daughter will receive services next year and was having the same issue.  She felt it was worth taking her out early one day for the benefits of the class.  I talked to the director of the school about it and she was hesitant.  In the end it is kindergarten and taking her out won't be the end of the world.  Just another decision to contemplate.  I guess that is par for the course.  

Summer is Great Therapy for Hypotonia!

Summer is almost here and I wish we could bottle it up and keep it around for the winter!  Going to the park, water balloon fights, swimming, hopscotch, jumping rope, walking up and down hills, even walking on the curb are great activities to help kids with Hypotonia!

With that said, I realize that some of these activities may not even be possible for some kids.  But even the activities they can attempt have one thing that no amount of PT can give them.  FUN!  I think one of the biggest challenges my daughter faces is lack of interest!

She doesn't even always want to go to PT because it is hard work with little or no reward (to a 5 year old that is).  In the summer she is working her muscles without even thinking about it.  To her she is just having fun!

This weekend for example...
-We went to the farmers market.  We walked around for about 10 mins, had an ice cream break and then walked around for another 10 mins.   This helped her build her endurance.
-She helped my mother plant flowers.  She dug holes and watered the flowers.  Both great for shoulder strength.
-Had a balloon fight.  She was running around tossing balloons.  Great for her endurance and practicing running.  We had lots of breaks but she was out there for an hour and a half.

I will give a word of caution that I always need to remind myself.  Make sure your kids aren't over doing it.  Although my daughter didn't seem worn out during the water fight and wanted to continue, I pulled the plug a bit too late.  She was pretty sore at the end and is totally wiped out today.  She does this with swimming also.  Unfortunately, her muscles can't keep up with her mind but I have to know when to say when!  This isn't always easy when everyone is having fun!

Enjoy this summer and all the fun it brings!  Also, remember to watch your child's pace.  I know my always wants to keep up with other kids or is having too much fun to stop.  I have to be the gatekeeper which isn't always fun.  Either way it is more fun than sitting in a PT's office!

Busy in the Garden!

Stroller for 6 year old! Yikes!

Payback is a bitch.....I am buying my daughter yet another stroller and I am sure it is because of all of the judgmental looks and thoughts I gave a family in Babies R Us over 6 years ago.  I was shopping for my first stroller and a family came in with a 6 year old looking for a stroller.  Even the person helping them was like "for her???".  I thought are you kidding me?  She must be the most spoiled and lazy kid ever!  It never occurred to me that she might have a medical reason or they lived in the city and walked everywhere and she couldn't keep up.  I thought the worst.

With that said my daughter now 54 lbs has grown out of her stroller.   I took her to the park the other day and was worried the wheels on our current stroller were going to come off.  I have an Uppababy that I LOVE but is only rated for up to 50 lbs.  So I am stroller shopping and thought I would share my research.

When I first started writing this post I decided that I was not going to invest another $600 in a stroller and go with a relatively inexpensive Jogging stroller rated up to 75 lbs.  I wasn't totally convinced this was the best option so I decided to find out what other people in similar situations did.

Boy, did this put thing into perspective for me.  First off, I think I can say with certainty that my daughter will not need a wheelchair.  It also made me realize that when she is older she will not want to be in a stroller.  She will want to be more independent and want to do what her friends are doing.  Right now she is happy to ride but when she is with her older cousins she doesn't ride unless she needs to.  It made me think that when she is older and still has trouble walking she will probable want something that gives her more independence like a walker.

I also found out that insurance may pay for an adaptive stroller.  (Word of caution:  if you think your child might need a wheelchair at some point make sure you ask your insurance if they will pay for both not just one or the other.)  They base the decision on medical necessity and typically you have to buy the stroller through a medical equipment company that they use.

So, for now I am waiting on my insurance to decide if they are going to pay for an adaptive stroller.  I have no idea how long this takes or what we are going to do in the meantime.....  Right now we are avoiding going places where we need a stroller.  I might look into renting a stroller or borrowing one if I get in a jam.

I am including my picks for a regular stroller since I already did the research.  I am not including picks for an adaptive stroller because I don't know what my insurance is going to tell me.  There will be a follow up post!

Here is my original blog.....

When searching for a stroller for an older child you need to consider a few things.
First off is this for a special needs child.  There are Adaptive Strollers out there for a child with a physical disability but they are expensive.  I found a site that had a few jogging strollers between $700 - $900 but I have no idea of the quality.  Most other strollers/ wheelchairs  were well over $1,000.  They do go up to 100 lbs., 200 lbs., and more.  So depending on your child's disability it may be worth investing in a more expensive stroller that will grow with your child.  
http://www.1800wheelchair.com/asp/view-category-products.asp?category_id=519&filter_130=1202

Second, what are you going to use the stroller for?  Running/walking, rough terrain, shopping malls, city walking, amusement parks.  This is still an important consideration.  When my daughter was younger we lived in the city so we used the stroller for everything.  Now she is older and we don't live in the city our needs have changed.

Third, weight limit.  How long do you think you are going to use the stroller.  I am not sure there is a concrete answer for that as I never thought we would outgrow the Uppababy.

Lastly, cost.  If you want to spend a lot of money great!  The stroller world is your oyster, take your pick!  I however have already spend around $800 on strollers and am looking for the most cost effective option!  The prices definitely go up with the weight limit.

I am feeling hopeful that my daughter will only need the stroller for a few more years.  I have not yet resigned to buying an adaptive stroller.  Financially, maybe not the best decision but mental it is the only one I can handle right now.  So I have decided to look for a stroller that goes up to 75 lbs.  I need something that I can use when I am walking to the park/beach (when on vacation), moves easily in crowded areas like the city or an amusement park and folds easily and compactly.  In my opinion the Uppababy failed in the last two categories.  When we bought the stroller those things were not important to me but now they are.

These are some of the strollers I am considering.  There are lots of choices out there but these are the ones that I think give you the biggest bang for your money.

Top Pick - Joovy Zoom 360 Swivel Wheel

This retails for around $250 and has a maximum weight of 75 lbs.  It also has attachments for a kick stand for an older child.  It folds fairly easily and compact.  The back wheels come off to give you more room in your car.  It is wide so not as compact as I would like but found for the price and weight limit it can't be beat.

Close second - Baby Jogger City Mini.

Retails for around $240.  I say this is a close second because of the size and price but it has one major flaw the weight limit.  It only goes up to 65 lbs. If I had purchased this instead of my Uppababy I would be in good shape but I worry that my daughter will out grow this stroller too.  Unfortunately, children with mobility issues also have issues with weight.

Third, Baby Jogger Fit

Retails for around $299 but I did find it on sale for $279.  The major pro for this stroller is the weight capacity and ease of folding.  It goes up to 75 lbs. and is easy to fold.  The major con is the front tire.  It does not swivel which makes tight spaces like city walking and malls difficult.

My last pick is the Bob Revolution SE

Retails around $370.  The price of this stroller is a bit high and the capacity is only 70 lbs.  It is one of my picks because I know they are easy to maneuver and fold.  This stroller also has a swivel tire so easy to move in compact spaces.

How much should you push your hypotonic child? And Strawberry Shortcake Cake!

I haven't written in a while because I feel like I have nothing new to write and my daughter has been sick, of course...  I feel more like talking about the amazing Strawberry Shortcake Cake that I made last week than my daughter's hypotonia.  So I will start with the cake.  I got the recipe from Pioneer Woman's website.  http://thepioneerwoman.com/cooking/2009/05/strawberry-shortcakecake/

It was easy to make and tasted just like Strawberry Shortcake.  No it was not low in sugar or fat but I have a very bad sweet tooth and this satisfied it with one small piece.  I should also mention that I didn't have the correct size pan so I used an angel food pan with a hole in the center.  Worked perfectly and I was able to put whole strawberries in the center.  This recipe is a must for spring!  I think I will make it again today!

So back to Hypotonia.  I came across a website last week that talked about treating Hypotonia.  It had some great advice but one piece of advice was to push these kids to help build their stamina.  This always troubles me.  I always wonder how much to push my daughter.  I mean if I were to train for a race (I don't run so this is highly improvable) I would push myself every time I ran to build my speed or distance.  This seems logical to build endurance.  But is it logical for a child with Hypotonia?  I don't know.  I think part of the challenge is you are dealing with children.  If they would just tell you what hurts or what is on their mind in a logical way parents lives would be much easier.  The reality is they don't.

The other day my daughter said she did not want to go to ballet class.  She had fallen when she left school and said her knee hurt.  She was dancing around the living room so I was pretty sure this time this was not true.  She then said she didn't want to take ballet anymore.  Okay, this might be the real reason but  wondered if she was just tired.  I had just spent $150 on tickets and a costume for her recital so in 5 weeks she can throw the ballet slippers away but until then she is going to ballet (the class isn't all that physically challenging)!  My point is I can never tell if she is really tired and hurting or she has some other motivation for not wanting to do something.  Do I send her to ballet even though she might be tired?  Will this help her endurance or hurt her more.  I decided to send her to ballet and she had a good time but I really questioned my decision.  After the fact I think it was a good one.

Last month I had her evaluated by the school district again.... When the school district had finally wasted enough time and was under the gun to complete the evaluation it turned out to be on either side of a trip we had planned.  She had her educational piece just before the trip and the PT piece just after.  We went to a water park which was physically exhausting.  After the PT evaluation she was exhausted.  She was tired before this but it really set her over the edge.  She then of course got sick.  Sick for almost 4 weeks.  This round really set her back.  I found my daughter who was really coming out of her shell at school was being very quiet and reserved again.  It also took a big toll on her stamina.  To make matters worse she didn't qualify for services b/c our school district has impossible standards.  That is a topic for another post!

I think this last case was extreme and I didn't have a ton of choices but I do find when she is pushed too hard she gets worse not better.  Everything seems to fall apart. Finding that sweet spot is really tricky.  If anyone has some secrets I would love to hear them!

Increasing My Daughter's Energy Level - the Glycemic difference

I tend to write a lot about food because I think it is so important to our overall health.  I think it is especially important to kids with Hypotonia who tend to have tend to have low energy levels.  My daughter's energy levels have been very low over the past year and I have been trying to figure out why.  Even people who are familiar with Hypotonia and the symptoms comment on her low energy and stamina.  It always made me worry that something else was going on.....

I tried a gluten free diet after reading a blog and how it had helped a child with Hypotonia.  I didn't notice a difference in my daughter's muscles but noticed a big difference in her energy level and have been trying to figure out why.  Well, with the help of a friend I think I have cracked the case!
My friend suggested I try organic wheat.  She thought perhaps she was having a reaction to the pesticides.  So I switched to all organic wheat products.  I didn't notice a difference right away but I didn't expect too.  Then after she sent me an article about bread I started giving her sprouted bread and noticed a difference right away.

 http://foodbabe.com/2014/02/24/healthiest-bread-on-the-market/

I immediately investigated.  The packing on the bread said a low Glycemic Index.  Honestly, I thought this sounded like a fancy marketing word and was not taken in by it but decided to look it up.  What I found out amazed me.

Turns out not all carbs are created equal.  We process some carbs much faster than others.  The reason for this is there are two different types of starch.  Amylose and Amylopectin.  We convert Amylopectin starch to sugar much faster than Amylose starch.  If you have high blood sugar the Amylose starch is much better for you.

My husband has a family history of type II diabetes.  In fact when we were first married he had high blood sugar levels and was considered pre-diabetic.  Since then we have changed our diet and his blood sugar levels are on the low side of the normal range.  I think since my husband issue had been solved and we were so busy looking for other issues for my daughter I hadn't considered her blood sugar!   She eats pretty much what we eat so if my husband isn't having an issue with blood sugar why is she?

I don't know the answer to that.  I can only speculate that her inactivity is having an impact.  Since figuring this out I have reduced her carbs and gone back to the "High Amylose" carbs.  We are on day 2 and her energy level is great.  She gets up in the morning and wants to play.  She comes home from school and wants to go outside (it is finally warmer in the NE yay!). This is a stark contrast to before.  She would get up in the morning and plop in front of the tv.  She would get home from school and plop in front of the tv.  I thought this is just par for the course with Hypotonia but I was wrong.  She still tires from activity and this is normal but it is not like before.

Keeping up this diet I can see will be challenging since there are so many carbs for kids and there are just so many times I can get away with veggies and hummus for snack!  But now that I know the driving force behind the issue I will have too.  It will impact her overall health!

Support Options for Kids with Hypotonia

Hypotonia has caused my daughter to have flat feet.  We don't see an orthopedist because her gait is not that bad and seems to be improving with proper shoes and PT.  I was advised on shoes and even orthotics.  I was also told that building her calf muscle will improve her arch and I have to say it has worked.  She is still very flat footed but I see a huge improvement in her gait.  In case you are wondering she wears New Balance sneakers 99% of the time.  The rest of the time she will wear a Jumping Jake or Pediped dress shoe.  Oh, and you can't buy New Balance sneakers off the rack you really need to find a store to get a proper fit to support the arch.  Not all of their sneakers are created equal but when you find the right one it is great! www.newbalance.com

Since I had been advised on the feet it never occurred to me that their might be options to help support other issues (mainly sitting in a chair).  I figured if there were things out there someone would have told me.  Well, a friend who used to work in Early Intervention sent me a link to a website with such things. www.funandfunction.com
She had suggested a device that might help my daughter sit in a chair.  The item would have been a bit embarrassing in a school setting but wondered if it would helpful at home.  I asked her PT about it and she wasn't familiar with the items and didn't have any feedback.  That wasn't really helpful but did get me thinking.
My daughter is not the only child that has trouble sitting in a chair so there must be something that can support her at school.  I called her old PT and she suggested a wedge.  She said it helps keep their feet on the ground and offer stability.  Great!

I continued my research and came across this article that suggests PT alone is not enough.  It suggests various support garments to help the core.
www.karenpapemd.com/index.php/core-support-options
I often feel that going to PT once a week is not enough but am always left with the question of What to Do?  My daughter won't  brush her teeth without an argument so honestly I don't have the energy to make her do sit ups everyday!  I often wondered if there was something to "remind" her to hold in her stomach muscles.  Turns out there is...  And your insurance might even pay for it!
Check out the article it is interesting and informative.  I am going to do some more research before I actually purchase one of these but thought it would be helpful to share.