Thursday, December 29, 2011

Such a sad statement.. .

Today I am reading a blog from another mother with Autism.  She is in my autism group.  I have only met her once because I don't go to as many events as I would like to.  It is just hard with all the appointments we have. When I met her, her younger son caught my attention.  Her son was wearing leg braces like my son wears.  I was telling her that my son wasn't wearing his today but he also has them and they are so frustrating with sensory issues.  She stopped me and said, no this isn't my son with autism this is my son with cancer.  Since that day she has been in my thoughts and prayers.  I couldn't imagine having to deal with both cancer and autism, two such different needs in two different children.
Today I found her blog, while I was reading the history after about a week in the hospital the first day of chemo her son was so tired of all the poking  and prodding.   "They promise he'll get used to it over time, but I just don't see how."     This was so sad to me.  No child should ever have to get used to this!!!!  That statement shouldn't be in comfort.  The very though horrifies me.  While going through all this testing with Matt, I have had thoughts wondering if one day my son would no longer be so scared of all of this, and it breaks my heart.    

Monday, December 26, 2011

Christmas 2011

I can't believe Christmas is over, it went by so fast.  We had a good Christmas.  I wish we had done more, but most days we were really busy and over all I think it was a good Christmas.
Christmas eve I had a mini meltdown, I had real thoughts of just cancelling Christmas for another day.  Maybe I was just wanting to stretch out the holiday.
I was so frustrated, Christmas eve Matt just wanted to be in his room watching Backyardagins.  I wanted to make cookies for Santa, leave cookies out for Santa, read the night before Christmas and tuck him into bed.  I was so upset he didn't want to join in.  I even wrote a post on my autism board saying that it was the first time I could say I truly hated autism.  Everyone left comments trying to be supportive but they all said we just have to learn to adjust.
I came to the realization that this year was so much harder, every year in the past I was more willing to let Matt do his own thing but this year all I wanted was to make Christmas memories, this year in the back of my mind, there, the entire time, I was thinking, I don't know what this year is going to hold, I don't know what my sons abilities will be next year, I don't know how many more Christmas' I am going to get with him.  I really just wanted to make this year count and I lost in that area, because instead of taking things in stride I ended up yelling at my son trying to make him feel guilty for not wanting to spend Christmas with us.
After venting a little and Matt spending time in his room he did come join us for a while.   We did get a version of the Christmas eve I wanted even though it wasn't picture perfect.
Christmas was fun, it is a different kind of fun then I would have dreamed but it was nice.  Matt didn't pop out of bed in excitement to see if Santa had come, instead I spent 10 minutes trying to get him to want to go down stairs and see what Santa brought.  Matt didn't check to see if the cookies he left had been eaten, Matt saw one toy and just played with it for over an hour, giving no thought to the other toys or the stocking.  He eventually played a little with the other toys but the stocking was not even a thought for him.
We took him kicking and screaming to my brothers house were we had lunch and opened presents.  It was nice.  Matt loved all the toys he got.  He loved opening the gifts.
After my brothers house, we took him kicking in screaming  back home to finish opening gifts there with my father in law.  Matt really had an insane amount of gifts.  He would want to open them and play with them but I was able to get him in the mind set of lets just open and play with them later.  Every other year I have let Christmas drag out a week opening a few presents a day, this year it seemed like a better year to open them all and then play.
Now that Christmas is over it is back to reality for me.  Matt has pending blood work to do.  The blood work for battens disease got to the mayo clinic 4 hours too late because of the trouble we had had.  I also have to get blood work down and urinalysis done for Matt's neurologist.  We will do that his week.  I have also started working at my husband's company.  I will be staying in the office everyday and therapy for Matt will be moved here.  I really hope me being here will put less stress on Kevin and it is nice because I still get to spend the day with Matt.  

Wednesday, December 21, 2011

Where does time go?

The Christmas season is flying by way too fast!!!!  I was hoping to keep a really good log on our holiday events  but I have barely had time to relax let alone get a chance to write in my blog.
This Christmas has been a good Christmas season.  We have gone to Sea World a few times, even got to take my dad for the first time.  We have spent time with friends and family, made a few crafts, lots of shopping and wrapping, and of course have had many therapy sessions and doctors appointments.  (what a run on sentence) I am really sad the holidays are going so fast.  I have really enjoyed the break from reality.  I do have a bit to post on reality but those things can wait.
I will post some good news!!!!!  For the first time in 6 months Matt is making some progress!!!!!  Yes you heard that right!!!!!  Progression vs regression!!!!! We are not talking leaps and bounds but it means so much to me that he is progressing.
Matt has been less oral, he will hand me his pacifier and he won't chew on his clothes, hands, or objects.  He is a little more understandable, and he seems to have more energy.
This of course leads to more questions that might not have answers, no one really knows of illnesses where kids progress and regress, Matt loses and gains so many major skills.
Back to the holiday spirit!  Tomorrow is the first day of winter!!!

4 more sleeps till Christmas!!!!!  This Christmas is going to be a special one.

Friday, December 9, 2011

December is flying by!

December 9th

Every night Matt gets to open one of his Christmas countdown presents.  Since Wednesday night he was sick I didn't think it would be a good idea for him to have candy so I didn't give him one to open.  That meant last night he got to open two.  He was so excited.  He held both of them in his hands waiting to open them.  He unwrapped the first one then set it down and unwrapped the second one.  I thought that was so cute.  It made me wonder if this Christmas will be the Christmas he unwraps all of his presents and when all of them are unwrapped he might go back and look at them.  I hope not.  Matt has always been so much fun to give gift to because he loves toys and has always wanted to play with a toy as soon as it is opened.  I love that aspect of Matt.

After unwrapping the gifts we headed over to my nieces birthday party.  She had just turned 1 the day before, but she got sick and didn't even get to eat her cake.  It was still a nice party and really good to see everyone.

Today we were invited to be a committee for our insurance.  I don't really know what the point of it was.  When they were asked questions they gave those insurance answers where they don't really tell you much and you know that nothing is going to change.  We did get to have  good lunch and were given a $25 gift card for going.

Tonight we went and looked for Christmas lights. I wonder if anyone is born loving Christmas lights or if it is one of those things instilled in us from our parents.  Since I point them out Matt looks at them and then he will point them out.  I hope that it is something that he will really come to enjoy.  I have such wonderful memories of looking at Christmas lights.  I now live in the community that when I was younger had the best Christmas light displays.  The cars would almost be at a stand still as we drove through the neighborhood looking at the beautiful lights.  People would even stop the car and walk around just so they could see everything.  It is sad that 20 years later most of the houses don't even have lights up.  There was one house that looked really good but they lights were off so we didn't get to see it lit up.  I am hoping on a cold night coming up to stop at starbucks and buy Matt his first warm apple cider and find a neighborhood that will wow him.

We also watched Elf on a shelf tonight.  Matt really loved Chippy and kept pretending to fly.  I would love to get Matt an Elf on a shelf but honestly we  haven't even talked about the naughty & nice list from Santa.  It might be odd that I am not using it to try to get Matt to behave, but I just don't want to go into that with him this year.  I really want Christmas this year to be all about joy, happiness, and fun.  Maybe next year we will get into it.  

Thursday, December 8, 2011

Sick.. updated.

Yesterday we didn't do much Christmas wise. We made a cute Rudolph ornament. Sang Rudolph the red nosed reindeer over and over again but that is it. We went to my friends house for dinner last night and when we got home he started throwing up. He didn't even get to open his advent present because there was candy in it.

Today he is still throwing up. He says his ear is hurting. I am taking him to the doctor at 2:30. It is probably just a virus but with everything going on and Matt not being able to communicate very well I think it is better to take him.

Matt has an ear infection.  Glad we went to the doctor and glad it is not the stomach bug going around here.  

Monday, December 5, 2011

I need to blog... BUT..

I haven't wanted to.  I decided I am taking a break from having a "sick" child and I am going to make the most of Christmas I can.  Christmas is such a special time of year.  I don't want to miss it by being sad.  
I am going to use my blog this next month to try to add some happy memories.  

Nov 30-Dec 1 - realized ready or not Christmas is here and got my heiny in gear to get an advent calendar together.  I made origami boxes out of construction paper, filled them will little goodies, and wrapped them up.  Matt loves them.  I also found a christian Christmas countdown to read every night to Matt, and we also have a chain countdown on our tree with a verse for each day. 
I am trying to focus more on Christ this year because if Matt regresses more and has a terminal illness I want him to be able to find comfort from such a loving savior.  
This is how it turned out. 
Matt opening his first gift. 

Dec 2 was spent making Christmas gift and wrapping final presents for my grandparents and aunt that were in town.  We also make snowmen.  

An ornament made from clay and Matt's Hand. 

Matt and My Snowmen.  They cracked in places so I need to get some super glue.  

Dec 3 - we spent the morning and afternoon with my family.  We ate breakfast together, talked, laughed, played dominoes, and went to lunch.  A few people were missing in the photo but I didn't take many pictures hoping to get some from my grandmother. 
After lunch we took Matt to Build A Bear Workshop where he got Alvin.  Then we went to Chuck E. Cheese. 

Some of the family playing dominoes. 

Matt with Alvin.  

December 4 - We wet to Sea World - we were really bummed out because a lot of the rides were shut down and they were closing early.  We finally convinced my dad to go when we heard they were closing early.  We hope we can get dad to go this weekend.  

Matt on the Ferris Wheel 

December 5 - We had a follow up with Matt's sleep study.  We didn't find out much from the sleep study.  Matt isn't really getting and REM sleep and still has acid reflux.  I have to follow up this his GI on Dec 22.  I am pretty sure that will lead to something exploratory.
After the sleep study we went to the mall and did some Christmas shopping.  

Dec 6 - Speech therapy was cancelled Matt was very happy about that, he doesn't like therapy right now.  I still had a counselling appt so Angie watched Matt and he got to play with Ally.  
Then tonight my close friend who is going through a divorce came over and I made a fast dinner for her and her kids.  

So far it has been a busy holiday season. December is going so fast!  We have a busy rest of the week that I will update as we go.  I will try to update Matt's carringbridge soon with medical information.  I am taking a break from worrying or making new appointments but I do have a lot of follow-ups already scheduled.  

I hope anyone who reads this is having a wonderful holiday season. 

Wednesday, November 30, 2011

Can I quit???

At this second I just feel so done... just so done... I don't want to do this anymore. I want off this ride and I don't know if I even want answers. I hate the loss of innocence I once had. I hate finding out more disease that parents have to hear "I am sorry there is nothing we can do" it seems so unfair and I don't want my heart or my mind to hear of this anymore more. Very long story short I will go back and fill in details of the last two days at a later time. From what we know Matt does not have leukodystrophy - we have now moved on to testing for Battens Disease. There is no hope for Battens disease. No hope at all.

Sunday, November 27, 2011

Today... Tomorrow... Yesterday....

Tomorrow is the day I have been waiting months for, usually before a big appt I am nervous, today not really. I am anxious and partially worried but not really more than I have been the last 3 months. In my head I tell myself that the test will be negative. In my head I tell myself that nothing is really wrong with my son, it is all in my head. I don't think it even matters that I know we are past that. Yesterday I reminded my best friend about the appt, she asked me what I wanted to do when I got the news. She wanted to know how I would cope with bad news or how I wanted to celebrate with good news. I told her that with this appt, I just get news, no good news will come of this. I don't want my son to have leukodystrophy but at the same I want to know what he has, I want to know what the future holds. It will kill me if my son just gets worse and worse and I have no clue what causes it. I can't imagine my son passing and now knowing what took his life. I also wonder what the future will hold if it is positive, (I hope that if it was positive they would have contacted me months ago) I wonder if Matt would qualify for a bone marrow transplant or since he has symptoms if there will be no hope. I wonder what this month will hold if I get earth shattering news tomorrow. Today..... UGH!!!! This morning I woke up and I went to church. Matt was evaluated when he moved to the preschool class by the special needs department. The evaluator told me that he was doing good in class and didn't feel he needed a buddy. I was fine with that, she told me she would put him in the system in case he was having a bad day and I felt he needed the extra help. Matt has regressed more since august, the regression isn't as noticeable to me since I see him everyday but I know it is there. He has become extremely oral, he has to have his pacifier at all times and when he doesn't have it he has to have something or he licks himself, sticks his hands down his throat, chews on his clothes, bites... anything he can find to meet that need. When I was getting ready for church I had the thought maybe he does need a buddy at this point, but then I thought you know he does really well in class I won't mention it, he has done great. His teachers seem great with him. Last week we had to park really far there was no special needs parking and I go to a pretty big church. I brought Matt's stroller in, he didn't have his special needs stroller so it was just the normal stroller. It wasn't a big deal, I walked in took him to his normal class, he didn't want to get out of the stroller for a while and they didn't rush him. This week he told me he wanted to take the stroller so we took his new stroller in. I walked into the preschool area and suddenly I jumped into a nightmare (maybe not that bad but still makes me want to cry) The lady at the front started frantically searching for the special needs coordinator who just left saying that Matt needed a buddy. She walked with me to the class, she took Matt out of his normal class and put him in the class with the younger kids where she said they are better equipped to handle special needs. She talked to Matt different... she introduced him to the class and asked if anyone wanted to help him play with blocks. I know his doesn't sound that bad now, but it was frustrating... this is the same child that has been in this department since august. I did tell my friend at the church who also has a special needs child and is the nursery coordinator then she went over to talk to her. I ended up just going to the morning service and then helping in the nursery because I just wanted to hide from the world. I was going to write a really fun post about last night with lots of pictures. I might go back and add pictures with my phone. Last night we took Matt to incredible pizza company. We had such a good time. I love that place. There are not a lot of them yet across the country but they are growing. We ate dinner then we played putt-putt golf, saw a XD movie, made a Santa Clause stuffed animal, bowled, Kevin rode a roller coaster ride, and played games. So much fun!

Saturday, November 26, 2011

Putting up the tree...

I am very saddened as I am getting all the Christmas stuff put up. I have spent some time thinking about last year. Usually you think about how much your child has changed and gown in the last year. Christmas has so many memories it is a definite marker in time. As I think I am reminded that my son has regressed so much this year developmentally in every area he is behind where he was last year. It is really sad to think that he has changed so much for the year.
Also I am not seeing the next year bring hope of a better year, I have do much fear.

Thursday, November 24, 2011

Sea World

Today was really nice, tomorrow for Thanksgiving we are going to my brothers who is cooking Thanksgiving dinner. This is the first time in years I haven't cook Thanksgiving dinner. I am only in charge of the wine and a pecan pie. Since I had the free time and Kevin had a mostly free day we decided to go to Sea World. It was really nice, the weather was great for Sea World and I loved all the holiday decorations and themes.
Matt is very expressive but he doesn't have a wide range of emotion, he usually goes between blah, calm, hyper, and angry. While riding the rides at Sea World it is the only time he is truly happy. It is such a nice time.
Here are the pics... Some of them have major glares but I still thought they were worth sharing.
Happy Thanksgiving!

Tuesday, November 22, 2011


Today we got to get fitted for and pick up Matt's special needs stroller. I am so glad it came in. I have been putting Matt in his current too small stroller almost everyday and it is so nice for him to have a comfortable one that fits him. Matt loves it! We went two places today with it and the whole time he was calm. This is a nice change.
The weird thing is I have been frustrated in the past at times that people see Matt and assume he is a typical child, they look at his behaviors as bratty and they judge me for not being able to control him. This is only a little of the time, I also enjoy that he seems so typical and he seems healthy so much of the time. Today it was weird to walk around with him in his stroller, at first glance people could see he was different, for the first time there were many lingering glances where people were looking at his chair, before it felt more like they saw him. I guess it will take a while to adjust.

Friday, November 18, 2011


So glad that the MRI is over! I really tried to prepare Matt for the MRI, I talked to him, I told him they were going to take pictures of his brain, I kept showing him where is brain was. (he kept forgetting and thinking it was in his arm) I told him they were going to stick a little needle in him to help him go to sleep. Even though these things might scare him I always want to be honest with him about what is going to happen and I want to prepare him. I would want to be prepared if I were him. We got to the hospital yesterday we checked in and went to our room. It was the same room we were in last year. The doctors and nurses remembered us from last year. I answered all of their questions signed all their paper work and then it was time for the I.V. We had to wrap Matt up and of course he was scared, but the first stick he didn't do that bad. There was crying and screaming but it wasn't that bad. I wish it had ended there. They were not able to find his vein, the dug around or a while (like they do) then they pulled it out and tried another spot. Didn't work there either. I asked if he could take a break for a minute before they tried his feet. I held him and he just cried and cried. I got him calm but as soon as I laid him down again he started screaming. They tried his right foot twice with no luck, then his left foot, then they went to his right arm where they got it. He got stuck 7 or 8 times. It was awful! He cried so much and kept asking why we had to do this to him. At one point he put his arms around me and gave me the biggest hug trying to get past the pain. It was so very hard to see them having to do this, and knowing it had to be done. After the IV they went and got Matt a car. They gave him Matar, they asked if we already had it and i said yes so they went to go get a different car, it was the missal one, which Matt also has, but they said to keep both they felt so bad. At the end of the day they even let him pic two prizes. They also offered the tape - anything they had. I told Matt to say thank you for the cars - he wouldn't say thank you and I didn't push it, that is a lot of a little body to go through. The MRI went smoothly and he woke up fine - praise God! I am so glad it is over and I eagerly await the results. We go see doctor M on Monday, I hope to get answers then. With the holidays this week I don't know when I will hear from his neurologist.

Wednesday, November 16, 2011

Moving Mountains

Matt's MRI is scheduled for 10:30 tomorrow morning. We have to be at the hospital at 9am. Today at 3:30 I got a call from the hospital saying that we had to cancel the appointment because Matt's insurance denied the approval. I told the nurse I didn't want to cancel the appointment and I was going to try everything I could to get the approval, knowing I only had an hour and a half of the business day. I started calling every number for my insurance company I could find. I found out that it had been denied because they could not read the doctors handwriting. They didn't even call to tell the doctors office. The neurologist office resent all the paperwork but it was still pending approval for a peer to peer review. I drove to the doctors office because no one answers the phone there, at the same time I asked if Matt's pedi could do the peer to peer to get the approval, the insurance company had told me he could, but it made me nervous they would deny it because he wasn't a neurologist. I got to the doctors office, walking in the nurse saw me and knew who I was and why I was there, Dr T was at the airport and there was nothing he could do tonight and he would call at 8am, they were upset by everything too. Long story short my son's pedi saved the day got the approval and we are still on for tomorrow. What a stressful 2 hours!!!!

Loss of innocence

I hate that I have a loss of innocence, this last few months I have been made aware how unfair life is. I now know that there are so many rare diseases out that that just rob children of their lives. I now know even with all the medical advancements out there parents are still hearing all the time "there is nothing we can do". This is a harsh reality and I don't like knowing it is there. I completely believe knowledge is power, but at the same time I believe ignorance is bliss. I hate that when I see babies or pictures of babies I don't think joyful thoughts of a new life full of possibilities, I wonder if one day their parents will have to hear heart breaking news. I still pray that I won't have to hear this news, but at the same time I am so scared of the future. I hate the reality that I am in, I hate all the test, all the questions, I hate not knowing what tomorrow will bring. I hate anytime Matt breathes a little funny I stand on full alert hoping that this is not a sign his lungs are giving out. I have been made fully aware so many times that if he ever starts breathing different take him straight to the ER. I hate that today I have to try to prepare him for tomorrow, he knows now that doctors can be scary, hospitals are awful and almost always lead to pain. I hate knowing that tomorrow we are going to have to walk into a hospital, I will have to hold him down, and he will have to be put under. I hate that we don't know if that is really safe in Matt's case, and the doctor wasn't sure if we should even do it. I hate that I will have to wait hoping he wakes up fine, and when he wakes up I know he will be so terrified of being there. I hate having to wait for the test results... I hate the possibility of this not giving us any answers and I hate even more the possibility of the answers it will give us.

Tuesday, November 15, 2011


After writing my last post I called Dr. T, Matt's neurologist that to this date has not been very helpful. I actually got to speak to his nurse instead of leaving a voice mail. (I have left two voice mails this last week with no answers) I told her that Matt is still regressing even off of the medication. She scheduled an emergency appt for the next day. So Thursday we went into his office. No one was there, I was a little early and the office was empty except the staff. There ended up being two other appts that were both new emergency appt from the hospital. We saw Dr T first, he didn't know what to make of Matt's regression he keeps saying it is very rare to regress. I think he probably didn't want to tell me what the possibilities are because he doesn't know that I am already aware and I haven't told him about the luekodystrophy testing. At one point he was looking at Matt's blood work, which of course was normal and he said "his thyroid is fine, that would have been treatable" It was just another reminder that there is a good possibility when we find out what Matt has it won't be treatable. Dr T, said physical regression is not helpful in pointing out the problem, he said that any system can cause fatigue etc, so he did watch him run but didn't tell me if he saw any thing. We talked about his speech regression and his emotional regression. He said the best place to start would be an MRI. I was very relieved to hear this. I have been wanting and MRI for months. An MRI should point to or rule out leukodystrophy as well and maybe give us more insight as to what is going on. When leaving the office the nurse told me the normal wait for an MRI is still about 3 weeks, she told me when scheduling called to get on the emergency list. She didn't think scheduling would have a chance to call me before Monday, but they called on Friday and we set up an appt for Nov 29. I was really bummed because I wanted to have the MRI in hand when I go to Dr. M's office (the genetic / metabolic doctor). Due to our schedule we are great candidates for a cancellation appt because we wake up later than a lot of families so it is easy not to feed him before they call in the morning since most people don't cancel until the morning of. On Monday morning I got a call, there have been four cancellations this week and I had my choice of appts. We are scheduled for Thursday at 10:30, we have to get there at 9. It is Kevin's birthday and he is a little bummed I made other plans but I know he understands how important this is. In other news Matt's behavior has been awful!!!! He has been very emotional at all times when I leave him he cries and cries, when we leave Kevin he cries and cries, in therapy he has been running away and hiding and just not working with us. Yesterday Matt's PT had to block the closet and I had to block the door. He has been biting, scratching, charging and hitting. I have had to learn how to physically restrain him where he can't hit or bite me when I am holding him. (Thank you Jackie for this, it has helped a lot) Yesterday for no reason he wasn't even upset he took a sharp pencil and stabbed me in the head. I don't know what is going on but it is so frustrating. He will be sitting there very normal being very happy and then it is light a switch goes off and he just changes into someone else.

Wednesday, November 9, 2011

Small Regressions

Today when Matt's PT got here he asked to go outside. I said of course so we got him dressed and we went outside. Matt loves to run, he can't do it long and falls at times, but he loves to run. Last time we went outside was about 2 weeks ago. We started on his trike and then went to racing. He got tired fast, after about 5-10 minutes he was breathing hard and starting to stumble. He was tired for the rest of the day and it took him a few days to catch up from being tired. He didn't want to ride his trike today, we went straight to racing. He fell to the ground walking to hand me his paci before he started racing. (he has been so unstable lately) Then he started running, but after running about 200 feet he was so tired. His gait became crazy, his knees were almost crossing each other, his knees kept trying to give out, he fell a few times, the therapist was running right with him to catch him. There was a very noticeable difference from two weeks ago. I hate regression. Even today when it was time to come inside there was no protesting. He was just done.

Saturday, November 5, 2011

Now days...

This is how Matt spends most his days unless we leave the house. If we leave the house he will get up, but until then he just wants to lay around. Today he has gotten up to request food and drink and to color. Now he is back on the couch. He also slept 14 hours last night (since he has sleeping issues I don't know how much of it is sleep).

At night he gets very hyper, as soon as his body starts telling him he is tired there is a slow progression from laying around to jumping up and down, screaming, not listening, hitting us, being all around crazy until we give him his meds they kick in and he can fall asleep.

Friday, November 4, 2011

Things I know now that I wish I didn't.

After seeing Dr. T I know more now that I wish I didn't.

In the past she has been the main doctor saying that she didn't know what was wrong with Matty, she always said he was a work in progress. She did always thing that Matt has ADHD and was even treating for ADHD-ODD. We stopped trying to treat it with his last regression, he calmed on his own from lack of energy. She thought he could go either way. That he could have something wrong or he could just grow out of whatever it is. Now her tune has changed the outlook is much more bleak.

Things we know.

-She can no longer help us.
-She wants me to keep her updated, but it is not her specialty.
-If Matt's metabolic doctor runs out of ideas there is another one we can see.
-She will write an e-mail to the neurologist that she works with. (this is our second neurologist that I really like)
-She thinks an MRI would be helpful but she will leave that in the neurological hands and if he thinks it is needed. (she trust him)
-The neurologist I am talking about had a accident and had to have surgery so has been and is still out of the office, plus he books appts very far in advance.
-She thinks we are on the right path she agrees that Matt has a neuro-metabolic disorder.
-She says there are a lot of neuro-metabolic disorders that to test all of them at once would take all of Matt's body fluids.
-This could be a very long process.
-They have to test systematically due to cost of testing and the body fluid thing.
-Matt could die before we know what causes it.
-He does not have ADHD-ODD - this is just another symptom of whatever else is going on. (medication won't help)
-He might never be potty trained. She doesn't know what is wrong and she didn't want to give me hope that this is a skill he can have again.

I am very sad.

Wednesday, November 2, 2011


When your child is being tested for terminal illnesses you want any doctor you go to tell you, I don't think that is it. It is really hard when you leave another specialist office and they tell you that you are on the right track for testing. 😰
More later.

Tuesday, November 1, 2011


We had a good Halloween. I don't know what this coming year is going to bring so I wanted to make the most of this Halloween.
On Tuesday last week we went to an Autism Trick-or-Treat party at a local organization. The same one I am getting counseling from.
Saturday we went to two Fall Festivals one with his cousin and then one at a small church right by our house. Matt had so much fun, the second one was so nice because it was really small and the kids were so friendly.
On Sunday we went to the AccessAbility Fest at Morgan's Wonderland. Matt had a blast riding all the rides and it was a great source of information.
Then Halloween night we went to our church's fall festival. They had a special needs hour, then they had the normal hours. The special needs hour was nice because it was not as busy. Then because Matt wanted to we tried trick-or-treating. All the past years this had been a total bust and I was really reluctant to go. To my surprise this year was great! The neighborhood my friend bought a house in this year was perfect we only went on two streets and everyone was so nice.
Overall I think this Halloween was a success. I don't know if Matt enjoyed every minute of it, but I do hope over all it left him with a nice feeling of the holiday.
Tomorrow we have an appt with Matt's developmental specialist. It will be nice to see her and see what she has to say. We might (slight chance) get the results from the leukodystrophy testing. Usually testing done at that hospital goes to all of the doctors and if that is the case with this testing we will be able to find out. If it is good news I hope we find out. Either way I guess I hope to know. I am really praying if it is a form of Leukodystrophy there is something we can do.

Monday, October 31, 2011

Happy Halloween!

Matt wants to try trick-or-treating tonight! So far it hasn't gone well, here is hoping tonight will be different!
I hope everyone has a great Halloween!

Saturday, October 29, 2011

Fall Time Fun

A few fall time photos.
The weather is finally cool enough to head to the park.
Matt's sleep study.
Pumpkin Carving this morning.
Fall festival at cousins church.
Tomorrow is the Morgan's Wonderland accessibility festival after church.
Sunday Halloween where we will be heading to our church Fall Festival that I love!

Friday, October 28, 2011

Sleep Study Tonight

Tonight is Matt's sleep study. It is tough to prepare for a sleep study, it is tough to prepare for any event where a special needs three year old will have to sleep somewhere else. Matt has so many comfort items and things that he "needs" and he is so obsessive is I miss something he will complain all night no matter how small it is.
We also got the approval for his special needs stroller. We got the approval last week but I just found out the other day. I never got a letter in the mail but I spoke to the person in charge of Matt's case and she told me it was approved. The stroller has been ordered and we will have it in 2-3 weeks. It will be nice to have it for all the holiday shopping coming up and all of the things that we want to do through the holidays. I borrowed a stroller from my friend that fits a little bit older kids this month for things we want to do, but it is really too small and very uncomfortable for him.
Well - wish me luck tonight!

Friday, October 21, 2011

A week of updates

I don't know if I have really updated yet, but I wanted to document the latest updates.

On Tuesday we saw one of Matt's neurologist Dr T (the one I don't like)
I told him what was going on and after some blood work he is taking Matt off of his seizure medicine to see what happens. From what I can gather from his un-informed (about this) receptionist I am supposed to call back in two weeks to give an update. Still waiting this doctors input but I am not hopeful. He didn't want to do another MRI because his last MRI was normal. UGH!

Today we went and saw Matt's sleep doctor, I like this guy. He is really nice and always really caring. When we started seeing him Matt slept less than 4 hours a night and those hours were interrupted. Now after surgery for his adenoids and other medicines Matt is in his bed for 10-12 hours a night. He has been sleeping really restlessly lately. He is still waking up a lot, and in the morning he still seems really tired. He decided to do another sleep study just to see if there is anything we can do. He is pretty sure whatever sleep issues are left are from what ever neurological problem that is gong on. Then he added right now we want to check under and rocks we can.

Something odd happened last night. I was getting Matt dressed to run to the store. I put both of his socks on, both of his shoes on, then I put both of my socks on and one of my shoes when all of the sudden Matt started saying that his foot hurt. I took Matt's shoe and sock off and there was a 1 inch plastic bracket in his sock. (This was the first shoe that I put on) What I find odd is how long it took him to notice the problem. If it was me I would have noticed right away as soon as I put the sock on, if somehow I had missed it the minute that shoe when on I would have noticed.
I know with MS the patients don't feel pain. I wonder if Matt is having that issue. He used to not feel pain when he got hurt everywhere but lately he has been a little more hypersensitive than hypo. Then last night at the store he started freaking out that his feet hurt, I took his shoes off and he wouldn't let me put them back on, but I am not sure if they were really hurting or he was trying to get attention. I hate not knowing these things.

Blogworld has had a slow week, I hope next week is a little busier. I miss reading new blog post. I hope everyone has a good weekend.

Tuesday, October 18, 2011

Pro Lo Quo 2go

We have been waiting for Matt go get his PECS book for a few weeks. There have been a few set backs, like me taking a while to get the pictures, Matt's ST losing her thumb drive, Matt's ST never making one like it before, and not being sure what book to put it in. Last week she told me that she should have it for him on Monday, I was really looking forward to it. When she got to my house she told me she had good news. She was talking to her co-workers and they asked her why we are not just applying to get a iPad and Pro Lo Quo 2go. She didn't know before that there is a way to get one as a communication device. So we filled out the paperwork and in hopefully 8 weeks Matt will have his very own iPad with Pro Lo Quo 2go. There is only one license but I will also be able to use it on my iPhone for when we don't want to take his iPad places.
I am so excited! I can't imagine Matt being able to talk and everyone being able to understand him. I can't imagine him being able to talk to my aunt and my grandma on the phone, or be able to talk to strangers and be understood.. just being able to talk to anyone!!!!! I am so excited! I really hope it all works out.
If you are unfamiliar with Pro Lo Quo there are some great videos on you tube and the website.

Saturday, October 15, 2011

Wednesday, October 12, 2011

Another Day

On Saturday Matt had a really hard time walking. It seemed like every 5 seconds he was falling. At one point he would stand up take 2 steps and then fall again. - That has passed and now he is back to his normal walk. It is weird to me that these things just come and go. Like last Sunday Matt's gait was very messed up, I tried to get it on video but every time I let go of him he ran so I couldn't get it. It cleared up the next day. - I hate that he is so inconstant. I am incredibly glad that he doesn't just get progressively worse, but at the same time it is frustrating to see him struggle with things and then when I try to mention it to a doctor they will say well I don't see it now. I haven't been told that in a while but in the beginning it felt like that a lot.
As Matt has been regressing, a lot more of it is being documented because we have great therapist that see him a few times a week that see that something isn't right. I also have good doctors who seem to listen and really care.
Another mixed blessing is upon meeting Matt he seems so healthy it is hard to believe that anything could be wrong with him. If he was more severe I know the doctors would be working harder and I would be getting faster appointments to see them and get results sooner. Since he seems so healthy they take the position "lets wait it out", "he's a work in progress", "this could just be a phase" No one has answers and it is so frustrating. Since he keep regressing I have so many fears, I dont' know what the future holds and neurological damage can't be fixed once it happens. If he does get to a point where he gets so much worse the damage might not be fixable. The same doctors that tell me "lets wait it out" also make sure i know if he starts to have any lung or breathing problems go straight to the ER, because in the back of their minds they all know the possibilities of the signs he is having can be very severe and can be deadly if the deterioration goes to the most vital systems of his body.
Matt's language has also been a little better the last two days. You still can not understand 80% of what he says, but there is more understanding than there was last week.
I do hope and pray beyond anything that Matt doesn't have a terminal illness at the same time I really want answers, I want to know what is going on. I want to have a clue what the future holds.

Wednesday, October 5, 2011


Today I had a meeting with a medical supply company and my son's PT supervisor. We are looking into getting Matt a special needs stroller or wheel chair. It is a very surreal experience picking out medical equipment for your child. I am very happy that we are working on getting it because Matt has out grown his strollers and other seating for toddler/babies. This alone has really limited what we can do as a family. At the same time it is very sad that this is needed.

We picked out the convaid ez rider in teal with planar seating. The medical supply guy said that insurances deny strollers a lot of the time because they are looked upon as cheap things that will break soon, even though they have made a lot of advancements.

Our back up is the Sunrise Medical Quickie 2 in green. He mentioned that the is a standard stroller, but the wheelchair we can adjust with Matt depending on his progressions or regressions. I know the stroller will be nice for transporting, it is much smaller and has a 5-point harness but the wheelchair would be nice that he could have more independence.

It will take us 2-3 weeks to get an approval, and then I guess another 2 weeks to get the chair. That seems to be about standard wait time for medical equipment.

Thursday, September 29, 2011

Losing Skills

Last week Matt had re-evals for therapy. I noticed something odd in his speech therapy eval. Questions that he was being asked, basic questions like body parts and colors took him a long time to answer. Even though he has known the answers for years he had a very hard time retrieving this information. I have been watching him and it has continued. Today I downloads a pre-k Halloween pack for Matt and we sat down to do it.
He had a very hard time with it, in the "which one is different" he couldn't do it. I asked him the colors of the candy the first one was green he said "red", I said try again, he said another color, then he said "green". The next one was red I asked him what the color was he said, "green", then purple, then he said "red" which I said was right.
Since he has known these things for so long, it is so hard to see him struggle with them. It is very disheartening.

Wednesday, September 21, 2011

Not Eating

Matt isn't eating very much anymore. I have always said that Matt lives off of pediasure but right now if it wasn't for pediasure I don't think Matt would be alive. I used to be able to get away with giving him 1 to 3 cans of pediasure a day depending on what he ate and now it is pediasure 3 times everyday and sometimes I feel like 4 might be better.
He is still eating sweets for the most part but not all I give him of sweets. He will just leave candy and not even touch it. I gave him ice cream tonight about 1/2 of a cup, he left about half and didn't want any more. I called the doctor Tuesday, he said to keep a food journal which I started a few days ago and to come in to his office in a week and we will go over it. He said he might switch Matt to something other than pediasure.
We are also looking into getting Matt a wheelchair or special needs stroller whatever insurance will pay for. Matt has outgrown his stroller and he is even too big for the mall stroller cars. He can't walk long distances he just gets too tired. After a few minutes he goes to his reserve hyper energy and starts getting very hyper and irritable, after that he just gets too tired to walk and I have to carry him. I have even tried a few carriers to see if they help. It is just really hard to carry around a 30 pound child.

Thursday, September 15, 2011


Two days ago I got a call reminding me about the yearly eye appointment I had set up for Matt last year. I thought about cancelling it because I haven't been worried about Matt's eyesight and I didn' t really want to go. I thought, well since we still don't know what is going on with Matt we might as well go to this appt to make sure his eyesight hasn't changed.
We went and Matt is still far-sighted and now we have found out he has astigmatism. The doctor was surprised how well he was able to see with his astigmatism and said in a lot of cases he wouldn't prescribe glasses with his prescription for a child this young but with other health problems he would, to see how to child handled the glasses. He says in some cases the kids really enjoy the glasses because it helps them see better.
I guess he is prescribing the glasses because Matt wouldn't be able to tell us if he was seeing blurry or getting headaches.
We got the glasses today, he is doing pretty good with them. He looks so much older with them on. Anyone want to take bets how long it will take him to break them?

Please ignore the lack of carseat cover. I have got to fix that, yesterday he vomited all over his carseat again and today we had an appt at 9am so I didn't get the cover back on. there is something between him and the seat but it has slip down in the picture.

Saturday, September 10, 2011

Sick or Not Sick?

Yesterday Matt didn't want to wake up. When he finally got up but he was so sluggish, all he wanted to do was lay down. He wouldn't focus his eyes, he wouldn't sit up straight, his heart was beating fast, he was shaky. No fever. I decided to take him into the doctor since we are going into the weekend and I wanted to make sure that he didn't have strep or an ear infection. After I called for an appt Matt had two loose stools, I thought about cx the appt thinking it was just a stomach bug. We went to the doctor he looked him over and said it could be pre-illness symptoms and if he spiked a fever then call him and he would try to see him this weekend.
After we left the office Matthew was fine. He had energy again, he was playing, eating. Acted like he had never felt bad. We went to my husbands new office to talk to someone about life insurance then we went to dinner. Matthew was totally fine no loose stools no being lethargic - just normal Matthew. After dinner we drove to Target and in the parking lot Matt vomited. We cleaned it up and again he was fine. We got home after shopping and Matt ate some more food and drank a pediasure and he was fine.
I hate that I never know if he is sick or if he is just having unexplained illnesses. This is so frustrating! Let's see what today brings.

Sunday, September 4, 2011

Eating Issues?1?!?

Tonight something weird happened again, we ate enchilada's for dinner since Matt still can't use a fork yet he didn't want to eat it. When I went to feed him the first bite he just spit out. I was so mad, this is something he has never done before and I thought he was just being stubborn. After that, a few minutes later I told him if he wanted to paint tonight that he better eat at least one bite. I put the bite in his mouth and he gagged. He kept saying "mmmmmm" and yummy but he gagged. He asked for another bite and the same thing happened. So I went upstairs and got the camera and got it on video. One thing I have learn when you child goes in and out of skills get everything you can on video.
When I thought about it, I realized he has been choking a lot when he eats but we never eat at the same time and I hadn't really noticed. I usually hear him cough a little or make a weird noise call his name and when he answers I know he isn't choking. Later I fed him some snacks to see if he would choke. I gave him a cracker, he didn't choke but he only chewed it at the front of his mouth for a long time and then swallowed it. The same thing happened with fruit snacks. I don't know if his swallowing muscles are having issues or this is a sensory thing. Tomorrow we have an OT eval, I will show her the video and see what she says. Then on Tuesday I will talk to the ST.

Friday, September 2, 2011

Thursday, September 1, 2011

PODD and Antidepressents

Yesterday I was doing research on PECS and I ran across PODD it is a form of PECS but it gives a much wider use of language. Watch these you tube video, they are really cool.

I was really excited because I was scared of losing so much communication with Matt and this just opens up a whole new word. The problem is this system is pretty new and isn't very big in the US. But when the ST supervisor was here today I showed her the video and she said we could do something like it. I don't know how long it will take to put together or what steps we will have to do to get there, but I am much more excited now.

I went to counseling today with Dr G, it was nice to talk to him, he is very knowledgeable and I am sure he agrees knowledge is power. He thinks that it might be a milk allergy. Interesting.

I also went to see my general doctor to ask her about some medication. I am doing better then I was last week but I wanted to be on something so I don't go back there. Also in case I get bad news I would like to already be on something to help me adjust. Tonight will be the first night. I hope it helps me sleep.

Here is a picture of my little man, he is getting so big! We have an appt tomorrow with Metlife to talk about insurance for him. I hope that we make it to the appt. If my husband gets home too late he might just want to cancel it because he has been working so hard lately and is very tired.

Edited to add - Tonight when Matt was going upstairs to go to bed he kept saying "I want to tired in your bed." He is misplacing tired for sleep. This is the second time in two weeks. Until the Napkin - Doctor thing, I had never noticed him doing this. (this note is mainly for my records just to have it documented)

Tuesday, August 30, 2011


Today had lots of up and downs, I can say that I am out of the depression I was in last week. On Sunday I was praying, I was just telling God that I didn't really want to turn to drugs (anti-depressants prescribed by a doctor to me) to get through this. At that time though I felt like there was no other way and I was so deep into the depression I really didn't think that I could get through this with God alone. Me of little faith, I know. Monday things just turned around, I don't think I have cried for 2 days and I have gotten out of the house, I have had energy, etc.
I am out of the depression but there are depressing realities still that I have to face. The speech therapist came this morning, she told me that they were not going to change Matt's goals but instead of working on artic we are going to work on vocabulary. If Matt has leukodystrophy he will loose his artic but keep his vocab. I also talked to her about the therapist ideas on PECS, he was very pro PECS saying that even once a child turns verbal it does not hinder them, it only helps them with their language development. I brought this up and she said she agreed. She is going to talk to her supervisor about what kind would be best for Matt. When he was non-verbal we just had pics on the fridge to help with communication, but now that he is older we think the notebook might be better.
This is a big step, unfortunately it is a big step backwards. I am excited at the prospect of being able to understand Matt a little better and get past some of the mis-communication, but we were heading in such a better direction before. I can't help to be sad. Also, PECS is very limited from what I have seen. Matt loves to talk, he talks about details and experiences, and ideas and PECS doesn't allow that. It makes me so sad that this is where we are headed. When Matt was younger everyone said that there would come a day he would talk and talk and I would just be longing for those days where he was quiet. I never got there, almost everyday I stop and think, "wow, he just said that".
After speech Matt's behavioral therapist came, he was out of town for 2 weeks and then we missed two weeks. Matt has changed so much in the last month. I think the therapist might have understood one word Matt said. He said he was kind of at a loss and that maybe we should just put therapy on hold. I agreed Matt's behavior is not so bad right now, his hyper-activity level has calmed a lot, I don't even give him meds in the day any more.
I guess I will see what tomorrow brings, I am thinking about going to the library tomorrow, maybe they will have some books on PECS or leukodystrophy.

Monday, August 29, 2011


I am going to start the first part of this by saying it is probably tmi, and if you have a weak stomach you might want to skip ahead.
So the most un-fun thing about being Matt's mom is that he just randomly vomits. Mixed with the fact that when it is happening he gets so upset he doesn't think to vomit into something no matter how many times we have talked and repeated over and over again, if you are going to throw up where do you do it. Last night a little bit after I put him down I heard him coughing, this was unusual so I started going back upstairs when I heard him start crying I knew what I was going to walk in on. The good thing is he was getting out of bed so instead of being in all the cracks and crevices of his fire truck bed we had regurgitated pizza and blue air head all over the floor - FYI blue air heads are hard to get out of carpet.
Thank goodness Kevin was home, when he is home we usually tag team the problem, Kevin has a very weak stomach but if I get the clothes off of Matt and out of the way he can take over getting Matt cleaned up while I work on the room. During all of this, Matt probably vomited 3 or 4 times and then the rest of the night he was fine. He woke up, told me he was hungry and a few seconds later he was dry-heaving. All morning long this went on, I couldn't even get him to hold down 1 tsp of Gatorade every 5-10 minutes. Finally I called the doctor to see if he would take mercy on me and prescribe something to help. We went in, he checked Matt over, no fever, no change in behavior, so he gave us something the help.
The crazy thing is, and this has happened before, as soon as we went to the doctor -no more vomiting. He was just fine, he has been able to eat and drink and keep everything down. I did give him one dose just in case but I am sure this has passed. It just seems like another un-explainable.

It is safe to read for anyone who skipped ahead.

Monday nights they have group counseling for parents of children with autism. They even have baby sitting which is amazing. I love the counselor, he is so knowledgeable and easy to talk to. I have been wanting to talk to him since the referral to Dr. M to talk about about the possibility of a metabolic disorder, but things kept coming up. Before the session started one of the workers of the organization walked in and said hi, I asked her if she knew much about the other areas of the organization or just the autism part. She said that she did and I asked her if she knew anything about leukodystrophy. She didn't but she did tell me that the therapist had one on one sessions available this week if I was interested. I told her I was, and she told me to make sure at the end of the night I sign up for it. Tonight had a lot of parents "new" to autism. They had just finished there parent training class and there kids had just been dx recently. They didn't seem to know a lot of about the whole autism word so tonight I did talk a lot, but not really for me, more to pass information onto them. At one point the counselor asked me a question about what would help me to be less stressed out, I told him briefly getting test results back and that i was really needing a private session with him. We are booked for Thursday. I am looking forward to it I really enjoy talking to him, I also love that he really cares about kids and always wants what is best for them.
On the way home I called the mother of Greyson, she was very nice and very helpful. She was so open to talking, which amazed me because in her shoes I would be a mess and start crying anytime I mentioned my son. She doesn't want his death to be in vain, she wants to help other families and prevent other needless deaths. She also said the testing should not take so long, they are going to see if they can do anything at all to help.
This is such a hard time, I really wish people were telling me there is no way he has this instead of "if he has this, you will be able to get through this" I just want him to be healthy...

Friday, August 26, 2011

Today just made me sad.

I realized today that I am going into a depression. I haven't been really depressed since I had Matthew. Before I had him, I struggled with infertility and pregnancy loss, and even lost my mom. I went through major depression for years. Since having Matthew I felt like all my dreams came true and even with bad news I was on top of the world. I would have moments of sadness but I was no were close to being in a depression.
Facing this I am so sad, I don't want to do anything, I just want to stay home and do nothing. I was home most of the week, usually that would have me scratching at the door trying to get out of the house. Today when heading for Bible Study I just wanted to go sit back down. Everything feels like so much work.
I need to snap out of this, I feel like I am getting no where and it isn't fun. I am praying for the strength to move on but working on life insurance stuff does not help. I tried to go to by family doctor this week to ask for some medication to help me through this, but she was booked all week. Hopefully I can make an appt for next week. I have never been on depression medicine before, but in the past when was sad it seemed okay to be sad. I can't be sad now, I have a family, I have things to do, I must get past this and be a functioning person the next 13 weeks.

Thursday, August 25, 2011

Grey's Gift

Today the speech supervisor came over to see Matt. She didn't have much to say, she reviewed his goals. I will see if there are any changes Tuesday when his ST comes over. When I told her that Matt was being tested for Luekodystrophy she got kind of quiet. I looked at her and I told her it is okay if you do not know what it is, it is very rare. She told me that she did know what it was. One of her friends son's had Krabbe and his father is now a very big advocate for the test to be put into the Texas infant testing. This is his website if anyone is interested
Something interesting to me about Luekodystrophy is that it seems like every parent effected by it becomes a huge advocate. I have never seen this in any other illness. You usually see about 10-50 percent of the people effected going on the front line for changes. It is amazing to me that even though so many parents are out there trying to be heard, this was still a childhood disease I had never heard of until my son was being tested.

Wednesday, August 24, 2011

Matt's Speech

Matt's speech has regressed. This time it isn't so much is vocabulary it is his articulation. I had noticed it for a little while but last week I mentioned it to his speech therapist. She told him she had noticed and it really concerned her. She had never seen that before and wasn't sure how to work with him. She spoke to her supervisor and she is coming tomorrow. I will be interested to see what she thinks.

Today something else weird happened. Matt started saying the word "doctor" wrong. He kept telling me "I hurt myself I need a napkin" his usual statement after two visits to the ER in two days a few weeks ago is "I hurt myself I need a doctor". Finally tonight I told him do you mean doctor and he said "yes" and started saying the statement right.

I don't know what caused it. It seems really odd. Matt has so many doctors and so many doctors visits you would think this is one word he would always get right. This is the first time I have ever noticed this. I only understand about 50% of what he says so he could have done it before, but this is the first time with such a common word in our house.

Tuesday, August 23, 2011

Life Insurance ?!?

Last night after I finished posting, I did a little bit more research. I wanted to find a blog from someone with Leukodystrophy. I was only able to find one that had ended years ago. The last picture was a picture of her little boys grave site. It was a beautiful grave site. A whole body stone with "take me out to the ball game' printed on it. Then it hit me. The reason the doctor told me yesterday that he wasn't going to write what Matt was being tested for was because it would make him un-insurable. At the time I thought that was odd because we have that covered right now and doesn't seem like a fear.
Looking at that little boys grave site, it hit me he meant life insurance. I walked downstairs and talked to Kevin about it. We both decided it is something we will look into. No one wants to look into life insurance for there baby. It is something you like to think well I can use it as a savings plan for college or something he might want to consider keeping locked in this price later on.
I am at a loss. I don't know where to begin and I don't feel we have a lot of time to look around.
- how much coverage do we need for him?
- is just enough for the burial cost enough? If the worst happened my life would fall apart,
would I need a little extra money to try to pick up the pieces?
- How long would my husband need to take off work?

I know no -one is reading this blog yet, but if anyone reads this and has any answers I would love to hear them.

Monday, August 22, 2011

I need to start again.

I haven't kept up with my blog now, but now is the time to start again. I don't know what I have posted about my son, but the last two years have been a roller coaster and I want to have the whole story down so others can see it.

When Matty was 14 months he lost all language and social skills. Before that he could say five words... Mommy, Daddy, Duck, Yellow, and Stop. He even knew a few signs. He also loved other kids, I would go to the playground at fast food restaurants and when other kids were there he would be so excited to run back and forth with them. When his language regressed he also withdrew from people. His language regression I noticed in late April. When I went to Sea World in late May I took Matt to the kiddie area. He was so scared, instead of playing with the other kids he clung to me terrified and wouldn't leave my side, I felt like I was torturing him. All this lead us down the path of Autism.
This was a scary time, with Autism there are so many uncertainties. Will my child be able to talk, will he be a functioning person etc. After a few months we went to the Autism Community Network, they did testing and he didn't qualify for provisional autism, but if he had been older he would have qualified for Autism, they wanted to go in and try to prevent it. We started joint attention training and then OT and PT twice a week. Matt made major progress. We were excited but he still wasn't back to "normal" but he no longer qualified under the autism spectrum. By two years and one two months Matt started using and understanding some words and he progressed from there.
Around the time Matt regressed he stopped sleeping, between ages of 1-2 he slept about 4 hours a night that were interrupted a lot! None of the sleeping medicines really helped. Finally after Christmas Matt's doctor referred us to a sleep study where they found out he had severe sleep apnea. So Matt had an adoidectomy hoping it would help. - it didn't really help.
The next April rolled around, Matt was 2 years and 4 months old, we went to the visit Morgan's Wonderland. By the end of the day Matt was walking really funny. All the people at the park kept telling me... it is awesome he is getting around so well today. I kept thinking he doesn't have any issues walking, but when I stepped backed and looked I noticed his gait was really out of wack. We kept and eye on it and at first he only started walking wrong when he would get tired. Then it went to walking that way all of the time. Then he started to get tired all of the time. Before this regression his favorite show was the Wiggles, He loved to get up and dance with them, but during this time he lost all interested he didn't have the energy to get up and dance. At the end of OT he would go sit on the couch so tired. This was the boy with boundless energy. If you look up physical regression you know it isn't good, my biggest fear was a brain tumor. We did lots of testing, we were even given a rush appt to see one of the top neurologist in our city. We also saw the orthotist and SMOs were made for him. (Braces to help him correct his gait.)
When we went to see the neurologist, he saw the autism in Matt's past he blew us off with dyspraxia, Matt does not have dyspraxia. He did end up doing some of his usual "autism testing" just to add to his statistics. So he did and MRI and an EEG. The MRI returned normal, I was so relieved! NO TUMOR!!!! but his EEG came back with different results, Matty had abnormal brain activity. On a scale of 1-5, 1-2 being normal, 4-5 being seizure, Matt was hitting 3s every few minutes. Which could help explained his sleep issues. Right before we saw Dr T (the infamous neurologist ) Matt had his first seizure that we saw, he was jumping up and down in the car and he just stopped, stood still for a few minutes and then went right back to jumping. Matt was put on seizure medicine that helped somewhat but we continued to see partial and silent seizures.
Somewhere along the way Matt picked up an intention tremor, no one could figure out where it came from or where it fit in. It just became another one of Matt's oddities. At this time we had been on a waiting list to see a developmental specialist. Shorty after being blown off by Dr T, this doctor who we will call Dr B, gave us a call, our appt time had finally rolled around and we were going to see her and get some answers. I was so relieved and I praise God for his timing. If we had seen her and not had the wait we wouldn't of had this new more troubling issue to talk about.
Our first appt she ended up going out of town so one of her students did the eval and I was called in a few weeks later to talk to her. She had actually called me and talked to me about the eval and told me if Matt had any troubles breathing take him straight to the ER. Then went we got to meet with her she couldn't find his reflexes. She ended up calling the neurologist down how she worked with to see if he would take over Matt's case. He came down talked to me, couldn't find the reflexes either and told me he would take over the case. We will call this doctor, Dr A.
While waiting Matt was still having sleeping issues. We were referred to Dr K, he did a sleep study almost a year to the day of the first one and we found out that Matt was having frequent night awakenings. He was waking up 28 times every hour. We put him on nexium and between the nexium and seizure meds he stared to sleep a little better.
Finally the appt with Dr A rolled around. He is an amazing doctor, it took months to get to see him but when we did he is the kindest man. He genuinely took an interest in finding out what was going on with Matt. We probably had our first appt with him somewhere in the beginning of this year (2011). He started doing testing. I don't even remember what he started with but I know the last thing he tested for was a whole bunch of genetic testing. All came back negative so he referred us to a genetic doctor who is also a metabolic specialist. Dr A was wanting to test for metabolic disorders.
The last few months Matt has regressed again. 6 months ago Matt was fully potty trained I was so happy! He stayed potty trained for months and then all of the sudden it was gone. He is back in diapers. He also went back to braces. His gait had improved and it was back to having issues. Just recently we have noticed his language has regressed. Both my speech therapist and I have such a hard time understanding him.
The idea of metabolic disorders scared me, I couldn't find much information but what I did find wasn't good. I found there were a few that could be managed but most the prognosis was not good. After two months the appt arrived. It was today, I was really nervous going in. I wanted to finally have an answer on what was going on but I really didn't want it to be a metabolic disorder. We went into this morning and the doctor talked to us. I knew from Dr B that he was a really good doctor but he would be short with me because all of his work was behind the scenes.
Dr M, did not have the best bedside manner but he tried. He was older than I had expected and the appt seemed kind of rushed. Communication wasn't that easy. I have a tendency to talk fast and he doesn't seem to want long answers to questions. After a few minutes he told me he wanted to test for some white matter disorders. I have never heard of this, he briefly described the white and grey matter of the brain. He told me he was going to have to send the test out. One would go to Dr Wagner at Thomas Jefferson University in Philadelphia and the other to another doctor at John Hopkins.
As we went to get the blood work I stopped and took a picture of the orders so I could look up the information when I got home. While waiting for the blood work I looked up white matter diseases and came across the only one he mentioned by name - Leukodystrophy. I did some short research seeing that it was a very rare genetic disorder and there were 40 different kinds all ranging in different levels of severity.
While driving home I called my grandma and told her the news. I told her it was very rare and I just felt like we were heading down another dead end. When I got home I did some more research. While looking up leukodystrophy I came across the saddest illnesses I have ever seen. I came across Amazing Sam I started crying so hard. To see this little boy go from being so healthy and happy at 6 years old, not being able to walk and barely being able to talk. I was devastated not only that such a horrible disease existed but terrified that my son is being tested for it. The more research I did lead to more sadness, when I took out the blood work orders I saw Dr M was testing for three types of lekodystrophy, Metachromatic Leukodystrophy (MLD), Krabbe Leukodystrophy, and Adrenoleukodystrophy (ALD). Three of the scariest illnesses I have ever seen. All leading to a horrible early death.
Now I am here terrified. 12-13 weeks of waiting for the results. I don't know how I will get by. I get the results back on November 28, right after Thanksgiving, heading right into the holiday seasoning, 1 day before the anniversary of my mom's death. This could be good news leading to a very happy holiday season, or could lead me into a nightmare making this possibly the worst Christmas ever.

I decided to start up my blog again. When I find out what my son has I want to have things documented for the next mom out there looking for answers. Personal stories are so important for mom's looking for answers.