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 www.greysgift.org/.
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.