Tuesday, December 21, 2010

John doing "The Wheels on the Bus"

Helpful OT Therapy

John's OT recommended that I show John some videos online and they have been really helpful. John has never really enjoyed doing some of the songs with movements to them, but he loves watching these videos and he has even started doing the movements. However, he doesn't like for me to watch him while he does them. If I'm standing right there he usually won't do them, so I leave the room and then come back to hit play again. I had to hide around the corner to get this video clip of him watching Row, Row, Row Your Boat. When he points both his pointer fingers that is how John asks us "one more time" and the woman in the video is saying lets do it one more time.

You can find the videos by going to You Tube and in the search field type in Cullen's ABCs. This preschool teacher has over 500 videos on You Tube. Here are a few of John's favorites so far.

Row Your Boat: http://www.youtube.com/watch?v=YYijwjM8D5Q&feature=related

Head,Shoulders,Knees,Toes: http://www.youtube.com/watch?v=ZywKJTjUy_A&feature=channel

If your happy & you know it: http://www.youtube.com/watch?v=2KVNxAYge8Y&feature=channel

Wheels on the Bus: http://www.youtube.com/watch?v=p2PZJ01W4pI&feature=channel

5 Little Monkeys: http://www.youtube.com/watch?v=QO2gN9NLc2I&feature=channel

Monday, December 13, 2010

Tuesday, October 12, 2010

My little Monkey

This video is a little bit out of order. It was taken before John could say "bye bye." But it is still a recent video from this summer when John was a little over 2 years old. Wes built him a pull up bar and at first he would only hang from it, but then he got even stronger and started to put his feet up. I eventually removed the pull up bar from the house because he was making me too nervous with it when he started hanging upside down. I do think this video shows how far John has come. I used to worry that he would never be very strong or have a good set of core muscles, but his ability to pull his legs up like that proves that I was very wrong!

John saying "bye bye"

Sarah does not have GAMT

We are so excited that Sarah does not have GAMT! She had a 25% chance of having the metabolic disorder, but didn't get it. We did find out that she is a carrier of GAMT. One of her genes matches mine, but being a carrier will not affect her.

Saturday, September 18, 2010


I am so excited! I know I am a little bit delayed in adding this post. He probably started saying these two words about 2-3 weeks ago, but with the coming arrival of Sarah, I didn't have time to update my blog. John's two words are "HELP" and "BYE". Although, they are not totally perfect, you can understand what he is saying. Bye is much more understandable than Help. He says "heeelll" for Help. It is long and drawn out (real "southern" sounding) and he doesn't put the "p" on the end of it. He says this word for just about everything he wants. He knows if he says help while pulling on the fridge for food, or for getting down from something, or if something is stuck, etc... it works for just about anything he wants. I am not only proud that he can say Bye, but also he does it without being prompted, which I think shows great understanding of what is going on. He knows when someone is about to leave and he will say Bye or Bye Bye. He goes to a little preschool once a week and when I went to pick him up after the first day, he grabbed my hand and pulled me to the door and the whole way down the hall, until we reached outside, he kept saying Bye! In other words... he was ready to get out of there!

Sarah is born!

Sarah Klor arrived on 9-14. She weighs 7 lbs and was 19 inches long. Her delivery went very well and she is a healthy & happy little girl! We are waiting on the results of the genetic testing from Baylor in Texas and we were told we should hear back from them in at least 3 weeks, maybe 2. They did some early testing of blood & urine at Duke the day she was born. The urine came back clear, but the blood showed a little trace of guanidinoacetate. However, the geneticist said that based on the results, she still thinks that it looks more like she does not have GAMT. There hasn't been much testing done on infants to even know what normal would look like in infants. However, they did some research and found 3 infants in the USA that were carriers of GAMT, but did not have GAMT and at infancy they had slightly elevated levels of guanidinoacetate. There is a very high chance that Sarah is going to be a carrier of GAMT, so we are hoping that she is only a carrier of the gene and doesn't have it.

Wednesday, July 7, 2010

My Dad

This blog is all about GAMT, but I can't help but want to put a blog on here about my dad. About a week ago, on June 26th, my dad died suddenly of a heart attack. My parents had just enjoyed a weeks vacation in the Bahamas, they had flown back to Florida and started their drive home, but my dad never made it back. He was 57 years old and was in great shape, so it came as a shock to all of us. My dad really enjoyed watching John get better over the past year and I feel blessed that he was able to witness his transformation. I am so happy that he was able to celebrate with us as John was getting better. His funeral was on July 1st, my birthday. The day before was my mom & dad's 31st anniversary, so I refused to let her have it on that day. The day after the funeral, July 2nd marked the one year anniversary from the start of John's treatment. I know I'm still in denial and sometimes I still feel like he might just come back home from vacation. I miss him terribly!! I wrote a eulogy for the funeral and I knew it would make my dad proud if I could stand up there and read it. I know that God gave me the strength that day to be able to do just that. In loving memory of my dad.....

I AM MY FATHER’S DAUGHTER. In this time of great loss, I can find comfort in these words. He was the first man that I ever loved. He was always my strength, my safe harbor, and my hero.

We are a strong family….And anyone that knows us, knows that we are a very close family… in fact, all of his children are all neighbors in our home town of Pine Knoll Shores. The reason we will always be a strong family is because my dad valued family and he made sure that he instilled that value in every one of his children.

My dad learned this from his father, who was a great man that we all knew as Pop Pop….. My dad watched and learned from his father, like all children should, and he became the father we all loved beyond what words can say…. And now, I have children of my own and I know that I will always treasure all that I have watched and learned from my father; I pray that I will pass that love of family from me, to my children and to their children.

My dad was first a loving husband to my mother, he was an awesome dad to all of his children and in these past few years he was the best Pop Pop to his grandchildren.

My dad truly lived his life; in all of his 57 years, there wasn’t a moment that he missed out on. He had fun, he lived, he laughed and he loved. And most importantly, my father’s greatness was not defined by one moment; his greatness was defined moment by moment in the time that he spent with his family. He was always there to care, to help, and to offer a smile, a loving word, and a reminder of what was important in this life.

The day he left for the Bahamas, I hugged him, I kissed him, and I told him how much that I loved him; I have no regrets for the life we lived, I only wish that we could have lived such a wonderful life for many years to come.

I know that my dad would have no regrets. He truly lived each moment! As his daughter, the realization that one can live such a life is surely the gift he leaves to me, to my brothers, and to our children!

I know that my dad would want me to continue living my life. He would want me to continue to enjoy my children - to take them places, to teach them things, and just to spend time with them, just like he did with his children. Each time I hold the hand of my child, my niece, my nephew, I know that my dad’ s hand will be right there with me.

I will love, because he loved; I will laugh because he laughed, I will embrace each day because he embraced each day. And yes, there will be times that I will cry because each and every day there will be a part of me that misses him.

In his passing he leaves me certain that I want to live my life more like my father. I want to do for my family what my dad did for us. I want to honor my father by teaching my children all that he taught me.

The most important thing my dad taught me was that family comes first; but this wasn’t the only thing that my dad taught me.

He taught me never to do a half-ass job and to always push a push broom, never pull it. He taught me that vinyl is final! He taught me that if you weren’t up with the birds you were wasting daylight. He taught me that good friends are a very important part of an extended family.

To my mom, I want to say that you have always been the heart of this family and the love of my dad’s life; we know that your heart is broken, and we will be here for you, always and forever. You will find dad’s love in the eyes of your grandchildren; each time you hold their hands, or wipe their tears, or hear their laughter, his love will surround you and you will always remember that all of that love, started with the two of you.

All of my life I’ve always wanted to make my dad proud of everything that I did. His love and his approval meant the world to me. And so, I will continue to smile through my tears. I will continue to laugh and to live every moment. My dad will always have a special place in my heart. And I know I always had a special place in his. I AM MY DADDY’S LITTLE GIRL.

Friday, June 18, 2010

Learning Puzzles

I am very happy that John is starting to accomplish another big goal in his speech. One thing that they wanted him to start to do is to identify objects. For example, when you show him two things like a "pig" and a "cow" he should be able to pick out which one you ask for. We are working on this almost every day. I bought some refrigerator magnets that are common objects and animals and I hold two of them up and ask him to pick out a certain one. Most of the time he gets it correct and then he goes and puts it on the refrigerator. Also, another big accomplishment is that John is learning how to do puzzles. I would say 80% of the time he puts the "circle, square, rectangle, oval and triangle" in the right spot on the puzzle. He doesn't always get it in because he can't always turn it to match it up and still needs help with this. He also is learning to match his animal puzzle and the past two nights he puts every animal where it should go and then we have a transportation puzzle that he is working on, but this one is a little bit harder.

Tuesday, June 15, 2010

Creatine Transporter Deficiency

If anyone is looking for more information or to connect with another parent with Creatine Transporter Deficiency, I received an email from a mother of a child in Germany that would like to be in contact with other parents with this disorder. Here is a link to her blog: http://slc6a8.blogspot.com/

Monday, June 14, 2010

6-14-2010 Update on John

Dr. Sarah Young is doing a presentation on John at Sherbrooke University in Quebec. They asked me to give them an update on how John is doing in PT, OT and Speech. I just thought I would post what I wrote back to them as a reference for later in case I need it. Probably the biggest accomplishment is that John is now able to drink from a straw which shows great improvement and potential for speech!

His development is going great!! The physical therapist actually quit seeing him at the end of November 2009. She then came once in Dec just to check on him and once again in Jan & Feb, but then after that she stopped totally. Once the physical therapist got him walking really well and even saw the beginnings of him running, she said the rest would just come to him in time and there really wasn’t much she could do. At that point I think the only physical skill that he was behind on for his age was walking up & down stairs, but she said that she really felt like he was going to do this just fine in a little bit of time. She told me that if I ever felt like John was lacking in a physical skill compared to his peers that I could call her and she would come check him out. John just turned 2 and he is running, climbing up stairs only holding one of my hands and he loves to hang from things like a bar at the park, which shows that physically his strength has really improved. He climbs up the ladder at the park to the slide without any problems. If I had to say that John was maybe behind in one area physically I would say that the only difference I can see compared to his peers is that he doesn’t know how to jump. However, I’ve been told that this can be a very hard skill and that some “normal” kids don’t do this until they are 3 years old. I was worried that he might have problems with balance, but the last time we took him out on the boat, he got his “sea legs” under him just fine and didn’t have a problem standing up while the boat was rocking. Also, I just put him in a gymnastics class and he can walk right down the balance beam, holding both of my hands and only getting minimal assistance. He runs and plays like any other toddler and you wouldn’t know the difference between him and his peers. Oh, and he even loves to dance, he moves his arms and his body to music.

He is getting OT twice a month right now. The OT is monitoring his hand strength. When we look at a chart to see how he is doing compared to his peers, it looks like on average he is only 2-3 months behind where he should be. He has gotten great at pointing with his index finger, which was a big skill for him to learn! He can use crayons. We are working on him learning how to unscrew things and he can turn his wrist and does it, but he just does it back & forth without letting go, so he isn’t able to really unscrew something by himself, but only because he doesn’t understand that you have to let go and do it again – if that makes sense. He has a “busy box” mastered – the toy where you have to turn a knob, push a button, slide another one, etc and things pop up. He can turn light switches on & off. He can turn pages of a book. He is working on a shape sorter and he can put the shapes in the right spot if you point to which one it goes in. And the OT said this falls more into his “Eye & Hand” coordination that he is lacking. He plays with play dough and is working on pressing on it. He does it very well, but this is where she can see that he might be lacking a little bit of strength still in his hands because he doesn’t do it as hard as one of his peers might. Another skill that he is supposed to have right now that he doesn’t is that he should be able to thread a bead through a string.

He started getting speech therapy once a week at the end of Feb. He has done really well. This is definitely the area that he is lacking in the most compared to his peers. If I had to guess I would say that as far as the comprehensive part of language he is a 2 years old, but has more of a vocabulary of a 1 ½ year old, which isn’t bad, but he is still about 6 months behind his peers. He understands a lot of what we are saying to him now, but doesn’t have any real words yet, except for “mamamamama.” He is definitely communicating with us though in his own way, which the speech therapist said is a major part of speaking, so I’m not really worried that he won’t talk, but I think it is just going to come closer to when he is 3 years old. He knows to point to things that he wants, he will grab your hand and drag you over to something, he will put your hand on something that he wants you to open. He can also give the sign for thirsty and hungry. Now that he is able to point, he is doing a lot more pointing to things and wanting you to label them. He has learned a lot of the parts of the body – “eyes, nose, fingers, toes, etc.” but only likes to point to most of them on you and doesn’t understand where his eyes are yet. One good example of him knowing what we are saying is that the other day he was pointing to my husband and my husband would clap, then he would point to me and I would clap and then I would point to John and say “it’s John’s turn” and then he would clap. As far as verbal sounds from him, he makes a lot of them, like “mamamama, babababa” he says his “A” sound a lot and we are even hearing the “G” sometimes now. We still haven’t heard him say “dadada” yet and my husband is dying for that day to come and says it to him all the time in hopes that he will say it back. John also does a lot of screaming lately, which is hard to discipline him for that because I don’t want to discourage him from making noises, but it is very loud and very high pitched!! He has just recently learned how to blow and makes that noise a lot. He can blow bubbles in a cup and by doing this he also eventually learned just last week how to drink from a straw. The speech therapist could probably give you more specifics if you are looking for them as far as his verbal language goes and where she thinks he is at. I haven’t really asked her about that recently because I continue to see new things from him all the time. One more thing I thought about with his speech that he is doing is he is able to shake his head “no” when you ask him a question and it seems like lately when he wants to say “yeah” we hear the beginnings of “eah.” And when he points to something he always makes a noise like he is trying to say something.

Friday, June 11, 2010

The negative side to being one of the first few families with GAMT

I try to always write about the postive side to John's diagnosis on here because I guess it is a lot harder to talk about the things that worry me. Sometimes it can be hard being one of the first few families to have this GAMT diagnosis. I am constantly questioning what the doctors recommend and not because I don't like them or trust them, but I think it just comes with being a parent that you want to make sure you are doing everything you can to make sure your child is protected in every way possible. John's creatine supplement can be harmful to his kidneys if he is given too much of it, but just how much is too much? The doctors are monitoring his kidneys every couple of months, but with no data to look at it is hard to know how in the long term (over the course of his life) it is going to effect his kidneys. And the same with his ornithine supplement... how will this harm John in the future, if at all? They recently sent us to have his eyes examined because of the ornithine and a possible risk to the retina detaching from the eye. And what about the sodium benzoate? Will John have any negative side effects from taking these supplements for the rest of his life? Also the lowest we can get his Guanidinoacetate level in his body is a 3.8 and that is still higher than the high end of a "normal range." Will this over time cause some damage to his brain? No one knows because they've never had a child treated from his age that is now an adult to look at as an example. So John is an example, someone that they will learn from, which is hard to even think about it that way because you want to have someone tell you that everything is going to go just like this and John is going to be fine. I am lucky to be in contact with three other families that all have children with GAMT. We have learned a lot from each other. I think it is helping the doctors and nutrionist too because I am able to go back to them with questions that I have after talking to the other parents and learning how their doctors are treating their children. And we aren't all on the same page, for example two out of the four families are giving their children the sodium benzoate and the other two are not, so this leads me to wonder ... what is really best and does anyone really know?

John is on a low protein diet and the amino acid that his body cannot convert is arginine which in turn builds up the guanidinoacetate in his body that causes brain damage. Ok, so you think of low protein foods and you think of fruits and vegetables. Well, did you know that watermelon (a low protein fruit) is a food that John shouldn't eat. Watermelon contains an amino acid called citrulline, which is a precursor for the synthesis of arginine. Something that I only found out because my mom did research on the internet, not because I was told not to feed this to John. So you can see how this makes me worried, I can't help but wonder is there anything else out there that is a "tricky" food like this one that we just don't know about.

It is a constant balancing act that at times can be hard to manage. John is supposed to be on a low protein diet, but recently his protein levels have dropped below the chart of normal, so he isn't getting enough protein. But then the problem is that John won't eat enough of the low protein foods to get up to the grams that they wanted him to eat in a day, not to mention the low protein foods are horrible tasting. And now we are starting to struggle with getting John to drink all of his amino acid formula in a day and to take all of his medicines.

I know I shouldn't complain because John is doing awesome and it has been such a blessing to see him running and playing like a two year old should, but I just didn't want everyone to think that it is all rainbows all the time. I am constantly talking to the other moms comparing notes, we are taking his blood and urine about every three months to monitor everything, but it is just still the fear of the unknown that can be haunting sometimes. I know he is doing great in the short term, but how will all of this medication effect John in the long run???

Another rare disorder

I was reading my parents magazine today and I always find it interesting to hear about other rare disorders that may go undiagnosed. Today they had a little bit of information about the CURED Foundation (Campaign Urging Research for Eosinophilic Disease). This is something that I've never heard of before and it can have a variety of symptoms. Just like our GAMT kids, these children have to drink an amino-acid based formula to stay healthy. Check it out at http://www.curedfoundation.org/aboutee.html

Saturday, May 8, 2010

May 2010

John is starting to use a few signs to communicate with us. He is able to sign "hungry" by rubbing his tummy and "thirsty" by pointing to his mouth. He also has learned how to shake his head "no" and of course he finds this so funny that he laughs while doing it. He really is making great progress physically. He is doing better walking up and down stairs, but still needs our hands to hold and some help.

My only concern recently has been his diet. The last two times we have had his blood drawn his protein level has been below the normal range. This has me a little worried. Especially after talking to another mother Kim that has two children with GAMT, it seems like we are maybe being way to strick with his diet. I've increased his protein intake some in the last few days and we go back on May 24th to have his levels re-checked, so hopefully we will get some more answers then. It would be so awesome if John could start to eat more normal foods and it would make life a lot easier for him and me. His diet mostly consisted of fruits and vegetables and this week I've started to add more real dairy products to it, such as yogurt and cheese.

John's 2nd birthday is at the end of this month and I can't believe that almost 2 years have gone by. When I think back to his 1st birthday party, he was still struggling to sit up by himself. He had a little bit of fun opening presents and playing with his cake, but it is hard to think about sometimes because even though he was having some fun, you could still see him struggling inside and at that moment in time John was going backwards and it was feeling like we were losing him. I can't wait to celebrate his birthday this year because we have so much to be thankful!! He has made such progress in the past year and is so happy and healthy! It is going to be so nice to just watch him playing with the other children. What a difference a year has made!! John has taught me a lot and I am so proud to be his mommy!

Wednesday, April 14, 2010

April 2010

Just a quick update. John continues to improve and impress us with his physical skills. He can climb up a ladder at the park and go down the slide, which is a huge accomplishment! And he makes it look so easy, which is even more impressive. His speech is probably still the thing he is behind in the most, but we have started with a new speech therapist and we go there once a week. She is excellent with John and has really done some things with him that I see are helping. John now says "Uh-Oh" for a lot of things. Most of the time he uses it in the right context, but sometimes it is funny because he says it for something that he shouldn't say it for. Other than that he says "Ma-Ma" and it is sounding like he is trying to say "More" sometimes, but it comes out more like "mo."

We are still working on getting his levels straight. His GA level is at 4.2 which is great, but his protein level is still way too low, so I've got to start trying to increase his protein more without going too far over. And his creatine level looks like it still might be too high, but we are getting ready to change when I get the creatine from to a more ph balanced creatine, so they want him to be on that for a month and then to check his levels again.

The new baby seems to be doing great. I am almost 17 weeks now and we found out last week that we are having a baby girl! I'm so excited! We haven't picked out a name yet.

Friday, March 12, 2010

Cord Blood Information

I know that one thing I really regret with John was not banking his cord blood. I'm pregnant again and I definitely want to bank the next baby's cord blood. I started looking into it and found out that because John has a metabolic disorder, we qualify for a federal program called the Related Donor Cord Blood Program. This program allows us to collect the cord blood & since I am delivering at Duke, they will store it at their Carolina Cord Blood Bank for free for the rest of our lives as part of the program. I wanted to post this information for anyone else that runs across this site that may have a child with a metabolic disorder and is thinking about having other children. There are other disorders that would also qualify you for this program, but I don't know what they are, so you would need to talk to your hospital/doctors to see if you qualify. You never know what they are going to be able to do with cord blood in the future so it is very important to bank it!!

A disorder that has signs similar to GAMT

I've heard from a lot of mothers & fathers that have undiagnosed children with signs similar to John & GAMT. I've only heard back from one mother so far that got an answer for her child. Her daughter has another rare disorder called Phelan-McDermid Syndrom. I wanted to post this information in case there are parents with undiagnosed children that are reading my site because their child is undiagnosed. This is a disorder that can also look similar to GAMT, so it might be something you want to check into. Also, the mother shared with me that before they got the Phelan-McDermid Syndrom, the doctors told her that she had Angelman's Syndrome. However, when the tests showed up that she had Phelan-McDermid Syndrom, they went back and found that human error had occured with the original Angelman's test and she did not have Angelmans. Just want to bring awareness to these two other syndroms in hopes that it helps someone.

Wednesday, February 17, 2010

John's TV clip

Here is a link to a story that WRAL news in Raleigh ran on John on Feb. 9, 2010. I hope that we can continue to raise awareness about GAMT.


Tuesday, January 26, 2010

John can CLAP!

Horray! Horray! Our little man can now clap! I know this is like a 6 month old skill and he is now 20 months old, but he is finally able to clap! I think he went so fast with his gross motor skills that he just didn't want to take the time to clap or he was being stubborn or something, but we kept working on it and now he can clap!

Also, most kids learn early on, when you ask them where your nose is or where their nose is and they can point to it. Well... I have been working really hard on this with John because part of speech is understanding language and knowing a body part is actually something they have on their test. Well, John could care less about my nose or his nose or any animals nose. But now the other day, I showed him where his belly button was! And that he thought was really cool! It took him only a few minutes to realize he had a belly button and mommy had a belly button and now if you ask where it is, he'll show you!

John is 19 1/2 months old

Just an update on John's progress - The physical therapist was here on Jan 6th and said that she doesn’t really see a need for John to continue with PT. We are going to keep meeting once a month just to make sure he stays caught up, but she thinks right now he is there. And today he was climbing up his changing table over and over again, so now I think it is time to get that out of the room. His occupational therapist is going to come twice a month to the house still to work with him as he is still behind in that area a little bit. His speech has been making great improvements in the last few weeks. He understands a lot more of what I am saying to him, he points at things that he wants and he makes lots of babbling noises.Also, the genetic counselor called on 1-6-10 and gave good reports on the most recent levels we had taken on John. His GA level was 3.8 (before diagnosis it was a 29), his ornithine was a little high at 199 (200 is the high end of normal) so they are going to watch it a little bit, his arginine level is 42 (12-133 is normal) so she said that is great because they want to keep him on the low end of normal, his prealbumin level is 17.1 (18 is the low end of normal) so they are going to keep watching it, but for right now they are not worried because she said that there is a group called branch chain amino acids that you can only get from your diet and all of those levels looked great. They are also going to schedule an eye exam with a pediatric doctor – but I can’t remember exactly why, something about it just being a precaution and right now they don't see anything wrong at all with his eyes.

Here are some recent pictures of John. http://www.facebook.com/photo.php?pid=3083854&id=104740549193

Wednesday, January 13, 2010

More info for Undiagnosed Children

Here is another resource for undiagnosed children that a mother gave to me. Unfortunately I don't know about a lot of these because we went straight from a diagnosis of CP to a diagnosis of GAMT, so I didn't spend any time looking for these other resources.


Also Amy's blog has some more helpful information on it if you want to check it out.

Monday, January 11, 2010

Undiagnosed Children

I've gotten a lot of phone calls from mothers & fathers that have children that are currently undiagnosed. I love hearing from all of you and if there is anyway that I can help I will be more than willing. But please know that you are not alone out there as I have received quite a few calls. Never give up! Keep searching and pushing the doctors for an answer! If any of you would like to talk to some of the other families just send me an email at klor_family@ec.rr.com that gives a brief summary about your child and I will forward it on to any other family that also would like to be in contact with undiagnosed children. I've learned a lot from all of you and I think you can learn a lot from each other. Maybe someone even wants to start a blog for these families that lets everyone add their information.

Just today I spoke with a mother that has a child that has GA1. This is something that is tested in the newborn screening, but I don't think it is tested for in every state. She said that her son had unrelated problems after he was born and had to be in the hospital for a while. It was during this time when they had him on an IV that they noticed that even though they were feeding him everything correctly through an IV that something was still not right. They pricked his heel 3 times and ran the newborn screening 3 times and only 1 of the 3 tests showed up that he had GA1. GA1 is another metabolic disorder that has to do with breaking down amino acids. I just looked it up briefly online and it can also have symptoms similar to John's GAMT. One website where I found information was http://www.newbornscreening.info/Parents/organicaciddisorders/GA1.html. My suggestion would be to ask your doctor about all of the testing that was done on your child in the newborn screening and find out if there are any that you think are worth retesting. If there are any that sound similar to your child then it might be worth it to test again. Afterall it has probably been a while since the inital test was done. Lab tests can sometimes be inaccurate. And it might be worth it to repeat a test. Here is a link to a website and the very first question is "What does your State screen for" and if you keep scrolling down you will see there are lots and lots of tests that are run from this tiny blood sample. http://www.oaanews.org/newbornscreening.htm.
I've spoken to a few of you that have already taken your children off protein. I can totally understand that if you see an improvement that you would not want to put your child back on protein, but I also want to make sure that you know that you need to make sure you have a doctor and nutritionist that are willing to work with you on this. John has his levels tested every 2-3 months to make sure that he is still getting all the nutrition that he needs. If you doctor isn't listening to you when you say it works and that you want to keep him/her off protein, then I would suggest finding another one.

Best wishes to all of you! Thank you for contacting me and sharing your story.

Wednesday, January 6, 2010

John & Amy

This video was taken in June 2009, right before we received the diagnosis of GAMT. The first video clip is just to show you the little girl Amy. Amy is John's cousin and is about 2 weeks older than John. You can see she is walking around and playing like a normal little girl should be at that age.

The second video clip is of John & Amy playing together. You can see how Amy is able to easily get on her knees and even squat to play with the toy. She is easily able to play with the toy. John is just sitting there and it is hard for him to reach out to play with the toy. He is also still non-verbal and you can see the difference between him & Amy. Amy is babbling a lot like she should be. At the end of the video when we place John closer to the toy you can see how he reaches out to touch it some, but this is still hard for him to do. The way he holds his arm out to the side is to help him stablize himself. All John is able to do at this point (13 months old) is sit when he should be past crawling and he should be walking and babbling like Amy.


John & Lilly

This video was taken last Easter 2009. You can see Lilly in the video with John. She is 2 months older than John, but was also born premature. Lilly is able to walk and push things, while John still remains only able to sit up. At this point he is not even close to crawling, let alone walking like the kids his age. He still isn't able to bear weight on his legs. Even if you were to help him and hold some of his weight, he doesn't put his feet on the ground. John has also gone non-verbal at this point and the only noises he can make are crying sounds.


John & Xander

This video was taken Jan 2009. The little boy Xander in the walker is only 8 days older than John. John is sitting in the chair because he is not able to sit up on his own and there was no way he could put any weight on his legs and hold himself up in a walker. The second clip shows how Xander is already starting to crawl. You can hear us talking in the video that John was close to sitting up and even though I wanted to believe that this was true I knew that it wasn't. It wasn't until John was around 8 1/2 or 9 months old (and also in physical therapy) that he was finally able to sit up by himself.

1st Video clip: http://www.youtube.com/watch?v=PzjXR22dxqc

2nd Video clip: http://www.youtube.com/watch?v=Huz5CcreB8M

Monday, January 4, 2010

Hunting Newborn Tests for Super-Rare Gene Diseases - Associated Press

Published: January 4, 2010
Filed at 4:01 p.m. ET

WASHINGTON (AP) -- At his first birthday, John Klor couldn't sit up on his own. A few months later, he was cruising like any healthy toddler -- thanks to a special diet that's treating the North Carolina boy's mysterious disease.

What doctors initially called cerebral palsy instead was a rare metabolic disorder assaulting his brain and muscles, yet one that's treatable if caught in time.

Urged by John's family, Duke University researchers are working on a way to test newborns for this disease, called GAMT deficiency. It's part of a growing movement to add some of the rarest of rare illnesses -- with such names as bubble-boy disease, Pompe disease, Krabbe disease -- to the battery of screenings given to U.S. babies hours after birth.

''There's other children out there that can be helped and be saved,'' says Melissa Klor, John's mother.

But just how many illnesses can that tiny spot of blood pricked from a baby's heel really turn up? And not all are treatable, so when is population-wide testing appropriate?

''Families go through these odysseys of diagnosis'' to learn what's wrong with a child, says Dr. Alan Fleischman of the March of Dimes, who's part of a government advisory committee studying what to add to the national screening list. Often, ''they argue that they would have been better off knowing even if there were no treatments.''

Since 2004, specialists have urged that every U.S. newborn be tested for 29 rare but devastating genetic diseases, using that single heel-prick of blood, to catch the fraction who need fast treatment to avoid retardation, severe illness, even death. States gradually adopted those recommendations, and federal health officials say the testing catches about 5,000 babies a year with disorders ranging from sickle cell anemia to maple syrup urine disease and others with such tongue-twisting names that they go by acronyms like LCHAD.

John Klor's illness is too new for that list.

By the time her son was 6 months old, Melissa Klor knew something was wrong. John missed developmental milestones, unable to sit, stop his head from wobbling, or babble. He regressed, quitting rolling over. He stared blankly for moments at a time, a kind of mini-seizure.

A neurologist diagnosed cerebral palsy. But John never had an MRI scan to prove the diagnosis, and Klor eventually sought a second opinion. Right after John's first birthday came the news: His brain scan showed no sign of cerebral palsy, but he might have any of a number of degenerative metabolic disorders.

In a lucky break, John's blood and urine were sent to Duke's genetics laboratory for specialized testing that found he couldn't process protein correctly. John's body wasn't producing a substance called creatine that's crucial for providing energy to the brain and muscles, leading other protein metabolites to basically clog his system and damage his brain.

Creatine deficiency syndromes weren't discovered until 1994; Duke is one of the few labs able to diagnose them. Fortunately, John's version -- called GAMT deficiency for the enzyme, guanidinoacetate methyltransferase, that his body lacks -- is treatable in the young.

Doctors ordered a vegan diet -- only fruits, vegetables and specially processed pastas -- with no more than 6 grams of protein daily. John drinks a formula containing creatine and other missing nutrients.

''Within days, we started to see him getting stronger,'' says Klor, of Pine Knoll Shores, N.C.

Today at 19 months, John runs and climbs stairs. He's starting to make sounds like ''ma'' but speech is coming more slowly; doctors are optimistic but make Klor no promises.

Only 40 cases of GAMT deficiency have been reported in medical journals, but Duke specialists say creatine disorders probably are underdiagnosed, with symptoms similar to other metabolic diseases. GAMT deficiency may eventually be a candidate for newborn screening, although it's not yet clear if the troublesome substances will show up in blood at birth or if a different test will be required, cautions medical geneticist David Millington. His lab is studying that now.

The work is the latest in a push to expand newborn screening:

--Within two years, Missouri and Illinois are to begin screening for five of the roughly 40 ''lysosomal storage'' disorders, where the microscopic recycling bins inside cells fail, allowing toxic buildup that harms different body parts. They include Pompe disease -- the subject of a soon-to-be-released Harrison Ford movie -- and Fabry, Gaucher, Niemann-Pick and Krabbe diseases.

Currently, New York is the only state to test newborns for a lysosomal disorder, the Krabbe disease that killed the son of former Buffalo Bills quarterback Jim Kelly. The federal government's advisers are considering adding lysosomal disorders to the national screening list, despite few treatments.

--Also under consideration for the national list is the bubble boy disease, formally known as SCID, or ''severe combined immunodeficiency disease.'' Wisconsin is screening newborns in a closely watched experiment to see if SCID and related immune-crippling diseases can be caught in time for babies to get life-extending treatment.
EDITOR'S NOTE -- Lauran Neergaard covers health and medical issues for The Associated Press in Washington.