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.