Sunday, August 21, 2011

Dr. Joseph Clark Announcement- Cincinnati Children's Hospital

The following is from Dr. Joseph Clark of Cincinnati:

As I hope many of you know I am dedicated to the study, diagnosis and treatment of the creatine transporter deficiency disorders called: GAMT, AGAT and CTD. I have blogged on these subjects several times before and have an announcement. Here in Cincinnati we (University of Cincinnati and Cincinnati Children’s Hospital Medical Center*) are launching the first of its kind diagnostic for all three diseases. Previously patients often had to have multiple doctor’s visits and can take many months to get a diagnosis. Now, gone are the hassles of sending samples to three different labs, that were collected in different ways at different times. One visit, one collection method and one lab can do the genetic diagnosis. The launch of this new service is August 1 2011. More info about this service can be found here: http://www.cincinnatichildrens.org/svc/alpha/h/genetics/labs/cytogenetics/default.htm?WT.mc_id=100439&utm_campaign=Human-Genetics&utm_content=cytogenics&utm_medium=Web-Print&utm_source=Shortcut

This one stop shop concept for the diagnosis of the creatine deficiency syndromes will save time and angst for the doctor, patient and caregiver and is especially important as these diseases, when treatable, require early treatment to achieve optimal benefits. There are many anecdotal stories of families who have identified a deficit with their child at an early age but take years for a diagnosis. The late diagnosis often leads delay in treatment and can result in prolonged deficits in the patients. Time is brain for many of these patients and our new system will save time.

We are happy about the launch of our new diagnostic technology. Please spread the word to patients, doctors and advocates so that we can diagnose these patients early and effectively. Check out our facebook group https://www.facebook.com/#!/groups/127389967322193/ for future updates and more discussions on the creatine deficiency syndromes. Watch this space as well to see what we will be rolling out as we continue to work to help caregivers and patients with creatine deficiency syndromes.

Questions about the test can be sent here: moleculargenetics@cchmc.org, Questions about creatine deficiency syndrome research in Cincinnati can be sent to joseph.clark@uc.edu.

*Please note, I am not a representative of the University of Cincinnati and/or Cincinnati Children’s Hospital Medical Center, but want to make everyone aware of what these outstanding institutions are doing.

John's Progress - 3 years old

John says approximately 50-75 words now. He can put two words together pretty good now “Mom watch” “Dad ball” “Mom come” and recently I’ve heard him put 3/4 words together…… he says oonnne, twoooo, eeee, go!

His speech therapist tested him back on March 3rd and he has made tremendous progress since this report. Back in March (2years 9 months old) He received a receptive language standard score of 104 and standard scores of 85-115 indicate age appropriate skills. And his age equivalence score put him at 2 years 11 months and he was only 2 years 9 months old at the time, so he actually scored above his age for receptive language skills. I think this has to do with the fact that he couldn’t talk very well, so the poor kid became a very good listener!  Receptively John was able to complete the following tasks: 1. Identify colors, 2. Make inferences. 3. Understand expanded sentences (“Point to the white kitten that is sleeping”) John received an expressive language standard score of 70 and age equivalence of 0 years 6 months. Expressively, John was able to complete the following tasks: 1. Imitate words (ball), 2. Use 5 to 10 words 3. Use vocalizations and gestures to request toys or food. John was Unable to 1. Produce different types of consonant-vowel combinations, 2. Name objects in photographs 3. Ask questions.

John’s gross motor skills are excellent! He runs, jumps, does the monkey bars with just a little support, can climb up a slide, jumps from 3 feet in the air and lands on his feet, climbs a rope ladder, walks a balance beam, his balance is excellent, he can kick a ball, throw a ball, he can even sometimes hit a ball with a bat when you throw a ball to him, but he is probably only hits about 2 out of 10 pitches, but I’m sure that for his age that is probably excellent. I’ve even had some parents think that he is 4-5 years old when they see him playing on the playground and I think part of that is that he has no fear and he is so light that I think he just moves very easily.

His fine motor skills are ok. He has good movement in his hands, but it is just a matter of strength and not dexterity. He has a hard time pinching off a piece of play dough or pressing really hard on it. It is hard work for him. He is just now learning how to pull off one of his socks and it is hard for him. He struggles pulling up or down on his pants and I think that is because he can’t get a good pinch on them. He has just recently learned how to take off his shoes, but he is a long ways off from learning to put them on and I think that is something he should know how to do by now. He can’t do buttons.

Saturday, April 9, 2011

John's original MRI results

I just thought this might be interesting to post. I often have mother's of undiagnosed children that contact me when they stumble upon information on my blog. I thought I might post this in case anyone searches for a similar MRI result. John's original MRI from when he was a year old showed evidence that he had some damage in his brain. The report read: There is abnormal T2 signal hyperintensity in the globus pallidus bilaterally. There may be slightly restricted diffusion in association with this abnormality. The rest of the report just goes into detail that everything else is normal.

Tuesday, March 8, 2011

John's Words

I was asked recently to make a list of all the words John is now able to say. He has made some great progress recently. Most of these words he still does not say the way we would say them and some are probably only understood by us, but here is his list and a simi interpretation of the sound.

Bye - bye
Hi - ayyee
up - paah
off - aawwf
on - aann
Bubbles - buh buh
pop - paahh
hot - haaah
yes or yeah - aah
Emma (the dog) - EEEEhh (in a loud voice, just like we call to her)
dad - AAAAhhhhd (he yells for him too)
blue - boo
purple - puh puh
Green - eeenn
Please - ease
Help - eeellp (yelling again)

Iron

We found out recently that John has an iron deficiency, so he is now on an iron supplement. That means 4 supplements now, three times a day!

Wednesday, February 2, 2011

WRAL News Story On GAMT - FEB 2010

THIS VIDEO IS A YEAR OLDER THAN THE POST DATE. I was doing some searching online and I ran across the video of John that was taken a year ago. I can't believe how much has changed even since then. I know I might have posted a link on here to it before, but I found a way to actually put it on my blog and I wanted to have it on here, if even just for myself to look at a few years from now. They grow up so fast!

Tuesday, January 25, 2011

Another Child with GAMT makes GREAT progress!!

I know Celia's parents are so very proud of her!!! And I can't help but be just as proud and want to brag on her! I am so excited for them and for her! For anyone that catches this diagnosis early, this should give you some great hope. Celia was diagnosed at 14 months old and is 27 months old in this video, so she has been on treatment for a little more than a year in this video. Go Celia!!!


Creatine Deficiency Support Group

Dr. Joseph Clark has started a group on facebook called Creatine Deficiency Support Group. I think there are a few people that follow my blog that have some children with the Creatine Transporter and/or AGAT and this new group on facebook is for everyone with Creatine Deficiency and also for anyone looking for answers to an undiagnosed disorder, this may give you some more information. Here is a link to the group: http://www.facebook.com/home.php?sk=group_127389967322193&ref=ts

Friday, January 21, 2011

Starfall

My mother-in-law Sylvia showed me a website that has been very helpful in getting John to make more letter sounds. It is called www.starfall.com. We click on the ABCs and then John points to which letter he wants to watch. He will repeat some of the sounds like the "S", "P", "O", "F" etc.

This morning when John came running into my room I thought I heard him saying "T, T, T ooon." We usually wake up in the mornings by watching a little bit of cartoons and I always ask him if he wants me to turn on "toons" for him, so I think this morning he was trying to say it to me as I lay there half asleep in bed. He also now says "Ph, Ph" for please.