Wednesday, December 30, 2009

Another Family with GAMT

I don't know why I haven't posted this on here sooner. Heidi has a daughter named Samantha that was diagnosed around the age of 5 with GAMT. You can read more about here story at www.teachingsamantha.blogspot.com

Wednesday, December 9, 2009

Medical Information for GAMT Families

John's Weight since Infancy
7-13-08 (1 month)------ 12.2 lbs
8-6-08 (2 months)------11 lb 15 oz -------50%
9-10-08 (3 months)-----13 lbs 15 oz
10-2-08 (4 months)-----14 lbs 1 oz--------25%
12-2-08 (6 months)-----16 lbs 7 oz--------25%
3-1-09(9 months)------ 18 lbs 1 oz---------5% (big weight drop)
7-2-09 (13 months)-----18 lbs 14 oz ----- less than 3%
We started his treatment at the 13 month old visit
9-2-09 (15 months)-----20 lbs 15oz-----6% (weight back on chart)
12-9-09 (18 months) ---23.5 lbs ------30% (weight back up)


John's Height & Head Circumference
Both of these numbers have been fine since infancy. They have fluctuated from 90% to 50%, but never went below 50%. As of 12-9-09 his height is 32.25 (50%) and head circumference is 19.25 (75%).


6-5-09 - MRI performed at ECU and blood & urine samples drawn. Blood & Urine sent to Duke for processing. MRI revealed abnormal signals in the globus pallidus.
6-15-09 - Urine organic acids completed at Duke revealed general elevation of metabolites relative to creatinine, suggestive of a possible creatine synthesis disorder.
6-22-09 - creatine & guanidinoacetate levels were measured in urine and plasma and were consisten with GAMT deficiency (elevated guanidinoacetate and low creatine)


Medical literature that is being followed to use in John's treatment. "Presymptomatic treatment of creatine biosynthesis defects" by Schulze and Battini, published in 2007 in the textbook "Creatine and Creatine Disorders in Health and Disease."

Guanidinoacetate Levels in Blood { .10 -1.70 normal range)
6-8-09 --- 27.4
6-22-09 --- 30.4
8-12-09 --- 11.7
9-21-09 --- 5.4
11-5-09 --- 4.5
12-21-09 --- 3.8
4-5-10--- 4.3
6-7-10 --- 4.0

Guanidinoacetate Levels in Urine {4.3 - 192.0}
6-8-09 --- 5896
6-22-09 --- 9604
8-12-09 --- 567
9-21-09 --- 354
12-21-09 --- 232
4-5-10 --- 242
6-7-10 --- 210

Creatine - Levels in Blood {3.0 -114.0 normal range}
6-8-09 --- .6
6-22-09 --- .6
8-12-09 --- 210.9
9-21-09 --- 469.0
11-5-09 --- 885.4
12-21-09 ---461.7
4-5-10 --- 496
6-7-10 --- 605

Creatine - Urine {4.9 - 1319.0 normal range}
6-8-09 --- 14
6-22-09 --- 15.0
8-12-09 --- 10073
9-21-09 --- 2905.9
12-21-09---9360
4-5-10 ---
6-7-10---

Creatinine - Blood { .63 - 73}
6-8-09 --- 1.5
6-22-09 --- 1.4
8-12-09 --- 17.8
9-21-09 --- 21.6
11-5-09 --- 22.9
12-21-09---25
4-5-10 --- 24.1
6-7-10---28.8

Creatinine - Urine { .2 - 10}
6-8-09 --- 0.1
6-22-09 --- 0.04
8-12-09 --- 3.7
9-21-09 --- 1.0
12-21-09---2.7
4-5-10 --- 6.3
6-7-10 --- 1.4

Prealbumin {18 -45 normal range}
9-21-09 --- 24.8
12-21-09 --- 17.1
4-5-10 --- 10.9
6-7-10 --- 13.1

Sunday, December 6, 2009

Raleigh News & Observer Story

I can't believe that John's story made the front page of the Raleigh News & Observer. It is so incredible how many people I've heard from that have read the story and I'm sure it is helping to raise awareness about the disorder. I only hope that it helps more children and more families!

Here is a link to the article:
http://www.newsobserver.com/news/local_state/story/227892.html

Wednesday, December 2, 2009

Lab Lines Article published by Duke

CREATININE GIVES CLUE TO DIAGNOSIS OF A TREATABLE
RARE INHERITED NEUROLOGICAL DISORDER
Jennifer Goldstein, PhD, Clinical Research Coordinator—Pediatric Medical Genetics
Volume 7, Number 4

In clinical laboratory science, a keen eye for detail can make all the difference to the life of a patient. At first glance, the trace of a specialized urine test for a 12 month-old boy looked normal. However, one peak held the key to the diagnosis, and ultimately a treatment, for this patient.

When he was about 4 months old, the patient’s mother became concerned that he was not developing normally and she noticed some unusual movements of his limbs (choreoathetosis). The pediatrician confirmed her concerns and recommended a neurology evaluation. The neurologist told the parents that lack of oxygen at birth had caused cerebral palsy. While the parents were beginning to adjust to this diagnosis, another doctor, a neurodevelopmental specialist, wondered if the patient’s symptoms might, instead, be caused by an inherited metabolic disorder. There are hundreds of different metabolic disorders, problems caused when the body cannot make or breakdown certain compounds correctly, and most of them are very rare. Many metabolic disorders can be detected by measuring metabolites in urine and blood – so, when the patient was 12 months old, the doctor sent samples to the Duke Biochemical Genetics Laboratory, which performs these specialized tests.

The pattern of peaks of metabolites in the patient’s urine looked normal, but a peak representing a compound called creatinine seemed lower than usual. To make sure that the results were not caused by a lab error, Dr. Sarah Young, assistant director of the Biochemical Genetics laboratory, asked technician Eileen Gilbert to repeat the test. Eileen had just completed her training and this sample was the very first sample she had run independently. The repeat analysis gave exactly the same result. Dr. Young considered another explanation for the patient’s results – that the low creatinine could be a sign of a creatine deficiency syndrome.

Dr. Young recommended to the referring physician another metabolic test that could be performed on the same urine sample. Mixing a small volume of urine with isotope-labeled standards, technician Amie Vaisnins-Carroll performed an assay that measures creatine and its precursor, guanidinoacetic acid (GAA). This test was recently developed by the Biochemical Genetics laboratory to screen for several creatine deficiency disorders. The laboratory is one of a few in the USA that performs this specialized biochemical testing using state-of-the-art tandem mass spectrometry technology. The results confirmed Dr. Young’s suspicion - the patient
did indeed have a rare disorder that affects the synthesis of creatine. Specifically, high amounts of GAA and low creatine showed that the patient was lacking the enzyme that converts GAA to creatine, an enzyme called guanidinoacetate methyltransferase (GAMT).

Why would lack of creatine cause a problem? Creatine is important in providing energy to the brain as well as muscle and other tissues. Lack of creatine in the brain causes a range of neurological symptoms including developmental delay, lack of speech, seizures, movement disorder, mental retardation and autism. Patients with GAMT deficiency also have high levels of GAA, which is thought to be toxic to the nervous system, making the symptoms more severe. GAMT deficiency was not discovered until 1994 and since then about 40 patients worldwide, only a few of them in the USA, have been reported in the medical literature. Researchers
soon recognized that supplementing with creatine, as well as dietary modifications to reduce the amount of GAA, could treat GAMT deficiency. In older patients with GAMT deficiency who had already developed many of the symptoms, seizures disappeared after they started treatment, and movement disorder and behavioral problems also improved.

The patient with GAMT deficiency is now treated in the Metabolic Clinic by Dr. Dwight Koeberl at Duke University Medical Center. The patient’s family has been very conscientious about his treatment, administering the recommended four treatments a day and a low protein diet. Few children have been treated from such a young age, so it is not possible to predict his future outcome. However, treatment is expected to prevent other symptoms of the condition, such as seizures, from occurring, and the patient has already made great developmental progress. His mother feels like her son “has been given another chance at life”, but it is hard for her to think about what would have happened if the disorder had not been diagnosed early.

Creatine deficiency syndromes, including GAMT deficiency, are rare, but they are almost certainly underdiagnosed. Deficiency of the creatine transporter, which is inherited on the X-chromosome, is probably the most common of the three known creatine deficiency syndromes. One of the difficulties in diagnosing these conditions is that the symptoms are variable and also occur in many other disorders. However, with the availability of specialized biochemical tests to measure creatine and GAA, testing for these disorders is straightforward, and can lead to treatment that could be life-changing for patients and their families.

To date, the benefits of treatment in preventing symptoms appear to be greatest when the treatment is started from a young age suggesting that early diagnosis may be critical. This has led researchers to start looking into the possibility of screening all newborn babies in NC for this condition, a move for which families are strongly advocating.

Tuesday, December 1, 2009

Able to stand on tip-toes

I noticed today that John is able to pull up onto the counter to reach something and lift up onto his tip-toes! I know to some this may seem small and not very significant, but to us it is another great accomplishment for John.

Tuesday, November 17, 2009

John learning to ride

video

John & Emma sharing cookies - AUGUST 2009

video

This is an older video from August 2009, but I though it was cute and wanted to share. This was when John started to become verbal again after starting his treatment.

John is Walking

John took his first two steps on Oct. 19th. Last Monday, November 9th he started walking totally independently. All it took was the therapist showing him how to get back up when he was in the middle of the room and didn't have anything to pull up onto and it was like he got it and hasn't stopped since. Occasionally he crawls when he wants to go really fast, but most of the time he is walking now.

I thought for the GAMT mommies and any future mommies I would make a brief outline of his major milestones. I am also working on getting his levels from Duke from the start of his treatment so that I can post those along with the dates.

Major Milestones

Rolled Over
- Nov. 7, 2008 (apx. 5 1/2 months old). However, he only did this for a few days and then it stopped and it wasn't until working in therapy that he kinda started to roll again, but only from his back to belly if he really tried.

Started Treatment - July 2, 2009 (apx. 13 months old)

Crawling - apx. 14 months old

Cruising - apx. 15 months old

Walking - took 1st steps on Oct. 19, 2009 (almost 17 months old). Started walking more than crawling Nov. 9, 2009.

Wednesday, October 14, 2009

Thoughts For Duke's Presentation

Duke asked me to write something on how I felt about John's diagnosis and everything that we have been though. It was kinda hard to write as I didn't know where to begin and how to sum everything up. Of course there was a lot that I left out of here, but this was what I was able to come up with in a short period of time.

Life for my son John started out a little rough. His umbilical cord was wrapped so tightly around his neck that it had to be cut before his complete delivery. He looked very pale, limp and wasn’t crying. His apgar score was a 4 at one minute and a 5 at five minutes. He was put on oxygen immediately. About 24 hours later he was allowed to come off and for the first time I was able to hold my newborn son. At about 4 months old I started to notice some small differences in my son and some of the children that were his age. It wasn’t until 6 months old that the differences became apparent enough that I knew something was wrong, but knowing it deep down and hearing a doctor confirm your worst fears are two totally different feelings. It was at his 6 month old check-up that the pediatrician referred us to a neurologist. Based on John’s clinical symptoms and his birth history the neurologist told us that John had cerebral palsy. Unfortunately the neurologist let some of her personal experiences guide what she told us and we left the office that day not knowing if we should schedule an MRI for John or not. A few months later I took John to see a neurodevelopmentalist and while the neurodevelopmentalist told us that John had cerebral palsy, she strongly encouraged that we have an MRI done to confirm this diagnosis. She also ordered genetic testing to rule out anything else. Our first attempt at getting John’s MRI done was not successful and it wasn’t until he was 12 months old that we were finally able to complete his MRI. I’d had a lot of ups and downs up until this point, but I would say that getting the results back of his MRI was probably the worst I had to deal with. I had already come to terms with cerebral palsy and had learned everything I could about the disorder and how to give John the best life he could have while dealing with his condition. I had prepared myself for the fact that the MRI would show damage in his brain because he had cerebral palsy. I wasn’t prepared to learn that he didn’t have cerebral palsy, but instead it could be a mitochondrial disorder or a metabolic disorder. It took me by surprise and at first I didn’t believe it. I thought somehow the radiologist didn’t know what they were talking about because John had cerebral palsy, but then the doctor called late that night and explained everything to us. While we waited on the results of the blood work I feared the worst. It was about a week later while we were on vacation in Missouri that we received a phone call from his doctor saying they thought John had a creatine disorder. After getting as much information as I could from the doctor I began to look up the possibilities that she had listed. While reading the medical journals about GAMT I just remember thinking to myself, “That’s it. That’s my son. Well except for the seizure part and he isn’t mentally retarded, but all the other symptoms fit him.” Unlike cerebral palsy, GAMT is treatable so I began to hope that this was what John had and after the previous week of fearing the worst, I needed some hope at that moment. Despite the fact that a lot of the symptoms of GAMT seemed to fit John, part of me still didn’t believe that John could possibly have it because it was so very rare. On our way home from vacation we stopped by Duke University to have his blood drawn. I looked at the vile to read what the label said because I wanted to know what they were testing him for and when I saw the word Guanidinoacetate I started to smile because I just felt like I was one step closer to having the answer and I was hopeful that this was it. When we finally received confirmation from the doctors at Duke that John had GAMT I mostly felt relieved. I had lots of questions for the doctors and I wanted to learn as much as I could so that I could help to make him better as fast as possible. I don’t think I realized he was going to be on such a strict diet until we finally started talking to the nutritionist. Part of me was a little sad for John that he was going to be on this very restricted diet the rest of his life, but, the other part of me knew that this was going to make him better, so if it meant I was going to have to teach him at a younger age that life wasn’t fair and he was going to have to just suck it up and eat only fruits and vegetables, well then that was what I was going to do. And I couldn’t quit thinking that a lot of people have a lot worse problems and I don’t know that in comparison you can really consider having to eat healthy the rest of your life a problem. After everything we had been through, this was an answer to prayer. GAMT is treatable and because we caught it early enough we are hopeful that John will make a full recovery. John has received treatment for 3 months now and it has been the most exciting and incredible 3 months of my life. I feel like the doctors at Duke have given me back my son and I can’t thank them enough for that. His personality has come back to life and just hearing him laugh out loud again makes me so happy. Everyone that has watched his physical development over the last 3 months calls him the miracle baby and it really has been a miracle to watch. Things that he struggled to do before now come so easily to him. John is making leaps and bounds in his physical development and even his fine motor skills are starting to improve, but I am still a little concerned about his speech. I feel like he will eventually learn to talk, but I just worry about him getting frustrated in the next year or two while he starts to understand more, but isn’t able to communicate with us. However, the hardest thing for me to think about is what would have happened to John if we hadn’t caught his disorder early enough. It’s very scary for me to think of what he would be like today if we hadn’t caught it. It’s sad to think that there are probably other children out there that are slowly dying inside like John was and haven’t received the correct diagnosis because there isn’t as much awareness about GAMT as there should be. I feel sorry for the mother that has to be told that their child has this disorder, but it’s too late and now there isn’t as much hope as I have been given for John. I want to do whatever I can to help bring awareness to this disorder. John has been given another chance at life and when I look at his future I see only great things. I don’t think of GAMT as a negative thing, but rather as something that saved my son. And who knows, maybe his first word will be Guanidinoacetate Methyltransferase deficiency!

John is Cruising


John has been cruising along furniture for a few weeks now. I need to find the time to really write the specifics down on here and update my blog, but he has been keeping me pretty busy lately.


Saturday, September 5, 2009

John's current formula


John weighs 21 lbs and here are his supplements.

His two formulas are made by Mead Johnson (the makers of Enfamil). Right now I give him 61 grams of WND-1 (Non-essential amino acid-free diet powder) This one has protein in it and this is the way he is getting some of his protein. And I mix that with 60 grams of PFD (protein-and amino acid-free diet powder). This one doesn’t have protein. I mix those both with 24 oz of water in a Rubbermaid jug and I give that to him throughout the day. It is very, very sweet smelling. It smells like a milk-shake and it really doesn’t taste bad at all.

Ornithine Aspartate 2.5 ml 6x a day
Creatine Monohydrate 2ml 6x a day
Sodium Benzoate 1ml 3x a day

Tuesday, September 1, 2009

John is crawling & pulling up

John has really started to crawl from room to room and has been doing this for about 2 -3 weeks now. He also started about a week ago to really be able to pull himself up to standing. It has been so great to watch all the progress. He has also put on a few pounds from the new diet & supplements.

Tuesday, July 28, 2009

John is crawling

John started crawling about 3 days ago. He is really doing great! He crawls on all fours a few times and then drops down to his belly and pulls himself with his arms. We are so excited!

Monday, July 20, 2009

More Progress

This morning I was very surprised to see John sitting up in his crib when I went to get him. It was the first time he has ever gone from being flat on his back to sitting up all by himself. He can usually do it with minimum help, but this was definitely a first.

Thursday, July 16, 2009

Starting to Crawl

Yesterday John made his first movement forward!! He kinda half rolled/half army crawled, but he made forward progress about a foot across the floor. I know it isn't much, but he is getting stronger every day. I tried to encourage him to do it today, but no such luck.

Monday, July 13, 2009

Supplements and Food

John's supplements

Ornithine - 2.5 ml 6 times a day (this would be a lower dose, but the pharmacy had to dilute it)Creatine - 2 ml 6 times a day
Sodium Benzoate - 1 ml 3 times a day

John's Formula - made by Mead Johnson (makers of Enfamil)
92 g of WND 1 (Non-essential amino acid-free diet powder)
55 g of PFD 1 (Protein - and amino acid-free diet powder)
Mix this with water and fill to make 32 oz

John is at the stage right now where he is trying to make the transition from baby food to solid and this hasn't been easy since most of the time you would start with a lot of soft pastas. Right now the only really solid foods that I can feed him are bananas, cantaloupe, boiled zucchini, squash & carrots. Other than that he eats stage 2 & stage 3 fruits & vegetables.

Saturday, July 11, 2009

July 11th

John is continuing to improve. So far he has pulled up onto his knees once by himself. Also, I've noticed that the constipation issues that we used to have with John went totally away by about day 2 of treatment.

Wednesday, July 8, 2009

Day 6 of Treatment

John is doing very well with his treatment. The first 2 days he did a lot of sleeping. I don't know if this was because we had been taking so many trips and he was just catching up or if it had to do with his body changing, or maybe a combination of both. But I started seeing a difference in him within 1-2 days. His muscles started to look and feel stronger. He also now never spaces out anymore and seems much more alert. He is also much more steady on his feet when I help him to stand. I'm really excited about the progress he is making and I feel like it won't be long now before he starts crawling - I can't wait!

John's New Diagnosis - GAMT


Guanidinoacetate methyltrasferase deficiency – Say that one ten times fast!!

So it’s been a year of a lot of Ups and Downs. It’s been stressful and worrisome, BUT with that has come great joy and blessing in our life from John!! We thank God everyday that John was given to us.

Monday we spent 6 hours TALKING to doctors at Duke University. They were all very good and I was very impressed. We spoke to a geneticist, a neurologist, a dietitian, a nutritionist and a few other doctors. John tested positive for Guanidinoacetate methyltrasferase (GAMT). He does not have CP. His difficult birth and some of his symptoms (like his poor muscle tone, constipation, and even some of the ways his body moves) are similar to a type of CP that is often related to lack of oxygen during delivery, so from the start the doctors were thrown off into looking in that direction. I feel very fortunate to have found the doctor in Wilmington, Dr. Karen Harum. She was the one that ordered all of the genetic testing on John and if she had not done that we would never have found his true diagnosis. If left untreated GAMT can cause severe mental retardation, seizures, very weak muscles that cannot be fixed and autistic like characteristics.

John is the very 1st case of GAMT at Duke University. It is a VERY rare metabolic disease. So they are very interested in studying John and writing reports on him. They said John is about the 6th child to be diagnosed in the United States and there are only a few dozen cases worldwide. I hear slightly different numbers from different people. It is autosomal recessive – meaning both Wes & I have a recessive gene that we have a 25% chance of passing on to future children.

So what is John’s treatment? He has to take 2 supplements six times a day and a third supplement three times a day. Then he has to drink an amino acid formula and he is on a very restricted no/low protein diet. He will get very small amounts that I will have to keep track of and count throughout the day. He basically isn’t able to break down the protein into creatine, and these toxic levels have been building up inside of him.

The outcome for John looks very well. The two children that Duke told us about where the children were still young when diagnosed are now doing very well by using this same treatment plan. We are hoping that John is going to catch up within the next 2 years. The doctors at Duke want to do an EEG and a SPEC scan on John so we have more base tests on him so we can see how he is improving.

Choline Supplement

I've decided to condense all of the information I have on the choline supplement into one blog entry. My son was diagnosed with cerebral palsy at 6 months old. At 7 months old I gave him a choline supplement called PhosChol. www.phoschol.com. I saw an immediate positive change in my son. He started holding onto objects longer and his tight clenched fits began to loosen up within an hour. He started sitting within 2 weeks and he became much more aware of his surroundings. It is a very gross tasting supplement, but it really helped John. I contacted researchers on choline at UNC Chapel Hill (Dr. Steven Zeisel). He is studying how choline effects memory in children. I have a copy of his full study if anyone is interested. Also, you can visit www.cholinebaby.com for more information on choline. I spoke with a few other parents that have children with cerebral palsy that have given a choline supplement to their child at a young age and also saw positive results. I was giving my son aproximately 3ml of choline a day until recently. My son is now 13 months old and has been given a different diagnosis from Duke University. None of the doctors have said that the choline would be bad for John, but given his new diagnosis and the fact that they have a treatment for it with different supplements that they know have worked in the past, they would like for me to stop giving John the choline. All of John's doctors at Duke were very interested in what I told them about the choline and one of them even said it would be a good thing to study for children with cp. I'm going to keep asking them about it and I'm going to share with the doctors the information I've collected, so maybe someday one of them will do a study on it.