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.