Another busy week of appointments. He was weighed at baby group last Wednesday and was 17 lbs, which equaled NO weight gain for a week. He did start crawling though, so it wasn't a huge worry. We saw Dr. Robertson on March 22nd and he was doing pretty good. He gained a few ounces. We see her again in 2 weeks.
Wednesday the 24th we went out to Children's Hospital to see the hematology clinic. Parker's blood has been coming back with a high red blood cell count. Not alarmingly high, but higher than a normal baby. * Note: This blood stuff at this point has nothing to do with his MCAD... that's fine * I was pretty upset too because they had not gathered together his blood tests from Lion's Gate Hospital (3 blood tests since birth) so they only had half of the test to look at and come up with the cause for it...which at this point is "unknown".
I am pretty frustrated with Children's Hospital these days. I really really try and not take it for granted. Children's hospital is a half hour drive and he gets the best care in the province. But on the other hand I feel like they could really try and communicate better. The metabolic clinic NEVER updates the next appointment with other specialists, so when I meet these new doctors they want Parker's detailed history since birth and all his blood work and other medical paper work that I do not have. Like my Pediatrician, who did not receive Parker's info until AFTER my appointment with her. She got it in the mail.... the MAIL!!!! It's 2010!!!! E-mail it!!! Fax it!!!! Better yet, give it to me so I can take it to all of his appointments. What am I supposed to do, come in and take notes?! All this medical stuff they are saying to me so overwhelming I don't even know where to start and I wouldn't understand it if I wrote it down myself. I don't understand any of it at all as it is!!
Wow, that got out of control.
Anyways..
We got Parker weighed, measured, temperature and blood pressure taken. Then a specialist came in and gave him is usual poking and prodding work up. Testing his reflexes and checking everything out. I can't remember her name but she had a crazy accent and I couldn't understand half of what she said. She explained how she didn't have all of Parker's paper work but his red blood cell count has slowly gotten higher since he was born. It could be cause by a bunch of things ranging from dehydration (the orginal assumption) or not getting enough oxygen (smoking, carbon monoxide poising, asthma) to Polycythemia and congenital heart disease. None of which sounded good to me. But it could be nothing and will be fine and level it's self out in a few months.
Dr. Woo I think his name was, sat down with us and explain that his high cell count could be caused by a number of things... again. We heard the same thing twice. And then he explained that because he didn't know what is causing it we are going to watch him. There a a few tests we can do, but most are very expensive and very painful, such as bone marrow tests. So we are going to "wait it out". Then he sent us to get ALL of our blood work done and we were sent home. We come back again in 3 months for more blood work, and then we see Dr.Woo in 6 months. Unless the next blood tests come back even worse.
I am trying not to worry because it could be nothing. But when I go in there and I hear this and a bunch of scary sounding disease and told to go home and "wait it out" it makes me want to throw up. So now I am waiting, sweating and practically hyperventilating every time I think about it. So I think I am done thinking for the night.
Thursday, March 25, 2010
Thursday, March 11, 2010
Mess ups = Good news
I went to my doctors yesterday, thinking it was time for my appointment. Turns out, I was a week early. DARN!!! But, my doctor is awesome!! She took a quick look at Parker anyways.
After weighing in, finally some good news!! Parker has gained more weight in 10 days than he has in the last 5 weeks!!! A whole 10 ounces!! That's an ounce a day!! Must be his new feeding routine. More real food, more formula and less boobs on demand. He is really starting to enjoy the formula. I think it's because I came up with a recipe. 120ml water, 2 scoops formula, and 1 scoop of my special ingredient, Polycose!!! Polycose is a powder that tastes like sugar and we are supposed to add it to a bottle or food when he is sick and needs more energy and stuff to breakdown. 3 scoops of Polycose and 120 mls of water is what they want us to use when he is sick. During the last week and a half I have been using my recipe, and now Parker LOVES his formula. The Polycose makes it taste more like breast milk and less like powdered milk. With the recipe I make, he is not getting the entire polycose dose, but that's ok, because he isn't sick. But I feel good giving him a little extra stuff in his food, and I know he is getting enough energy in his body to use. I add my formula/polycose recipe to his baby cereal and in a bottle or sippy for him to drink while I feed him cereal. Then he gets a breast offered after his meal.
Finally he is gaining weight again and I feel much better about the whole thing. Appointment with the blood doctor is coming up... not looking forward to it, but hopefully we will find out whats going on with his blood tests coming back dehydrated. This little guy is a trooper for sure :)
After weighing in, finally some good news!! Parker has gained more weight in 10 days than he has in the last 5 weeks!!! A whole 10 ounces!! That's an ounce a day!! Must be his new feeding routine. More real food, more formula and less boobs on demand. He is really starting to enjoy the formula. I think it's because I came up with a recipe. 120ml water, 2 scoops formula, and 1 scoop of my special ingredient, Polycose!!! Polycose is a powder that tastes like sugar and we are supposed to add it to a bottle or food when he is sick and needs more energy and stuff to breakdown. 3 scoops of Polycose and 120 mls of water is what they want us to use when he is sick. During the last week and a half I have been using my recipe, and now Parker LOVES his formula. The Polycose makes it taste more like breast milk and less like powdered milk. With the recipe I make, he is not getting the entire polycose dose, but that's ok, because he isn't sick. But I feel good giving him a little extra stuff in his food, and I know he is getting enough energy in his body to use. I add my formula/polycose recipe to his baby cereal and in a bottle or sippy for him to drink while I feed him cereal. Then he gets a breast offered after his meal.
Finally he is gaining weight again and I feel much better about the whole thing. Appointment with the blood doctor is coming up... not looking forward to it, but hopefully we will find out whats going on with his blood tests coming back dehydrated. This little guy is a trooper for sure :)
Friday, March 5, 2010
Parker Austin
I wanted to share Parker's life with other parents of kids with MCAD. Especially the parents with new babies and who are probably scared to death, just like I was. I cannot stress enough that MCAD is a totally treatable deficiency!
Parker Austin William was born during the worst heat wave Vancouver has ever seen. He graced us with his presence on July 28th 2009 at 6:52 pm. He was a perfect 7lbs 5ozs and 20.5 inches long. He was awake and alert and latched on the first try. We were sent home at 7pm on July 29th. His big brother Jackson was very happy "his baby" was home. He slept for 4.5 hours that night... little did I know, it could have killed him. I spent the next two weeks taking care of him as any new mom would have. And living by what my mom always said, " Never Wake A Sleeping Baby." It scares me to death every time I think about the first 2 weeks.. because I don't even know how many times I could have lost him, just by letting him sleep.
On August 11th, I got a phone call from our doctor, telling me Parker needed to go back to the hospital and get more blood work done. That afternoon I took the little guy up there for more blood tests. While I was there, my doctor came to see me. She gave me a stack of papers and told me to read it all very carefully. She said she wasn't 100% sure, but his newborn screening came back with a positive test for MCAD deficiency. She explained as best she could what MCAD was and how I could treat it. She said in her entire medical career she had only seen one other case. We talked about his treatment plan, which at the time was only to feed him every 3 hours and to take him straight to the hospital if he got sick of refused to eat. Then she sent me home to wait for blood results.
I went home shocked, scared and with a million questions. I walked in the door crying my eyes out and told my mom everything and handed her the papers. After the shock, I did what any normal parent does... I didn't put the baby down, and I researched everything I could until my eyes hurt and I was so tired . I tried to be smart about my research, because the effects are plastered over the beginning of every website, it scared me to death... but I kept remembering that those effects will happen if the disease is NOT treated. I told myself over and over " we are treating him, he will be fine.. we are treating him, he will be fine." It's is so hard not to scare yourself while looking up diseases on the internet.
On August 20th 2009 we had our first meeting with B.C Children's hospital. His blood test had come back again positive for MCAD, so the needed more blood to send to a special hospital in Seattle.
We again went over his treatment plan and they explained in great detail what MCAD is.
This is a summary of MCAD that I come up with:
MCAD deficiency stands for Medium-chain acyl-coenzyme A dehydrogenase deficiency. We digest and break down a bunch of different chain fats in our body and turn them into energy. Parker is missing the enzyme in his body that breaks down the medium chain fats. Since he cannot break down that chain, he cannot go a long period of time with out food (fasting). If he doesn't eat frequently, his body will run dangerously low on energy, which could send him into a metabolic episode (kind of like a diabetic) such as seizures, coma, liver failure or death. These symptoms can happen very rapidly, so I also have to watch of for vomiting and lethargy, as they can be warning signs of a metabolic episode. MCAD is very dangerous when he is sick. The body uses up more energy when it's sick so Parker has to eat even more frequently than his normal frequent eating schedual. MCAD usually presents it self in newborns or children once they start sleeping through the night, or when they are sick and can rapidly get worse almost undetected.
Untreated MCAD can kill 25% of suffers in the first metabolic episode. Out of the remaining 75% ; 50% of them would most likely have brain damage. MCAD is genetically passed through both parents. We are both carriers of the disease, and every time we have children we have a 25% chance the baby will be perfectly normal, 25% chance the baby will have it, and a 50% chance that the baby will carry the disease. One out of 10,000 - 12,000 (although some sites claim it to be 1-17,000) live births will have MCAD, making it a rare disease. It has only been screened for in British Columbia since 2003. There have been many cases of MCAD related deaths before and after 2003, as a result of not screening for it in certain places. It has gone undetected in some teens and adults and has claimed many lives. I was lucky enough to live in a place that screens for it, and provides the newborn screening. MCAD is a silent killer. It is assumed that 1% of all SIDS deaths are MCAD related.
When treated, MCAD patients can lead normal, healthy lives. Babies with MCAD will be put on a feeding schedule which can be adjusted in time depending on weight and age. They are given a dose of L-Carnitine several times a day, which breaks down and clears out any medium chain fats. They are given polycose (like a sugar) when sick or in need of energy. They are given emergency letters that tell hospital staff what to do if the baby or child is sick and not eating. They are closely monitored through their childhood and anytime they are sick.
On September 24th 2009, our blood tests from Seattle were back and MCAD was confirmed. I spent that evening crying and hugging Parker. I have never been so disappointed, happy, relieved and scared in my entire life. All my feelings were so conflicted. I was so upset that he really did have it, I was relived we knew what it was, happy that I could keep him healthy and alive and scared that I might not be able to keep him healthy all the time.
November 20th 2009 was our second meeting with the metabolics team at Children's Hospital. We started him on Carnitine, took more blood, and went over all the protocols again. I left there feeling much better about the whole thing. 14 lbs 12 ozs
January 6th 2010
Another trip to children's hospital. This time for a routine EKG, Echo and an ultrasound of his liver and kidneys. This is to make sure his organs are functioning properly and are not enlarged. He was great!!! He smiled at all the doctors and never cried once. They said he was the easiest baby to give an ultrasound too. He made me very proud.
January 26th 2010
Our first appointment with our Pediatrician. Dr.Robertson is amazing. She is a very sweet woman and very concerned for us. Unfortunately, Children's hospital hadn't sent over Parker's information so she was very confused on why he was there. It's was a long appointment of me explaining everything since Parker's birth. Starting solid foods!!!
February 24th 2010
Another meeting with Children's hospital. His medication dosage was changed and we took another blood test. :( 3 needles We discussed his eating pattern and solid foods. The doctor was very upset with me for feeding him less than an ounce of water... apparently water does nothing for him so I should not feed it to him. They are concerned about his weight gain and would like me to feed him more and see a lactation consultant.
February 27th 2010
Children's hospital called, Parker's blood test came back saying he is Dehydrated!!!! More blood tests done at Lions Gate hospital :(:( 5 more needles
March 1st 2010
Appointment with Dr. Robertson to discuss blood tests. Apparently he is more dehydrated and needs to go in and get more blood tests and be seen by a blood specialist. Our plan is to feed him more often until we see the blood doctor and get those results back. Weight 16 lbs 8 oz.
Parker is now 7 months and is developing great. Despite the slow in weight gain, he is doing wonderful. He loves his big brother, he loves to eat and is a very bright and happy baby. I will update this as much as I can after every big appointment and milestone. I know we are not out of the woods yet, but Parker is already proving to be a fighter.
Parker Austin William was born during the worst heat wave Vancouver has ever seen. He graced us with his presence on July 28th 2009 at 6:52 pm. He was a perfect 7lbs 5ozs and 20.5 inches long. He was awake and alert and latched on the first try. We were sent home at 7pm on July 29th. His big brother Jackson was very happy "his baby" was home. He slept for 4.5 hours that night... little did I know, it could have killed him. I spent the next two weeks taking care of him as any new mom would have. And living by what my mom always said, " Never Wake A Sleeping Baby." It scares me to death every time I think about the first 2 weeks.. because I don't even know how many times I could have lost him, just by letting him sleep.
On August 11th, I got a phone call from our doctor, telling me Parker needed to go back to the hospital and get more blood work done. That afternoon I took the little guy up there for more blood tests. While I was there, my doctor came to see me. She gave me a stack of papers and told me to read it all very carefully. She said she wasn't 100% sure, but his newborn screening came back with a positive test for MCAD deficiency. She explained as best she could what MCAD was and how I could treat it. She said in her entire medical career she had only seen one other case. We talked about his treatment plan, which at the time was only to feed him every 3 hours and to take him straight to the hospital if he got sick of refused to eat. Then she sent me home to wait for blood results.
I went home shocked, scared and with a million questions. I walked in the door crying my eyes out and told my mom everything and handed her the papers. After the shock, I did what any normal parent does... I didn't put the baby down, and I researched everything I could until my eyes hurt and I was so tired . I tried to be smart about my research, because the effects are plastered over the beginning of every website, it scared me to death... but I kept remembering that those effects will happen if the disease is NOT treated. I told myself over and over " we are treating him, he will be fine.. we are treating him, he will be fine." It's is so hard not to scare yourself while looking up diseases on the internet.
On August 20th 2009 we had our first meeting with B.C Children's hospital. His blood test had come back again positive for MCAD, so the needed more blood to send to a special hospital in Seattle.
We again went over his treatment plan and they explained in great detail what MCAD is.
This is a summary of MCAD that I come up with:
MCAD deficiency stands for Medium-chain acyl-coenzyme A dehydrogenase deficiency. We digest and break down a bunch of different chain fats in our body and turn them into energy. Parker is missing the enzyme in his body that breaks down the medium chain fats. Since he cannot break down that chain, he cannot go a long period of time with out food (fasting). If he doesn't eat frequently, his body will run dangerously low on energy, which could send him into a metabolic episode (kind of like a diabetic) such as seizures, coma, liver failure or death. These symptoms can happen very rapidly, so I also have to watch of for vomiting and lethargy, as they can be warning signs of a metabolic episode. MCAD is very dangerous when he is sick. The body uses up more energy when it's sick so Parker has to eat even more frequently than his normal frequent eating schedual. MCAD usually presents it self in newborns or children once they start sleeping through the night, or when they are sick and can rapidly get worse almost undetected.
Untreated MCAD can kill 25% of suffers in the first metabolic episode. Out of the remaining 75% ; 50% of them would most likely have brain damage. MCAD is genetically passed through both parents. We are both carriers of the disease, and every time we have children we have a 25% chance the baby will be perfectly normal, 25% chance the baby will have it, and a 50% chance that the baby will carry the disease. One out of 10,000 - 12,000 (although some sites claim it to be 1-17,000) live births will have MCAD, making it a rare disease. It has only been screened for in British Columbia since 2003. There have been many cases of MCAD related deaths before and after 2003, as a result of not screening for it in certain places. It has gone undetected in some teens and adults and has claimed many lives. I was lucky enough to live in a place that screens for it, and provides the newborn screening. MCAD is a silent killer. It is assumed that 1% of all SIDS deaths are MCAD related.
When treated, MCAD patients can lead normal, healthy lives. Babies with MCAD will be put on a feeding schedule which can be adjusted in time depending on weight and age. They are given a dose of L-Carnitine several times a day, which breaks down and clears out any medium chain fats. They are given polycose (like a sugar) when sick or in need of energy. They are given emergency letters that tell hospital staff what to do if the baby or child is sick and not eating. They are closely monitored through their childhood and anytime they are sick.
On September 24th 2009, our blood tests from Seattle were back and MCAD was confirmed. I spent that evening crying and hugging Parker. I have never been so disappointed, happy, relieved and scared in my entire life. All my feelings were so conflicted. I was so upset that he really did have it, I was relived we knew what it was, happy that I could keep him healthy and alive and scared that I might not be able to keep him healthy all the time.
November 20th 2009 was our second meeting with the metabolics team at Children's Hospital. We started him on Carnitine, took more blood, and went over all the protocols again. I left there feeling much better about the whole thing. 14 lbs 12 ozs
January 6th 2010
Another trip to children's hospital. This time for a routine EKG, Echo and an ultrasound of his liver and kidneys. This is to make sure his organs are functioning properly and are not enlarged. He was great!!! He smiled at all the doctors and never cried once. They said he was the easiest baby to give an ultrasound too. He made me very proud.
January 26th 2010
Our first appointment with our Pediatrician. Dr.Robertson is amazing. She is a very sweet woman and very concerned for us. Unfortunately, Children's hospital hadn't sent over Parker's information so she was very confused on why he was there. It's was a long appointment of me explaining everything since Parker's birth. Starting solid foods!!!
February 24th 2010
Another meeting with Children's hospital. His medication dosage was changed and we took another blood test. :( 3 needles We discussed his eating pattern and solid foods. The doctor was very upset with me for feeding him less than an ounce of water... apparently water does nothing for him so I should not feed it to him. They are concerned about his weight gain and would like me to feed him more and see a lactation consultant.
February 27th 2010
Children's hospital called, Parker's blood test came back saying he is Dehydrated!!!! More blood tests done at Lions Gate hospital :(:( 5 more needles
March 1st 2010
Appointment with Dr. Robertson to discuss blood tests. Apparently he is more dehydrated and needs to go in and get more blood tests and be seen by a blood specialist. Our plan is to feed him more often until we see the blood doctor and get those results back. Weight 16 lbs 8 oz.
Parker is now 7 months and is developing great. Despite the slow in weight gain, he is doing wonderful. He loves his big brother, he loves to eat and is a very bright and happy baby. I will update this as much as I can after every big appointment and milestone. I know we are not out of the woods yet, but Parker is already proving to be a fighter.
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