Hello! finally a moment to leave a note. We are doing well, Abram is over a cold and constant diarrhea so mama and dad are getting better rest. He had his first Christmas with our good friends, the Durans, last night and seemed to be worn out today from it all. He received a ton of toys and the cutest outfits! He had a great time and seemed to be in the Christmas spirit! We continue to visit doctors about once a week. Abe's liver is slightly enlarged and the docs are trying to find out why. Nothing real obvious. He had a swallow study and we learned that Abram aspirates thin liquids so he is not on the bottle right now, but taking in bites of babyfood and pureed food that is thickened. Friday we will attend an occupational therapy consult which will hopefully teach us how to feed abram his formula. We were making some progress with oral feedings, slow, but progress - until we learned he was aspirating and had to stop, hopefully only temporarily. We are so busy keeping the house spic and span for showings as we look for ranch style home for Abram to live in as we expect stairs will tire him easily, and since I can't return to work we need to downsize a bit. Sad that we have to leave our first house where we have so many memories, and the comfort of knowing only we have lived here so we know what germs are here! But we will take these memories, and clorox wipes, to the next house and make it our home. That's all for now. Love to all, Erin

BELOW IS AN ARTICLE ABOUT A LITTLE GUY IN TEXAS WITH BARTH'S...COPY AND PASTE IN YOUR BROWSER WINDOW...

http://www.oaoa.com/news/keli_10638___article.html/holly_boy.html

http://www.oaoa.com/news/keli_10638___article.html/holly_boy.html

Great News

On our wayto the doctor for immunizations, so not a lot of time to write. But, wanted to pass along that Abram had an echo of his heart yesterday and the ejection fraction is 59%! Normal is 60=75%, we are exstatic with this news. The medications are working and he will probably have to be on the forever, but we are thankful they are working! More later. . .

Hello! I am having a hard time finding the time to blog about Abram so am going to try something new. I will perioodically, hopefully a couple times a month, send out updates on Abram with pictures. I may still use the blog, but again, it's hard to find the time to log in and talk. Please send me your email address if I don't already have it at emiller14@sbcglobal.net. Thanks!

Abram had another appt with the GI yesterday who is making referrals to the endocrinologist to help find out if Abram has hypoglycemia, something commonly found in boys with Barth's. We need to know before tapering down feeds at night, and prior to any surgeries for fasting reasons. We are looking at Abram possibly getting a Mic-key, as I might have mentioned in the previous blog. We are also scheduled to see a urologist and have an ultrasound of Abe's kidneys and bladder. There is a possibility that Abram has kidney or bladder stones or sediment. Not much otherwise. We are looking forward to our first real trip back to Fort Dodge for Thanksgiving, keep your fingers crossed everyone back in Iowa is healthy for our return!

Still here...

It's been quite some time since I've had the chance to blog, my apologies! We have finally confirmed Abram's condition, and yes indeed he does have Barth's Syndrome. I will try to post some information from it, if you want to learn on your own there is a foundation website - http://www.barthsyndrome.org/english/view.asp?x=1. Basically, Barth Syndrome consists of dilated cardiomyopathy (dilated and weak heart), neutropenia (lack of blood cells that fight bacteria), delayed growth and development, muscle weakness, exercise intolerance...other symptoms can include feeding issues (we certainly have those :)), diarrhea, fatigue. There are degrees to which all of this effects each boy, so we have yet to see to what "degree" Abe will suffer with the symptoms. Some boys can't go to school full time due to fatigue, most are able to walk on their own but have some gait issues, and typically the neutropenia (or infections) lessen as the boys get older. Hard news, but good to know what we are dealing with. Abram is doing rather well. No fevers, hospitalizations lately. A cold here or there. Occupational therapy has started and he is already making progress. He is sitting in the highchair once a day and tasting baby food. He much prefers salted baby food...has a thing for salt, not liking much of anything else (I have read that this is a preference amongst babes with Barth's). He began to suck on the bottle yesterday and drank 5-10 ml which is good since he hasn't performed with the bottle for 3 months. Almost rolling over - something he mastered long ago before he became so ill. We are waiting for a tooth, but he has grown more hair, dark hair! Abram remains a happy guy, smiles and laughs a lot. Pretty laid back and not real picky, loves to be held and talked/sang to. He keeps us busy with feeds still every three hours but is on a lesser calorie formula which he tolerates much better. Not vomiting but maybe once a day or less and usually due to mucous more than the formula. We are having a meeting with a surgeon to discuss a Mic-key button for his stomach so we would feed him through his stomach and get the tube out of his nose and off his face. I think he would appreciate this, I know I would - no more 3 am tube placements. As you may read Barth Syndrome is very rare and there is not a whole lot known about it. There is no cure or treatment, the treatment is treating the symptoms/conditions the Barth Syndrome causes. We are getting in touch with some other families that are affected by this disease, none of which live close to us but it's nice to know other's who are dealing with the same disease.

It's been some time since the last post so I thought I would type some quick updates. Nothing too exciting has occurred. We are waiting on the genetic test for Barth's and expect that to be here sometime in November. We visited with a new geneticist who suspects Abram does have Barth's Syndrome, is running some blood and urine tests to confirm a "clinical diagnosis" while we wait for the "genetic diagnosis". I am learning genetics are very complicated, so if Abram has a mutation on the "Barth's Gene" it may or may not be called Barth's. . . Abram continues to gain good weight and is above average in his age group for weight, but still at 3% for heighth...this would explain the Barth's Syndrome size status (typically shorter and smaller). Abram had another echo and his heart shows no more improvement, but no worsening. We continue to meet with GI and discussed possibility of a g-tube in the future (tube that goes directly in the stomach rather than down the nose). We are a little tied on this, there are pros and cons to everything. We are waiting on hematology to come up with a plan to treat Abe's neutropenia so we can start living again and be around others. Starting with occupational therapy to help with getting back to oral feedings, and have a swallow study planned sometime in the future before we can even consider oral feeds. The GI doc wants to make sure he is not aspirating because he chokes while he drinks. We are reading about Barth's and feel this is a probable diagnosis. So much to know as it's a very rare and complicated illness, which may mean future trips to a different state to see a doctor who has treated boys with Barth's since no one in the KC area has. Abram continues to be a content and happy guy. Very tired, napping frequently but keeps us busy as his feeds continue when he's sleeping or not! Tried a new med for vomiting but it made him vomit more, so we are reducing the calorie of his formula to see if that helps. He's currently on an increased calorie anyways for weight gain, and it's obvious he is not needing that!

A busy week it has been, one last appointment tomorrow (opthalmology).

Genetics is running the TAZ gene test to rule in or rule out Barth's Syndrome, but refuses to do any other testing stating Abe "looks really good" and thought that he would be a "whole lot sicker" if he had Barth's, any storage diseases, metabolic disease, or chronic neutropenias. Geneticist thinks the entire cause is the enterovirus - however, we recently found out the type of enterovirus and this would contradict the "virus being the cause" theory.

Hematology shared several theories with us about ABe's low/non-existant neutraphil count. The firsttheory and test is a Complete Blood Count to see if the neutrophils have increased (found out today that they have not). Second test is to see if the enterovirus Abe had is spawning over and over again in Abe's blood (which could be happening even if he tests negative for enterovirus in his nose and bottom), and the doctor said if this is true it could be keeping his neutraphils (bacteria fighting white blood cells) low or non-existant. The other theory is that Abe's blood has created an antibody that fights against the neutrophil production. If this is the case he will be diagnosed with what is called "Benign neutropenia of Childhood" which resolves usually by 4 years. There is treatment for this, an injectible that can cause extreme bone pain but may only need to given when Abe is sick with a fever vs. like a maintenance medication. One of these tests or the other takes 2-3 weeks, the other 2-3 days...I can't remember which one is which length of time. Of course the hemotologist will look for Leukemia which is a possibility, but it's unlikely with current blood test results. Due to having neutropenia, it's likely Abe will need to have his bone marrow aspirated once a year to check for any changes in this blood that would signal a leukemia because the neutropenia puts him at a higher risk of getting Leukemia. We did get Abe's neutrophil count test from yesterday and it again came back at 0 again so it's likely we will be doing a bone marrow aspiration sometime in the future to check for abnormalties.

More news...Abe's virus was finally typed to be the Coxsackie A24. . .this strain does not attack or damage the heart. Therefore, we are likely looking for another cause and condition that is causing the heart disease and neutrophil problem - which is a good reason to have the Barth gene ran since these are classic symptoms of Barth's. A couple of our docs are adamant that this is what Abe has, another couple are sure that he does not have this. So, as you can guess we are anxiously waiting for the test results that take 6-8 weeks.


Went to GI today and Abe's on a new med to help with motility that will hopefully help Abram to eat at a faster rate rather than taking an hour and a half. OT at Children's Hospital will be meeting with him to evaluate him for a swallow study (he chokes a lot). He is starting OT through Infant and Toddler services, we are in the "family plan" stage so it will be a few days before the actual OT starts.
Will report on opthalmology if anything significant comes out of this appt. Abe is now in the 10-25% for boys his age/weight/height according to GI, this is progress. Kicking a lot, still smiling, and active when awake.

Look Ma, I do have clothes!

It's been a week since a new post, I have to apologize. Not much has happened as we haven't had any doctor appointments, and timing just isn't of the essence for me to blog! We continue to hold Abram A LOT and he is gaining weight, 14 pounds 11 ounces today. Still vomits which is distressing for us and him, but not affecting his weight thankfully. The more we hold the less he vomits it seems. Hopefully with his growth and bottle feeding starting we will see less of it. Next week will be a busy week, so I don't anticipating blogging much or at all, just an fyi. We see the geneticist and hematologist next week, and Abe start occupational therapy for help with feedings. Doesn't sound like much, but anything in addition to our regular routine takes away from precious nap time which effects us all :). Abe has caught on to Peek-A-Boo and beginning to understand how fun raspberries on the belly can be. He is very content most often, smiley, and chipper...

Today the home health nurse was here and Abram weighed over 14#. He's more strong, able to pull his head up when you pull on his arms. He gave me his first full blown belly laugh today, as I was wiping him up after changing his diaper. Of all times!Blood count for neutrophils remains at 0 so Abram will be having a bone marrow aspiration done Sept. 26. We will be starting occupational therapy soon for feeding help as Abram can have the bottle twice a day x 10 minutes. We are also starting with a new GI doctor in October.

GOOD NEWS

Finally, some definite good news. Abe's appt. at the cardiologist today went well. His echocardiogram showed about a 25% immprovement in his numbers of ejection fraction and left ventrical size. This means his left ventrical has shrunk a little as it was so enlarged, his heart is beating stronger and is less weak (went from 27% to 47%), and she is optomistic about a full recovery of his heart! We were elated to get this news. We aren't out of the woods yet, about half way there. We pray that the medications continue to correct his heart...
Had blood drawn today for neutrophil count and some immune tests that willl take a couple weeks to get back, and urine sample to measure calcium. Will report back on results.
Thank you for all your thoughts and prayers out there, they are working!

Excited for Monday

Tomorrow we head to the cardiologist to see how Abe's heart is holding up. He has been more sleepy, sleeping more often through the day but more active when he is awake. He kicks like crazy, grabs and holds toys, jibber jabbers, smiles, and has started a mild belly laugh. He rolled over from his side to his belly twice yesterday, progress! We also have a new appointment with the geneticist Sept. 25. Will have to do more research to get prepared so we can ask for the tests we want, as the geneticist refused us an appointment twice even after formal referrals from the cardiologist and pediatrician. I believe the goal will be to test for metabolic disorders i.e. Barth's, 3-Methylgloc., congenital neutropenia, Kostmann's, etc. And then we see the hematologist October 2 which will be interesting too. In the past, in the hospital, the hematologist talked about studying Abram's bone marrow for answers so we are excited to get to the bottom of all of what's going on!

Infectious Disease Update/Visit from Nanni and Papa

Today we saw Dr. Newland, Infectious Disease doc who has been caring for Abram through his MRSA (staff) and virus issues. Dr. Newland reiterated that August stool and nasal tests confirm that he no longer is carrying the enterovirus or MRSA. However, in order to be considered "de-colonized" of MRSA and enterovirus, these tests must be run three more times and return with negative results. Our #1 test was today, two more to go. Dr. Newland also discussed with us the neutropenia and his thoughts were to get genetics involved, and that it is now unlikely that the enterovirus is causing the neutropenia since the virus is likely out of Abram's system. He is going to talk with genetics and a genetic resident he knows about possible metabolic tests since it is likely something other than the virus driving Abe's blood count low. He wasn't sure if this is something that can be tested since Abram received a blood transfusion and immunoglobin in the hospital in July. We no longer have to follow up with him or infectious disease unless something returns. Next Monday we see the cardiologist and have another CBC. Can't wait to see what his blood will do this time around barring he no longer has viruses or infections (that we know of anyway.) Keep your fingers crossed that his neutrophils are up and Leukocytes are down!

The Chubster

The nurse was by today and Abe has gained 40 grams/day for the last 10 days. His goal was to gain 30 grams/day. He is now weighing in at 13.2 pounds and looking fatter than ever. WE are eagerly waiting for some muscle mass that has to be making it's way soon, especially the way that Abe kicks!

Wednesday already?

It's been a few days since I've posted, time really does fly. Abram's diarrhea is letting up, stool sample came back negative for c-diff infection, thank goodness. He isn't vomiting as much, maybe 1-2 times a day as it used to be 2 times a day plus that. He is sticking his fingers in his mouth more and more, and makes himself choke which leads to the coughing/gagging then vomiting so we are trying to watch him during and after feeds. I hope the pacifier doesn't become permanently attached to his face! We didn't go to the cardiologist as planned on Monday, spoke to her on the phone and we agreed it would be more risky to go to the clinic due to Abe's low blood count. She assured me that it's unlikely any change was made in Abram's heart since it's only been two weeks from the last appointment, and his breathing/color hasn't seemed to change. Our next appointment is Sept. 5 with infectious disease doc. Otherwise, not much going on medically.

Alec's celebration of his life is this coming Sunday. I'm posting his electronic obit on the site if you are interested in reading. He was such a special guy, and all our hearts ache with missing him. As a new mother, I can't imagine what it must be like for Alec's parents. Especially his mother who was so dedicated to him and his well being.

Alec, I miss you so!

Abram was seen at the GI and the doctor was not concerned with Abram's reflux. Because Abe's weight and height remain in good ration with each other (at 50% marker). His height/weight compared to 100 other boys his age is at the 5% mark, anything less would be cause for concern. Even though Abe vomits a lot it's not effecting his weight significantly. The doctor was more concerned about Abram's diarrhea being in excess from the antibiotics he was on, ordered labs for CBC and electrolytes. Needless to say we will not be returning to see GI unless Abe's feed tube becomes problematic or he begins to lose weight. . .this is a good thing.
GI doctor called 10:30pm last night to report on the blood work. Abe's neutrophils (bacteria fighters) were back to being very low again (152) and concerned about the diarrhea and antibiotics causing another infection. He contacted Infectious Disease and their suggestion was that we go to the hospital for admit to monitor for infection and have stools tested. Reluctantly we agreed. What could the nurses be doing at the hospital that we weren't doing at home or a quick trip to the lab???? The hospital is a scary place when neutrophils are so low.
We were hospitalized for a total of 16 hours, and not much happened. Results from stool, blood and urine all negative for staff. Enterovirus continues to be in Abe's stool which is puzzling that it has hung around this long. We have plans to follow up with hematologist to further look at causes of low neutrophils and with Infectious Disease to monitor the staff and viral issues.
Ironically, as mentioned earlier in my blog about my little guy - Alec, was still in the hospital and moved to intensive care yesterday prior to our hospitalization. We arrived on the same floor only to move into his room that he had left. . .his name was still on the door!
We are home now, but with great sadness have to say it's been a very sad day as we lost Alec to heaven today. He did not make it through anesthesia when in for a biopsy. Thankfully, I was in the hospital with Abram and could be there with Alec and his family. I believe God was working at this time as there was no way that I could have been with them if we weren't in the hospital where someone could look after Abram and I could be in the same place at the same time in the event I needed to get to Abram quickly.

Abram is doing pretty good for the moment. He continues on antibiotics and I cannot wait until this Friday when we can hopefully stop them! This is the house of puke and diarrhea! Abe has lost a little weight because of the effect of the antibiotics, but know he will gain it back once they stop. We continue to count diapers daily, and hit an all time high yesterday at 22! Bryan and I are treating our "nares" (nostrils - we are getting good with the terminology) to "de-colonize" any MRSA (staff) that we may have, and rid it for good. I guess that is where MRSA likes to hang out in healthy adults. The nurse was here yesterday and she thought Abe was doing well, heart steady at 126 and color good.
Abram is beginning to laugh, he doesn't have it all down yet but making a happy grunt that continues for just a little longer than a normal grunt. He and I go back and forth taking turns laughing at each other, it's hilarious!
Found out my other little guy is in the hospital - Alec, the little boy with Down's that I care for. It's likely we swapped rooms at Children's Mercy as they are on the same floor! Sounds like he has a bad virus of vomiting and crying constantly. He too has heart complications/conditions so they needed to take him in just in case. Please say a prayer for him and his family!

Home Sweet Home

We are home again! Abe looks good, is on a couple new antibiotics for a week and then hopefully we will have the MRSA (staff) licked, and have one less thing to worry about. So far nothing has grown from his blood culture, no infection or MRSA in urine or blood but this can grow out for a few days until the test is officially done. We see the cardiologist in one week and have more blood work, GI specialist this week, and Infectious Disease in 2 weeks. We are no longer involved with hematology as long as Abe's blood stays good and we hope the same with infectious disease after our follow-up appointment. Then we can put all of our focus on the heart and genetics, making life a little more simple.

Finally, some good news! (a mixed bag that turns out sweet)

Abram had his 4 month well visit with his pediatrician on Friday, and received his immunizations. It was incredibly nerve racking to be in a doctor office where sick kids are and Abram being so susceptible, or so we thought at the time. We came home after our appointment and all was well until 1:30 am Abe woke up crying and sweaty, had a temperature of 103, but cooled down to a 100 temp a couple times after. We went to Urgent Care "just in case" as we didn't want to take any chances of his staff infection becoming worse or occurring other places other than his bottom, knowing that it was likely his immunizations that was causing the temp. Long story short, we are now admitted at Children's Mercy (KC) and likely will be until tomorrow.
Blood has been drawn and cultured, no growth yet which is a good thing. As a precaution Abe received a couple rounds of IV antibiotics and IM antibiotic while the blood is being cultured. They culture his blood for 5 days, but we do get to go home sooner than this. We were able to meet with infection disease specialist who took some more tests for MRSA (staff) in his nose and bottom, in addition to retesting for the enterovirus that initially attacked his body to see if this has left him yet.
We have also received wonderful news, which was he does not seem to have an infection in his blood or urine, and his neutrophils (what fight infection and were dangerously low, resulting in isolation) are up to normal! We are elated to say the least. Tests are still out on the above mentioned virus and MRSA, but should be back in a couple days. So, not such a bad visit as we received good news, were able to follow up with hematology and infection disease specialists, and receive some good and strong antibiotics.
Hematology continues to believe that the virus is the cause of the cardiomyopathy. Still waiting on urine acid tests, which have us nervous. . .

Re: Large diapers

Yes, as you can see in the previous pictures, Abram wears larger diapers than his actual size to catch all his extra pee! The medicine that he takes makes me shed a lot of urine and he goes through 17-20 diapers a day! That's the larger diapers with the extra absorbancy! Diapers, a binky, and socks are his wardrobe. It's just easier that way with all the changes, barf, and because he tends to sweat a little due to his heart disease.

A Surprise Visit From My Uncle Kyle

A new toy - a mylar fish - to play with. Thanks Uncle Kyle!

Today we collect urine. It was decided that we would capture Abe's urine at home rather than take him in to the lab to keep him from being exposed to anyone there. . . So it's my mother-in-law and me on a mission to catch Abe's urine in a baggie that literally sticks on him. I don't think it will be difficult, saw it done in the hospital. Much better than having him cathed to obtain urine and exposed to strangers with who knows what. The geneticist tech stated the acid 3-Methylglutaconic was not found elevated in Abe's urine and therefore they (the geneticist) are ruling out Barth's Syndrome. Even though this was not found in the urine, Abe could still have this acid elsewhere but the genticist refuses to do any further testing stating she needs it in his urine in order to go further with tests for Barth's. This is too bad because all the reading I do on Barth's and other disorders caused by abnormal amino acid levels do not consistently show themselves in urine, are more prominent in blood, and ultimately a chromosome test is the best proof. We have yet to see what comes with this, our pediatrician may go about this another way. Start with the urine and advocate for more if needed along the way. . .I'll let you know how the urine capture goes! Results take 2-3 weeks to get back.

Abram's pediatrician called today, learned that he had an acid in his urine that is "abnormal". So we go tomorrow to give some urine for another test. Abe's pediatrician has been consulting with a geneticist who does not want to order chromosome tests yet that would check for genetic disorders.
Abe had a pretty good day, tired a lot but very alert when awake. One small episode of barfing due to a sore bottom from the wipes (chemical makes him red) and ended up vomiting a small amount, otherwise today was a no barf day!!! We are switching back to water on the bum, which we should have stayed with anyways.

Immunology Results - sort-of

Received a call today with partial good news! Immunology believes that "overall tests are re-assurring" and Abram does not have an immune deficiency disorder that started at birth. It's all very confusing with what tests they have done, a total of 4 to tests Mitogens, Antigens, Natural Killer cells, and IGG. The tests show that Abram's mitogen function is good, these help to fight viral infections. The antigens did not replicate or respond in the study, but neither did the control sample so they are summing this up to be a "bad study" and basically throw out the results. The IGG was extremely elevated (tests check to see how well Abe's cells respond to tetanus, canida, etc., etc.) but expect this to be due to the immunoglobin he was given in the hospital (someone else's IGG could be spiking the numbers). And finally, the Natural Killer cell test was inconclusive because the person who could run this study was on vacation!!! (all tests were sent across the country, outside of Children's Mercy, this particular one to Nashville.)
So, needless to say Abram will need to give more blood in a couple weeks to re-do two of these tests. The IGG cannot be tested for about a year due to the donor immunoglobin in his system. What do these tests (inconclusive) mean for us? No rotavirus immunizations, no contact with people who have colds/flus/viruses/illnesses, etc., and wearing a mask at the doctor office. The doctor did not think that Abe's MRSA on his bottom was due to low neutrophils/immunity problems, but secondary (likely from the hospital) and still believes the enterovirus that was diagnosed, and the working theory of Abram's heart problem, could be driving his neutrohils to be low.

Culture results

Received a call today about Abe's culture from his bottom where the two pimples were, and turns out they are a staff infection of the MRSA type. This is a "highly resistant" and "highly contagious" staff infection and can be very serious if in the blood or urine. However, as far as I know it is only on his bottom. He has been on Bactrim for 4 days now and they are much improved. I put a link for MRSA on the blog to the left if you'd like to read more.
Abe's pediatrician is doing some consulting with the geneticist at Children's Mercy to see what genetic tests were done as we had some question whether or not Barth's Syndrome was truly ruled out. It's likely we will request a genetic test to rule this out or in, if I remember correctly the doctors only looked at his blood and urine to rule this out and that is not always matter of fact when ruling out Barth's.
Our next appointment is Friday with our pediatrician to discuss furhter testing and follow up on the staff infection.