Believing for Beckem

n count how many ultrasounds I had during this pregnancy and many of those were the level 2 ultrasounds with the perinatologist. Beckem was Baby A and was by far the most active in the womb. (update on this at the end) He was head down the entire time and his feet were in constant motion. When I would have the non-stress tests toward the end, the nurses would laugh because they called Baby A the show off...his heart rate was perfect and he always had more kicks than Baby B. I actually worried about baby b...I kept telling the doctors that I never feel him move...but we could see movement on ultrasound so it must have been his position. We had no reasons to be concerned about their health and our doctors were pleased if I could carry them to at least 36 weeks. The babies were delivered by c-section and Beckem had the chord wrapped around his neck a couple of times. What seemed like an eternity passed before I heard him cry. His heart rate dropped to below 90, he had low tone, and cyanosis, but finally he had a good strong cry. They had him wrapped up in a blanket and all I could see was his face...they showed him to me for maybe 5 seconds before they whisked him away. I remember thinking how TINY his face was...his eyes were wide open and his mouth was so little....he didn't even look real! Adler came out crying a bit weakly...he gulped some fluid so he had to be whisked away as well. I didn't even get to see him. Both of the babies were in the warmers getting some oxygen and iv fluids. We couldn't hold them, but I finally was allowed to go in to see them. Adler weighted 5 pounds 11 ounces and other than being small, looked like a regular baby. Beckem weighed 4 pounds 15 ounces and when I saw him, I immediately thought, "Oh my Lord, what is wrong with him???" Don't get me wrong, I was hopelessly in love...but I knew something wasn't right. He was tiny, his head was enormous, and he was so pale and just odd looking. A couple of days went by and our pediatrician came in to tell us that something might be wrong with Beckem. She said she could hear a problem with his heart and she was concerned with the size of his head. The helicopter was on the way to take him to Medical City Dallas where they would be equipped to handle his problems. I can't even put into words the emotions that followed. When he arrived at Medical City, they wasted no time and quickly knew he had two large holes in his heart, a VSD and ASD (and his most recent echo revealed PDA). Lots of babies are born with these, commonly known as a heart murmur and most are small, cause very little issues, and close on their own as the baby grows. Beckem's were so large that we were told he would probably eventually need surgery to close them. Beckem began having congestive heart failure at 2 weeks of age so they started giving him medication....Digoxin to help his heart pump stronger and Laxix to remove excess fluid that was going into his lungs. He couldn't seem to wean off of oxygen and had feeding issues so he was tube fed through his nose. We also learned that he had a bi-lateral brain bleed, Grade 2. We were assured that a grade 2 almost never has lasting effects and it resolves on its own, which it did. The odd thing was that he had a brain bleed when he was born at 36 weeks...the doctors kept saying, "he's just not that preemie." Then, the neonatologist told us that the genetic doctors came in to examine him because there were concerns....he had a lot of anomalies...we were told that people may have one or two of these things and it's nothing, but when there are lots...it usually adds up to something. They said that they knew he didn't have downs syndrome, but they couldn't put their finger on what it was. He had mild dysmorphic facial features, low tone (hypotonia), huge head in relation to his tiny body (relative macrocephaly), small jaw (micrognathia), small down turned mouth, posteriorly rotated ears...especially the left ear, ear pits, long fingers, heart defect, small, widely spaced nipples, (and now they are inverted) hypospadias, prominent arched eyebrows, broad nasal tip, and mild bitemporal hollowing. They wanted to do chromosome testing to determine if there was a chromosomal defect. We waited for about two weeks for results, and the micro array chromosome test came back normal...we were elated!!!! The doctor who delivered the news was elated as well and she told us she was really surprised that there wasn't a chromosomal abnormality with as many issues as he has. We were thrilled and just counting down the days until we could bring him home from the NICU so he could finally be with his twin brother and his big brother, Gavin. I immediately began researching so I would know everything possible there is to know about his medications and his heart condition. Most of his time in the NICU was them trying to get his oxygen levels to a satisfactory level and feeding. The doctors wanted to surgically put in a feeding tube but we worked with the occupational therapist and he began to eat. I was pumping every 2 hours during the day and 3 hours at night for him and Adler. We had to fortify with Neosure for Beckem to give him higher calories. He had to use a preemie nipple, thickeners, and we did chin support and cheek support. We finally were able to take him home! We could see a feeding therapist and cardiologist as outpatient and they were going to monitor his heart to see if maybe the holes might begin to close. If not, he would have open heart surgery. We continued praying for them to close!! I continued to pump until they were about 7 weeks old. At about 6-8 weeks of age, Beckem began to struggle a little more with feedings. Then he began to vomit...not spit up...projectile vomit. He had a barium swallow which revealed he had reflux which he began medication for. It didn't help and switching medicine didn't either. He also wasn't doing any of the things that I know babies begin to do and wasn't doing things Adler was doing. It took a long time for Beckem to smile...and he would go so long before he smiled again, that I would question whether or not I really saw a smile. He took an even longer time to coo and it was seldom. He was very 'floppy'...and his feedings were getting more difficult. Then his eyes began crossing and getting 'confused'. He began having some behaviors that were 'seizure like'. We have had at least one doctor visit in Dallas per week since he came home and usually more. I knew something wasn't right...I've never had a baby with a heart condition, and I continued to excuse things as 'the heart issue'.....but I knew there was something more going on. I think I asked his pediatrician weekly if we should change his formula...maybe Neosure didn't agree with him?? She said absolutely not...the Neosure isn't causing his problems...and dismissed almost all of my other concerns as well....she kept referring to the projectile vomiting as "spitting up" which was frustrating...I certainly know the difference. (we have changed pediatrictians) We were led to believe that the chromosome testing covered everything and all of my google research led me nowhere. At our cardiologist appointments in January, he was a bit baffled by Beckem's lack of progress. He connected us with a geneticist and we saw him the next day. He took almost two hours with Beckem and going over every single detail, family tree, etc. He explained to me that the chromosome test is very thorough for checking chromosomes, but it doesn't detect problems with the genes in between. He felt certain that Beckem has an underlying malformation syndrome but he couldn't make a specific diagnosis. His first thoughts were Prader-Willi syndrome or Zellweger. The geneticist said that Prader-Willi doesn't usually have heart defects but he wanted to put everything into a database and determine which one to test for. I left his office that day actually feeling better...finally...someone who understood and affirmed that there is something amiss. My heart was broken that Beckem may have a genetic defect that would cause him to struggle but I was ready to start calling the best therapists and specialists so I could do anything that would help Beckem. I remembered reading about Prader-Willi during my research, but I had never heard of Zellweger....Back to google...I was eager to know what to expect. Would he have a learning disability?...sensory issues? These are manageable. I came home and began digging... I reread about Prader-Willi...it comes with a lot of struggles...maybe Zellweger comes with less... so I moved on to learn about it. I couldn't believe what I was reading about Zellweger....anything but this!!!! I'll take any other syndrome but please not one that is going to take my baby boy's life so quickly!!! Not something that attacks every single organ...even his bones and deteriorates his brain!!! I saw picture after picture of little babies who look so similar to Beckem...many of the same facial characteristics. I hoped and prayed that he would not have to fight this battle. I waited anxiously for the geneticist to do his database thing and decide what to focus on. I was praying for anything other than Zellweger. He emailed his report the next day....he felt Beckem fit most closely with a peroxisomal disorder...neonatal adrenoleukodystrophy or Zellweger. There's no cure, no treatment, and it is fatal. The blood test is not a simple heel stick and send to the lab. We are hoping he can have his blood drawn for the test when he goes in for heart surgery. (UPDATE: Beckem's blood test for a Peroxisomal Disorder came back NORMAL.) We have a long list of specialists he is supposed to see.....these disorders affect every organ...it's progressive, and depending on the severity, it is fast. We have seen the neurologist for an MRI and EEG which both came back normal, and his eye exam was normal except for some nystagmus that he is going to follow up on in two months. (UPDATE: Eyes are doing well and next appointment in July) He's having a modified Barium swallow next due to his feeding issues and his heart failure is worsening....they want him as big as possible before surgery which will likely be the end of February. This will follow our quest for answers…we hope you’ll follow along and continue to pray for Beckem and for our family. Beckem isn’t old enough yet to pray (at least as far as we know), he doesn’t know how to have faith, he doesn’t know how to hope or believe…so we have to do all of these things for him…let’s keep on Believing for Beckem. UPDATE--3-14-13 Beckem had heart surgery on March 5 and all of the holes were repaired!!! He had a rare arrhythmia on the 4th day after surgery. It's called a junctional ectopic tachycardia...it can happen right after heart surgery...which it did happen to Beckem the night of surgery but it corrected...BUT it's rare that it would happen after that. Beckem had been transferred to a regular room when it happened. He had been eating great after surgery, but after only an hour in our regular hospital room, he was refusing his bottle...his eyes were crossing and rolling back, his body jerking...then he was just limp...asleep. His heart rate was over 200...his oxygen levels were dropping...they gave him oxygen and did an EKG which showed that his heart was out of rhythm and was dangerously high. He was taken back to the heart icu...they weren't sure what to do so consulted with a doctor that specialized in the heart rhythm (sorry can't remember the name). They decided to try a large dose of amioderone...his heart rate finally came down...still out of rhythm but he was tolerating it better...he began to wake up but was in so much pain....that was the longest, scariest night of my life. He still takes Digoxin everyday to hopefully keep his heart in sinus rhythm. We got to go home a couple of days later. Beckem was doing great! Eating so well, breathing like a regular baby, not fast! He did well for several days, then he began refusing his bottle....He refused two feedings in a row...then I couldn't wake him up to eat...it took 2 hours to get 60 mls in him. I called Dr. Kalil...and he met us at his office on that Saturday and arranged for Beckem to be admitted back to Medical City to see what was going on. We spent almost 2 weeks there. Beckem was so lethargic that he could barely be roused....he slept through heel sticks. He was getting iv fluids only...he wasn't even able to wake up long enough to eat. They began running every test imaginable. He slowly began to wake up and return to his normal self...so we gave him a bottle of his Neosure. He refused but I was able to get some in him...the symptoms returned...he was screaming in pain, jerking, eyes rolling,etc. They decided to change formula...alimentum...he refused the bottle of alimentum, but would take a bottle of pedialyte. They decided to put in a ng tube....the more alimentum he had the worse he got. He had all of the neuro symptoms, was vomiting, and was also in agonizing pain. They switched formula again...this time Elecare. He refused it from a bottle...they put it through the tube...same things happened again...it was the craziest thing I've ever seen and every doctor that saw him was completely baffled including our geneticist. Stopped the Elecare and he only had pedialyte for a couple of days so the doctors could try to figure out what to do...happy Beckem returned! I asked if we could try donated breast milk...my dear friend from high school, Kelli Doolen Farmer, had already emailed me and offered to bring her milk immediately for Beckem to try...and she lives hours away! I asked if we could try goat milk...ANYTHING! The GI doctor said "no, this formula is easier to tolerate than breast milk." They finally decided he would try Neocate formula....even though it's very similar to the Elecare....and this was our last option. I offered in a bottle first...he refused...and refused!!! They put it in the feeding tube...he couldn't tolerate it. They decided to try doing an extremely slow continuous feed...24 hours passed and he was tolerating!! Still having discomfort but we were managing. They wouldn't let us go home on continuous feed, so we began to transition him to bolus feeds In the meantime, his labs were coming back...everything was normal so far except one...the 'carbohydrate deficient transferrin" test. This indicates that Beckem may have a congenital disorder of glycosylation. The geneticist had more of Beckem's blood taken and sent to Baylor to analyze the genes involved so we will know for certain. We are still waiting on these results which will take 4-6 weeks. We were finally able to come home...with the ng tube and Neocate formula. After a short while, his discomfort got worse and his vomiting more frequent. He was SO mucusy, was retching, gagging, choking constantly. After he vomited 10 times in one day, I took the tube out and gave him pedialyte by bottle....and I prayed. The next morning, he was already much better. God led me to contact my friend who lives here in Sherman, Deidre Hornback. She had offered her breastmilk when Beckem was in the NICU and I wasn't producing quite enough for both babies. She had also offered again during this hospital stay...I asked her if the offer still stood...she had breast milk here within 30 minutes. I just wanted to offer him a small amount with a bottle...I didn't think he would take it since he had REFUSED anything but pedialyte for 3 weeks. I couldn't believe my eyes...he drank it so quickly...I gave him more...and more. It has been 6 days and he's still taking breast milk by bottle only...no ng tube at all!!!! NO PAIN!! He's happy!!!! We serve a mighty God don't we?!! So that's where we are now...waiting for a diagnosis...about to begin physical therapy...but most of all trying to enjoy every second of each day. We wouldn't be where we are without the support of family, friends, our community, facebook community...we give continuous thanks for all of the support and prayers. We love you all so much and thank you for loving our family.