(UPDATE AS OF JULY 2013)
If you scroll below this update, there is a long one that I posted in July 2010. If you are brand-new to his story, you may want to scroll down and read that one first as it starts, as they say, at the very beginning of his journey.
Noah's disease has progressed very considerably since I last updated his story. He has had many more broviac central lines placed and has gone from a single-lumen to a triple-lumen with 3 trifuses. To simplify that, he has a very large I.V. type of line going through his jugular to just short of his heart. It is actually three individual tubes wrapped to be like one tube inside him but branching out to three tubes where it leaves his chest. Each of these three tubs has 3-way tubing attached to it, leaving Noah with a total of 9 IV lines branching out from his chest.
He lost all use of his gut about 2 years ago. He has a very large tube leading from his stomach to a drain bag and it drains around the clock. He cannot get any feeding or medicine through his digestive tract any more. He can drink and have "solid liquids" like popsicles, but these drain immediately out into his bag. No matter how much he drinks, he can never quench his thirst or hunger because everything drains out.
All of Noah's nutrition and all of his medications are now in I.V. form. He has at least 4 I.V. pumps running around the clock and has others that infuse on and off through the day and night. One of these pumps is a continuous dilaudid drip that is given to help control the pain caused by his disease.
Noah now has a neurogenic bladder and had surgery a year and a half ago to place a supra-pubic catheter. This is a large line going into his bladder through an incision below his belly button. This also drains continuously into a drain bag. He has to go to the hospital every 4 weeks to have this tube changed in the O.R. under general anesthesia.
Noah now has strabismus (eyes don't always look in the same direction), stereoblindness (no 3D vision or depth perception at all), and astigmatism (for which he now wears glasses).
Noah requires frequent blood transfusions and we monitor his labs every week.
Noah has chronic lung disease as the result of his mitochondrial disease affecting his lungs. He has breathing treatments twice daily.
This disease has also affected his endocrine system and Noah has gained a great deal of weight because of issues with hormones. I can no longer pick him up and hold him.
Noah can no longer walk and his ankles, knees, and hips are no longer positioned correctly - they do not straighten or are bending or twisting in the wrong ways. He cannot bear any weight on his feet. He is in a hospital bed much of the time and has a power wheelchair that he uses when he is out of bed.
We are currently investigating increased neurological aspects of his disease. On a good day, Noah is only awake about 7 or 8 hours out of 24. On a not-so-good day, he may only be awake for 3-5 hours, and when he is sick he will essentially sleep for days. He has increasing memory issues and intermittent confusion. His speech is becoming more slurred as the muscles in his face become affected by his disease.
Noah frequently deals with serious bladder infections. An infection that would be an inconvenience to you or I can be life threatening for him. He is allergic to many antibiotics and the bacteria in his bladder are rapidly becoming resistant to every antibiotic we can use. We rinse his bladder with an antibiotic solution for 30 minutes a day but this no longer holds the infections at bay.
We decided to start private duty nursing about a year ago. We now have nurses in our home for 8 hours most days. This has been a tremendous help as Noah is incredibly complicated and his care takes many hours a day. He is right in the middle everything our family does and I still provide much of his care, but it has been a relief to have more time to "just be mommy."
Noah is very seldom hospitalized any more. After coming close to losing him to an extremely serious infection and after seeing how much his baseline changed for the worse, we met with our pediatrician and jointly decided to treat all illnesses and infections at home from now on. We respond very quickly with labs at the first sign of illness and thanks to our wonderful infusion company, we can have big gun I.V. antibiotics and other drugs running within a couple of hours of Noah spiking a fever. With every illness we give Noah as much support as can be given to enable his little body to keep fighting. At this point, he's really only hospitalized for surgeries and sometimes for transfusions if they can't be given at the hematology/oncology clinic for any reason. Because of this huge shift in his care plan, Noah gets to live at home instead of essentially living at the hospital as he did for the first five years of his life. When he is sick, he is in his own bed with his family always beside him, and that is where he will be when he is finished fighting and ready to go to heaven.
(Update as of July 2010)
Noah was born at 37 weeks on August 10, 2006 via an emergency c-section due to a prolapsed cord. From the beginning Noah was much floppier than my other babies and had a very hard time with nursing. He was an extremely sleepy baby and even as he left the newborn stage he would have a difficult time staying awake to nurse.
When Noah was 6 months old he had his first little meal of baby food. A couple of hours later he began vomiting so much he had to be hospitalized. No reason for the vomiting was found. A couple of weeks later he was hospitalized again with a UTI and vomiting. He was admitted a third time for GI problems just a couple of more weeks later. Each time he was admitted his labs would be crazy, they would stabilize him and send him home, and within 2 weeks his labs would look bad again. At this point we were growing concerned that this was more than a run of "bad luck" and more testing was done. An echo showed a small hole in his heart and he was referred to a pediatric cardiologist.
While cardiologist didn't feel that the small hole was a problem, he was concerned about Noah's big picture - a weak, pale, thin baby who would sweat buckets every time he nursed. He sent Noah right to MUSC in Charleston to see a geneticist and have a heart cath. He felt that Noah's problems could be due to a serious heart defect or a genetic condition. While at MUSC the pediatric geneticist told us that we needed to pray that Noah did have a serious heart condition - even though it would have required emergency open heart surgery, it would at least be fixable. He said that anything else would be untreatable. Testing on Noah's heart showed no serious problems, and I think we were the only parents there crying because our son did NOT have a heart problem.
Just a couple of weeks later Noah had weakened to the point that he could not nurse enough to stay hydrated. He had an extreme oral aversion (developed from being force-fed when in the hospital with vomiting) and there was no way to persuade him to take in any fluids other than from nursing. He became dehydrated and was admitted to a larger regional children's hospital in Greenville, SC. He was in for 3 weeks and saw all sorts of specialists, each of whom saw all sorts of small or large problems. He was 9 months old at this time and could not even hold his head up well. He had surgery for a g-tube. This is a small tube going into the stomach right through the abdominal wall. Noah has a little "button" on his tummy and he can be fed through this button directly into his stomach. The plan was that Noah would get large bolus feedings into his g-tube several times a day. This would be similar to getting a bottle feeding except that he would not have to swallow the formula. He was still able to nurse in addition to the tube feedings.
The bolus feeds were an absolute failure. Noah would vomit violently with even a small, slow bolus. He was finally discharged with a feeding pump that dripped formula into his stomach 24 hours a day. Noah seemed to do better initially and put on some weight, but we hit a roadblock within a couple of weeks and he stopped gaining. If we increased the rate of the formula, he would vomit. If we increased the calories he would develop high lactic acid and get very sick.
In August 2007, right after his first birthday, Noah was admitted for what was to be a one night stay at the hospital. The plan was for him to have surgery to change the g-tube into a g-j-tube. This tube would have branched into 2 tubes once it entered Noah's stomach. One shorter tube would stay in his stomach and one much longer tube would be snaked down into his small intestine. The hope was that if we fed him right into his intestines, bypassing his stomach, we could increase the rate without vomiting.
The surgery was not successful. During the surgery it became clear that Noah's stomach anatomy was abnormal. After more than 2 hours the tube was finally placed but right after surgery it wiggled back up into his stomach. This is VERY abnormal as the motion of the intestines should have pulled it downward and never allowed it work its way back up. The next day Noah went in for exploratory surgery to determine the extent of his abnormal anatomy. The surgeon ended up opening Noah's belly completely and found that pretty much everything in his gut was in the wrong place. He had a very unusual (atypical) malrotation and all sorts of partial obstructions. The surgeon was able to improve Noah's anatomy but was not able to give him a normal anatomy.
Honestly, we were initially somewhat happy when the surgeon came out and began drawing pictures of what he had done. We figured that since the plumbing had been fixed, Noah's feeding problems would be a thing of the past. The surgeon was not so optimistic. It turns out that he had actually published a study about children with very abnormal gut anatomies and he said that in many cases the surgery did not help at all. His belief was that these sorts of defects were usually found along with other serious conditions or syndromes. Unfortunately the surgeon was right. Noah became weaker and weaker after the surgery and soon went back to the ER to get a central line so he could start TPN. Noah's central lines have all been Broviacs. These are like extremely large IV's that are surgically placed in the chest and, in Noah's case, threaded into his Superior Vena Cava almost into his heart. This line allowed Noah to get TPN which is IV nutrition. All of Noah's daily calories, carbs, fats, protein, vitamins, fluids, etc. are pumped into his central line each day. The upside of TPN is that it allowed Noah to receive full, balanced nutrition without using his gut at all. The big downsides are that in time TPN will destroy Noah's liver and that having a central line puts the Noah at risk for serious blood infections (sepsis). In fact, Noah got his first major line infection only days after getting his broviac. The line had to be removed and he had surgery to place a second line.
The TPN was only meant as a very short term solution until Noah's gut woke up from the surgery and we could try tube feeds again. When we started feeds, we found that Noah was able to handle less than half the volume he could handle before the surgery. In an effort to get a diagnosis for Noah and find a way to get him off TPN, Noah was medflighted from Greenville to CHOP in Philadelphia. Specialists there tried repeatedly to get a g-j-tube in Noah but were unable to do so. He had surgery for a muscle biopsy to test for a mitochondrial disorder and after about a week he was medflighted back to Greenville. He had developed a second line infection in Philly and needed surgery for a third central line upon his return to Greenville.
After more than 6 weeks in the hospital, Noah was discharged on TPN and a 24 hour g-tube pump. We hoped to very slowly increase the amount of g-tube feeds and wean him off TPN, but he quickly became unable to tolerate even a teaspoon of formula per hour. Noah continued to gain weight with TPN and with therapy he began to meet his motor milestones, but he could not stay out of the hospital for long. He had repeated episodes of sepsis including one infection that went to his femur and required surgery. He developed dilated cardiomyopathy and was put on heart medicine. Sometimes he would be home from the hospital for less than 24 hours before we would have to return. In fact, his little sister Mary Faith was almost born in Greenville - Noah was discharged on a Saturday evening and she was born the next Tuesday.
Despite repeated requests for Noah's records, we were never able to get the results of Noah's muscle biopsy from CHOP, so in June 2008 we went to Atlanta to meet with a mitochondrial specialist and get another muscle biopsy. The biopsy was delayed because Noah once again became very sick the night before the surgery and was admitted to Scottish Rite for more than a week. He eventually had the surgery and in September 2008 we received an official diagnosis of complex 1 mitochondrial encephalomyopathy.
Since then Noah has had many serious infections and has had a total of 8 broviacs placed. We have never been able to get him off TPN and attempts to push g-tube feeds have not been successful. At this point the mito is affecting his gut, bone marrow, heart, immune system, and autonomic nervous system. While Noah is often unstable from an infection perspective, his disease progression has been very slow and he has been pretty stable from a mito perspective until recently. It appears that the progression of Noah's disease has increased over the past few months and we are seeing more symptoms, more pain, and more fatigue. We don't know exactly what the future holds for Noah, but we do know the One Who does know. We know the Lord loves Noah more than we could ever imagine and we trust Noah's future to His loving care.
