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Stephen's Story


In Nov. 2001 we were delighted to welcome a fourth child into our family. After three girls we finally had a boy. Prior to birth unusual things noted were an abnormal quad screen, indicating our child may have Down’s syndrome. I also had very low amniotic fluid by the 12th week, and worked very hard to increase and maintain it. We chose to forgo amniocentesis because with only a 10% chance of problems, we felt we could deal with them at birth. Plus, it seemed a little risky due to the low amniotic fluid issues. Stephen’s birth was difficult. He had a hard time turning his head to line up correctly, and pulse went down with hard pushing. Excellent doctors helped us ease him into the world. He appeared to be a healthy, full term, 9 lb. 2 oz. boy.

Stephen had a good apgar score but was very sleepy. Unlike our daughters, he seemed too tired to nurse in the initial hours. But everything seemed all right. Exhausted after laboring all night, I turned him over to the nurses so I could rest a little before facing the challenges of parenting. During the next 24 hours Stephen was still unable to eat much (now I recognize the lethargy) and had a low blood sugar of 24. Everyone wondered if I had gestational diabetes (I didn’t), and passed this off to his being a large baby. Our excellent pediatrician ordered glucose/water. The lactation nurse wasn’t too happy about that, and met with me to set up pumping and a supplemental nursing system (SNS) that would not take so much effort on Stephen’s part.

In hindsight, both approaches were desperately needed and correct. I was to feed Stephen every 2 hours during the first 48 hours, pumping what little milk I had before milk coming in, supplementing with formula, nursing with the SNS, and snatching 20 min sleep when I could. Nurses checked his blood sugar every few hours to make sure he was responding. It seemed to work, although I remember a panic stricken morning a day after returning home, feeling that Stephen was lethargic and therefore must be hypoglycemic again. I rushed back to the mother/baby unit and begged them to check one more time. Blood sugar was fine; my fears were eased. I pumped and nursed using the SNS for about a month until Stephen had enough strength to nurse on his own. I continued the routine of feeding him about every 3 hours.

At 2 weeks checkup the nurse commented that Stephen’s tone seemed a little low in the neck area. He appeared to have torticollis. We attributed this to the difficult birth and kept watching. Stephen was a high maintenance baby. He wanted to eat frequently and to be held and comforted most of the time. His weight and height were fabulous, in the 95th percentile. By about three months I was supplementing with rice cereal to help meet his growing appetite. He ate tons of rice cereal! He had more bowel movements than any child I’ve known, usually 5-7 daily, but did not appear to have diarrhea.

He had a lot of projectile spitting but did not appear to be vomiting. He tired easily, and was a little delayed in gross motor skills. We explained away unusual things as those that would go away with time, and tried to not worry. After all, he was our fourth child; we were experienced parents of three girls who understood that we didn’t have to stress about every little thing. We just tucked Stephen under our arm and hit the ground running every morning.

By about month five, concern was growing. Our pediatrician agreed to have him evaluated at the local Children’s Therapy Center. They identified gross motor skill delays of unknown origin and did a few sessions of therapy. By 8 months he would quickly spit up all foods offered except baby rice cereal,sweet potatoes, and yams (all starchy complex carbs, interestingly enough.) I was just starting to supplement the cereal with Similac rather than breast milk. He was unable to suck from a bottle or any sippy cup that required any amount of oral-motor strength & coordination. He hated lying on his tummy, never rolled over, and although he could sit at approximately the right age, could not get himself into a sitting position and required some support to stay there. Holding him was like holding a bag of potatoes. He never used his legs to help support himself. We hoped Stephen was just following his own timetable. We planned to start therapy in earnest when we returned from a family reunion/vacation.

We traveled 900 miles by car to a lake in the high desert (7000 ft. above our accustomed Seattle area home) for our vacation. Routines were interrupted, we were distracted, and while we were visiting with family Stephen seemed even less energetic than usual. It was hot and dry. We all felt a little limp. Just prior to our return trip home, both Stephen and I came down with a cold virus with fever. Five hundred miles from home Stephen began throwing up. We decided to keep going and be sick at home in our own beds. Three hours after throwing up, Stephen became noticeably limp in his car seat. Concerned, I took him out and lay him on a pillow. He seemed very ill, began rolling his eyes back in his head, and twitching. We broke all the speed limits and headed for the closest emergency room, about 40 miles away.

At the emergency room in LeGrande, Oregon, a team of nurses worked for a good 20-30 minutes to get an IV in. Finally a scalp IV was established. Examination and x-ray showed no ear infection, no lung problem. When permission was sought to do a spinal tap I remember thinking, is this really necessary? I was still in denial that something serious could actually be wrong. Spinal tap was negative. Blood glucose was not too bad at 58. Conclusions were that he was severely dehydrated and had high white counts due to unknown origin. IV rehydration overnight with D5 and two IV doses of antibiotic perked Stephen up enough to convince everyone he could weather the trip home to Seattle; we were to check in with his pediatrician the next day.

Stephen woke for his usual 5:30am nursing, and then slept on and on as I rushed around getting other kids dressed for their day. At 9:15am as I was carrying him across the parking lot to the Dr’s Office I could feel him going limp once again. When I could not rouse Stephen in the waiting room the nurses rushed us back to a room. He began twitching again. The pediatrician happened to be familiar with liver disease and immediately recognized a very large and hard liver upon examination, 3 cm below the right coastal margin. (How could the other doctors have missed it?) He sent us immediately to Children’s Hospital. Reality was beginning to set in.

We tearfully told the story over and over to nurses, residents, fellows, different doctors. More tests: CT scan, all kinds of blood tests. Things that caught attention were large liver, developmental delay, severe axial hypotonia, altered mental status, increased liver enzymes, bicarb of 17, and high lactate level of 8.8. Glucose was 60 at admission. More tests ordered: EEG, MRI, blood work-ups, urine organic acids. By the next morning Stephen had episodes of hypoglycemia, hypotension, and temperature instability. He was very puffy, extremities were cold; he was sent to ICU where he was warmed, received a blood transfusion and dopamine drip due to low blood pressures. We were petrified. EEG revealed slowing consistent with encephalopathy. Echo Cardiogram appeared normal. Urine organic acids suggested long chain fatty acid metabolism defect. Acylcarnitine profile confirmed suspected LCHAD. The new words made our heads spin. My husband and I were ecstatic when told it was treatable.

He began a low long-chain fatty acid diet of Portagen plus Polycose alternating with breast-feeding. Carnitine supplementation began. Initially, things seemed to be going well, despite a femoral blood clot from a pic-line. But we were at the beginning of a roller coaster ride. Every day seemed like a week.

Day 5: Stephen was again having a hard time keeping things down, NG tube inserted; fever began again, more problems with vomiting. The tube was changed to ND, bypassing the stomach.

Day 6: He was breathing increasingly faster and seemed hollow-eyed. Fat content of diet was lowered to about 5%. Breastmilk was taken out of the mix. It took two days of increasingly worse symptoms to convince the doctors that the normal LCHAD treatment was not going to be enough.

Day 8: Stephen was transferred to PICU once again and placed on beta blockers. We struggled to understand how bad things were.

Day 10: Stephen’s right lung collapsed, filled with fluid. Emergency ventilation. Fever raging with pneumonia. Reality that we may lose Stephen hit like a brick wall.

Day 11: O2 needs exceeded what normal ventilation could provide; switched to hi-fi oscillator to avoid lung damage if possible. Things happening so fast.

Day 12: Right lung failing. Air leaking in to the space between lungs and heart. Stephen is puffy and obviously uncomfortable.

Day 13: Emergency Care Conference called. The conf. room filled with surgeon, genetics, neurology, cardiology, PICU attendings, nurses, counselor, and hospital ethics personnel. We felt the gravity of the meeting. We were given the facts (heart/lung failure) and the choice to either try ECMO, a type of heart-lung bypass involving surgery, or to discontinue all support and spend our final moments together in a quiet room. I ached to hold my son, and had been denied that privilege for four days. We did not want to prolong obvious suffering. We had one hour to decide. While my husband and I prayed and talked it over with each other, PICU prepared for either decision. We chose ECMO. We said our goodbyes to him before the surgery. His skin was tight and swollen with air leaking into all tissues. Tiny tears trickled down the sides of Stephen’s face, though he was sedated beyond awareness. We put Stephen in God’s hands, with many prayers for the surgeons and caretakers. Every hour seems like a day; we hung onto life hour by hour.

Day 15: Still stable. Air pocket dissipating. A pic-line removed due to swelling and probable blood clot, making both left arm and left leg off limits for lines.

Day 16: Good news of the day was that he was able tolerate a little more nutrition in the ND tube. Previously Portagen was diluted with Pedialyte 50/50, delivered at 5cc/hour. That’s 1 teaspoon! Today he was up to 75/25 Portagen and 10cc/hr. He’s been kept alive with hyperalimentation (IV food) minus the lipids (fats.)

Day 17: PICU attending tried something radical. Surfactant therapy, normally used in premies with underdeveloped lungs, not known to be especially helpful in 8-month olds. Within an hour Stephen’s lungs were doubling the oxygen delivered and began re-inflating.

Day 18: Another dose of surfactant. Impressive response as lungs expand to hold more air.

Day 21: After nine days on ECMO, Stephen was OFF, and back on oscillator. I was thrilled and terrified, knowing Stephen could never go back on ECMO.

Day 22: Doing great; changed to regular ventilator.

Day 23: A major setback. Stephen starts spiraling downward again with respiratory failure and is back on oscillator. We prepare for the worst and sign a “Do Not Resuscitate” (DNR) order.

Day 24: Stability. Stephen is teething like crazy in addition to all this insult to his body! This new setback has prompted questioning the fat content of the diet. There is some speculation that perhaps 5% fat is too low, and/or that he doesn’t have what he needs to make his own surfactant, presumably palmetic acid. Going with that thought, fat% is increased to 30%. Breastmilk is identified as the best source, and requested if possible. I relactated after 18 days of shutting down.

Day 28: Enough improvement to go back to regular ventilation. This time they eased him down to it in micro baby steps. Stephen is a fighter.

Day 30: Stephen’s 9-month birthday. We celebrated in party fashion, grateful for the opportunity to have Stephen up to that point. The best part of the day was the nurses let Val and I hold Stephen, ventilator tubes and all. As a team lifted him into our arms we both cried and cried. It had been three weeks since we had the privilege. Stephen was still sedated out of his mind, but he had less of the paralytic drug, and was “with it” enough to pull the hairs on Val’s arm. Rather than restricting visitors to two in the room, the staff allowed our three girls to be there with us. Bless them! We rescinded the DNR.

Day 32: We held Stephen again. This time he looked us right in the eye and gave us the best smile possible with a piece of tape on his upper lip holding the respirator tube in place. He kicked his leg like he does when he is happy. It was a great experience! He looked very good and puffiness from retaining fluid is gone.

Day 34: Finally off the ventilator! On less sedation and much more aware of his misery. It tugs on one’s heart strings to see his discomfort. When he cries, no sound comes out because his throat is so sore. Hacking cough, which is a good thing, we are told.

Day 36: The last IV line was removed. He is taking full feeds through the ND tube.

Day 37: I can hardly believe this is the same kid. Stephen is able to sit with support, holding his head with own power. Able to clap, smile, flirt with the nurses. He hates the nasal oxygen tube and feeding tube, and manages to hook his finger under it and pull at often as possible.

Day 39: Val was holding Stephen, but I was close by and we were both interacting with Stephen. Stephen reached up for my face so he could maul it with his hands, found his voice and said MA! Val insists he really meant DA! But I know the truth. We were in heaven. It is the first time we have heard his voice in a month.

After approximately three more weeks of recovery, including g-tube placement, Stephen came home, thankfully without need for additional oxygen. Total hospital time: 9 weeks. Dietary plan: 10-12% long-chain fat, carnitine supplementation, antioxidant supplementation, Portagen. Just prior to his release, we were informed that the diagnosis was officially changed to Trifunctional Protein Deficiency; he was deficient in LCAT enzyme in addition to LCHAD.

Stephen is now a handsome, bright, and rambunctious preschooler who will be five in November. He dreams of being an astronaut or a doctor, makes “deals” with us all the time to try and get what he wants, and teases his sisters mercilessly. He has more energy than all of us on most days. He has recovered completely from the heart and lung trauma and from most of the developmental delays.

Stephen still works a little to be understood when he speaks, but that does not stop him from speaking…rather, he just gets frustrated with the rest of us. He is slightly weak in the trunk, but that doesn’t stop him from doing anything he really wants to do. And he has a little vision loss in one eye due to retinal damage, but he compensates beautifully, fooling even me until he failed a vision test at 4 years. He began reading phonetically when he was just over 4 years old.

He continues his low fat, high carb diet with Portagen, MCT oil supplementation, Carnitine and anti-oxidant vitamin therapy. He eats pretty normally, within the limits of his diet, and knows to ask if the food or treat is “Stephen friendly.” At night we connect his g-tube to a pump to deliver a nighttime and middle of the night dose of formula, although at this point he can fast for up to 9 ½ hours with no ill effects at night.

With all the factors involved in a child’s well being and ability to survive, it seems completely unfair for anyone to say that LCHAD OR Trifunctional Protein Deficiency (TFP) is not effectively treatable. Doctors do not truly know which child will respond to treatment until the situation has played out. How can Stephen have TFP, have such an ugly crisis, and seem so normal at age 4 1/2 when the data all suggests another outcome? It seems Stephen is one who truly does do well on the regimen. No one knew at the beginning, or even dared to hope. He has done as well or better than any LCHAD (generally considered less severe) child who has found effective treatment. We all worked and worked and worked during the first four years of his life to run marathon. Doctors, therapists, and parents saw reasons not to give up. We had a good chance of ending up with a brain-damaged child, or no child at all, and we accepted that responsibility when we said “ECMO.” But the reality is that Stephen is now a bright child, stable and comfortable with his routine of meds & formula, with the same hopes and dreams of any child. He has a future full of opportunity.

Not everyone has the luxury of living close to a Children’s Hospital staffed with experts. We were fortunate. Treating Stephen’s crisis & recovery cost around $500,000. I would think the insurance companies would be BEGGING every state to do the $40 screen and prevent costly crisis and recovery. I would think the states themselves would recognize that the unscreened kids who have LCHAD and TFP are beginning to survive due to increased awareness and better ICU doctors. These kids most likely WILL end up in an intensive care unit somewhere, with parents and doctors searching for answers before death or disability occurs.

Would non-screening states tell the doctors to quit saving these kids? I think not! Yet some think it is better not to jump into screening disorders that they believe (according to existing data) are not treatable. Although Washington State seems hesitant at this time to screen without a full infrastructure in place to follow up with false/positive tests and “mild” cases (alas, funding woes!,) the hospitals are committed to treating whoever comes in the door regardless of ability to pay, and are committed to saving lives. One doctor used the word “mild TFP” when referring to Stephen’s diagnosis! We are hopeful Washington State and others will move beyond the discussion stage and begin screening for LCHAD and TFP. The anxiety parents will feel if informed of a positive test is better than the anxiety of seeing a child in crisis with no answers.

I took the time to write this story to offer proof that there are TREATABLE cases of TFP and to suggest that the burden of decision whether or not each case of a metabolic disorder is treatable lies with the individual patient’s doctor and parents, not in a board meeting. Does the state have an obligation to provide full local support if they screen? I would have been happy to just have a direction, a list of professionals who had experience, whether out of state or not. Every state can hardly be expected to immediately have professionals on hand with years of experience. I hope our story will find its way to any state debating the benefits of screening for LCHAD and TFP.

Diane and Val Nielsen

April 10, 2006

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