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    Posted August 6, 2014 by
    Hatboro, Pennsylvania
    This iReport is part of an assignment:
    Living with a rare disease?

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    A Toddler's Struggle for Answers


    The label “rare disease” is frightening; however not knowing what is causing an ailment is horrific. Waiting months on end and receiving “the results came back negative” is unbearable, but we were fortunate to have our daughter’s latest test come back as positive, regardless of the diagnosis being a rare disease. This may sound horrible, but here the story of Raina.


    Scare 1


    When my wife first became pregnant, we were ecstatic; we created a life that we can love and cherish. Shortly after we learned the news, my wife was experiencing pains which wound us up in the hospital. During the evaluation, the student doctor informed us that it was an ectopic pregnancy and if the embryo didn’t miscarry she would have to give a shot which would dissolve the embryo. I had a panic attack and almost passed out. My wife was extremely upset.
    We were discharged, and two days later my wife had the pains again. We went back to the ER. We told the doctor on call it was an ectopic pregnancy, and he asked us who told us that. We told him when we were there a couple days prior and the student doctor gave us the diagnosis. He said that was incorrect, rather it was very early on in the pregnancy.


    Scare 2


    The joy of hearing that we are able to keep our baby and that there was nothing wrong was a tremendous feeling. For the next several months, things were great. Our baby was growing; two hands, two feet, a head, abdomen, etc., etc. We found out she was a girl, and the perinatal tests came back as everything being healthy.
    Six and a half weeks before the due date at a routine visit to the OB/GYN, they found that my wife’s blood pressure was extremely high. We were put in the hospital and told that my wife had preeclampsia. At 12:03PM on January 16, 2013, Raina was born weighing 3lb 10oz and 16 ½ inches. Her due date was March 3rd, 2013.


    Scare 3


    Two days in to her birth, we were told Raina had SVT (supraventricular tachycardia). We were also told she had hydrocephalus (brain bleed), and possibly an issue with her thyroid. Luckily, the SVT was treatable with a medicine, and the brain bleed stopped. The thyroid test came back negative the second time around, and Raina was released from the NICU three weeks after birth, which was before her due date.


    Scare 4


    For the next 4-5 months, Raina was growing. She did frequently vomit, she had a lot of gas, a lot of diarrhea, and her growth wasn’t superb, but she was growing. Then around 6 months old things took a turn for the worse. She stopped growing, refused bottles altogether, and started to lose weight. She wound up with a blood infection, and was admitted to the hospital and treated. The hospital was more concerned about the size of her head compared to her body, and transferred us to the Children’s Hospital of Philadelphia. Upon arrival at CHOP, the neurosurgeon reassured us that there was nothing wrong with her head circumference, and was ready to discharge us. We reminded them that the original point for admission was the blood infection and poor growth, so they kept us there awhile and discharged us with a diagnosis of failure to thrive. We were advised to follow up with the feeding team at CHOP.


    Scare 5


    The feeding team at CHOP was not a pleasant experience for us. We followed their direction, which was to continue with breast milk and supplement with solids. This was fine, but the problem is Raina continued to vomit after every feed. Her gas and diarrhea got a lot worse. The feeding team’s solution was to feed her more and more each time we saw them. Each time we fed her more, she vomited more. I suspected the issue was lactose intolerance, and when I mentioned this to the feeding team I was scolded (the only term that is as close to what I experienced for suggesting the fact). They were against my opinion, and pushed for more breast milk. As time went on, Raina’s health continued to deteriorate and we wound up in CHOP several more times. During one of the stays, she had an NG tube put in to feed her since she refused the bottle.
    The last time we met formally with the feeding team, I completely lost it and told them the answer is not to feed her more; the more food we push on her the more she screams and refuses the bottle and the more she throws up. I pushed my feelings again about the lactose intolerance, and they said that while her tests didn’t show an allergy, she could have a sensitivity to lactose. They suggested we try Nutramigen. We tried it, and things were a little better but she was becoming distended (bloated) after each feed. Her growth was better, but not good. We followed up with the NICU follow-up doctor, and she suggested we try Elecare. Nothing improved.


    Scare 6


    January 4th, 2014 Raina took a turn for the worse. She was screaming for food, and no amount of food (formula or solids) was calming her down. She wanted more and more. In addition, she was losing weight. To put it in perspective, she took in over 60oz of formula (27kcal per oz), and several jars of solids, but lost weight. We brought her to our local hospital, and they said she was dehydrated (which is impossible with the amount of food she took in). They kept her overnight and gave her an IV. The next day, they discharged us and said to feed her as much as she wants. Well, that didn’t hold over well because we weighed her and she lost more weight. She was inconsolable. We brought her back to the hospital, and they didn’t want to admit her. I begged for an IV to be put in; she looked like a skeleton. They discharged us without giving it another thought.
    The next day, she had blood in her stool. Off to CHOP we went.


    Scare 7


    January 7th, 2014 Raina was admitted to CHOP… again. She had lost 23% of her body weight in the last 48 hours; despite having ate more food than a full-grown adult. Her face and body were skeletal. CHOP had no clue as to what was going on. Several tests were performed, but everything was negative. They did see that her lower bowel was red, which indicated irritation and finally confirmed what I was saying all along; she had a milk and soy allergy. They put in a PICC line (IV feed), which got her weight up. Finally she started to look healthy. She also started crawling, standing, and walking! She also spent her first birthday in the hospital, and was featured on CBS and Fox Philadelphia for CHOP’s Pet Therapy Program.
    Around mid-February, one of the attending physicians thought that she may have a disaccharide deficiency called Congenital Sucrase Isomaltase Deficiency (CSID). We became ecstatic that we may finally have an answer. After further testing, this became her diagnosis. An estimated 9000 worldwide have her disease. It is luckily treatable. We changed her diet, which was tricky because of the milk and soy allergy, and after spending 3 ½ months in CHOP we were discharged with a custom made formula (consisting of Pedialyte, Fructose sugar, microlipids, iodized salt, and amino acid powder) and a G-tube put in (the NG tube kept coming out, and the G-tube made more sense since we were in it for the long run).




    While it may sound absurd saying we were grateful to have a diagnosis of a rare disease, take into account what we went through the first year of her life. Every time we fed our child, we were hurting her. Imagine looking at your child in the eyes as they scream in agony while you are unknowingly pushing a poison into their body. The doctors said most babies would eat the food whether it hurt them or not, but Raina was smart enough to know what caused her the pain; she only ate enough to survive and refused the rest. Cognitively, she is as bright as can be. She is a little behind physically, but now that we know what to avoid feeding her she has been catching up to her peers fast. Her disease isn’t life threatening providing she adheres to a strict sucrose free and low starch diet. She also has to steer clear of milk and soy. Our little enigma can finally live the life she so very well deserves.

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