Not long ago, my son Luke started to complain about stomach pain. He would sometimes stop in the middle of play, look at us with his pitiful face and say “my tummy hurt.” We were really at a loss as to what we should do. I had told our GI who wanted to give it some time. One month later, his tummy was still hurting, and I insisted that our GI do something about it. After much discussion, we decided to do a endoscopy and colonoscopy.

These procedures involve running a tube with a camera down the throat and up the rectum to take pictures of the digestive tract. They look for any abnormalities or polyps and take very small biopsies. The child is under anesthesia during the procedure, so they have no idea what is going on, and they have no memory of it.

The day before, we had to put Luke on an all-liquid diet. He could only have clear fluids such as Kool-Aid, apple juice, clear sodas, clear broths, Jello, and all of the Popsicles that he could eat. They told us to make sure that nothing he ate contained red food dye since that could show up as blood during the procedures. When he woke up on prep day, we fed him a huge breakfast of pancakes, eggs, and sausage. He wasn’t scheduled until 9 AM the next day, so we had until 9 that morning to feed him as much as possible before the liquid diet started. Once it did, we offered him something every hour to keep his stomach full of liquid so that he wouldn’t feel so hungry. I also dropped his younger brother and sister off with their grandmother since we did not feel that it was fair for Luke to see the other children eating, and they were too small to understand why they should not eat in front of their brother. We spend a good part of the day in distraction mode to take his mind off the fact that he was only consuming clear liquids. My husband took him to a movie in the theater, we rented a new movie, we played games and did whatever we could to keep him happy and distracted.

The hardest part was giving him the medication to cleanse out his colon. It was recommended that we give him magnesium citrate. We had heard from several people that it was pretty nasty medicine, so I called my doctor and they told us we could give him Miralax which is tasteless, gentler, and usually does the trick. Honestly, we probably started too late because I think Miralax takes longer to work than the other medicines, but we gave him several doses mixed into whatever drink he had requested over the course of 4 hours starting at 4:30 PM the night before the procedures. He drank it with little fuss, probably wondering why we were so insistent that he drink all of his Sprite. The hardest part were giving him the suppositories. It is near impossible to give a four year old who is all ready afraid of medications a suppository. He screamed “No Thank You, No Thank You” the entire time while we held him down and squeezed his little bottom together to keep it in. It worked fairly quickly. We had to do it again at 4 AM the morning of the procedure. We were honestly afraid that he was going to have a heart attack, but it was easier. His being half asleep probably helped.

On the day of the procedure, we arrived at Vanderbilt Children’s Hospital at the bright and early time of 6 AM. I swear some hospital staff are way too happy to be awake at that time of day. We checked in, and were called back. Luke got a special pair of pajamas and a stuffed gorilla to add to his collection of simian creatures (The kid has a thing for monkeys). He played around in a child sized car until it was time to go. When they came to get him, they let him “drive” his car back to the operating room. He didn’t even miss us.

Recovery was hard for Luke. It always is. He took a long time to wake up and when he did you would have thought that we were the meanest creatures on earth for disturbing his rest. He cried and proclaimed that he did not want to go home. I’m really hoping that that was the drugs talking because who would want to stay at the place where all of the “pokies” happen? Eventually he came to his senses. They required him to eat or drink something before we left, and they warned us not to let him climb our stairs by himself or leave him alone for long periods of time since the medications that they had given him could cause him to lose his balance easily. By the time dinner rolled around, we had our little boy back to normal.

The tests came back clear of any physical issues. We are still at a loss as to what is causing the stomach pain, but lately it has been better. We just hope and pray that we never have to put him through that again and that the stomach pain is gone for good.

Every year around New Year’s Eve, my husband and I try to take time out of the chaos that is our daily life and make goals for the coming year. We also like to reflect on the year that is passing and on life in general. I was thinking about this the other day when a commercial for St. Jude’s came on the TV. The one reminds us to be thankful for our healthy children and remember those who are not. It makes me cry almost every time. A reminder that it could be my sweet boy so sick and missing his beautiful, curly hair.

Even though we have to live with this syndrome every day, I have to be thankful. Thankful that we are not at St. Jude’s, but, if he did develop Leukemia or Aplastic Anemia, we live in a country where medical care is readily available. I am thankful for the doctors who, even though we’ve been to some who are not the most sensitive (complete jerks), are keeping a close watch on my little boy. I am thankful that we have pharmacies with the medications that we need right down the road because I have been to areas in the world where parents cannot get the medicines that their children need.

I wish every day that my children did not have to go through life with these syndromes, but I am thankful for my children and everything that they have taught me about strength, faith, and love. I am learning to stop asking “Why?” and rely on my faith that everything is going to turn out fine. I have realized that I am not in control (which is really hard for a control freak like me) and that I must “let go and let God.”

In this coming year, I am going to try my hardest to be happy, have faith that all will be well, and live each day to the fullest. This is what I want my children to learn for me. Every day is a gift and every moment that I have with my children is a blessing. Some days are harder than others, and I’ve had plenty of breakdowns, but I am going to try my hardest to make every day a fantastic day. I wish each of you a Happy New Year. May it be filled with love, happiness, and sense of peace. God bless.

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It is every parent’s worst nightmare: Learning that there is something wrong with your child. I remember that feeling all to well when a doctor told me that my son Luke probably had Cystic Fibrosis. I felt as though the room was shrinking, my brain went numb, and all I wanted to do was hold my baby and cry. It turns out that my son did not have Cystic Fibrosis, but a rare genetic syndrome called Shwachman-Diamond Syndrome. It was a very long and difficult road to diagnosis and there were many times that I almost forgot about the one person who understood how I felt the most. My husband.

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This is Luke. Luke is now 23 months old and he has Shwachman-Diamond Syndrome. It was a very long road to diagnosis for us. Everything seemed to be just fine when he came into the world on June 2, 2005 weighing in at 7 pounds even. Life was just perfect with this little angel. Then, when he was 8 weeks old, he started getting strange rashes and, not long after that, he stopped gaining weight. Doctors were at a loss to explain this. At first they thought it was a feeding problem, so we went from nursing to bottle feeding. At four months he still was not gaining weight and he had developed reflux and frequent, greasy, foul-smelling stools. He became so ill we had to be put in the hospital for four days. While in the hospital the doctors discovered that his liver and pancreatic enzyme levels were off and they thought that he might have developed an allergy to cows milk and soy milk. As a result, Luke was put on the “BMW” of baby formulas and all of the testing began.
The first thought the doctors had was that everything was just allergy related, but after a month on Neocate (a special formula for milk and soy allergies) there was not much improvement in Luke’s blood work, digestive issues, or skin problems. They decided to do a scope, colonoscopy, and PH probe to see what was going on inside the little guy. It was one of the worst moments in my life when I handed him over to be put to sleep for the procedures. The absolute worst moment came soon after when, after the procedures were over, the doctor took us into a little room, sat us down, and told us that he thought our child had Cystic Fibrosis. It took every ounce of will-power for me not to break down into a little puddle in that small, window-less room. We started with the usual round of CF tests. The sweat test came back negative, but because Luke was so young, the test could have given a false negative, so we went back for a gene test. It came back negative as well. The doctors did not have a clue what was wrong with him.
When he was 10 months old, Luke developed petechaie all over his body. A trip to the doctor revealed that his platelet counts had drastically dropped and soon after that he became neutropenic. With the combination of the blood and digestive problems the doctors started thinking Shwachman-Diamond Syndrome. Many people told us how sorry they were that our son had a syndrome, but I was relieved. I finally was getting close to an answer to the great mystery, and now I could start treating my son and get him on the road to good health. A fecal fat test confirmed the lack of digestive enzymes and the gene test for Shwachman-Diamond came back positive. On a funny note, Luke apparently inherited the exact same mutation from both my husband and me. The doctors called us to ask us if there is any way we are related (we are NOT by the way.)
We started Luke on artificial enzymes and replacement vitamins and we soon had a different boy on our hands. I never thought I would be so excited at the sight of a firm, poopy diaper! We rejoiced over every ounce gained, and started looking to the future with hope. It is not going to be an easy road. He has some developmental delays, his liver enzymes are still elevated, and he will have to have a yearly bone marrow biopsy. Despite all of that, life is wonderful and I feel that God has truly blessed us with this sweet little boy.

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Shwachman-Diamond Syndrome is a rare gentic sydnrome that affects the pancrease, bone marrow, and other organ systems in the body. Shwachman-Diamond is the second most common cause for pancreatic insufficency in children, with the most common being Cystic Fibrosis. Children with Shwachman-Diamond are frequently thought to have Cystic Fibrosis, thanks to the greasy stools present in most cases.

A person with Shwachman-Diamond will usually have decreased cell counts with the most common being a decrease in the white blood cells called Neutorphils, which are needed to fight of infections. There is an increased risk of Leukemia and Aplastic Anemia (bone marrow failure) for those who have Shwachman-Diamond. Because of this, many doctors recommend that patients with Shwachman-Diamond have yearly bone marrow biopsys and frequent blood checks.

For more information on Shwachman-Diamond Syndrome, please visit Shwachman-Diamond America.

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Inherited Bone Marrow Failure Syndromes – Shwachman Diamond Syndrome�

The fourth International Congress on Shwachman-Diamond Syndrome to be held at Harvard.

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