Ben was born one week early, Sept. 15, 1995. It was an uneventful pregnancy. A C-section was scheduled because Ben was breech and the doctors could not turn him. His apgar score was 4 and 8. Ben weighed exactly 7 pounds 0 ounces, 21 inches long. He was noted to be a poor feeder when first born so they put Ben on Nursoy.

Ben and His Bear Together

We came home from Waconia Hospital Sept.18th. Being first time parents, we were thrilled having our little boy home. It was such a wonderful feeling! We were a little concerned about Ben’s feeding habits. My motherly instinct told me something was just not right. I called the doctors clinic and went for a visit. We immediately had to be rushed to the hospital (Sept. 25). Ben was dehydrated, weighing 5 pounds 2 ounces. Our then home town doctor felt we weren’t feeding him correctly and said we were ‘over reacting’. The plan was to give Ben IV fluids and then send him home the following day. The following morning I insisted on sending Ben to Children’s Hospital in Minneapolis to get a total check up. After his transfer Ben was partially rehydrated with IV. After 24 hours at Children’s, bottle feeding was encouraged. For several days Ben was very sleepy and disinterested in bottling. He was not able to take more than 1.5 - 2.0 ounces in one feeding, so the rest of his feeding was by nose tube through the night. The last two days of his hospitalization, Ben did not need any NG tube supplementation. During his two week stay at Children’s, Ben went through an abdominal ultrasound, upper GI study, VCUG, and a head ultra sound - every test was normal.

The diagnosis was ‘failure to thrive’ and Gastroesophageal Reflux. Medications were Zantac, Propulsid and reflux precautions. We were sent home October 7th., 1995. The next two weeks a public health nurse came to visit twice a week for feeding and weight gain assessment. My husband and I kept close records of Ben’s intake and output. We were told by our doctor that Ben should have 13 - 16 ounces per day. What a chore that was! The schedule was that he should be fed every three hours. We would spend 1 - 11/2 hours attempting to get between 1 to 1.5 ounces of formula. It took so much energy for Ben to eat he was just exhausted and no interest for his next feeding. But we had no choice, we did not want Ben getting dehydrated again. In the two or three days prior to his next admission, Ben’s total formula intake had decreased to 10 ounces a day. He had increased in stooling to 12 times a day from his normal 4 to 6 times a day, and his stools became runny. On November 4th, 1995, Ben was admitted to Children’s Hospital again for diarrhea, weight loss, and inguinal hernias. During our second stay Ben went through an endoscopy, repeat of upper GI, several sweat chloride testing, echocardiogram, thryoid testing, metabolic screen testing, BAER testing, many, many blood tests, sampling of his pancreatic enzymes, two MRI scans of his head, urine metabolic screen, EEG, and several chest X-rays. Ascites was noted, a distended abdomen, heart murmur, hemoglogin was way off balance, and low albumin of 1.3 were all a concern. Ben received many infusions of albumin, as well as packed red blood cell transfusions. Besides all of the above, Ben had difficulty keeping peripheral IV’s in, which he needed to keep up with nutrition. At least three times a week it would come out or pop. You can only imagine all the bruises! He had to have a central line placed in, but was removed because of infection, so back to IV’s.

The following doctors had seen Ben during his one month stay at Children’s:
* Gastrointestinal
* Hematology
* Cardiology
* Infectious Disease
* Immunology
* Endocrine
* Metabolic
* Neurologic/Ophthalmology
* Occupational Therapy
* Physical Therapy
* Speech Therapy

After one month of testing and observation (11/04/95 - 11/27/95) all the doctors at Children’s Hospital recommended that Ben go to the Mayo Hospital in Rochester, MN or the University of Minnesota Hospital. They were no further with a diagnosis that when he was first admitted. They recommended a nationally known doctor that is highly knowledgeable and respected in the medical filed at the University. Ben was known as “The Mystery Child”. How one doctor put it.... “Ben represents a very complex and difficult clinical picture with an unusual set of findings.” Ben was transferred to the University November 27, 1995 at 2 1/2 months with a diagnosis of failure to thrive, cirrhosis of the liver, chronic diarrhea, and a neurological delay. While at the U, Ben underwent several albumin transfusions, red blood cell transfusions, central lines, many IV’s, hicman, a liver biopsy was complicated by a pleural effusion which required a chest tube drainage, had episodes of fevers with out a source, several lumbar punctures, another sweat test, and many other tests I can’t recall. You would not believe that with all the tests, pokes, and different doctors handling him, Ben was always smiling! He enjoyed laughing and cooing regardless of how his day was going. He never cried unless he was being poked, and that did not last long. I think I cried more than Ben.

As of February 8th, Ben was on 23 different types of medication. All meds were to help keep Ben’s metabolic status in a stable condition. He had been at the U for two months now and still the doctors had no diagnosis. The doctors could not imagine the frustration we, as parents, were going through because they themselves were just as frustrated! I always thought the doctors were the ones with all the answers. It was such a helpless feeling!! It would have been nice if Ben could have come home; that was not even an option for us. Ben required intensive monitoring to detect signs of metabolic unstability. Trained early detection is what kept Ben in a more stable condition.

Exactly four weeks before Ben’s death the doctors diagnosed him. The doctors told us he had a syndrome called Carbohydrate Deficient Glycoprotein. A rare autosomal recessive disorder, with no known cure. The basic biochemical error is not yet known, but it involves a disturbance in the ability of the cells to either produce or break down glycoproteins, which among other things are important for the transport system of the body. The syndrome was recently discovered in 1989. In March 1995, between 100 and 200 patients with CDG were diagnosed in Sweden and the rest of Europe. A few more cases are known, especially in USA and Japan. The syndrome presents differently through various life periods. During infancy, internal organ symptoms are dominant; some may be life threatening. Ben had dramatic complications with type 1 CDG. Survival is limited before the age of 6 years. Causes of death are sever infections, cardiac failure and sometimes liver failure. We were told the news on Saturday and on that same day he developed RSV. He had to be put in isolation. From that day on our little baby Ben was not the same.

From day one every time Ben would undergo a simple procedure, with 5-10% chance that complications would arise, that routine procedure would always follow with some type of complication. Ben never experienced a “routine procedure” without complications. We put everything in God’s hands now. We did not want Ben to suffer any more, with pokes from needles or any other procedure - routine or not. Our main goal was to keep Ben as comfortable as possible. He was filling up with fluids and the doctors did not know how much his heart could handle. They never knew with Ben when things would happen. Remember, he was the “Mystery Child”. The doctors told us things could happen tomorrow or six weeks from now.

On Friday, March 15, he started seizing three times that day and they were lasting longer than usual. He started seizing again at 3:30 a.m. and it did not stop till 8:10 a.m.. Around 6:00 p.m. on March 16, 1996, I picked up my little baby and as soon as I sat in the rocker his stats started dropping (they had never done that before). I held him for a while - such a warm feeling! I gave Ben to Paul, my husband, and Ben’s stats started dropping faster. Our angel Ben died in our arms.We truly believe Ben was waiting for us to hold him one last time. We know that Ben felt our presence with him. Paul and I feel fortunate that we were with Ben till the very end of his stay here on earth. It was a beautiful ending from a beautiful beginning. If only I could hold him one last time...