BRIANNA'S STORY
Type 1b CDG syndrome

My pregnancy with Brianna was not an easy one. I was sick for many months and ended up taking Vitamin B6 and unisom to help the nausea. Brianna did not move much while she was in my tummy, so many non-stress tests were done, but the tests always came out o.k.

Brianna at 3 years of Age

Right before she was born, the doctors were worried about her movement again, but she was born very quickly and everything looked fine. Her apgar scores were normal. No problems noted.

After we got her home, she had problems immediately with her bowel movements. She went for several days without having a dirty diaper, and then went to diarrhea. They switched her from breast milk, to all the different kinds of formula. She ended up on Nutramigen. She was restless and didn't sleep well. We then found out she had reflux and they put her on propulsid and zantac which helped her tremendously. She was then a happy baby. Now she was a couple months old.

In April, when she was 4 months old, she had her first seizure. It only lasted a few minutes and we hoped it was an infantile spasm that would not happen again. A few weeks later she had another one, this time lasting almost half an hour. We took her to the hospital for an EEG and it looked normal. They started her on Phenobarb and then switched her to Tegretol. Each medicine seemed to work for 2 weeks and then the seizures started again. She was having partial seizures, which mostly affected her eyes. We eventually went in for a 48 hour video and EEG which did catch the seizure on tape.

We were also noticing that she did not seem very strong. She was not holding her head up and we were starting to worry. In May, the neurologist told us, all her blood work pointed to her having a genetic disease called Ataxia Telangectasia. It is a degenerative disease with no therapy known. They believed this was was causing her hypotonia. We lived with this diagnosis until July.

In July, Brianna got the "flu" and became dehydrated. We took her in for blood work, and they found her blood sugar was at 25. For an adult, this would be a comatose level. Brianna was still awake but did not have much energy. This was the beginning of a very long hospital stay. We learned that during all the time Brianna had seizures, no blood sugar test had ever been performed. She had had seizures for 4 months needlessly. As soon as her blood sugar was brought up, she sat up by herself for the first time. Brianna was now 7 months old.

They tried for weeks to decide why she was having low blood sugars. They ended up deciding she had hyperinsulinemia, which means her pancreas was producing too much insulin. We tried giving her a growth hormone and cortisol (which is a steroid) and nothing worked for very long. She ended up on diaxocide. Her blood sugars finally became stabilized. We didn't really know if this was due to the medicine or the fact she started eating baby food at the same time. We learned to take her blood 6 - 7 times a day, and we got up twice every night to feed her (bottles) until she was 2. Her development was delayed but after many months of physical therapy sessions, she finally started walking at 18 months.

Things stayed fairly stable and we had a schedule down for constant feeding and monitoring until November 1997. Brianna was almost 2 years old. She seemed to get the "flu" a lot but it never lasted very long. Before November we were able to get through the flu episodes at home. In November she was so sick we ended up in the hospital, and thank goodness for that. While we were there, she developed a blood clot in a vein in her head, and had a seizure. The full blown kind where she ended up paralyzed on her right side for a few hours. She had several in a row. They never really knew why she developed the clot. The only thing remotely possible was that she was dehydrated, but they really did not believe this was the reason.

After a couple weeks in the hospital, Brianna would not take bottles anymore at night. Brian and I were at our wits end, getting up every few hours and trying to get her to eat baby food to control her blood sugars. ( She was a gaggy baby, and never really got into eating "real" food.) Finally we pleaded for help and was told a G-tube was the answer. This was a "taboo" thing to me. I wanted to do this only as a last resort, and, we were finally there.

The day after christmas, we had the G-tube put in. That was one of the best things we've ever done. I only wish we would have done it earlier. I guess, at least we know we did everything humanly possible before choosing surgery. Things went very smoothly even though everyone was worried about further clotting. We left the hospital after 2 days, only to return on New Year's Eve.

Brianna had the flu again, and using the G-tube just made her sick. We spent 7 or 8 hours in the emergency room, with many many attempts to get an IV which all failed. She was admitted to the hospital and the next morning she started bleeding from all the sites they had tried to get an IV from the night before. She had hematomas everywhere, and they still did not have an IV site. It was pretty scary. After finally getting an IV in, they gave her doses of vitamin k and transfusions of plasma. Luckily after 12 hours, things had turned around drastically. Everyone was very confused. How could she have developed a clot a month before and turn around and have problems with her clotting factors? Her protein levels were so low, it looked as if she was malnourished. That surprised everyone. They put her on a continuous drip of Neocate one plus. This formula comes from Great Britain and is very expensive. This was the only food she was allowed to have, and once her body was fed this, her blood sugars would not allow anything else to be given. Insurance called this a nutritional supplement and did not want to pay the $1,000 a month it cost. (We did find a wonderful lawyer and after 4 months the insurance company agreed to pay for it!)

After a couple months on the continuous drip, her protein was not as good as they would have liked and her liver enzymes were extremely elevated. So in February 1998, we headed to Mayo for the third time. They did many tests including a liver biopsy, fasting test, scopes, etc. The liver biopsy showed she had a congenital liver fibrosis. She was given several transfusions of plasma, after her liver biopsy because of her clotting and bleeding problems. She definitely had a factor 11 deficiency and antithombin III deficiency. They were also preparing us that we may have to remove almost all of her pancreas to control her blood sugars, when they got results from the fasting tests that were the opposite of our previous tests. The diagnosis of hyperinsulinemia that we had lived with, and treated for one and a half years, looked inaccurate. Wow. What a roller coaster!

It was May 1998 that we received the correct diagnosis of CDGS type 1b. The finality of the diagnosis came crashing down on us in the beginning, but it was definitely a relief to have an answer, the correct answer.

A week later we had an appointment with DR Patterson at Mayo and Brianna was put on the mannose study. She has now been on the mannose for almost 9 months. She is 3 years old. Her blood coagulation factors are normal and her protein levels are the best they have ever been. Her blood sugars have improved but she is still on the continuous drip at night and she is bolused (pediasure) during the day. We are currently going to a feeding specialist to help her learn how to eat. Developmentally she is where she should be. The only thing we notice is she is not steady enough to walk up and down the stairs by herself. She has always been sensitive to bright light, so she wears sunglasses a lot outdoors. She also has cyclical vomiting syndrome. At least we think so. She gets terrible stomach pain every 8 weeks or so. The pain gets so bad all she can do is lie down and then she starts vomiting. The episodes have been changing some the longer she's on the mannose, so we're hoping maybe they will go away completely. She continues to have high liver enzyme levels, which no one can explain or knows how to treat.

Brianna is a very happy little girl. Since going on the mannose, she has gotten a lot more energy and has consequently not taken a nap since then. (That was quite the adjustment for Mom and Dad, but a happy one! ) She's our little angel. The mannose study has been a lifesaver for our little girl. And the CDGS family network is definitely a lifeline for mom and dad.