Jacob was delivered by C-section August 18, 1999 at 3:56 a.m. after a long and hard labor. He weighed 8#5oz and was 19.5 inches long. He looked beautiful.
Jacob was born with what is called non-immune hydrops, which means he was swollen, or full of fluid. This resolved after a week in the Special Care Nursery. Everything seemed fine with the exception of a low platelet count, which no one could satisfactorily explain. Jacob received a platelet transfusion his first day of life. Jacob lost about 15% of his body weight in the first week at the hospital but was nursing very well. We were sent home. After about a week at home the feeding problems began. His time nursing decreased steadily and his weight gain was poor. At three weeks he was back in the hospital with failure to thrive. We were sent home eight days later and after numerous tests with a feeding tube in his nose and no explanation for his feeding difficulties. His platelet count had returned to normal. At 6 weeks of age Jacob was readmitted with vomiting, pericardial effusion (accumulation of fluid around the heart) and slow weight gain. After several tests and evaluations by several doctors Jake’s doctor told us she suspected Jacob had CDG. Blood was sent to Mayo for testing. One week later the test results confirmed Jacob has CDGS.
We were directed to the CDG Family network website. The people we have met through the family network have been wonderful, offering lots of support and information. They are a great group of people.
Since Jacob was still not able to gain an adequate amount of weight, the decision was made to place a more permanent feeding tube. On October 13, Jacob had a gastrostomy tube placed surgically into his stomach. One day later, he had emergency surgery to repair his stomach after the tube fell out and stomach contents leaked into his abdominal cavity. Jacob spent two weeks in the ICU receiving IV nutrition and lots of antibiotics. He was very sick from his abdominal infection. His blood albumin level and serum proteins got extremely low. Due to this, healing is a very slow process for Jacob. On October 19 Jacob went back to surgery to add additional stitches to his abdominal incision. He was leaking fluid from his abdominal cavity through his incision.
Despite all of everything Jacob has been through so far, he proved to be a strong little guy. He began smiling a lot, and loved his toys and his pacifier. October, 22 we had Jacob baptized in the NICU. It was a time for celebration of Jacob instead of always worrying about his medical problems. Despite being in the hospital it was a beautiful ceremony. Jacob slept through it all.
The pericardial effusion is back. Doctors are unsure exactly the best way to treat this. Surgery can correct this but it would be too risky for Jacob right now. Jacob is scheduled for a second tap of his heart, a procedure in which they withdraw the fluid out from around his heart with a needle. He will also have PE tubes placed in his ears, there was fluids there as well.
Jacob is beginning to gain weight with a special formula called Pregestimil making it easier for him to digest. We have begun occupational therapy to improve his strength and flexibility. We were very surprised, when on Nov 10, Jacob popped out his first tooth , and a second one next to it will soon follow.
November 20.
We were able to bring Jake home after a 7 week stay in the hospital. We were so excited. No more days spent at the hospital (for now anyway). Jacob tolerated his second pericardial tap very well. Our first visit to the pediatrician came 10 days after we were home and Jacob weighed in at 10# 3 oz. Jacob is smiling more than ever now, and showing off his two front teeth. He's talking quite a bit, sometimes very loud. He enjoys looking at himself in the mirror and just stares at the Christmas tree. We are looking forward to our first Christmas together as a family.
December 21. Merry Christmas everyone! We received an early Christmas present; the pericardial effusion looks like it is going away. There was fluid around his heart a month ago and a little more two weeks ago but now there is very little. Jacob had a repeat hearing test, it’s called a BAER (brainstem auditory evoked response). Unfortunately he shows moderate to severe hearing loss, although you wouldn't always know it because he seems so alert and responsive. We are relieved to know he can be helped with hearing aids. At four months of age Jake received hearing aids. After the New Year Jacob will begin home Occupational Therapy, Physical Therapy and a teacher will be visiting us from the school district to help him with his development. Our new pediatrician also arranged for us to be seen in January at Mayo by a doctor who has seen a dozen or so kids with CDG.
February 10, 2000. Jacob had a visit at Mayo clinic with pediatric neurologist Dr. Patterson. Dr. Patterson has seen about 10 kids or so with CDG and was very helpful in answering some of our questions. We also received Jacob's typing; he is Type 1A, the most common form of CDG. Jacob received hearing aids and glasses this past month. He is nearsighted and his eyes cross occasionally. I think he finds life much more interesting now. We can read him books and he actually can see the pages. Jacob also saw the cardiologist to evaluate his pericardial effusion. The effusion continues to remain small. Our pediatrician feels this may no longer be a problem for us. His weight continues to blossom. He has reached 13# 7 oz!
At eight and-a -half month’s Jacob is doing well and growing! He smiles, talks and giggles all the time now. He loves to show off his seven teeth. One of the things we have been working on is feeding him different baby foods by mouth. So far his favorites are apples and bananas. Feeding him can be quite a challenge though. He doesn't take too much but we are working with him to increase his interest in food. Jacob continues to get his therapies at home, OT (occupational therapy), PT (physical therapy) and ECSE (early childhood special education) teachers. They all feel he is doing well. His flexibility in his knees has improved some. Currently we are working on increasing his strength for sitting up.
A recent doctor visit was with the ophthalmologist. His eyes have begun to cross a little more so we are patching his right eye two hours a day to increase the strength of the left eye. Jacob isn't too happy about that. We have also recently seen the cardiologist. The pericardial effusion is almost nonexistent. YEAH!
October 11, 2000 Jacob is ONE! Jacob turned one on August 18. We had a big celebration with friends and family. It was really a good time. We've had a busy summer. We even made it to the lake a couple of times. Jacob enjoys boat rides and being outside. He's been in a lake and a pool and didn't seem to mind either too much. Jacob is growing and continues to make slow but steady progress in strength. He has fairly good head control now and we are working on sitting up. He can't roll over yet but has mastered rolling side to side with ease. He loves to sit up in his special chair, and bang on his xylophone. He likes noise, and makes lots of it himself. Like any toddler he wants to be on the go. He weighs in at 20 pounds now! He is getting to be quite a load to carry. Overall his health has been good. We did have three hospital admissions in August-September, and unfortunately he spent his first birthday in the hospital needing IV antibiotics for a urinary tract infection. The other two admissions were for stomach problems, diarrhea, vomiting and dehydration. He still has a lot of stomach discomfort and can become dehydrated very easily. Each time though he bounced back quickly. Jacob is eating more baby foods by mouth; his favorite food is vanilla pudding. Its amazing how he can eat pudding so well but when we switch to the peas it’s a different story. Despite eating more we must still depend on his feeding tube for most of his nutrition. Later this month Jacob will be having eye surgery to fix the crossing of his eyes. His Mom and Dad are very nervous about his surgery. The audiologist will be joining us this fall in therapy and we will begin learning some sign language.
Dec 4, 2000
Jacob develops a case of the stomach flu. He is admitted to the hospital again. This time he seems more ill than he has been. He is also found to have a C-diff infection of his stomach. He doesn’t seem to get much better. The doctors send us home with a very expensive formula but he doesn’t seem to make an improvement. Within a week we are readmitted to the hospital. This time he is bloated. CT scan confirms ascites in his abdomen. With re hydration his body became more swollen. His Mom and Dad are very scared. We spent most of December in the hospital. We went home on Christmas Eve. He really smiled and smiled that night as we opened our gifts. We were so happy to be home on Christmas Day.
Jake is still having several bouts of vomiting. He is no longer able to sit up, there is too much fluid in his abdomen, and it is hard for him to breathe. We started giving him two diuretics, Aldactone and Lasix. I hope this is the right thing to do.
We managed to stay at home for six more weeks before our next admission. Jake kept filling up with fluid. It even affected his breathing at times. Each time the doctor would add more Lasix. Each time it helped a little and then the fluid kept coming back. Jake was growing more uncomfortable. Jake has had a few seizures now, nothing big, we decided not to start any meds for seizures at this time. He began to not tolerate his feedings at all. We were placed on a formula that cost more than $2000.00 dollars a month. It helped for about 24 hours. For the first time ever Jake did not vomit for a 24-hour period. But he continued to have trouble. He was breathing faster and faster. We met with the doctors and begged for one more treatment of Aldactone and Lasix to help him. We placed Jacob in hospice that week. We did not want our baby boy to suffer anymore. We were hopeful though and I felt that Jake would prove the doctors wrong.
About one week later Jake develops severe diarrhea and vomiting. He seemed very uncomfortable. Back to the hospital we went for IV fluids. He seemed better. We brought him home after a few hours of short stay. The next day he was so bright and happy. He would not take a nap. We played all day. I called my husband at work and told him he is going to make it. The doctors are all wrong. Later that evening Jake started to vomit everything up. He started crying and we could not get him comfortable. He started acting different. Our little boy was dying right before our eyes. Jacob died the next day February 17, 2001 at 3:00 P.M. at Childrens’ Hospital in Minneapolis. I held him tight in my arms. Oh, how I hated that moment but I would take it back in a second, to have my little boy in my arms once again....
There has been so much more information on CDG since our son died, some which would have helped Jake I believe. The doctors that cared for Jake had very little information about CDG. The CDG network is so important for better understanding of this disease. I praise all of you for your strength and endurance. Keep up the fight! I will always be there with you in thought and prayers.
eff: 02/05
