Have you ever heard of this before?

[curecf4evan]

My 8 month old son was diagnosed with CF 5 months ago. He is very small. He was 5 pounds 10 ounces when he was born. I thought this was strange because my daughter was 10 pounds when she was born. He is now 8 months old and only weighs about 8 and 1/2 pounds. We had the genetics testing done to see what mutation of CF he has. They tested his father and myself as well. He turns out that his father isn't a carrier of CF. We did further genetics testing and it shows that I am a carrier of the Delta F508 gene, which he has 2 of. It turns out that he has Maternal Uniparental Disomy of his number 7 chromosome. Apparently when my egg was forming and my chromosomes were copying and splitting they copied incorrectly and he ended up getting two of my number 7 and none from his dad. His genetics doctor says that he is only the 3rd confirmed case of this ever. Have any of you ever heard of anything like this? Also he has severe feeding problems. He has a g-tube right now. But he vomits all the time. He doesn't have any reflux according to his upper GI, but his GI doctor says that she thinks he has something that is rather common in kids with CF where they get some sort of build up of mucus in their intestines or bowels which doesn't allow their food can't pass through and they throw up. My son has an extremely complicated case, and his doctors sometimes just look at him and scratch his head. I was just wondering if anyone else out there has problems like this. Any information will be helpful. Thanks.
Jen

 

[luke]

Jen,

Nope, never herard of that one. If I remember correctly we had a poster on here that had a family member that was a carrier but had 2 defects on the same chromosone. Genetics are a strange animal! At any rate good luck with everything.


luke bailey, mba rrt

 

[MasonsMom]

Jen,

My son Mason and my husband both have 2 mutations on one chromosome. When we were going through the genetic testing, we were told about the situation that is going on with your son where the chromosomes split and copied the mutation. In fact, there for a while they thought that is what happened in Mason's case. I will keep you and your family in my prayers.

Velvet

 

[anonymous]

Has your son done a PH probe? It is a 24 hour test for reflux. An upper GI will only show if your son refluxes at that specific time that they do the upper GI (not very reliable). Also an endoscopy will show if there is chronic inflammation in the esophagus, but it requires sedation.

My daughter also has a g-tube and she will begin to vomit when she is "stopped up". Daily doses of Miralax has helped this problem. Some doctors prescribe Reglan which speeds up stomach emptying but it can have side effects.

Maybe you can inquire about some of these things with the GI doctor.

Maria (mother of 2 year old Samantha, w/cf)

 

[anonymous]

My daughter had a blockage at birth and she now has to take enzymes called creon...they help break down food so it is easy to absorb....I was told that the bowels can become inflammed and can block. I have to make sure she goes to toilet every day...if not she needs a laxative to avoid any blockage in her bowels. Without enzymes Children with CF dont put on weight.......Could your child have a slight blockage which makes it more difficult to pass food ( obviously some food could be getting through but the rest that cant makes your child then vomit). At one stage my daughter had a contrast examination which puts dye into the stomach and x rays are taken to show that the dye passes all the way through the bowel. On the first x ray it showed the dye going all the way through but there was still a blockage. She had surgery and there were loads of thick sticky mucus stuck.....If your doctor thinks it isnt passing through because of a blockage...will they either give your child medication to break down the blockage or look at surgery to clean out the bowel.....
I know this may seem drastic but the blockage (if there is one) needs to be treated. My daughter had surgery and now everything is fine.
Enzymes are a must...I maybe teaching you to suck eggs but some CF centers are better than others even in this day and age...
Good Luck

 

[anonymous]

My son has had the endoscopy and it looked normal. They are planning on starting him on Miralax as soon as he starts eating again. I will ask his GI doc about the PH Probe and the contrast examination. He used to take Creon 10 and then they switched him to Ultrase which is what he takes now. They have discussed changing him again to Viocase, I think that is what it is called. I believe that is some sort of powder that they can put right into him formula that goes into his g-tube. Part of his problem with not gaining weight is his chromosomal abnormalities. Apparently children with the UPD #7 with no CF are just very small to begin with. So we do not know if his growth problems are related to that or his CF. There are no other children like him to compare him too. But thanks for the info on the GI stuff. And of course any more info would be greatly appreciated.
Jen

 

[anonymous]

My daughter threw up all her feedings, it turned out she had a milk protein allergy. Is there blood in his stool?

 

[anonymous]

The is no blood in his stools. He has actually since been switched from Pregestimil to Peptemen Jr. He is doing really well with it. He has actually gained about a pound in the last week. He threw up once this morning, but I think it was just because he was mad and crying. They have also given him Miralax which I think really helped to clean him out. They also changed him enzymes to Viokase so they can just add it to his feeds. He is doind awesome. We have been in the hospital 2 weeks today, but I think we might get to go home tomorrow.

 

[anonymous]

My daughter with cf vomited and refused to drink her bottles when she was a baby. All of her doctors kept telling me it wasn't a milk allergy. When she was eight months old, we switched her to Nutramigen (for milk allergies) and within two weeks she stopped vomiting and started to drink her bottles. We also took out the feeding tube at that time. I know for both of my kids, reflux really improved when they around 9 months or so when they were sitting up most of the day.
Sharon, mom of Sophia, 4 and Jack, 2 both with cf

 

[anonymous]

My daughter with cf also had bowl obstruction at birth and MI surgery. She was on 1 1/2 cap of Ultrase enzymes which was fine until i recently stopped breastfeeding her. When she turned one i introduced her to vit D whole milk, she never would drink the milk and she would go poopy 10 xday with runny mucus and a highly potent smell. We upped her enzymes and previcid and that didn't seem to help. She also woke up in the night with a poopy - never before had she done this. She would also cough alot when she drank the milk. I switched her to SOY milk and SOY yougart ~ it is a HUGE DIFFERENCE!!! She guzzles 3- 8oz cups aday. She actually got a little constipated when we first gave it to her so we now only give her 1 enzyme capsule with each meal. It is perfect!! Her poops are creamy and no mucus, and as normal smell as poop can get!! If you are not on soy formula i would try switching!! Maybe when he turns one just try the soy products too and see if it helps!! It really has made a night and day difference for us!!!
Good luck, my thoughts are with you!
Blythe
Mom to Brinly 1 wcf and Birgess 3 1/2 w/o