son may have cf

[silvermonkee]

I wanted to say hi and introduce myself as my 3 month old son may have cf. He has had two sweat tests that both came back borderline (40, 42) and then he had blood work drawn. He was found to have 2 mutations, df508 and pro5leu (p5l?). The doctor, however, was not sure if the second mutation is disease causing so she didnt want to classify him as having cf. He is currently diagnosed as having crms and we have to go back in a couple months for another sweat test. He is growing fine and doesnt seem to have any problems besides a slight cough here and there which im told is normal for babies. My biggest concern is that if he does actually have it, he may not be treated aggressively enough with having the crms diagnosis.

 

[Printer]

Welcome to the world of CF. I have CF. I'm 73 years of age and in September, we celebtated our 51st Wedding Anniversary.

Now to your son. It is extremely important that he be seen by a CF Specialist at an Approved Cystic Center. Local Doctors are not qualified to treat Cystic Fibrosis,

I see that you live in NY, if you will tell us what large city that you live near, we fill direct you to a CF Center.

Bill

 

[Beccamom]

Welcome, you have come to the right place. I understand your concern. My daughter is treated for CF, but not diagnosed. I am diagnosed with CF. I learn a lot about what other people do and ask questions on here about what to ask the doctor. This is how I am getting more confident that my daughter is getting the treatment she needs.

I don't have a lot of experience with treatments for a baby so maybe others will chime in.

For the sweat test make sure it is done at a CFF accredited hospital check the top of this site for a list.

At three months I would want to know if my baby was pancreatic insufficient. This is tested by a fecal elastase test most often which is done from a poop sample you collect from a diaper so non invasive.

You can periodically check CFTR2 which is a database run by Johns Hopkins with information on CF mutations and their outcomes.

I would want to see a CF accredited pulmonologist not just a pulmonologist at a hospital that is CFF accredited. Ask the nurse at the pulmonologist's office what percent of the doctors patients have CF. For the most part don't go to a satellite office for the hospital.

The people you should see at some point for CF care are pulmonologist, nurse, social worker, nutritionist if weigh is a concern, and respiratory or physical therapist if chest physical therapy is started.

You came the right place. I credit many people on this forum for saving my daughter's life. I do not credit any doctor for this.

I wanted to say hi and introduce myself as my 3 month old son may have cf. He has had two sweat tests that both came back borderline (40, 42) and then he had blood work drawn. He was found to have 2 mutations, df508 and pro5leu (p5l?). The doctor, however, was not sure if the second mutation is disease causing so she didnt want to classify him as having cf. He is currently diagnosed as having crms and we have to go back in a couple months for another sweat test. He is growing fine and doesnt seem to have any problems besides a slight cough here and there which im told is normal for babies. My biggest concern is that if he does actually have it, he may not be treated aggressively enough with having the crms diagnosis.

 

[silvermonkee]

Thank you for the replies. He is being seen at a cf center and we had the fecal test which came back good. I checked the database for the mutations and there was only one on record. Thanks for the tip about the pulmonologist, I'll have to ask when I go back in a couple months. Does anyone know what is done during annual visits with crms?

 

[Ratatosk]

Reiterating what everyone else is saying here. It's important that he start chest physiotherapy (or vest) to keep his lungs happy and healthy. That your clinic is proactive instead of treating symptoms as they occur (reactive). As for the cough, it is post nasal drip, reflux, a nervous habit....? I do cringe when a doctor indicates coughs are normal, because years a go a CF specialist told me my then 2-3 month old's cough was normal "they cough, it's what they do". Being a new mom I didn't listen to my gut -- despite having a productive, chesty cough -- and took the advice of the doctor. Turns out DS had bronchitis and ended up on antibiotics for several weeks. There may be a lot of overwhelming information, things to learn --- medications, cpt, appointments.... Just take it once step at a time, one day at a time and pretty soon you'll get into a routine. DS is 10, goes to school, is active in sports.... He does his treatments, takes his meds... pretty much leads a normal life except has to do a few extra things to keep him happy and healthy....

 

[pootersmom14]

My daughter was first diagnosed with CRMS. She is pancreatic insufficient and is treated just like any other CF patient. She has breathing treatments, vest therapy. She is so much healthier now that we found a good CF accredited clinic. It was a fight to find the right people, but it was so worth every minute of it. She is happy, active, and full of life.

 

[Beccamom]

On the website www.CFF.org it has a section on CRMS and what treatments, testing, and frequency of CF clinic visits the CFF recommends with that diagnosis. As an adult diagnosed with CF as an adult I have to admit to mixed feelings about preventative treatment with that diagnosis.

I feel soooooo much better with proper treatment now. For that reason I wish I was treated years ago. However, I have had many life experiences I would not have had if diagnosed as a child such as going in the military, scuba diving etc.

As a mom I have the opposite view in that preventative treatments is extremely important. My daughter is in diagnostic limbo like your baby. She has one known disease causing CF gene. Her lung function FEV1 hit a low of 50% before I knew to look for a new pulmonogist and at age 11 she was finally treated with CF chest vest IV antibiotics and hypertonic saline Neb. God willing her lung function after a year is up to 100 then holding in the 90s. She was very sick missed most of sixth grade before treatment.

Sorry for the mixed message, but I do see both the preventative treatment and wait for symptoms views of different doctors. You as mom need to follow your gut. See more then one CF center hear the pros and con's and then decide what is right for your child.