Grandson diagnosed with CF through Newborn Screening

[mom25kids]

Hello,
I'm so glad I found this site as my daughter and myself are so worried over my 4 week old grandson. My daughter is 16 and I am 43....we both were pregnant and delivered our babies on the same day.....May 8th. We have already been through so much with my daughter getting pregnant at a young age.....and my husband and I just had our 5th child.....so our house is completely full and busy.
My daughter went to her scheduled 2nd newborn screening.....the first one came out normal. However, this second screening showed 2 mutations. We had already been noticing things....for example, he eats like crazy, but looks like a little spider with practically no fat on him at all. He also has a large bulging belly when he eats. We received a call from the pediatrian about the 2nd screening and then a CF care center called us to set up the sweat test....we go Tuesday morning and will get a result that afternoon.
We are praying for a good outcome...but to be honest he has all the symptoms except the coughing. He has salty skin, low weight, huge appetite, large stools....often going through diaper and clothes several times a day. I don't always hear the wheezing, but I do hear it while sucking on bottle.
I guess I'm here to find out what to expect....we are so worried. My daughter looked up information on internet and immediately began crying uncontrollably....I'm trying to keep her focused and in prayer. I don't know how we are going to handle this. She is only 16 and I'm worried about her getting through high school.....and now handling a difficult situation with a newborn. Any help will be appreciated.
Oh by the way.....some people that we have shared with have told my daugher everything from he won't live past 8 and CF is a death sentence. These are the positive responses that we have received from friends.

 

[patpatstoo]

My daughter has CF. She was diagnosed at birth and had surgery at 2 dys for a bowel blockage. She was 6 weeks early and weigh 4lbs 11oz. She had a feeding tube from3 months to 5 years. She went to daycare when she was 2y/o. She goes in the hospital every summer for 10 days for a tune-up. She has never had pneumonia because we have always been ahead of the game. She is now 17y/o. Is a straight A student, dual enrolled at the community college. She rides and jumps horses. She plans on going to college to be a vet. DO NOT let anyone tell you CF is a death sentence. We are very serious about her meds and breathing treatments and stay on top of things. I not saying it has been a walk in the park but with 5 kids I'm sure that you know that. The most important thing is to be compliant and keep up with all of the meds. Then let him be a child!

 

[Aboveallislove]

Dear Mom and Grandmom,

I am so sorry for your pain and worry. We all KNOW what you and her are feeling. As Patpatstoo said, though CF is NOT a death sentence. It is serious and requires alot of care and it is not the "normal" life we all think of when we are planning our trip to Paris--but it is a wonderful life your grandchild has. But it is also normal for your daughter to be crying hysterically now--I still do . . . often--but the joy of our son's life and the hope is always there.

I thought I'd share a few "what to expect" because I wish someone had for me. First, what I wish someone had told me--and the first question I asked the person performing the test: If my son has two mutations is it even possible that he doesn't have CF: The doctor said it is very very unlikely. I wish someone had told me that before so that I could have been a little better prepared. Do you know what the mutations are? The reason I ask is because there is a medicine already approved that is a great treatment for one (and likely more) mutations and if you tell me the mutations I can help you figure that out.

So for the day:
1) They'll walk you through the sweat test and then they do it by placing some metal on your grandchild's body--it feels funny but doesn't hurt, but he may cry. Likely they'll take you back to an exam room then.
2) For us, unfortunately they sent in everyone before the doctor--so we didn't have the official word yet--when people came in. But if the test is positive, you will likely see: 1) The CF doctor; 2) a nurse who will do a throat culture; 3) a nutritionist; 4) a social worker; 5) a psychologist; 6) a therapist--not sure techincal name--to teach how to give chest compressions." If your grandchild doesn't have insurance, the social worker can help him get on good state insurance. You will be given several prescriptions which MOST pharamacies will not carry in stock--my poor husband drove around crazy that night trying to find them and came home empty handed for the most part. Do NOT panic--find a good pharmacy and have them get it to you by the next day. OR ask if the hospital pharamacy carries in stock. (Most chain pharmacies can get next day.) You will also get a nebulizer machine and a nebulizer cup and mask ASK THE NURSE FOR AT LEAST 3 CUPS & MASKS so that you have some spare for cleaning. As the therapist for a little handle held plastic device for the chest compressions--we didn't get for months and it is easier than doing on your hands. They might order a blood draw. I would ask if that can wait until the next appointment because it is very hard on everyone right after a positive diagnosis. For the first year, they will have you come back 1x a month. In the meantime, you will be giving enzymes in baby applesause before food, doing inhalled breathing treatments and chest percussions 2x a day, and giving vitamins.

I am so sorry for your pain dear mother and grandma and will say some prayers tonight for your family, your precious grandson and your precious daughter. May God held you tight and give you strength.

 

[mom25kids]

Thanks Patpat,
I needed to hear those words. I'm going to be very proactive, but my daughter needed to hear some hopeful words....I read her your post. All the gentic talk on here is very confusing...but I will just try to take it a day at a time.
The thing I most worry about with him....is he always seems to be starving....he wants to eat every 2 hours....and then poohs it all out and we start again. He does sleep through the night from about 12-6. He is just soooo tiny and skinny. At his last dr visit, he had gained 4 oz, but I'm anxious to see how much more he has gained if any? I guess we just have to wait till Tuesday for answers.
I appreciate your support to much.

 

[Aboveallislove]

Just a quick note re your concerns: The enzymes will take care of that problem--not perfectly, but the difference between night and day. Our son was 6% for weight at his first CF appointment and was 49% at our last appointment.

 

[Aboveallislove]

Oh, sorry, meant to also give you a quick CF gene summary because it is what is so hopeful. There are over 1000 mutations. Some mutations have the "protein" at the cell surface. The FDA just approved a medicine called Kalydeco which helps the people with one mutation where the protein is at the cell surface--there are tons of great stories of little ones (2,3,4) whose started the meds and who have had no lung damage yet and they think with these meds they won't! Other mutations are more complex--our son has 2 copies of the d508f which is the most complex--the protein doesn't fold properly and doesn't get to the cell surface, BUT the company which invented Kalydeco has 2 more meds that look very promising to "fix" that part. None of this is an absolute cure, but it is fixing the underlying gene problem. Our son will be 3 this month and we are hopeful they will have these meds ready before he is 6 and in plenty of time to keep him healthy for a long long happy life.

 

[mom25kids]

aboveallislove
Thanks for you informative post....very helpful and we plan to print and take with us to doctor. I'm not sure of gene....only that the nurse said the test showed two. We are supposed to go pick up the actual test report tomorrow. We are in Fort Worth, Texas....there is a care center at the cooks children's hospital. I feel we are in a great place in terms of care.
Thanks for your encouraging words

 

[mom25kids]

I was just reading the posts to my daughter and she started to cry....stating, "I don't like that word hopeful."
I asked her, "would you rather unhopeful?"
She said, "I don't want to hope; I just want to know he is ok."

I'm trying to cope myself and teach her to cope as well.....it's hard watching your daughter go through something such as this....especially when she can barely take care of herself. She said she doesn't want to worry her whole life about whether he will make it till 30 or even just the next year. I told her none of us are guaranteed tomorrow, so she only need worry about today. I am hopeful.....and I'm praying for her to be also.

 

[mom25kids]

How do they determine whether there is protein at the cell base? Is all that done through blood testing?

 

[AleksandraKaczynska]

I can't answere your last quetsion - no such test done here so far but my daughter is 4,5 just.
However she is pancreatic sufficient and once in while she has an elastaze test done - from poop - to see the level of her enzymes - if their are right - she does not get creon - enzymes to help digest.
The rest - in such a little baby - is usually x-rays of lungs, blood tests for witamins and other, throat swab and tommy and heart usg. Later on it may change according to need and new methods - as the way of taking care of cf patients changes all the time and I have seen a huge change since we started - and it's not so long ago.
And one more thing - your grandson will grow and be o.k. for many years to come - it depends on how well you do your treatments and many other - but you are lucky to be picked up by screaning - not by health issues.
He is in good hands and so are you and once you get over the shock of diagnosis - if at all your grandson has cf - you'll find that there is a happy wonderfull little boy growing up and brining you so much joy

 

[Aboveallislove]

Re the protein location--the mutation tells the doctors that. There are different classes of mutations based on the what is wrong with the CFTR gene. When you learn the mutation #s today, if you can post I'll see if I can point you to that information.

Re your daughter's comments: What she feels is true and natural and what many mom's feel. I feel that way, but I am hopeful not just for a cure but hopeful that there will be a day when our worries are the "normal" worries parents have for their children. I remember right after our son's diagnosis another CF mom told me she didn't think life would ever be good again and that it was like that for 2 years for her. In a way that helped me because I never felt like that--I was just feeling like your daughter. And even then, that CF mom 2 years later was so much stronger and happier than I thought I could ever be, even though that's how she felt at the time.

I know how hard this is for you--you are seeing your "baby" suffer as she worries about her baby suffering. Hold her, listen, and know it is all "normal" and that it will get easier. The heartache is always there--but the love overwhelms. This essay captures some of the emotions (and is pretty well known for parents with Special Needs--a friend with a son with Down's had shared it): http://www.our-kids.org/Archives/Holland.html

Please know of my continued prayers for you and your family and please post re the mutations if you are comfortable and I'll try to give you that information. Also, if it would help, there is a facebook page called Praying for success for vx770/809 which has wonderful stories of what the medicines are doing to "cure" CF--not a "cure" but again fixing the underlying problem and for very young children acting pretty much like a "cure". (VX770/809 are the medicines--770 is now Kalydeco which fixes the 551 mutation and 809 is the drug which when combined with 770 will help those with d508f mutations.) You/she might want to ask to join--there folks there are wonderful!!!

 

[Printer]

Momto 25kids:

I have CF, I'm 72 years of age, we will celebrate our 50th Wedding Anniversary in September.

Tell that to your "know nothing friends".

Bill

 

[Ratatosk]

Our son was diagnosed shortly after he was born due to a bowel obstruction. Underwent surgery at one day -- got a crash course in enzymes, nebs and chest physiotherapy. Took it day by day -- got into a routine. Today DS is a busy 9 year old -- goes to school, active in sports... We're proactive, but he leads a fairly normal life -- just extra things we have to do to keep him happy and healthy.

I still remember our local CF doctor putting me in contact with some parents of teens and college aged kids and instead of being helpful -- they scared the absolute HECK out of me with how horrible the first two years were, struggles continuing thru school. Not something a new parent, let alone a new parent of a child wcf needs or wants to hear. <img src="i/expressions/face-icon-small-smile.gif" border="0"> Fortunately, DS did FINE that first year. Was probably the healthiest kid at his daycare/preschool.

 

[jholmberg]

Sorry to hear about your situation. Everyone with CF has a different experience. I was diagnosised at 2. I am now 36. I am a lawyerand work full time. The treatments for CF are always improving.

 

[suziesmom]

My daughter was 11 years old before she was diagnosed. I would take her in on a weekly basis and tell the doctor something was not right with her. He would tell me that she had allergies and to give her Robitussin D. One day, I insisted she see an allergist. They sent me to Childrens Hospital to see one. He said they were testing her for CF, but not to worry because they only did that to rule it out, but that he could tell "just by looking" at her that she did not have it. Lo and behold she tested positive for CF. We were devastated. When I was in Jr. High School, one of my classmates died at 14 yrs old with CF. That is all I could think of.
Dr. told us if there was anywhere we wanted to go, anything we wanted to do...... DO IT NOW. Do not put it off until tomorrow. Gee. What would you call that? A death sentence. We did a lot of things with her, took her places....... I slept with her each night and listened to her breathing........ and guess what?
She is now 22 yrs old and doing well. She has bipolar disorder which, for her, is far more devastating than CF.

Also, I don't remember if I saw this info on this website or another........... but there was a lady who was diagnosed with CF at age FIFTY-SIX.

My advice to you? Read everything you possibly can, but remember nothing is set in stone. Your situation will be different than anyone elses, at least that is what I have found. ASK QUESTIONS. Keep your grandson away from smokers. Always keep a mask in your house and car, in case there is a fire or you happen to be driving near a pulp mill or ???? Also keep a flutter nearby and albuterol or whatever Dr. prescribes. Make certain your grandson does treatments religiously. Be a bit cleaner and more careful when around germs, etc. and do not let anyone who is sick around him. Yes, there is a lot to learn. Yes, it is very scary. I couldn't stop crying for years, and still do sometimes. BUT, you and your family will get a schedule down - you will get to the point where you know what pills he takes and at what time and which treatments he needs to do. It will become second nature......like brushing your teeth or watering your plants. Life will go on and he will grow up. And the treatments for CF are coming fast! New, improved, wonderful treatments, medications, etc.

WE HAVE ONE LIFE. LIVE IT TO THE FULLEST.
It seems

 

[Shelly43]

I'm sorry for her fear, but understand it perfectly. My son was dx at 3 1/2 and one of the social workers at the CF clinic was so negative she scared me senseless (she was fired later for doing that to several parents)... I greived for the first two years ( part of the natural process (I was told later), thinking every day was the last....then I started learning more and more. Getting more used to the process.. being given an emergancy plan from the CF center helped then I at least knew what to do... The nurses and the staff at the clinic are your best sources of info, but double check whenever possible......Don't panic it's not so bad, really.... every new situation hits me hard, but the next time it's not so bad.....I dreaded the first hospital visit so much, but learned so much from the respitory therapist and nurses it ended up being very educational for both me and my son..I fought a feeding tube tooth and nail and then read later how helpful it was in getting the CF kids to gain weight even when ill? I wish I had let them do it.....
My best advise is get all the info you can... but don't scare yourself, I watched a double lung transplant on a Canadian CF site and cried for weeks......
Most of the time no one would guess my son is even ill... He is small for his size at age 13 which he finds hard, but beyond when he is coming down with some thing? He is out there running and playing with the rest of the neighborhood kids...I do daycare and he is used to explaining to anyone and everyone what he has and how it effects him..... He shugs it off for the most part..
Consistanacy in treatments andremembering you are your childs strongest advocate is the best advice I can give you and take notes at your clinic visits, lol ... the new drugs coming offer so much hope, please don't be too depressed.... these sites are full of help, just ask....
God Bless Shelly

 

[elaneyday]

My son was diagnosed shortly after birth and also had bowel obstruction surgery on day 2 of life and sinus surgery when he was 7. My heart breaks to know what you and your daughter will be going through, if the diagnosis is positive. My son also has two copies of the Delta F508 mutations. Despite the bumpy road, please tell your daughter that life for a child with CF is better than it ever was and is continuing to improve! Her child has ever chance of living beyond retirement age. The CF Foundation is very aggressive with research and you should get in contact with your local chapter at www.cff.org. They are very positive and encouranging. The most important advice I could give you both is to be proactive with the treatments. Do not wait for symptoms, stay ahead of the game. My son is almost 9 and we are aggressive with treaments; which means we almost never skip them and when he begins to cough a couple of days in a row, we get him into the clinic and request they do a throat culture to see if we need to treat bacterial infections. He's been very lucky not to have a chronic cough so if he coughs at all we are on it. We also increase the amount of treatments when he's sick. His lungs are almost (aside from one small area) like that of a "normal" child...that's a statement from his doctor. He's been on enzymes since birth (nightmare trying to figure out how much to give an infant) but his weight is in the 98th percentile and so is his height. It's going to be work for a 16 year old but if she gets into a daily routine, it will not be that bad after a while. Don't let her get lazy with treatments!!!! If you could see my son, the doctor's think he could be the poster child for CF. Like many others, my son has been in the hospital a few times and that is the part that is most difficult but it doesn't mean a hospital stay is the end of anything. We kept both of our kids away from anybody that was sick and we don't let anybody into our home without going to wash their hands first. I always carry hand wipes and still take them to restaurants and clean the tables before we sit down. For me, it was a really depressing time having my first child and getting this horrible diagnosis and feeling punished and jipped out of the newborn experience. Now I see how lucky was I was to be told shortly after birth. You have the advantage many others kids don't, early diagnosis, earlier prevenative treatments. One last thing. When I was in the NICU with my infant son, I met a young couple with a 2 year old doing breathing treatments for their son in their hospital room. I couldn't even watch as I cried my eyes out and pictured the worst with my own baby. How could we live like that? Now my son is in every sport, doing fantastic. Doing treatments before school and in the evening. Taking enzymes and wipes everywhere but LIVING a great life. I can e-mail you pictures if you would like to share with your daughter. I really want her to see the other side of this disease and all the great promise we have now. Also, we use the CF Foundation's pharmacy because they offer some free manufacture programs and the proceeds go back to CF. You won't have a problem getting the right CF meds. www.cfservicespharmacy.org
Margaret - elaneyday@sbcglobal.net

 

[mom25kids]

Wow,

Thanks so much for all of these wonderful stories. My dauther and I have both been so uplifted. We are researching all we can and I am taking her along with me. We had a talk tonight about being proactive when making others use hand sanitizer and making sure others are not sick, etc. I told her that she can't worry about hurting feelings....especially while he is a baby....everyone just wants to hold him, even complete strangers.

It's going to be hard...I have 4 very active boys....and they are always germy...LOL I have been talking with them as well about washing before holding Jaidan.

I still don't know the mutation, but we go to doctor tomorrow.........I'm very anxious, but prayerful.

I appreciate all the comments....I'm so glad I found this site.

 

[albino15]

I was diagnosed at around two months old because I was having a hard time gaining weight. My parents told me it was like I was starving all the time. Apparently enzymes made all the difference for me and I haven't had issues with weight since then and I have yet to have any serious lung problems. I will be 21 on July 31.

 

[LittleLab4CF]

Congratulations to you both. Two wonderful lives have graced your world. At birth, we discover the health issues that need attention. You didn't mention any other problems. Can they hear, do they have functional eyes, is there any paralysis in their bodies, minor or massive cleft faces? I assume they both fix their gaze on you. You didn't complain about any gross malformations. They suckle, laugh, sleep, cry, pee and poop. There is so much that is right, healthy and wonderful. So what is the problem?

Ok the problem is your lovely young daughter, responsible for the next 18 years should be alternately learning coping lessons that have been complicated. And an adolescence she needs and should be worried by much less than learning her baby, with or without CF is going to take over her life. I recommend accessing two recent forms for a different perspective. This site recently discussed "CF or not CF. This discusses the vagaries and varieties of CF that you never hear of except in a group like this. The other forum asked "what music do you like for your CF fight". I don't think I got either title exact, but should be close.

Something I did for my niece's child is have his umbilical cord harvested and saved for the potential day he may need a source of perfect, undifferentiated STEM CELLS to treat and possibly cure genetic diseases. All parents to be should know of this option and decide it is appropriate.

As for your baby's life, so much is unwritten. I have said this before but I have lived more than any five people could wish for. My life described as fun is a pale descriptive. I hold several doctorates, my first patented invention was awarded, and classified for National Security reasons at 14yrs old. I earned my doctorate in genetics at 18. Studied and became a luthier, started several companies including one that left me beyond broke and broken. My last company I took Public which proved success can be harder than failure. I was a close second in many sports from fencing, technical rock climbing were routes from Yosemite to Devil's Tower have my handle, mountaineering througout Wyoming and Colorado to anywhere in the Alps to Africa. I even did the North Face of the Eiger in Spring. I have spent 11 years traveling outside the U.S.. Some travel was just hitch hiking through Europe and Africa some business travel allowed a cultural perspective that no museum trip could touch. My energy has for most my life has been boundless. Make no mistake, I have suffered and been ravaged by CF. Consider this, your baby will grow up never knowing life without CF. In fact a successful medication already works on one common CFTR (Cystic Fibrosis Transmembrane Regulator) gene mutation and the floodgates are opening. There is no predicting if or when a magic bullet will relieve the symptoms presented by the mutations. I have done lab level CF research for fifteen years. I am 62 and just undertook a major remodleing project in our house. Diagnosed at 50 years of age, half a dozen doctors treated each of my individual complaints. My life expectancy has exceeded the most optimistic prognostications.

Please accept this diatribe in its intent. If it sounded like I was bragging, it was not my intent. I wanted to illustrate my long CF life. Chronic disease sucks bigtime but life is not yours to lament. Natalie Merchant's "Wonder" kind of tells it all. Children come through you, not from you. Finish your grief soon and get with on with raising your baby. Try to not hurt for your damned near perfect baby. I am the last person who would molify you with tales of, "your lucky" or it could be worse". It is unknown at this time how the CF mutations may present themselves and for that matter you cannot change it. I do know it is not anybodies fault. Who is to say what adversity is going to affect a near perfect baby. Love does conquer all.