2 Year old daughter recently diagnosed with CF

[kapsy]

Hi, I am Kapil from New Delhi, India and my 2 year old daughter has been disagnosed recently with CF. She is my only child and i am very much concerned about his health as in India, CF is a very very rare disease.

I was looking around on internet about the information related to CF, when i came across this Forum. I found it realy helpful and looking forward to interact with member here so that i can help my daughter fight CF. Let me share some history of my daughter health here.

At the time of birth, she was a perfect child with birth weight around 6.8 lbs. At the age of 2 months, she had 2 episodes of severe dehydration and 1 of pneumonia without any visible symptoms like vomiting or diarrhea. After treatment she recovered well and for the next 18 months, she never had any health issues, not even vomiting, loosemotion/constipation or fever. She was growing normally without any enzymes, external vitamins or any medicine. She achived all her milestones and always used to maintain a good weight as per her age.

This year(2012), in January, problem started with a mild cough with increased breathing rate. We consulted my paediatricians, who keep treating it sometime as allergy or asthama. In April, after seeing the symptoms, one of a doctor suspected it as CF and reffered her to a renowned hospital in delhi. There she was diagnosed with severe lung infection (pseudomonas aeruginosa and fungal infection). Her first sweat chrolide was 72 and her stool has fat globules. Seeing various test results, doctors confirmed it as CF. There she got dischared after 15 days and is now doing perfectly fine. She is currently on Creon, saline, Tobramycin, levolintreatment along with multi vitamins.

This came as a shock to us as we had absolute zero knowledge about CF that time. Also as i stated earlier, CF is a very rare disease in India with no proper treatment facility available. I am banking aloton help from members here so that i can help my daughter fight with CF.

 

[AleksandraKaczynska]

hi Kapil
glad you opened up and you'll find alot of help here and support as well as knowledge
It's wonderful that your doctor thought about cf and now that you have the diagnosis - you'll get the right kind of care and medicines for your little girl
i think you should also try to get genetic testing for cf. It will give your doctors a better picture and - I hope like all parents of cf kids - drugs which are dependend on the gene mutation
My daughter's cf was a shock to us also - as there where no cases in our families .
There are manypeople here from all over the world. We are from Europe - Poland.

 

[Aboveallislove]

Dear Kapil,

I agree with Aleksandra--you should try to get gene testing because there is currently one medicine that helps a specific gene mutation (let me know if you want more details on what gene/gene mutations mean), and there are several more coming. Also, I am amazed your doctors were able to diagnose her so quickly, especially given how rare CF is in India, so while you might not have the CF Centers elsewhere you have some good doctors. Her treatment regime seems pretty similar. I would suggest you also see if you can have her started on Pulmozyme. Also, are you doing any air way clearance, such as compressions or using a vest? You should be doing those 2x a day.

Sending you hugs and prayers as this time is so hard with the shock, uncertainty, fear, but there is much hope. Please let us know what else would be helpful for you to know. Hugs.

 

[kapsy]

Thanks Aleksandra and 'Aboveallislove' for quick reply and support.

She is under treatment of Doctor, who is a very senior pediatric Pulmologist of New Delhi.

Yes, Doctors here has conducted her DNA testing for Delta F (I don't know what it actually means and is it enough to know the gene mutation) but the reports are pending. May be i will get them tomorrow.

No, doctor have not suggested any Pulmozyme or air way clearance yet..Like i mentioned she is on hypertonic(3%) saline, Levoline therapy twice a day..

I am confused about one thing and even after browsing different forums i didn't got the answer. If someone has CF, does it mean he/she have it from birth and the problems/Symptoms related to CF starts from day 1?? I have seen people here on this forum who were diagnosed in their 20s, even in 40s. That means till then they had no issues related to CF?? Is it a problem which worsen depending upon some factors? Does CF also have mild, medium or high levels?

In my daughter's case, she never have growth problem. 'Failure to thrive' some what fails in my daughter case. At the age of 2.2 years, she is 87.5 cm in height and weigh around 25 lbs and is a very active child. Until January 2012 she never had rapid breathing problem/cough or constipation.

I know i am asking a lot of questions but that only to understand CF as a novice...

Any response would be highly appreciated.

 

[Julie7]

Kapsy,
I am sorry your son has been sick but I'm glad you found this forum. I can tell you I am so happy to have found people to talk to, you can read about my situation with my son on the same page you posted. While my 8 year old son does not have a formal diagnosis of CF (yet), his health problems just started last year, digestive.
We are going to Boston Childrens hospital in two weeks to see their doctors at the Cystic Fibrosis center.
There are some people with CF who present symptoms at birth and some who present with symptoms later or much later.
There also many types of sequencing for CF so when you do get the results, ask questions in terms of what kind of test was performed.
Welcome and nice to meet you.

 

[AleksandraKaczynska]

Kapil cf is inheretided from parents in genes - so it's there from the first days but before birth - and... its working - doing harm all the time. Both parents are cariers. a gene consists of two part - one from mom - one from dad. If you get two copies of muatations responsible for cf in one gene - then you are sick - if you get just one mutation - you are healthy. So the ods are that your child has 2 to 4 to be carier, 1 to 4 to be healthy - no carier - and 1 to 4 tha it will be sick. In europe - 1 in every 20 people are cariers - but - still two cariers may have healthy kid and never hear about cf unless someone in their family gets a diagnosis - like us - an then the whole family can get genetic testing to see if they are cariers also. But people who where born like 6 - 10 years ago - get diagnosed by symptoms - since teher where no screning tsts for cf in babies then. And it all denepends on the how much good a doctore they meat along their way . So kids get sick and no one knows why. So - gratulations to your doctor - realy. I have meat pedatrians here - where cf is supposed to be known - who know little or nothing about cf. However - like you think - cf has many faces - as many as there are sick people - so it may present itself at birth or later on in life. In Poland - like in U.s. - children - in their 3 day after birth have a screaning test done - also for cf - so thus so many little kids get diagnosed - without any symptoms - like us . But this doesn't meant its not there - it's just doing harm a bit slower thanks to the right care. That is why the right care is needed always - even if there are no symptoms - usually inhaltions, vitamins and cpt - for little kids mostly - and enzymes - for most - but in our case not- my daughetr doesn't need them. However - this may change and we need to monitor her. We do tests for elastaze and watch her weight gain carefuly, do test for viatmin levels and much more. usualy at leats once a year or more often: lung x-rays, blood test, elastze test form poop, tommy usg and moniter her heart also. more test will come with age - as they need the child to participate. At this stage you must try to get the pseudomonas aeruginosa and fungal infection ( i hope they come from the envirment - not from other sick - as this bacteria and fungals can be eridicated - if they come from other sick - they usually can't) out of her lungs - as this will make the making of damage in her lungs faster - that i s why she is on antibiotics and will be for some time - propobly with little breaks. she need to be on a high calori diet, do all the teratments assigned by doc, keep her healthy - out of reach of sick people, wash hands often and make sure she doesn't eat dirt while playing. You must also consider not sending her to kindergared but running around and much moving is very good - even itf it will make her caugh - in cf that is good a- as it is a natural way of getting thick muscus out of her lungs.Good luck and ask all you want

 

[JustDucky]

One thing is certain, CF doesn't present the same in every case...there are over 1600 known mutations for CF, even for people with the same mutations, their disease course could be radically different from each other. I am an adult diagnosis, dx'd at 33. I didn't have the obvious CF symptoms as a child, just "asthma" and as I got older, more and more infections that doctors thought were related to asthma until they did cultures and found typical CF bugs (B cepacia, PA,...) and took a closer look at my history.
I too commend your doctor on diagnosing her so quickly considering how rare CF is in your country. It took several doctors in my case until a very smart general physician put the pieces together and got the ball rolling.
It sounds like you are doing the right things for your girl...I know this has to be overwhelming and a shock to you, but it will get better. At first, there is just so much to absorb....treatments, what to do with illnesses, meds, etc....
Also, like others have said, chest physiotherapy would be beneficial....even if you do it yourself. I use the VEST by HIllrom, it is very expensive out of pocket, but my insurance picked it up. It basically shakes me at different frequencies to move my secretions..

Good luck, this is a wonderful forum. I have been part of it since 2005 and the information I have gained from the members has been invaluable.

Hugs from across the globe,
Jenn 40 wCF

 

[LittleLab4CF]

Welcome Kapsy. Others have skillfully given you the short course on CF. As already discovered, you are far from alone. India is advanced in medicine dating to antiquity western medicine owes Indian practitioners, surgeons and chemists a debt that can never be repaid. Cystic Fibrosis in India is probably not the first thing a doctor would consider. Never lose your sweat test or genetic testing because somebody is sure to be challenged. It happens all the time in the U.S. where CF carrier populations have 1 in 25 probabilities.

Why are older people diagnosed with CF? Like India, even a town of 50,000 easily could not have a doctor who will catch CF in a patient. I was born in 1950. In retrospect I find it incomprehensible it took 50+ years to be accurately diagnosed. A sweat test existed in 1950 as did pancreatic function tests. My father was sick, most likely suffered and died in his 40's. His autopsy showed an atrophied pancreas amongst other red flags that our doctor should have associated with me having all the same symptoms as my father. In 1950 a newborn with CF had a life measured in days. Not immediately dying was my first error. But so many older CF patients have milder mutations. To be accurate the presentation of my mutation, in me, were easier on the lungs. I have had roughly 90 cases of pneumonia. I never smoked (anything), was physically active etc but when an ear drum burst, or I couldn't gain enough weight to be at least skinny, no notice. I thought everybody hacked up green phlegm and routine sinus treatments was routine.

Doctors knew very little about CF except the irritating habit of patients dying on them. I look with envy when I see CFers diagnosed at birth or two years for that matter. I now live with the fruits of misdiagnosis. If you can do nothing more, attend to her vitamin and mineral deficiencies. I now have awful osteoporosis, rotten teeth, hearing loss and my testosterone has been delivered in a large needle every two weeks for years. I have been pancreatic insufficient for my entire life, near as I can tell. I am truly lucky. I pray everyone on this forum can whine and complain at 62. Best of luck and don't let your daughter use CF as a crutch. Many of us old timers are here purely by force of personality.

 

[kapsy]

Thanks everyone for such a caring reply <img src="i/expressions/face-icon-small-smile.gif" border="0">
This forum is one place where i get some hope for my little child.
Her genetic test shown her postive forΔF508 and homozygous.(I dont know wht it means )
One more problem with CF in india is that in India, Insurance companies don't cover genetic disease and this is a very big problem. Also the govt. medical suport system is also not very good and mostly people prefer private hospitals instead of Govt. hospitals.
I have to fight CF not only physically, mentally but also financially but i love my little child so much that i am sure that i can go to any level to make her live long and strong.

 

[AleksandraKaczynska]

Kapil
Your daughter has two copies of the same mutation - the mutation that is most common. You will find alot of information about this on the forum and in the internet.

As far as public helth care - we have a huge problem with this in Poland - where the national health fund - obligatory - covers some expenses - but very little I' m afraid - one inhalator per 5 years and one nebulizer per year - the rest - salt and vitamins like aquAdeks - the most recommended - and other drugs are only patrly covered or not at all.
So I understand your fight.
Private insurances do not cover genetic disease also and moreover - the only cf centers we have are in public hospitals - so there are shortages there too with very bad conditions - however the doc and staff try their hardest.
To help ourselves we are part of two funds for families and isck with cf, fundraise money for our kids from 1% of years taxes - you can donate 1% to any fund and person being part of that fund, and also use help from other funds for vests and other equipment. however to be able to get money this way and also some refunding from the national health fund and national disability fund - Asia needed a disability adjudication.
Maybe you're not alone.
I'm part of one fund that has members abroad - so maybe you can find someone to help you near you?

 

[LittleLab4CF]

The best I can suggest to work around insurance is keep those documents establishing your baby. Keep them for a more enlightened time for yourself but also keep it from your doctors. Go see a GI doc for her GI problems, ENT for all the ear, sinus and throat infections. In dealing with CF's effects on her lungs, I am not an authority. My CF doc is a Pulmonologist and with symptoms much milder than Delta F508. Maybe someone with severe pulmonary issues can best answer a work around. Isn't Kaleydeco (sp) specific to treat Delta F508? If so, possibly a personal appeal to the makers of this drug could yield results. Early reports are elimination of CF symptoms. In short, the same problems exist that are symptomatic of CF. Treat the symptoms and keep the diagnosis quiet. My diagnosis at 50 changed my treatment very little. If you lean political, the State of Colorado beat the insurance compaies by outlawing discrimination due to genetic disease. Wait til they find addiction, or whatever shows up in a genetic test!

 

[AleksandraKaczynska]

Kalydeco is mostly for G551D mutation. It is not effective in CF patients with two copies of the F508del mutation (F508del/F508del) in the CF gene. however I would also keep all her results - copies of x-rays - pictures - medical reports and a notebook with all she took and her health issues and dates - written down , how she is gaining weight and height also- all written down - just in case you have to change clinics or go somewhere else.. this is what we are told to do in a very unstable healthcare system and it prooves a good idea - for those where a hospital with a cf center was just shut down it was a saver - their documents eventually showed up in the new cf clinic for their area - however it took time in which some kids got sick and needed that infoif you have more questions ask

 

[Caro46]

Hi Kapil,
I haven't read all the responses above, so hopefully I'm not repeating what anyone else has said!
I come from South Africa. We have clinics here, but there are certain 'norms' that are different to in America, simply due to the availability of certain things.
Physiotherapy vests are the norm in America, but not in South Africa. We do percussive physiotherapy with Anna twice daily, for 15 minutes at a time. When she is sick we add in an extra session per day. Not sure if you have spoken to your doctor about this? It helps to loosen the mucous in the chest.
The point is, that you do not need the vest to successfully do this treatment - you can do it as successfully with your hands, it's just a little more time-consuming! This has been confirmed by our physiotherapist and doctors, as well as a doctor at a CF clinic we went to in Holland on a visit.
Just one less thing to worry about, but thought I'd put it out there! <img src="i/expressions/face-icon-small-smile.gif" border="0">
Good luck... time will make CF less intimidating - I remember how scared and in shock I was post Anna's diagnosis, but things become easier as you become more familiar.
Caro

 

[AleksandraKaczynska]

Caro46 - you are right about the vest - which is very expensive and not covered by insurance here - we are also told that doing hand cpt is just as good as the vest and its better to spend the money on a good inhaler and meds - then loan for the vest - there is a cheeper version of a vest in EU - VibraVest - but still expensive and the smallest size is for kids above 120 cm - but just as good or maybe even better <img src="i/expressions/face-icon-small-happy.gif" border="0">
However its still expensive and we are thinking of this for the future so Asia will get a feeling of more indepence - but this is a "need" of age - the efficiency of hand cpt and vest is the same and for little kids it makes no difference

see;
http://medycznydladzieci.otwarte24.pl/61,Vibra-Vest-Nowa-mobilna-kamizelka-oscylacyjna-wysokich-czestotliwosci-HFCWO
http://www.youtube.com/user/medycznydladzieci?feature=mhee#p/f/3/pYOEEvJWxwI
http://www.oxycare.eu/out/media/VibraVest_engl_web.pdf

 

[kapsy]

It is so heartening to see you people are so supportive and caring on this forum.

We are also opting for CPT and doctor has advised to purchase a chest vibrator, which is a hand held device used for chest therapy.

Had any one tried for alternate medicines like Homeopathy or Ayurveda for CF? India has some very good ayurvedic doctors and health center and i am looking forward to meet one in coming days. Just to consult and look for his opinion.

Also i read that Turmeric helps in the cure of CF. Indian food uses a lot of turmeric and other spices. May be that one of the reason why India have less number of CF cases. How ever CF foundation does not recommend the use of curcumin(Found in Turmeric) as a therapy for cystic fibrosis until safety studies are complete.

By any chance any one of you have gone through links i am posting below. May be this is a ray of hope for all of us. My daughter has a long life ahead and every day i pray to god that some day science may discover some medicine to cure this disease.

http://www.dnaindia.com/scitech/report_new-drug-to-treat-cystic-fibrosis-patients_1557488

http://www.indianexpress.com/news/coming-soon-a-treatment-for-cystic-fibrosis/933785/1

 

[LittleLab4CF]

Thanks to Aleksandra for setting the record straight concerning Kalydeco. When I first ran accross it, I was reviewing the research and Kaly just had a number. Memory is not my strong suit and I will never feel bad being corrected. Western medicine has been shooting blanks at CF. The drugs in trial in genetic formulation, some public, a lot early in the pipeline someday will deliver. Seeing a wholistic practitioner need to be watched for sophistry. This goes for anybody claiming to be able treat CF.

 

[AleksandraKaczynska]

LittleLab4CF ... <img src="i/expressions/face-icon-small-happy.gif" border="0"> I just copied and pasted a sentance from kalydeco page. Maybe I should have gave a link istead....sorry for it being so .. cold...
http://www.kalydeco.com/

Kapil - this my own opinion - the modern medicine has no cure but I would never give up medicine and treatment from a doctor of modern medicine and go just for traditional> I would mix both to stay on the safe side.
I acctually do .
I give my Asia healthy food with curcumina, garlic,lots of veg and friuts in diffrenet forms - smoothies are good, I give her a product named Flavon with bioflavoinoids and make sure she has a healthy life style with some sports to it.anythink that will help her stay on the healthier side.
so far sline inhalations proved good - we do 7% now but when she was two she was on 3%.
We are told not use such equipment but our hands - fingers together in a form of a bowl and medium taps for two minutes on the back wile the child in lying donw - the lower part of her llung area, then two minutes for one side and two for the other - also ling down flat, then lying with head up on pillows - two minutes for front - 10 exhales with a huff sound - while we are pressing delicately her front with thimbs linking to each other and rest fingers on the sides while she is lying on pillows
then when she is sitting upright - slightly leaning forward the top back area - also two minutes and then again - while she is sitting straight infront of me leaning on my chest 10 more hufs with me pressing her chest slightly down -
I'll try to send you a link to a movie
but I would consult all this with a phiscoteraphist - every child is different
and this movie is the old way - we do a more modern way - lying flat - not head down - and for smalll kids its about light tapping - not so hard - it should not hurt!
I'm sure you can find better films on the internet
http://www.youtube.com/watch?v=OhYPk_NwPdE
http://ptwm.org.pl/pobierz.php?i=283&hash=86ab

 

[kapsy]

Aleksandra - Yes... Modern Medicine is the first choice for all of us. I was just asking to knw tht any one tried some other form of medicine for CF.

As for Kalydeco, i just hope that they could soon find a medicine for other mutations too. My daughter has F508( other copy i dnt know)

 

[AleksandraKaczynska]

she has two copies of the same muatation - as you wrote... homozygous
the two articles you gave link to are about <span>VX-770 working name for the drug - Kalydeco or ivacaftor - named for use on the marketand yes to your other question - you can read on this forum about other medicine's tested and used in cf
see Alternative Medicine
I read about girl here who gave up modern medicine and just went for herbs and biotherapy and she seems to be doing well
for little kids - parents - like me also - mainy go for healthy diet, eliminating food that make muscus thick and adding that which is known to eliminate bacteria and wiruses and so on, mainy using traditional medicie, manuka honey or just honey, garlic, curcumina and others and also sports - a trampoline is a great idea for little kids- anything that will eep then healthier longer
sorry if I was a bit hard in the previous reply - but sometimes I notice I make such mistakes due to diffrenece of language and i tent to translate from polish into English and make such misunderstandings - so please excuse me

 

[aleeahsyaya6436]

Hi, my granddaughter is 8 months old, she was diagnoised at 3 days. It was the weirdest thing. We brought her home and I was hold her and kissed her head and noticed her forehead tasted VERY salty. I checked it again later and found the same thing. I had my son call her doctor and they had them bring her right back in. They told us that this was one of the side effects of CF (there was extensive CF in mommy's background, but none that we can find in ours). The preliminary test was postive and confirmed at UH in Cleveland. The biggest issue we have had is getting weight on her. She if FINALLY ON the weight scale. The want her to have 5-6 bottles a day with the DuoCal added to it. She WANTS REAL food. Any suggestions?