Nineteen months ago. we were blessed with the birth of our first child. I had an uneventful pregnancy with no complications. After all ultrasounds showed a perfectly healthy baby, I was induced a week after my due date.

Upon completion of the newborn screening, my daughter was diagnosed with Congenital Adrenal Hyperplasia (CAH), a genetic defect of the adrenal glands. Our lives were turned upside down. We quickly learned the severity of the disease when we were transferred to the nearest Children’s Hospital about an hour away. We spent 5 (five) days in NICU and another few days on the regular pediatric floor before we were sent home with 3 (three) different RXs, careful instructions, and a whole lot of worry.

With CAH, my daughter does not produce the stress hormone cortisol which is necessary for life. Her body is also salt wasting. She takes hydrocortisone 3x a day and Florinef 1x a day. As an infant she required more meds and we also added salt into her diet, 3000mg sodium daily. She currently does not take extra salt as she gets it from table food now, but she continues to take medicine daily, and will for the rest of her life.

This disease affects so much, growth, fertility, weight, height, bone density. If she becomes ill her meds must be doubled or tripled. If she is vomiting and unable to keep her meds down, an injection of Solu-Cortef is required as well as a trip to the hospital. I’ve learned so much in a year and a half, but I wouldn’t trade her for anything.

 

Rebecca Drake

Vancleave, MS

 

 

15 thoughts on “Salt Wasting and Congenital Adrenal Hyperplasia”

  1. Hi there! Thank you for sharing your story. She is precious. We have something in common, a very rare disease. Hang in there, medical innovations happen in fits and spurts. We went 10 years with little progress in the treatment a life-changing drug was found to be effective, not a cure but life changing. Good luck and prayers for you!

  2. Jen says:

    Your daughter is beautiful. I have a daughter who just turned 2 and also has salt-wasting CAH. Her first year was very difficult as she also had extremely high blood pressure and eating/growth problems, but she is doing great now. Her first time home from the children’s hospital was probably the most frightening time of our lives since our children’s hospital does not have an outpatient pharmacy and the first two pharmacies we went to could not fill her prescription since they didn’t carry her meds. She also had the salt solution and one pharmacy had never even heard of that. Finally we found a great apothecary who we still use today.

    We live in Canada and don’t have many resources. My daughter’s paediatric endocrinologist has never had an infant patient with CAH before, but she has been very proactive and willing to do research. I recommend the UK support group livingwithcah.org as I found it to be very helpful.

    I wish you and your family all the best.

  3. Catherine says:

    My daughter also has CAH. She’s now 9 months old and is doing great! If you want infos about CAH, there’s an excellent book called “Congenital adrenal hyperplasia: a parents’ guide”, written by Dr. Rivkees and sold on amazon. It’s pretty complete. Also, if you can read french, there’s a yahoo support group on “hyperplasie congénitale des surrénales” and also a facebook group under the same name.
    Good luck with your child. Wish you the best!

  4. Crickett says:

    My son was the 3rd one born in this country with “salt wasting” CAH. He’s turning 25 next month. When he was born the treatment of this disease was purely experimental. Thankfully they found a way to treat this disease.
    It has definitely been a difficult road and due to the long term use of the steroids used to treat this, his body has suffered damage. He soon will be undergoing open heart surgery and I’m terrified.
    All I can say to the parents with children suffering this disease is, ” do exactly as the doctors tells you to” meds on time are very important and don’t miss doctors appointments if possible. And follow your instinct. If your 6th sense says there’s something not right, make sure you push the docs to do the tests to find out. You will be labeled an over protective mom ect, but that for me has been a badge of honor and has saved my sons life many times over.
    I thank God for my boy and pray he will once again make it thru this rough patch.
    I don’t mean to scare anyone, things are way different now in the treatment of CAH but the steroids will do damage. But ya gotta take the good with the bad I guess…
    If anyone knows of a chat room my son can go onto meet others line himself, I would appreciate a link or something to give him. He’s never met anyone with his disease and would like to…
    Thx n God Bless your babies!!
    Crickett

  5. Tanya says:

    My daughter was diagnosed with CAH at birth on 9/08/13.

  6. Misty Smith says:

    I myself was born with Salt-wasting CAH in 1978! Since then I had to have both Adrenal Glands removed. They were enlarged and kept getting bigger, so my surgeon decided to remove one in fear of cancer! Left Gland weighted 49grams. 2 months later had the right removed. It weighed in at 50grams! I have the best Endocrinologist and surgeon ever. Without both of my Dr’s working together to find my Adrenal glands not working, I wouldn’t be here without Dr. Mark Wyatt my surgeon! My dose of Hydrocortisone is 20mg 3x a day and .1mg Florinef. Since my adrenal surgery I have been in and out of the hospital. But that is expected. Once I get my stress cruise in the ER and get admitted for up to a week or sometimes more to get my levels stable. I an now 36 and doing good!

    Misty Smith– GA

  7. Crickett says:

    Wow its so amazing to hear of someone older than my boy that has CAH! I met a young girl and her little brother (both born w/cah) at the NICU where my son was admired not long after his birth.
    Daniel is 25 now and having a rough time. His health has really taken a turn for the worse. He can’t stop vomiting and his meds n dose are the same as yours. His levels are pretty good so were still in the “trying to figure it out mode”…
    I’m so glad your doing so well, its good to hear. My son has never met anyone that shares his disease.
    Thx for sharing n God bless 🙂

  8. n icole greer says:

    my son is 49 has salt wasting cah is in nc hospital with pancreaitis in worst form ,it is hard to treat because of steroids in there bodies , even harder to let doctors know how different they are . when it comes to ordinary treatment, they really do not get it , our experience in hospitals have been a horror story,they are good doctors and nurses but have no knowledge what are the signs when they bodies are in stress , and how fast the mind and body shuts down .there are so few people with this syndrome , the medical staff has no experience. my son will like to get in touch ..if he makes it ,he been in icu now for 7 weeks there must be abetter way to treat them, we had so many heartaches and still have only god can help us know .tell your son dexamthesone to avoid it god bless him nicole

  9. Jessie Berg says:

    I am a 17 year old girl born with classic CAH. It has been a whirl wind of crazy! I had corrective surgery as an infant baby, supposedly the procedure went well, but 16 years later we find out that he had actually lost blood supply to that “area”, on top of that I had to have a second surgery, which we always knew we’d have to do, in order to increase the size of my vagina. This embarrassing and painful dialating surgery was the last step to “normalizing” my “area”. I am not salt wasting, so I take 3 doses of hydrocortisone and Florinef each day, and have thankfully never had to use my injection. I have been participating in a study at the National Institute of Health in DC for 14 years, and also see a pediatric endocrinologist close to home. For me, the daily oral medication balancing is not the difficult part, besides the blood draws which I had an incredibly hard time with when I was younger. The effects of virilization has been a bit more complicated, besides my 2 surgeries, I also suffer from incontinence both bedtime and daytime, and have little sensual feeling “down there”.
    DESPITE, all of the bumps in the road I have lead a relatively normal life. I went to sleep away camp for 2 months every summer for 8 years and enjoy playing soccer on my high school varsity team. I do well socially and have many friends and family members who care deeply about me. I strongly believe that my issues with CAH have been worst-case-scenario and despite it all I have lead a happy, healthy life so far. (I am also 5’2 if you’re worried about height!) CAH is a part of me, but it does not define my identity.

  10. Mary huggins says:

    my son has CAH and is 9 yrs. old is there a support group in or near Savannah Tn

  11. Dixie says:

    How did you get her to take salt when she was a baby? My grandson has IMAGe syndrome, extremely rare, 1-21 in entire world. He is only 4 months old and needs salt added. How to give it? He HATES it in his milk.

  12. Elena says:

    Hi, my daughter has CAH sw form. Now she has 18months, but is very small 74sm,8kg. The doses are hydrocortisone 1+1+2 and florineff 0.1mg once a day. Please if someone has the same problem with growing, write here!

  13. Sarah says:

    Hi all my child was born with cah wen i was pregnant i was really ill i had 2 musscarriges and had two healty girls we were told we were having a boy in loads of different scans so we were over the moon to be having our first son i was induced 1 week early nd still wen our baby was born it was a boy they thought he had hyperspedies which is common for a boy but then the way the baby peed in hospital made the doctors alarms rised so we were brought into a room nd was told we dont no weather ur baby is a boy/ or a girl so they done loads of test nd it confirmed our baby was infact a girl born with cah she has had investigation surgery and will need corrective surgery later in life because they dont want to damage nerves down below she will have at least 3 surgery starting from pubperty so she understand and they dont damage nerves or sensations and shell be able to say. She is only 6 months old now so shell have a thought road ahead of her she is currently taking hydrocortisone x3 per day flutrocortizon x 2 per day
    And sodium cloride x 4 per day anyone else similar sitution..?

  14. Tanya says:

    Jessie thank you for sharing your story my 3 yr old daughter has cah takes the same med you do has also had a surgery but will need another. We are so worried about her height they are talking about doing growth hormones. I feel she is just short as I am only 5 ft and her father is 5’8. Did you have to do growth hormone shots?? Thank you. Tanya

  15. John reigns says:

    hello, I’m out here living in japan. Our obstetrician revealed to us that we would be having a girl . When she came out her genitals were dark and swollen . We figured it was normal because of the hormones , and the fact that she’s half black anyway . Still they wanted us to follow up with a pediatrician . He came days later and evaluated her and said she might in fact be a boy. You can imagine how much sleep I got that night . Then we had to get her driven to a nicu at a hospital where she stayed for a few days then she was able to come home for a day after which we drive her way out to a large children’s hospital. There she was evaluated , X-rayed and everything . She’s a girl alright we had relief there but she was also diagnosed with salt wasting classic cah, the worst kind . She had to stay in the hospitals for a week and it was rough working and pretending everything was good waiting to be let off so I could drive out to see her only to leave her at 10pm to drive the wife back home to take care of our other kid. Luckily grandma was watching our first kid . It was also a challenger finding a good oharmaxhbrhat would have our drugs in powder form and keepnir in stock . They vowed to us that they would have it in stock for as long as they’re open. They’ve kept their promise and it’s made our lives much easier . The kid is happy and playing and we just make it apart of our life. All three meds 3 times a day . We have her meds in a pouch ready to deploy when we are out and about . We keep it very private though and leave it to her to decide who she wants to tell. Life ain’t so bad so far , 7 months in now. My wife stayed at home and manages the kids to include our baby’s meds and I do her third round at night . Drives her to her appts too and gets a cut of my check so she doesn’t have to have a traditional job. We make it work

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