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Parents Magazine article
Saw this article in this months issue of Parents magazine and was shocked to read at the end that the woman profiled has a son with Jackson's disease-Galactosemia. Just thought it was interesting since it's so rare, and it shows the importance of heel prick testing at birth for rare genetic diseases-something I'm now passionate about and am shocked that not all states preform.
Also think it shows how sometimes those who are so passionate about some things, can be so blind to other possibilities. IE: when Dr's called me 5 days after Jackson was born and told me I had to immediately stop breastfeeding or else my son was going to die, some people in my life who are pro-breastfeeding (as I am/was) told me the Dr's were wrong, didn't know what they were talking about, and that I was going to be harming Jackson's future if I stopped breastfeeding. I tried to explain to them that apparently it's the only disease known to man where breast milk actually turns to poison in their little bodies and will cause irreversible damage or death, but that got me no where. Needless to say, these people are no longer in my life because they were too closed minded to see that in fact, it IS possible that for some people, this was not an option!
Long winded, yes, (sorry)! But here's a link to the article if anyone is interested!
https://www.parents.com/baby/care/pediatricians-medicine/genetic-testing/?page=1
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Re: Parents Magazine article
My gosh! I read this article and thought: "phew!". Thank God that mom decided to to the test. It must have been thrilling in some way to read the article.
To step on my soapbox for a moment: I am a huge advocate for vaccines. I'm sure this is swayed by my first born who is very immune deficient. It's all nice and well that mom's with healthy babe's want to pretend vaccines are linked to autism, etc and not give the recommended schedule. UNFORTUNATELY, you are putting my child at risk for developing these harmful illnesses because of it. Just because my child is vaccinated doesn't mean it's going to work 100% of the time, so get your kids vaccinated too!
Thank you for letting me indulge.
In an odd way, it definitely was thrilling. So weird since even his specialists don't know that much about the disease-there isn't much research on it still since most adults 25yrs old and older all died shortly after birth due to lack of knowledge and lack of screening. So yes, to see it in a major parenting magazing-with the disease actually in PRINT was thrilling.
And step on your soapbox all you want-we all have our "things" that we're passionate about, and I think it's important for each of us to read what others have to say!
I know if there was something printed about EB I'd go crazy sending it around to everyone I know so I get the whole thrilling part.
If you don't mind me asking, are you at all concerned that this baby might have the same condition as your son? If I overstepped I apologize. It's sort of the life of the SN mom's to be intruded on with these sorts of questions...
No, I don't mind you asking at all. Yes, parts of me are very concerned-there is a 25% chance that the baby will have it, and I BELIEVE a higher chance that they'll be a carrier at least, but I don't remember the percentage on that one. I'm more concerned if it's a girl (which of course I think the baby is-find out tomorrow)! Girls have many more complications with the disease involving reproductive organs and such. Many of them go through menopause in their late teens and early 20's, and can not have children which kills me. BUT, there are some who have been successful in having children, and no one knows why or how. So many unknowns with this disease since like I said before, there is just so little known about it due to lack of research.
We have to constantly monitor each and everything that Jackson eats, which to be honest, is making our family healthier since most processed foods are out of the question and I'm having to make most things completely from scratch (which I like anyway). On a good note, Jackson is doing so well, and his levels are so low, that the Dr's don't know what the heck to make of him. We have to get him tested for various things and blood drawn every 3 months since there is always a risk for organ problems and mental retardation (which he shows absolutely no signs of), and the medical team we meet with are just marveled at him. Scares the hell out of me that they don't know what to do with him though-and that no one really does, but I guess it's good??? We joke that one day he's going to have a variant of the disease named after him
Now if you don't mind ME asking you, what is EB??
Ready? Take a deep breath: Epidermolysis Bullosa. Say that ten times fast. It's a skin condition where the first and second layers of the skin aren't attached so any rubbing, friction or pressure causes Parker to get fluid-filled blisters which we then have to lance with a needle. And if she falls on the ground, or bangs into something her skin slough's off... It's turned our life upside down. But I'm finally getting used to sleeping like a bat
Parker's is doing so much better now than she ever has and we're very thankful for that. But there was definitely a time when she was an infant that I didn't know if she would make it. Scary. As. Hell. If you saw her today, you probably wouldn't notice it because the inflammation is under her clothes and just looks really blotchy and rashy.
DH nor I carry the gene. It was pure "luck" that Parker was born with it. Rowan is fine and we (as well as Rowan) have about the same chances of having an EB baby. Parker, because it's dominant for her, has a 50% chance of passing it on
I am NOT looking forward to when she realizes she's different and the teen years. They're going to break my heart.
Oh my God I've never heard of that before! Now how did you figure out she had it-just after she started having symptoms?
Jackson has the same chance of passing on Galactosemia on as Parker does. It's so weird how things turn out isn't it? Now is there anything she takes to help treat it or anything or is it just a given thing that will happen no matter what and there's nothing you can do about it?
I totally feel your pain about the upcoming years too. I feel like right now, since Jackson is so young and he's at home with me, I can control the situation. I fear when he's a little older and goes to friends houses and can't eat what they're eating or God forbid DOES eat what they are eating. Or in elementary school-trading lunches is a fear, as is just the quality of social life later in teen years-going out to restaurants and what not which is a big no-no for us right now. Oh well, I guess we'll have to learn as we go right?
Ha! Learning as we go is our mantra. There is no treatment for EB except to treat what occurs. There is no way to get ahead of it. If Parker's skin blisters we take care of it ASAP, because if not the blister will get bigger and more skin will die once we pop it, leading to a bigger scab that will inevitably cause more blistering around it and the cycle continues.
If she scrapes her knee we treat with hydrogen peroxide and keep it open because she can't use band-aids and if we were to bandage it as we did when she was a baby it'd just cause more issue on the boarders of the bandages. We cross our fingers she don't get an infection...not the best way to treat, but realistically, it's the only way.
We knew Parker had something the moment she was born. She was missing skin on both hands, both feet and she had a huge gouge on the inside of her knee like someone had knifed her. It was pretty traumatic. It affects in her mouth and internal organs with blisters and inflammation, eyes, fingernails (fall off or grow in very thick like a rabbits) and hair (pulls out very easily because the root is affected). It's overwhelming sometimes...Hooray for all-encompassing conditions!
::Butting in on your conversation!
What amazing mamas you are! I read that article too and was so shocked. I had no idea there was such a thing and I hesitated about getting these checks done with DD2 at the hospital, wanting to go home quickly and knowing we could do them at her first appt at 2 weeks. What a wake up call!
Thanks for sharing your story..both of you. I have also never heard of the skin condition. It's amazing how fragile we truly can be!
Something simple like band-aids-never would have thought of that but it's so obvious now that you say it. I'm sure it must have been so hard seeing her like that when she was first born and not knowing what was going on. I totally relate to the overwhelming feeling-that's why I honestly try not to think about it and the future and the "what-ifs" too often, it can drive you crazy! Just have to live in the here and now as best we can!
Aw thanks! But to speak for myself, I don't consider myself amazing in any way, these were just the cards we were dealt, and you just have to adjust accordingly. I'm sure if you or anyone else were in the same situation you'd react in the same way-there's really nothing else you can do! Crazy overwhelming at first and at times, but you learn to deal with it like it's nothing.
But I did want to share the article for the exact reason you wrote-many people do in fact hesitate about the tests, or deny them all together for whatever reason thinking that nothing would be wrong with their child, and the fact of the matter is, these tests are put in place for a reason, and you NEVER KNOW what can happen, and what life path you're going to be taken on.