25 weeker w/ Epidermolysis bullosa...

Specialties NICU

Published

I'll try to make this all as brief as possible...

I've been taking cary of this baby all week who was born at 25 2/7 weeks. Soon after birth, it was suspected that he had epidermolysis bullosa - the skin from his knees down was already peeling off... Upon getting more of a family history, it was discovered that parents had a daughter born at 27 weeks in Pakistan who died "from and infection in her legs because all the skin fell off". It was also discovered that these parents are first cousins (don't even get me started on that one... I know it's a cultural thing, but still!)

Anyway, this little guy has gotten progressively worse. He has never had any urine output - ever. Abdominal US revealed a whole ton of things: high grade partial pyloric stenosis, areas of decompressed bowel loops, bilat. hyperechoic kidneys with poor corticomedully comp/ wit renal dysplasia. no urine found in bladder. Bilateral ureteral stensosis or atresia... In other words, his kidneys are not formed right, so if he is making any urine at all - it has nowhere to go. Dermatology has taken a skin biopsy to confirm the epidermolysis bullosa diagnosis.

As I've been doing my research on all of this, as well as talking to the docs, we've determined that he most likely suffers from the junctional form of the disease - which is why his kidneys and such are all so severly affected. Our docs have now had several talks with the parents about all of this, and so has dermatology and genetics. However - the parents still want everything possible done for him - they are hoping for a miracle.

So my question after all of this, is what can we do for him to make him comfortable in the mean time?? He's in a giraffe bed w/ the humidity set at about 80%. We have him laying on Telfa, as he seemed to not stick to it nearly as much as anything else. The skin from his knees down on both legs is constantly peeling off, as is both wrists, fingers, groin area. We are applying liberal amounts of Aquaphor (as we would do with any baby this size...). His belly is huge (from a build up of tons of fluid in the periteneal space), so we are adjusting his vent settings accordingly. We are treating his acidosis/high potassium levels (>8) accordingly.... He is on a Fentanyl drip of 3mcg/kg/hr, with addional bolusis ordered prn.

All of the information I have found about this deals w/ term kids... I havn't been able to find anything regarding preemies w/ this disease. Is there anything else we should be doing for his skin/comfort level???

(Sorry for writing such a long post... for a little guy he sure is complicated!)

Specializes in CRNA, Finally retired.
This might sound like a stupid question ..... but can someone explain to me why he's hyperkalemic (I'm assuming it has something to do with his fluid/electrolyte imbalances) and the pathophysiology behind that?

Its secondary to the renal failure - one form of the failure is the inability to excrete the potassium ion. Patients of all ages with renal failure will experience hyperkalemia. Review your physiology text section on the renal tubules. This is the source of the problem.

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Specializes in NICU.
Its secondary to the renal failure - one form of the failure is the inability to excrete the potassium ion. Patients of all ages with renal failure will experience hyperkalemia. Review your physiology text section on the renal tubules. This is the source of the problem.

Ohh ok, that makes sense. Thanks for the info. I wasn't even sure where to get started looking for that information .... as this poor baby has so many problems :(

Thanks, subee :)

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Specializes in NICU/Neonatal transport.

I've seen the opposite issue with some middle-eastern families, they typically hold great importance on the overall function and future of the child.

Just from something that happened here recently, I would wonder how graphic and detailed the docs have been with the parents. If they truly understand what this child is going through etc.

In another NICU in town, the NP was telling me about a kid they had the ethics committee involved with etc. because the kid had hydroceph and parents didn't want a shunt. The NP sat down, drew pictures, showed CTs and really explained it to the mom until she truly understood, not just was saying she understood.

During this, she found all sorts of misconceptions by the mom (like, the child would need a shunt revision every 1-2 months, that they would forever have a wire hanging out of their brain to drain the fluid, that they could take the child home, treat the "swelling" and then do the surgery once the "swelling" had gone down.) The language and cultural barrier could have caused that baby to die. Or in your case, not to die immediately.

Once mom really understood what was going on in the above case, she did consent to the shunt, btw.

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Specializes in NICU.

I wanted to give thanks to all of you who offered your support/advice. Last week was a rather long and tiring one. Long story short, his condition continued to worsen through the end of the week / during the weekend. We kept going up on the insulin drip (along w/ his dextrose amounts) to try and keep up w/ his rising K+ (it got over 9 at one point!). Our docs were trying to avoid transfusing him, but when his hct got to about 15, they gave him some PRBC through his UAC (there was NO WAY we were going to get a PIV in him...). by this past Sunday (yesterday) his MAPs were in the low teens, despite being way fluid overloaded... and parents finally gave the ok to take him off support. According to the docs, it took him less than 5 min to pass once the vent was stopped. Very sad. His skin on his extremities was almost non-existent at this point - no matter what we did, it just kept getting worse. That's just the nature of the disease I guess... Thanks again for all of your support!

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Thanks for the update. Sounds like it was some week, but hopefully now there can be some peace for him and his family.

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Specializes in Nephrology, Cardiology, ER, ICU.

Peace to this precious child and to his equally precious caregivers!

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Specializes in NICU, PICU, PCVICU and peds oncology.
Peace to this precious child and to his equally precious caregivers!

Ditto. {{{{{{{{{{HUG}}}}}}}}}}

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Specializes in NICU, Infection Control.

Please know deep in your heart and brain that you did as much as you could for that baby and his family. This little guy will "stay" w/you for a while. Just let him. When it's time, ok to let go!

Best wishes to you and your colleagues. A job well done.

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Specializes in nicu.

i took care of a 35 weeker for months With EB. We used micropore dressings because it did not stick to his skin but only stuck to it self. I cant remember the company name or anyother names for it but will look that up and post for you when i find it out. We also gave the baby baths in the tub or even just a sponge bath to errode the dead skin every few days and as blisters formed we would clean them with alcohol and pop them with a sterile needle like a tb needle. We would keep him highly medicated. we also used blankets as diapers since normal diapers would stick to his skin and cause more break down. My advise for you is to make sure you take care of your self and take time off from having him/her as your patient all the time. I know that I got very exhausted when takeing care of him. His case was not one of the worst cases. From what i leared there are 3 major types of this disease with each type having i beleive 3 subtypes which rank the severity in each main type. My little one finally went home with lots of home care, I recently learned that his father had this as a child and now only gets blisters everynow and again and the mother couldn't tell that the father had this disease, of course there is more to the story. From what i understand the little guy is doing well it has been about 6 or 7 months since we discharged him. I hope this helps you out.

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Specializes in NICU.

(((((HUGS))))) Peace to him, his family, and you and the others that took such good care of him.

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Specializes in level 3 NICU.

God bless you for all your hard work! I have taken care of 2 babies like this both 23 weekers and it was the stuff nightmares are made of!:uhoh21: We did everthing you are doing and the burn unit agreed with our plan of care. Both died and it was BAD! But I have to say it was not from sepsis, renal failure and cardiac issues were the cause.

HHumm? It is not interesting that in 17 years of level 3 NICU I have never heard of an infant born to first cousins that was just able to go from L&D to the regular newborn nsy. We had this discussion @ work last week with some newborn nsy RN's. They said they don't get any babies born to first cousins. they only knew about the babies due to Mom being a Pt on the floor. Does this just happen in the US? Or do these infant fair better outside the USA? Anybody know? It seems to work for other countries for 1000's of years

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Specializes in NICU/Neonatal transport.

I would guess that the many of them are very closed lipped about their status as first cousins and because there are no issues with the pregnancy or baby, there's no need for anyone to know that information, so they don't share.

From what I've seen written about it and genetics, it doesn't seem like it would be an issue, unless the family is a carrier for genetic diseases, but you have that risk with anyone really, if your spouse just happens to have the same sorts of recessive genes as you.

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