Wednesday, December 9, 2009
One little boy down for his nap so we will continue!
A couple more things about collodion babies before I go onto Lamellar Ichthyosis.
Skin management of a collodion baby is quite intense. Brandyn had Eurcerin (Aquaphor in the US) applied every 3-4 hours in order to reduce the fissures to his skin. The other important factor was the 70% humidity in his isolatte. While in the NICU, it was extremely difficult for the doctors to maintain line access for antibiotics, blood work, etc. due to the creams. Brandyn had a umbilical line for 7 days which came out a few times and it was finally decided that a broviac line was the only option. We were quite upset about having the broviac line put in because putting a 7 day old baby under a GA is so nerve racking and to top it all off, we weren't really sure how the incision would go with the membrane still not shed over the area. We had fantastic doctors who stood by us every step of the way which was great.
Broviac line went in fine, no problem with the skin! Brandyn ended up needing a blood transfusion because of a blood infection which was another difficult decision (but also good reason for the broviac line to be in). I know it sounds ridiculous and my god I am so thankful to people who donate blood but when it's your baby having to have a transfusion it's so scary.
Another issue that Brandyn had was that because of his position in utero (breech) and possibly the skin being so tight, he developed a head preference called torticollis. He started having physiotherapy in the hosptial and this doesn't seem to be an issue any longer. His wonderful physiotherapist is extremely happy with his progress.
Another issue with the membrane is that sometimes it can be so tight around the fingers and toes that it can cut off blood supply. Brandyn's membrane shed by about 6weeks but his fingers didn't shed until he was about 5 months. One day we noticed one of his fingers was blue/black because of a "ring" of membrane around the tip. Quite scary actually and we were immediately sent to a plastic surgeon who snipped the membrane off the tip. Boy was that a pleasant experience!!! No anaesthetic at at all..done over again, I would have insisted but I didn't really know what was going to happen as I was clueless about a lot of this.
Brandyn was released from the NICU at 4 weeks old exactly once he was able to take a bottle/breastfeed, clear of infections and regulate his body temperature without the isolette.
Genetics- When Brandyn was in the NICU, we spoke with the genetics team about the condition. We decided to go ahead and do a blood test for the most common gene mutation for collodion babies, TGM1. We were told that the membrane could mean a lot of things Lamellar ichthyosis, NBCIE, Gaucher's disease and quite a few more I can't remember. The most common outcome is Lamellar ichthyosis. We received our results 12 weeks later confirming a TGM1 mutation. The next day, our dermatologist diagnosed Brandyn with Lamellar, based on both the results and the way his skin was presenting.
When Brandyn's membrane shed, there was no scaling at all. For awhile we felt that perhaps Brandyn did have self-healing skin. As the weeks went by, his skin became very dry and then the scales started to come through.
I'm not going to go into Lamellar Ichthyosis from a medical standpoint. I still have trouble understanding it but in non-medical terminology it goes something like this. We all shed skin but with unaffected skin, this happens at a normal rate and so we don't even realize it's happening. With Lamellar Ichthyosis, the skin grows at a normal rate but does not shed at a normal rate and sheds too slowly, thus creating a build up of scaly skin.
Brandyn's skin doesn't hold any moisture and it's a never ending battle of trying to keep the skin moist so it doesn't crack and open him up to infections. Baths help tremendously. When you think of dry skin, you think baths are probably bad because they strip the skin of their natural oils. This is the opposite with Brandyn. The water actually puts the moisture back into his skin! Our daily routine goes something like this..
Wake up- Lactic acid based cream to promote the shedding of the skin, covered by Eurcerin or another petroleum based ointment. Eye drops to keep the corneas healthy (they are made of skin cells and dry out too!!)
Mid-morning- Long bath (hopefully long but with a toddler who knows LOL). QV bath oil in the water and Phisohex with 1% triclosen to help prevent MRSA infections. After bath, full cream (lactic acid cream, Eucerin..) We also apply Tazorac to Brandyn's scalp to help control the scales so that he doens't get MRSA infections. Tazorac is a topical retinoid.
After nap- More cream and eye drops but not the lactic acid cream or tazorac
Bath again- If lucky..I have given up at the moment because he's just too active but two baths a day REALLY helps.
Bedtime cream- Full cream, Lacrilube in eyes
Ear care- 2 drops of olive oil (YES, that stuff in your local supermarket!) in each ear every 4 days. The skin build up in the ear canal can prevent Brandyn from hearing properly so it's important to keep up on this. We see an ENT who checks his ears every 3 months.
That gives you an idea but whenever his skin is looking dry, we cream!
Infections are also a big problem. We have had numerous MRSA scalp infections over the passed year (10?). 1 week on antibiotics, 1 week off and then he has the infection again. Since using the tazorac and removing a lot of the scales on his scalp we have been infection free for about 8 weeks!!!
Tomorrow I will continue and also explain the social issues we have encountered which is one reason I want to create the awareness for the condition.
Tuesday, December 8, 2009
My name is Morgan and I'm 25 years old. I have a gorgeous little boy named Brandyn who is 17 months old.
I have started this blog for a few reasons, the first being that I want to create awareness for my son's condition, lamellar ichthyosis. I hope this can be a place where parents of children born with this condition can come and have a better idea of what to expect. When Brandyn was born, I was lost and there wasn't much information here in Australia. I have since found the support forum of ichthyosis.com and I am so grateful to all of those people there for guiding me.
I also feel that if people knew more about the condition, they would be less judgemental and accepting. I hope one day that people won't judge a person because of how they look but who they are inside. I realize this blog won't change the world but I feel I need to do my part.
So lets get started!!
Lamellar ichthyosis is a rare autosomal recessive genetic condition affecting between 1 in 200,000 - 1 in 600,000 people (depends where you look it up!). Babies are born in a tight shiny layer called a collodion membrane (see below). The membrane sheds within the first few weeks of life, revealing the underlying skin condition (usually lamellar ichthyosis or NBCIE which is grouped under ARCI- Autosomal recessive congenital ichthyosis). 5-10% of collodion babies have so called self-healing skin and have no underlying skin condition.
The first few weeks are rough. When Brandyn was born, we were told it was unlikely he would survive. Most collodion babies do survive with the help of a NICU but our journey certainly wasn't without incident. The membrane was so tight around his torso, he couldn't breath and was ventilated for the first few days of life.
Brandyn was transferred via NETS (Neonatal Emergency Transfer Service) to the local Children's hospital. He spent the next 4 weeks under blue lights (phototherapy) to help the shedding of the membrane.
When the membrane sheds, it leaves deep fissures in the skin, leaving the body open to infection. Brandyn had two MRSA blood infections in the hospital which were caught early due to blood tests and skin swabs every other day.
Eye care is also important with a collodion baby as the skin is too tight to allow the eyes to close (ectropion). This is managed by using eye products such as lacrilube and antibacterial eye ointments.
Feeding is also an issue with collodion babies as most of the time the baby cannot suck because of the tightness around the lips (eclabium). Once the membrane sheds, this improves.
Here is Brandyn when he was born.
I'm afraid that is all for today. I have so much more to write but Brandyn is awake from his nap!! I'm new at this blog stuff so I hope I did this correctly!! Tomorrow I will go into skin care and about lamellar ichthyosis itself.