A special baby - part 2

I posted a life changing post on September 28 titled A Special Baby...just 22 days after Luke was born. He was diagnosed with a rare genetic potentially life threatening skin disease called Epidermolysis Bullosa. There was SO much to learn.

Here we are almost 6 months later. It has been the happiest and saddest 6 months of our lives. Last Thursday, March 4, I got the LONG awaited phone call from the Texas Children's Genetics Department with the results of Luke's specific type of EB. This is important information because it helps us know his prognosis. He has been diagnosed with the Simplex Dowling Meara type of EB (EBS-DM). Here is the description from the Debra site:

Dowling Meara Subtype of EB Simplex:

EBS-DM is a generalized form of EB simplex. This type of EB is probably the most severe form of EB Simplex.

Infants are often born with widespread grouping of blisters on the face, trunk and limbs. Blisters on hands and feet often eventually cause confluent keratoderma (thickening of the skin). In many cases these calluses form complete thickening of the palms and soles. If the thickening is severe enough it may limit the range of motion of a joint. In such cases, consultation from a surgeon may be necessary to determine the best course of treatment.

Heat may exacerbate blistering. Milia (tiny cysts on skin) may be present after blisters have healed. Nail thickening and discoloration is a common feature.

Blistering in Dowling Meara EBS can involve organs including the oral cavity, gastrointestinal tract and rarely, the upper respiratory tree.

Electron microscopy shows clumps of keratin filaments, which are not seen in other forms of EB simplex.

Mutations are usually in the genes encoding K5 or K14.

Since EBS-DM is the most severe form of EBS, the widespread blistering may lead to death in infancy. However, blistering tends to become smaller and less problematic for most patients as they grow older.

*Since EB varies in severity these manifestations may or may not be experienced by the individual affected.

Common Manifestations of EBS:

Blisters
Keratoderma - Thickened skin on palms of hands and soles of feet. Confluent keratoderma in EBS-DM.
Nail dystrophy - The presence of rough, thickened or absent finger or toenails.
Problems with the soft tissue inside the mouth.

Uncommon Manifestations of EBS:

Milia - Tiny skin cysts.
Atrophic scarring - Depressions in skin as a result of thinning in epidermis or dermis.
Anemia - A reduced amount of red blood cells, volume of red blood cells, amount of hemoglobin. Hemoglobin is the oxygen carrying portion of the red blood cell. The heme aspect of hemoglobin, is the iron compound that makes up the pigment part of the hemoglobin molecule. Anemia is more common in the severely affected individual.
Growth retardation. This is more common in a severely affected individual.
Gastrointestinal tract - Involvement of the GI tract may include blisters in mouth, esophagus and/or anal margins.

Rare Manifestations of EBS:

Granulation tissue - The appearance of red fleshy tissue which is capillary formation during tissue healing This would be a rare occurrence in a person affected with EBS. This is more commonly seen in a person severely affected with Junctional EB.
Dental caries (cavities) - This is more common in people affected with RDEB or JEB however, if mouth care is not performed regularly it will increase chances of cavities.
Ocular (eye) involvement is more commonly seen in people with RDEB or JEB however, it has been reported in some forms of EBS.
Pseudosyndactyly - Fusion of fingers and/or toes. This manifestation is more commonly seen in RDEB. In rare instances it has been reported in EBS-DM.
Enamel hypoplasia - Underdeveloped enamel upon the teeth. This is more prevalent in patients with JEB.
Respiratory tract involvement. Rare occurrences have been noted in the more severely affected individual.
Genitourinary tract involvement. Rare occurrences involving the GU tract have been reported in some forms of EBS.

As you can see this is both good and sad news. Good because it is Simplex and sad because it is the most severe form. I just got off the phone with our Genetics doctor and it is highly recommended that Greg and I are tested. Based on the results of our labs, we will know more as to our potential for having more children with EB. The BEST case scenario is a 2/100 chance of us having another baby with EB. This might seem low, but for the average person, there is a 1/50,000 to 1/100,000 chance of having a baby with EB. Please pray with us as we have difficult decisions to make in the future.

Luke is doing great! He is seriously the happiest, most charismatic baby. He is finally getting over an awful stomach virus and starting to eat again!

We just got back from Vail on Sunday. I didn't get very many pictures of him because he stayed at the house with mom most of the time while we were out skiing! (thanks mom!)It was a great trip with family. Luke's blisters on his face started healing great with the cold, dry weather, however, he was taking a lot of meds so he had a rash on his face.