Some of you may remember a little over a year ago we sent DNA samples from Luke, myself, and Landen to Scotland to be studied and tested. The purpose was to help determine what type of Primordial Dwarfism (PD) Landen has out of six known types. We just found out that Landen has a brand-new type that has just been discovered. It does not have a name yet. A huge answer to prayer is that the vascular risk we were worried about in the beginning has now been ruled out. Landen does not have the gene mutation that would put him at risk for aneurysms or strokes.
The gene mutation that was found has only been found in four other children. From what we understand Landen and one other one are in America. Since this is completely new, the doctors do not know much about it. The first step the doctor took was to research if there has been anything discovered about the gene mutation. They did find other people with a mutation of the same gene however it is completely different than the mutation Landen and the other four children have. Basically, people with a mutation of the same gene have some working protein that is abnormal whereas Landen and the others have no working protein. Although they are dealing with the same gene they are dealing with different mutations.
The next step the doctor decided to take was to perform a blood test on Landen. The results will be back in 2-3 months. This test is breaking down the white blood cells, verifying that there is no working protein and seeing how his body responds to protein. Until the results are back, Landen cannot have any unnecessary radiation, such as CT scans and x-rays, because they are not sure how he will respond to it.
We also found out that Luke and I are both carriers of this gene mutation. More than likely this gene mutation has been passed down for who knows how many generations!? This proves we were made for each other!! ;) Haha! Well, we already knew that but it was just confirmed! ;) Every person has two copies of each gene, one inherited from each parent. Luke and I both have a non-working copy of this particular gene but not of the same copy. This means our children have a 1 in 4 chance of having PD. Our children can either have two working copies (not having PD), one working copy and one non-working copy (being a carrier of PD, like Luke and I), or have two non-working copies (resulting in PD).
As of right now the doctors do not notice anything obviously concerning and there is nothing else to test for. The blood test is the first step and will hopefully tell us more and where to go from there.
Landen got an overall good report! As you can imagine this is a lot to process. It will take some time and research to know more. Our doctors will continue to study this and keep us updated. Landen did have an x-ray of his hip that was approved and completely necessary. His hip continues to heal and grow as it should but is not where it should be yet. They will check it again in six months.
Landen just turned two and is 13 lbs. 10 oz and 27 inches tall. The doctor was very pleased with his development and speech! He is definitely not lacking in those areas! ;)
Thank you to every one of you who keep us in your thoughts and prayers! It means a lot to us to have the prayers of God’s people. Your prayers really do make a difference in our lives. We will continue to keep you updated so that you can pray specifically. Please don’t hesitate to ask us any questions about Landen!
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