Moving Forward

While doing research online about primordial dwarfism (PD) we kept seeing the name of Dr. Michael Bober. He is considered one of only a few experts that have studied PD. He has also been featured on TV about PD. Since PD is extremely rare there are not many doctors who have ever seen it let alone know much about it. We decided we would love the opportunity to meet this doctor. Luke simply decided to call the hospital where he practices, the DuPont Hospital for Children in Wilmington Delaware. To our surprise but not God's it was very simple to get through and after about an hour on the phone we had an appointment to meet Dr. Bober in two weeks! We could not believe it but we knew God had made things possible. We met with Dr. Bober last Friday and learned so much. First of all we were very happy with all of the staff from the Ronald McDonald House to the hospital. Everyone was extremely friendly! Dr. Bober himself came to get us from where we were waiting and met us! Now, this is a doctor who gets 14 million contacts a year and is incredibly busy. However, he gave us all the time he had and that meant a lot. We spent about 2 hours talking with him and the genetic counselor. As I said we learned so much but unfortunately we still have a lot to learn since we are dealing with something so rare. According to what we do know so far, Landen is the only one with PD in North Carolina and the youngest out of approximately 100 in the world. We learned that Landen's left hip is dislocated and that his hips are not formed correctly. This is not causing Landen any pain nor any developmental delays. However, it is causing his left leg to be shorter than his right leg and will cause major problems if it is not corrected. We are communicating with doctors to determine what steps are necessary to correct his hip problems. Please pray for wisdom and peace concerning these decisions.

There are six types of primordial dwarfism. Landen does not have any obvious symptoms of either type and for now falls into the "Unclassified" category. Dr. Bober was not comfortable making a diagnosis at this point. He said the wrong diagnosis is worst than no diagnosis. Although, we do not have an exact diagnosis, three types were ruled out. MOPD I, MOPD III, and Russell-Silver Syndrome were ruled out. Hopefully with more time and research we will know more. Speaking of research, we were asked to participate in two different studies for PD. The first one is the Registry Research at the hospital. The second one is DNA research. As of right now, we will participate in both. The first one is simply an agreement to let the hospital review Landen's medical records and follow his case. The second one involves DNA research of myself, Luke and Landen. We will provide DNA samples that will be shipped to Scotland. When the doctor conducting the research has enough samples he will run a batch of test. This could take up to a year. The main purpose for the DNA research is to look for mutations in the Pericentrin (PCNT) Gene.If he has this gene mutation he is at high vascular risk. If he does not he is not at vascular risk. The vascular risk include a stroke and brain aneurysm. One option is to have a MRI/MRA to determine his vascular risk to possibly prevent a stroke or aneurysm. However, anesthesia is extremely risky with his condition, which would be required for the test to be performed. Dr. Bober is not certain, but he does not have enough evidence to lead him to believe Landen has this gene mutation. So, the other option is to wait up to a year for DNA results to know for sure. However, this is also a risk because if he does have the gene mutation and we don't know about it a stroke or aneurysm can occur at any time. It has been known to happen to a six month old and to a baby in utero. Please pray for wisdom concerning this extremely difficult decision.

According to Landen's growth chart, his weight (9lbs. 13oz.) is that of a one month old, his height (23.2in.) is that of a two-and-a-half month old, and his head circumference is that of a term infant. So although he appears proportional he really is not. This actually confirms the diagnosis of primordial dwarfism. The definition of PD being 1) born small, 2)remains small, and 3)is disproportionate.

As you can imagine we are quite overwhelmed with all the information and we are still processing everything and probably will be for a long time. We want to thank everyone for their prayers and the support that has been given in different ways. We have been blessed beyond measure with love and support from our family, our church family and our friends. We are forever grateful!

We are constantly seeing God's fingerprints everywhere and that is what keeps us going! We don't know what God is doing but we know He knows best and one day God's perfect purpose will be revealed (John 13:7)! We also know that the peace of God which passeth all understanding will keep our hearts and minds through Christ Jesus (Phil. 4:7). "Blessed be the LORD God, the God of Israel, who only doeth wondrous things." -Psalm 72:18

The Ronald McDonald House of Delaware:

Landen with Ronald:)



The entrance to the hospital:


Dr. Bober and the genetic counselor with Landen: