A Genetic Diagnosis

Last week, a year after finally seeing a geneticist, we got a diagnosis from whole exome sequencing. They basically took blood from Graham, me (mom), and Matt (dad) and looked at all the genes involved. Graham has Mainzer-Saldino Syndrome, skeletal displaysia from abnormalities on gene IFT140. There are only 20 known cases ever. It turns out that Matt and I both have an abnormal copy of gene IFT140 and Graham got both of them. The chances of two people marrying that have an abnormality on the same gene are like 1 in hundreds of thousands. But since we do the chances of our kids having this is 1 in 4. So the fact that we had two healthy babies, Ben and Hallie, before we knew about this is a blessing and a miracle!

So what does this mean for Graham? Well, it means he will have kidney, vision, and bone issues in addition to the heart and lung issues we are already are facing (Tetralogy of Fallot and malacia requiring trach/vent). The condition causes ciliopathy which means the little cilia that move things in the body are abnormal.
Graham started having high blood pressures a few weeks ago and now we know why. The kidneys regulate blood pressure. Graham has chronic kidney disease and is in stage 3 (of 5) kidney failure. For now that means we have to use medicines to keep his blood pressure under control. Eventually, it will mean complete kidney failure which means dialysis or transplant if those are possible for Graham.

This syndrome is associated with Retinitis Pigmentosa which can eventually lead to blindness. Graham already has limited peripheral vision and can't see well in the dark which are symptoms of this condition. The ophthalmologist says there is no treatment. He hasn't been seen by the ophthalmologist recently so we don't know much more than this. We don't know how long before he has further vision loss. He sees fairly well now as he is able to do puzzles and put beads on a string. But he does run into things on the floor or to his side when walking because he can't see them.

We also recently went to an orthopedist for the first time. It turns out Graham has a 40% curve in his lower spine. That is quite impressive for a 3 year old. They want to do a sedated MRI to check for spinal tethering (the spinal cord attached to the spine) which could be corrected by surgery. Or it could just be scoliosis. They want to make a plastic back brace for him to wear. This will be complicated because of his bell shaped torso and his respiratory difficulties. Of course we already knew about the stenosis (narrowing) in his upper spine which he has had surgery for and may need more in the future. The genetic condition causes abnormality in bone structure and so growth is stunted. That's all we know for now.

So, its not good news. It has been difficult to digest. Through all the crazy health issues and surgeries and hospital stays we have always had reason to hope that Graham would get better as he got older and bigger. Well, now we have found out that he isn't getting better or bigger any time soon. He is actually going to get worse.  I type this update while in the hospital for the second time this week, because Graham got a stomach bug which quickly led to dehydration which made his kidneys angry.


It is helpful to have a diagnosis that ties all his health issues together and in some ways it may give his specialists some insight for proper treatment. But there is no cure (yet) for genetic conditions, we just have to treat each issue the best we can.

Please pray for perseverance and strength for Matt and I and our family. Please pray for wisdom for his doctors. Please pray for Graham to have some joys through all the sickness and for his salvation. I pray for Jesus to come back soon. Before Graham's kidneys fail and before the November election!

Here are a couple of recent pics to remind me and you that we do still have some smiles and good days and we thank God for them.