We have a diagnosis...

Well, after two years we finally have a diagnosis for Ella. As you may have read in the last post, I went to a different opthamologist on Monday. I was expecting him to finally confirm that Ella was night blind or had ocular albinism..... but this was not the case............after a few minutes of looking into her eyes with a special machine, we have a totally different diagnosis. Ella has Optic Nerve Hypoplasia (ONH). Basically, her optic nerve is smaller then usual. We are very blessed that Ella has pretty good vision, because many children are blind.

Interestingly, this ONH condition is also related to problems with the pituitary gland (the master gland of the body). The optic nerve and the pituitary are in the same part of the brain.

Here is a better definition of ONH.

A person with Optic Nerve Hypoplasia (ONH) has small eye nerves (optic nerves) from the eye to the brain. Some people with Optic Nerve Hypoplasia also have an abnormal brain and a poorly functioning pituitary gland. This page explains the problems that can occur in children with Optic Nerve Hypoplasia. Your child may have none, any or all of these problems in a mild or more serious form. Depending on the person's problem sometimes the disease is called Optic nerve Hypoplasia (ONH), Septo-Optic Dysplasia, or De Morsier's Syndrome

Here are some of things associated with the pituitary that may have a problem:

-Thyroid

-growth hormone

-ADH- controls water in body which can cause diabetes insipidus (totally different from diabetes mellitus)

-sex hormones (testosterone, estrogen, progesterone)

cortisol and adrenal glands

hyperglycemia

After hearing all this you can probably guess that I have shed a few tears over it. However, I am extremely grateful to finally have a diagnosis that makes more sense. I am also very grateful that most of the pituitary stuff can be taken care of with medicine, although it will probably be for life. As you can see from the above red highlight, people with ONH may have none, any or all of these problems. Their vision and brain function also vary. Some are very smart, some have brain damage. It is so individual. It appears that Ella does not have brain damage. After reading many definitions and personal stories of children with onh, it also seems that strabismus, tactile issues, and gross motor delay are related.

Now, I am waiting anxiously for her blood work to come back. Long story, but I'm a little annoyed that I don't have the results already. It's been three weeks since I did the non genetic testing.

I just wanted to say that we feel so blessed to have Ella in our family, she is a joy and we are very hopeful that she will be able to live a good life. We are very glad to finally have some answers. If anyone wants to read more go to magicfoundation.org and click on optic nerve hypoplasia.

Also, interesting side note- Meri's daughter Meredith also has ONH.

BTW- Thanksgiving was great, I'll post some Thanksgiving pics later.