Defiant of All Limitations

So...... We got the results from Lily's latest EEG. The neurologist was very happy with the readings he was able to obtain. He was not, however, able to put Lily neatly into a diagnostic box. Hmmmm.....big surprise!!

Her EEG is showing that she is still having fairly significant electrical activity while she is sleeping even while on medication (we half expected this). What he was surprised to note was that pattern of electrical activity was very close to ESES (Electrical Status Epilepticus of Sleep) it is not exactly that. ESES is what his original suspicion was. But apparently Lily doesn't want follow any particular known or understood pattern. From what I understand, at this point, there is no name for what she has it is just a very, very close relative of ESES.

What next? The doctor is going to go ahead and treat this the same way he would if it was actually ESES. We have been seeing significant improvements in her overall development since she started the seizure meds. and that is an indication that they are doing something. She was on the very lowest possible dose of Keppra so we will gradually be increasing it to see if we can bring those electrical impulses under control. The doctor is going to be comparing her original EEGs with this new one to see what the actual, measurable change has been with the change in dosages.

Apparently one of Lily's God given purposes in this life is to confound, aggravate, irritate, and leave the medical community scratching their heads. And she is so sweet and adorable she actually forces them to put aside their institutionally acquired apathy and do something for her!! In this day in age that is an incredibly powerful gift!

That's where things stand for now. We see her regular doctor on Friday for a check up. We are very anxious to see his reaction to all of the changes she has undergone since he last saw her in action. She slept through her entire appointment with him the last time we saw him - LOL!

Knit One Purl Two?

Now I am not a knitter, I am a crocheter, so forgive me if I have the terminology incorrect, but I understand the basic principles:-) One or two needles are used with yarn to create a series of knots. In both knitting and crocheting a pattern of "knots" is generally followed to produce an expected outcome (a hat, scarf, socks, etc.).

King David claimed God to be a knitter.

Psalm 139:13
13 For you created my inmost being;
you knit me together in my mother’s womb.

There is something very comforting to me about imagining God sitting in His big God rocking chair knitting me together. It also will help me explain, I think, what we found out today from Lily's test results.

We got back several test results all at once today. Lily had a genetics consult back on the 1st of August at which time they evaluated her to see if she fit the criteria for genetic testing, which she did. Basically she has had ongoing delays with an unknown cause so they can legitimately ask for an analysis of her DNA to look for genetic syndromes or other issues with her DNA. Genetics were also concerned that she may have misshapen vertebrae in her spine so they also wanted x-rays. Due to the seizures that started last month she also had an MRI of her brain done last week (genetics wanted one as well).

MRI came back as unremarkable. That means perfectly normal!! Yeah God! There has been an off chance all along that Lily could have mild cerebral palsy or some other type of brain abnormality. The more and more we have come to know our daughter the less and less we believed those possibilities, but the doctors needed proof and now they have it:-)

The spinal x-rays, as well, came back completely normal.

Now to explain what they found in genetics. First what they did was comb through all of Lily's chromosomes to make sure she wasn't missing any or that she didn't have any extra. Then they look even closer to see if any of the chromosomes are formed differently than what they believe to be standard. There are variations within standard so sometimes it is hard to tell what is actually enough of a deviation to cause problems.

Lily has the perfect 46 chromosomes, 23 pairs. However, on chromosome #2, she has a tiny add on. When a chromosome has extra material or is missing material it is described as positive, negative, or undetermined. Lily's addition is classified as "undetermined" because it is such a small amount of additional material that it may be standard. Another reason that it is classified as undetermined is because so few people have been discovered to have this deviation. One way we would have been able to establish if her deviation was standard would have been through family history, which of course we do not have.

From the limited research that had been done on this chromosomal difference three traits have come up fairly frequently (geneticists are only just beginning to understand what each chromosome does). The three traits are delayed gross motor development, delayed intellectual development, and febrile seizures. The other trait, common to many children with any type of chromosomal issues, is difficulty "growing". In Lily's case, gaining weight.

So what does this all mean and what do we do now? First off it means we praise God!! We are so thankful that we have answers and good answers at that. I know some of you might be thinking that this is horrible news, but really it is truly amazing and wonderful news to us. Lily does not have some horrible disease or syndrome. Her brain is completely intact, functional, and perfect. Her body is strong and healthy and growing stronger and healthier every day.

There is no ceiling on what Lily can achieve in this life. She may have to work a little harder and a little longer to get the same results as her peers, but there is nothing standing in her way to physically stop her from doing anything she is determined to do. God had meaning and purpose when He had us name her after the Morningstar Lily, which stands for strength and determination. God, and the strength and determination He has gifted her with are all she needs to succeed in this life. We will throw a lot of love in there for good measure:-)

A master knitter doesn't use a pattern - they create the pattern. There is also no such thing as a mistake to the Master either. The Master makes all things beautiful. God gave Lily an extra stitch because He wanted her to be an extra special girl.