Neurologist visit today

We had a very informative visit with Dr. Hollman today. She is such a good doctor...straight to the point, but compassionate when she needs to be. She walked in and said, "My baby." She is clearly very concerned about Lydia. She asked me some questions about her episode on Saturday and concluded that it was not an infantile spasm...it was a seizure. The difference: Infantile spasms are a certain type of seizure only seen in babies....they throw their hands up... and rest about 8-10 seconds between each time. That is exactly what Lydia's spasms looked like before she started the medication...the seizure on Saturday looked totally different. It was practically continuous for about 2 minutes. So...we will again begin weaning her from the ACTH shots because they are only intended to treat infantile spasms (which they have stopped)...ACTH will not stop other kinds of seizures. If and when she has another seizure, Dr. Hollman wants us to call her...she even gave me her cell # in case it happens after hours. She said that it probably will happen again, and will probably be very similar. It could be soon or it could be in 2 weeks or it could be in 8 months...there is no way of knowing. She will then probably put her on a different medication to stop those seizures...not an injection...fwehh! She will probably have to take the medication indefinitely...for life...to stop the seizures. She has a medication in mind to use with her...because it has very few side effects.

Her big concerns:
Lydia's brain growth has continued to slow down...now in the 2nd percentile, and she feels like it will probably fall off of the chart in about 6-8 months. Her fontonelle is also very small, which means that her brain is not forcing the bones to stretch out. Lydia's development is significantly delayed...still not holding her head up in prone position at 5 months...and definitely not rolling over. Hollman is still concerned about her up-going toes.

She was pleased with her progress with her head control and with her tracking, smiling, cooing.... she just feels like she is "way behind." She said that her condition is totally different than Elise. She said, "Elise's problems are mild...This baby has big problems."

Dr. Hollman said that she is leaning more towards a Mitochondrial disease than Rett syndrome right now...though it could still be Rett. She is ready to test for it now so that we can find out for sure...I feel glad about that. I've been feeling lately like I want an answer, so that we can prepare for, treat, and help her to reach her potential for whatever it is. She wants to retest the lactic acid and pyruvic acid on Monday when the home health nurse draws blood...if those levels are still abnormal, it would suggest Mitochondrial disease...if so, Dr Hollman would probably order more tests to make sure. A muscle biopsy would be necessary to diagnose it. She feels that it is important to do this soon because she has seen some patients do better with these diseases if they take some kinds of medications. She emphasized the word "better"...they are not typical, but better. She confirmed that Mitochondrial disease has a wide range of outcomes, but she also pointed out that Lydia's case doesn't look good so far...so that would suggest that she might be on the lower end. She also said that there is also a possibility that it may not be any of these things...it might be due to damage that occured in utero that we didn't know about and will never know about...lack of blood supply, etc. She said that for babies to develop "normally" everything in utero must happen perfectly...the "miracle" of birth is no understatement.

I asked about her mention of cerebral palsy at the last visit, and if she thought that was still a possibility...she said that it is a possibility, but it is not a diagnosis. It is just another symptom, sort of like her developmental delay and small head...it does not explain everything. What she is looking to find is an overall diagnosis that will encompass all of her issues.

So, the plan is to test the lactic acid and pyruvic acid on Monday....from there, she may order further testing. Then, at our visit with Dr. Superneau on the 28th, we will ask him to do any pertinent tests necessary to hopefully make a diagnosis. We will wean from the ACTH and finish on Feb 28th instead of the original Feb 24th. We will see Dr Hollman again in March, and she will order an MRI to look for any changes since her first MRI at 5 weeks of age.

On a good note, Teresa came for OT this afternoon...and Lydia had a little solid food for the first time!! She had a little powderized oatmeal mixed with formula from a spoon. Though she was almost asleep...she did really well. I was very impressed...no gagging, no yucky faces...wow! Teresa was also happy to see her move her tongue forward to look for the food...that will help her developmentally to not keep her tongue back most of the time.

Our other two girls:
Elise has an appt with Dr Wood tomorrow to recheck her ears...I am hoping that her infection is gone. She has been a bit cranky the past couple of days...just not herself...I hope that's not a sign. She is now using "yes, mam" and "no, mam" very frequently when she talks to me...I love it!

Audrey has a recheck with Dr Petit (ENT) tomorrow too to make sure that the fluid buildup in her ears is gone. She has been such the sweetheart and helper lately. Elise has actually been letting her take care of her sometimes. Yesterday, she set her up in her chair for snack, cleaned her up when she was done, and even put a bandaid on a little scratch she had on her neck. It is so cute to watch her take care of her...although this morning she was trying to put her in time out for stepping on the nurse's scale...that's just a little to far, I think. :)

Thank you all for your continued prayers...