More info

It has been a long day...let me see if I can remember all of the information we received today. We arrived at our appt with Dr Superneau at 9:15...and didn't leave his office until 11:30. He is really concerned about all of the combined factors about Lydia. At the last visit, he said that if all was well by now, we would know that we worried for nothing...now he is leaning more to the side of "something is not right with her nervous system." Here are the issues: feeding problems, weight gain problems, developmental delays, upturned big toes, not holding her head up yet, lactic acid elevation, thyroid concerns, acid reflux and possible seizures. She actually had one of her episodes while we were at his office. Dr Superneau thought positively that it was seizure-like activity...I've also been thinking that in the last couple of days, since it always occurs in clusters. I haven't done a good job of keeping track either...my estimating skills aren't the best...so, this time I actually timed it: She had her trembling spell 8 times in 4 minutes. Another big concern he had was that her head growth has slowed down. Last visit, it was in the 10th percentile...this time, it was just under the 3rd percentile. Also, her soft spot was small...this all indicates that her brain is not growing as it should. Since the head is usually the last to be affected by malnutrition (and she has been eating fairly well anyway) he doesn't feel that it is an effect of poor nutrition. He feels that it is a defect in the function of her nervous system.

After her seizing episode, he called Dr Hollman to discuss the episode, the lack of head growth, and to find out the results of the EEG...since Dr Hollman (neurologist) is the person who interprets the results. He came back out to talk to us and said that Dr Hollman told him that the results of the EEG were normal, but in light of their conversation, she wanted us to see her now. I asked if we could have lunch first (Martin and the girls had already walked downstairs to Subway), and he said that she was waiting for us right then....a little bone-chilling.

Dr Hollman and Dr Superneau both agreed that there were a couple of disorders/syndromes that they suspect for Lydia...though Superneau doesn't want to test for them now because we would sort of be on a fishing expedition and the treatment for the symptoms would not change at this point. He wants us to wait a while longer to see how her symptoms progress to help us narrow the possibilities before ordering very expensive tests. The disorders that come to mind for them are Rett Syndrome or some type of Mitochondrial disease, such as MELAS. I put some links below...none of these have very good outcomes. To put it in Dr. Hollman's words, "Rett is bad. It is very bad." After reading up on some of these things, it is easy to see why they suspect them with Lydia...she has many of the symptoms. Although, Elise had many of the symptoms of William's syndrome and was found not to have it. All I know is that it is what it is, and we will deal with whatever comes our way. My hope is that Lydia will grow and develop as normally as possible. My prayer is that God teaches and molds me to be the kind of mother that she needs. I've had some time to reflect on this situation over the past couple of months, and I feel like this...God, for some reason felt that there should be a Lydia in this world...created perfectly the way that she is (and she must be perfectly the way that God wanted her because God doesn't make mistakes)...and...for some reason he thought that Martin and I would be the best parents to care for her...what a compliment and an honor! I know that He won't abandon us, so I am up to the challenge with Him by our sides. My friend, Sabrina, sent me an email recently...She said that God doesn't give us more than we can handle, so He must really have a lot of confidence in me. I don't know if that's true, but it's kind of nice to think of it that way.

Back to the seizure-type episodes...Superneau and Hollman agree that it is probably infantile spasms. Everything about what we describe points to this...everything except the results of the EEG. But, as Dr Superneau said...we treat the patient, not the paper. Dr. Hollman wants to treat this as soon as possible so that we don't risk any further brain damage. Lydia will have another EEG next Monday to see if maybe we caught it too early, and that is the reason that it was normal...possibly by next Monday we will see some abnormalities in the EEG. Regardless, we will start treatment next Monday....daily injections for one month followed by a weaning process: 1 shot every other day for a month. Home health will come to do it for a week and then they will teach us how to do it for the remaining period. Dr Hollman said that this treatment almost always stops the spasms. She will begin the insurance process now because they almost always try to decline to pay for it....one vile of medication that holds 20 doses costs $29,000. Unbelievable!! She also said that there are some side effects to the medication: increased appetite and weight are two of the side effects (sounds like a good thing for Lydia, but Hollman assured me that it was not really a good thing)...along with swelling and puffiness of the face, increased blood pressure, and extreme irritability. She will want her blood pressure to be taken three times a week while receiving the injections and take regular blood tests for something else...can't remember right now what it is. In the meantime, we will go back tomorrow for a blood test to check her thyroid levels to be sure that the medication for that is helping.

I'm sorry I've declined to talk about this with everyone who has called...it is just, as you see, SO MUCH info. Although I have complete trust in God, this is all so overwhelming and stressful. Please pray for Lydia and our family.

Rett Syndrome
http://www.healthnewsflash.com/conditions/rett_syndrome.php
Mitochondrial diseases
http://www.mda.org/publications/Quest/q65mito.html
MELAS
http://www.medicinenet.com/melas_syndrome/article.htm