puppy!

So, we must be crazy. We've got a kid with very special needs, and we decided to get a puppy. I suppose our lives aren't busy enough as it is. *sigh* Anyhow, I've wanted a puppy all my life, and Jim has always had a dog. So, we've taken the plunge. Here's our new baby girl, Josie:




She's a Staffordshire Bull Terrier and will grow up to be about 30-35 pounds. Staffords have the nickname, "the nanny dog," because they are so good with children. I think this breed is actually the 5th most popular in the UK. She'll come to live with us when she is old enough (at the end of May or early June). We figure she'll be good for our spirits. Also, we can use her as therapy for Eve (walking her, brushing her, etc.). It will be a lot of work taking care of a puppy (like having another baby), but we feel the rewards will be well worth it!

Oh, Eve's stander and gait trainer are in. She'll get them fitted on May 2nd. I am hoping to order a wheelchair then.

Welcome to Holland

WELCOME TO HOLLAND
byEmily Perl Kingsley.
c1987 by Emily Perl Kingsley. All rights reserved

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting. After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland." "Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy." But there's been a change in the flight plan. They've landed in Holland and there you must stay. The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place. So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met. It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts. But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed togo. That's what I had planned." And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss. But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

visit to the neurologist

Well, we went to the neurologist yesterday (dr. K). It's always such a pain to drive into Atlanta, but fortunately, Eve was really good. Really good. We were his last appointment of the day, which meant he was running more than an hour late. But it also meant that he did not rush out of our appt. In fact, I would say he even lingered. I was able to ask a list of questions, but I can't say that I got many answers. This is because there just aren't any answers. I'm just going to list some of the things we talked about, but not in any particular order. Please forgive the rambling nature.

First, we are to continue on the CoQ10 and we will test her levels in 3 months (locally) and he wants to see her back in 6 months. He is holding off on prescribing the carnatine for now and sticking with the CoQ10. I am almost relieved because I have read that the carnatine has a side effect of making your kid smell like dead fish. We are to continue with vaccinations as normally scheduled, because the risk of the disease is worse than the risk on an issue with the vaccination. The fact that she is complex I and III deficient doesn't coincide with clinical presentation. In other words, it doesn't really tell us much. The CoQ10 is supposed to help with energy in the cells, which I suppose help the body function better. As for his predictions about her prognosis - this is impossible. He said that we will need to use her as our crystal ball. If she is making slow progress, she will be on the stable end of things. If we start to see regression, and other system involvement, the news could be bad.

In the meantime, the mitochondrial DNA sequencing wil happen and this will tell us more information. It will tell us if it is a mito mutation or not. If not, we can reasonably assume it is nuclear DNA and is an autosomal recessive defect (and thus can look into egg/sperm donation for future kids). If it is mito mutation, than we will know it came from me and we will look into egg donation. If it is a mito mutation, it is possible that I also have it. But, we have no way of knowing what percentage of my mitochondria are affected. Because I am obviously without any symptoms, it is possible that say, 10% of my mitochondria are affected, but 80% of Eve's are. The miscarriage I had might have had 100% affected. But, if they find a mito mutation, they might be able to have more information about what to expect, and how to treat. But I am not sure on that.

Diabetes is connected. I am not sure how, but he said it is. Diabetes runs in my maternal side of the family. I'll ask the ped to check Eve the next time I see him (if he hasn't already tested for this). That's all I can think of for now. I am a bit drained and overwhelmed. I have managed to find a great website that has a group of parents of kids with mito disorders and it has already been very helpful. I found out how to save $35 on her CoQ10 through the umdf.org site. Oh, and we got some hand braces for Eve (which don't help her wrists, unfortunately, but do help her thumbs), and the bath chair finally came!!! Here are some pictures:

Clearly, her appetite is not a problem!

interesting link

A friend alerted me to the following link that explains more about mitochondrial disorders.
http://www.parent-2-parent.com/forum/showthread.php?t=24824
Also, a few of you have thoughtfully mentioned that you have seen CoQ10 at drugstores, etc. Thank you so much. As of right now, we are using a specific brand because it is the only one that has proven bioavailability. There has been no research comparing this brand to other brands however. So, we'll start with the most expensive. If it helps and it looks like she'll be on this long term, then we might experiment with less expensive and locally obtained brands. But thank you!

keeping things straight

This post is almost more for me than for you. One of the great things about doing this blog is that I am able to keep track of things and when they happened. Last week (Thursday) we went to the pediatrician. He prescribed antibiotics for Eve's sinus infection. Because the letter from Dr. Shoffner said we need to be vigilant about viruses and infections, Dr. Setia said that in the future if she gets a cold and it hangs around for more than 5-6 days we need to come see him. Also, that was the day we started the CoQ10. So, we'll see what happens. One more week until the appointment with Dr. Krawiecki. I think Eve will have another medication prescribed at that time.

Eve is doing well. She's a typical 2 year old in many ways. Last night she had a melt down at the dinner table because I wouldn't feed her her peaches. She is perfectly capable of using her fingers to eat them. But she didn't want to. Oh, the histrionics! So I just calmly ate my salad and ignored her. She got herself so worked up, that she wouldn't have been able to eat them by herself anyway. So when she calmed down a bit we compromised. I got out her fork and helped her stab the pieces and guide them to her mouth, my hand over her hand.

Today I visited her new school. I think it's going to be a great experience for her. She'll start in August and spend 4 mornings a week there. It looks like she'll have a great time.

we finally have a diagnosis

Well, the results are in from Dr. Shoffner and I've gotten to talk to Dr. Krawiecki briefly. He called me back yesterday and spent 20 minutes on the phone with me. He said that unfortunately, the tests that were run have no prognostic value. There is a possibility of all ranges of challenges for Eve, from stability to fatality. The first mitochondrial mutation was discovered in 1984. Dr. K said that when he first saw patients with this 20 years ago, he told them that the situation was grave (i.e., progressive and fatal). However, he is still seeing some of those patients today and they are stable. So, I am not as discouraged as I was last week. I truly feel that she has been doing better lately and has a great chance for stability.

He told me to go ahead and start Eve on the CoQ10 that Dr. S recommended and he gave me a dosage to follow. Unfortunately, it's very expensive and I don't think insurance will cover it because they will consider it a dietary supplement (it's not a prescription drug). Dr. K says that we will put her on it and look for progression and improvement of functioning. He said that he has then taken patients off the CoQ10 to see if they revert or not (indicating if the CoQ is helping or not). He said that all our questions will not be answered with this diagnosis, as always seems to be the case.

The diagnosis is helpful to some extent. We know that this is a genetic issue and this will have an impact on our future family planning. That being said, genetic counseling will also be difficult. Shoffner's diagnosis is probable mitochondrial encephalomyopathy. He is waiting on approval from insurance to perform mitochondial sequencing to differentiate between a nuclear DNA mutation and a mitchondrial DNA mutation. Dr. K said that if the problem is with nuclear DNA we will have a 25% chance of this happening again with a future child. If it is mitochondrial, the risk isn't known. Such a mutation could have been a sporadic mutation (i.e., random, no explanation for why), or one that has been hiding in family history. Also, given that I had a miscarriage in the fall, he thinks that the risks may be somewhat higher for me. Because the egg supplies the mitochondrial material (and not the sperm), we could always look to an egg donor for future kids if it turns out not to be a nuclear DNA mutation. Alternately, there is always adoption if we feel the risk is too great for us (for whatever type of mutation).

So, that's a lot to digest. This blog is very interesting for me. I really have no idea just how many people are reading this (and it is a public forum) and here I am sharing some very personal details, those that I wouldn't ordinarily advertise. But I know that my friends and family care about Eve and about us, and that these details are part of the story.

We see Dr. K in 2 weeks (he was able to move up our appointment), so that gives us time to collect our thoughts and questions. If you have any questions that you think would be important to ask him, I would appreciate your input. I'll be bringing a notebook with me to the appointment! Thanks for your love and support!