I took Carmen to the lab yesterday to return a urine sample and have some blood work done. We arrived at the lab at 4 PM, allowing plenty of time before lab closing at 5 PM. After a brief wait in the lobby, we were taken to the exam room in the back.

The lab technician came in and, after brief small talk, began looking for a vein in Carmen’s arms. I wished him, “Good luck!”. Carmen has always been a bit chunky so finding veins has been challenging in the past. As she seems to be retaining fluids (the purpose of our visit), it would seem to be that much more difficult to find a vein this time.

After about 10 minutes, he called in another tech to help. The 2nd tech looked for about 5 minutes and thought he found a vein in her left arm but wasn’t sure. “She’s cold. Let’s try to warm her up for a few minutes and then look again.” So they put warming pads on Carmen’s arms and hands.

About 5 minutes later, the two technicians returned and began looking for veins once more. By this time, a third tech joined them. All three of them took turns with Carmen’s arms. None of them found a vein.

A few minutes later, a fourth person joined us in our ever-shrinking exam room. She took one look at Carmen and then turned to me. “She looks a lot like my daughter. What’s wrong with her?”

“She has a disease called Tay Sachs,” I told her. “It’s a genetic, degenerative, neurological disease. It slowly shuts everything down.”

“Is she going to be OK?” she asked.

“No.” (Now, I’ve replayed this in my head a hundred times since and thought of at least a thousand different things I could have or should have said that would have been more hopeful. But in that moment, “No” was all that came out.)

Immediately, tears welled up in her eyes as she turned slowly and walked out of the room. She returned a few minutes later, her eyes clearly red and her nose still sniffling a bit.

…

I often forget that what is now normal for us is still very raw and almost unbelievable to others we encounter.

Believe it or not, it’s actually nice when people react with heartfelt sorrow, not because I want people to feel sorry for Carmen or us, but because it reminds me that this is emotional. It’s easy to become calloused to what’s going on. It’s nice to feel pain every now and again. It is a gentle reminder that I am still alive and that I still care about Carmen!

I love you Carmen!

…

PS. You’ll be happy to know that they did eventually find a vein in Carmen’s hand and at around 5:30 PM were able to get enough blood for everything except the blood culture.

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I’m not sure I will get the details right but I want to ask for prayers for the family and friends of the Jewish couple, the Holtzbergs, slain in the Mumbai terrorist attacks. And extra prayers for their two year old son, Moshe. The Holtzbergs lost their firstborn to Tay Sachs and another son is hospitalized in Israel with Tay Sachs. An Indian nanny rescued Moshe during the attacks.

My heart hurts for this little boy who has lost so much.

http://www.abcnews.go.com/International/US/story?id=6373991&page=1

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Before I get into our continued C-diff saga, I want to ask for prayers for sweet Isaiah. He is 20 months old and has Tay Sachs. He only has a short time left. I am sure his parents would appreciate prayers and notes of encouragement in Isaiah’s caringbridge guestbook. http://www.caringbridge.org/visit/isaiahproject.

(After I posted this journal, I checked Isaiah’s site and read that he passed away tonight. My heart goes out to this family. We met them at last year’s Tay Sachs family conference. Isaiah was an adorable one year old when we met him. Every time we hear of another child with Tay Sachs passing away, our hearts hurt. This one is particularly hard.)

We took Carmen to Children’s to have her feeding tube replaced today but the doctor needed additional supplies so we rescheduled for Tuesday. We decided to do this bedside, without anesthesia. We are not sure Carmen would do well under anesthesia and might not be able to come off a breathing tube so bedside seems to be a better choice. Hopefully she will not be in pain.

We talked to Carmen’s gastroenterologist about the C-diff. She said to continue the Vancomycin and the VSL#3 probiotic. I have been giving Carmen 1 packet of VSL#3 per day but the doctor is going to look into a larger dose. She said they give some elderly people 6-8 packets per day! Considering that each packet cost between $1-2, that is not cheap. We have always thought that if we can’t get rid of the C-diff with oral antibiotics, the next step would be IV antibiotics. The doctor said that IV antibiotics are less likely to get rid of C-diff than oral antibiotics. That is not good news because we are running out of options.

The doctor did say that perhaps changing the feeding tube would help as C-diff might be colonizing in the tube.

And Dave’s sister suggested we give Carmen a teaspoon of raw apple cider vinegar every day to get her pH balance to a good level so that the probiotics can work.

C-diff is contagious and we have been concerned about anyone catching it from Carmen. The doctor said that the people to really be concerned about are the elderly and immunosuppressed. She said that babies often carry C-diff but have no symptoms so young babies are not as much of a concern. (I read that 80% of babies have C-diff but do not show any symptoms so it is not considered problematic- interesting, huh?) 

We do not want to sequester Carmen away for the rest of her life. Or turn into hermits ourselves. That is a seriously depressing thought. We don’t want to put others at risk either. So, please, please pray that the C-diff goes away!

C-diff is a seriously frustrating condition!!!!!!!!!!!!!!!!!!!!!!!

Lauren and either Dave or New York Grandpa (I can’t remember who!) made this bracelet for Carmen.

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We want to wish Rachaeli a happy birthday! Rachaeli has Tay Sachs and Saturday, October 25th, reached a milestone that few children with Tay Sachs reach. She turned SIX! Happy, happy birthday to beautiful Rachaeli.

When we first found out that Carmen might have Tay Sachs, I searched the internet for information. The first personal site I found was Rachaeli’s, www.rachaeli.com. I read every single word of her site and decided that I wanted to have a similar attitude as Rachaeli’s family. The following is an excerpt from Rachaeli’s site:

“Her visit to this world would likely be brief; Tay Sachs Disease would slowly and progressively return her to her Creator in Heaven. We struggled with the notion of an illness for which there was no treatment or cure. We struggled with how much we were being forced to relinquish. What we failed to realize, however, was how much Rachaeli would enrich our lives along the way.”

This past March we went to the annual Tay Sachs family conference. We had the priviledge of meeting Rachaeli and her family and taking some pictures of Rachaeli and Carmen together.

Rachaeli and Carmen, March 2008

Rachaeli’s and Carmen’s Hands

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I’m sure you’ve all gotten those emails about “You Know You….” were a kid in the 80s, are a Texan, are a New York Yankees fan, etc.

Here’s mine: You know you have a child with Tay Sachs when you spend so much time at the doctor’s that your healthy child draws a No Cell Phones Allowed sign on her Doodle Pro:

So, tell me your “You Know You…”

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Dear Miss Karen,

I am very sorry I pooped all over you yesterday. My mom says it is not very ladylike to poop on our friends! I try not to do things like that but sometimes they happen. Maybe my mom should move me up to size 7 diapers. You were very kind to help my mom clean me up and I hope the Lysol didn’t bleach your pants!

Love, Carmen

Last night I was getting Carmen’s medicine together and thought I would take a picture. Carmen is on fewer medications than she was a few months ago but she is still on a lot! Carmen gets morning, noon and evening medications plus a couple of medications in the middle of the night. She used to get Robinul for secretions until we switched to the Scopolamine patch. She also used to get Senna and Doculiquid for constipation but that hasn’t been a problem lately with all the diarrhea. Speaking of diarrhea, Carmen will start Vancomycin on Saturday, the second drug to treat C-diff.

We also give Carmen two different probiotics and Juice Plus Veggie and Fruit during the day.

Evening medications, left to right:

Phenobarbital, Keppra, Reglan, Prevacid, Flagyl, water to flush tube, Ativan suppository, Xoponex, Pulmicort, and sponge with Nystatin on it.

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The Strength of an Egg
by J. Freitag

Parents of children with a terminal illness are often referred to or viewed as having strength “like a rock.” Albeit flattering, it isn’t quite true. It is more like the strength of an egg. An egg, you ask? Yes! If you’ll think about it, you’ll see my point. An egg has a polished, smooth outer appearance, with no cracks or weak spots visible. It seems almost inconceivable that the inside might not be so smooth or solid. Most children, at some point are shown the famous egg trick. An egg set at just the right angle can withstand enormous amounts of pressure and cannot be cracked or broken. Yet the same egg, tapped gently at an ever slightly different angle, will break. The contents, once so neatly concealed, will come spilling out. The no longer perfect shell will be crushed. It looks so fragile that it seems inconceivable that it ever held any strength. A rock, on the other hand, is solid all the way through. To break it is almost impossible. If you succeed, you will find that there is nothing inside but more rock. It takes a lot more than pure hardness to hold the hand of hope. Parents of [medically fragile] children are not solid all the way through. We hurt, we fear, we cry, we hope. It takes a very careful balancing act to keep the shell from being shattered. “Balancing an egg” while running a household, going for doctors’ visits and hospital stays, keeping the family together, and holding on to the constantly unraveling ties of your sanity can be very tricky indeed! Occasionally, the angle will be off and the shell will break, shattering hope and all the neatly secured appearances of a truly fragile existence. Unlike Humpty Dumpty, though, parents of medically fragile kids will pick themselves up and put themselves back together again.

I don’t normally post quotes or stories but I liked this one. I feel very fragile most of the time, just like an egg. Honestly, the only thing that is holding me together is God’s grace. When Carmen was first diagnosed, a friend of mine who has experienced great pain in her own life told me that I needed to read the Bible like never before. I’ll be honest and say that I haven’t spent much time reading the Bible in the past year but recently decided to read through the New Testament. I’ve read parts here and there but never from beginning to end. I am happy to say that I look forward to each chapter and my friend is right, digging into the Bible is keeping me from cracking! Today I commented to Dave that I have started reading through the New Testament and he said he is too.

Recently Lauren and I stopped at a garage sale and picked up a sand art jewelry making kit. Lauren made a bracelet for Carmen. The picture below is Carmen wearing the bracelet. Doesn’t Carmen have nice pudgy hands?! It often strikes me that Carmen is so beautiful and wonderfully made yet her body is wracked by such a horrific disease. When Carmen’s geneticist first told us that she suspected Carmen had Tay Sachs, I asked her why Tay Sachs. She listed the symptoms- exaggerated startle reflex, developmentally delayed, cherry red spots, etc. Then she said, “She is beautiful. Children with Tay Sachs are always beautiful.”

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As if Carmen isn’t going through enough, she continues to battle C-diff (Clostridium difficile). I wasn’t familiar with this lovely condition so I will give you a brief description, in case you are ever unfortunate enough to have it! Thank you to my sister-in-law for giving me a first-hand experience account! If you don’t wish to read this, then skip down below!

C. difficile bacteria are everywhere — in soil, air, water, human and animal feces, and on most surfaces. The bacteria don’t create problems until they grow in abnormally large numbers in the intestinal tract of people taking antibiotics. Then, C. difficile can cause symptoms ranging from diarrhea to life-threatening inflammations of the colon.

Signs and symptoms of this potentially life-threatening illness include: profuse and watery diarrhea, fever, abdominal pain, blood or pus in the stool, nausea, and dehydration. In severe cases (which we pray Carmen does not develop), C-diff can cause kidney failure, a hole in the bowel, a ruptured colon and death.

There are three treatment options: antibiotics- metronidazole (Flagyl) or vancomycin, probiotics and in severe cases surgery to remove the diseased portion of the bowel. Often, several months of treatment are required.

So, how do you avoid this vile disease? Avoid antibiotics unless you have to have them. Take probiotics. Wash, wash, wash, wash, wash your hands! If you are in the hospital, be a pain and make sure the staff is practicing excellent hygiene too! But, sometimes this condition is inevitable.

I’ve been cleaning everything in our house the best I can and we are on triple-hand-washing duty! Bleach is supposed to be good at killing C-diff spores but anti-bacterial cleaners supposedly do nothing. PLEASE pray that Carmen gets over this ASAP. PLEASE pray that Dave, Lauren and I and Carmen’s night nurses do not get C-diff.

Oh, and Carmen now has thrush and a diaper area yeast infection. I think I am going to go insane! I have been giving Carmen a super strong probiotic recommended for chemotherapy patients and I think I am going to add Saccharomyces boulardii probioic. I read that S. boulardii is specifically recommended for C-diff. Hopefully this probiotic combined with Flagyl will knock this stuff out.

Happy Birthday to sweet Amelia! Amelia turned 2 on Monday and has Tay Sachs. Her mom, Sarah, often leaves messages on our site. You can read more about this beautiful little girl here, http://www.caringbridge.org/visit/ameliaalford.

Big thanks to Tatiana for picking up Carmen’s prescription on Monday and Karen for dinner! Thank you Karen for taking Lauren to school this week and for all of you who so kindly bring Lauren home. And thanks to the lawn mower/weeding fairy! We will have to take a look at our security cameras so we can see what all you do out there! Ha!

Since I am a total nerd, here are a couple of pictures of C-diff.

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I have written this post in my head a dozen times but always stopped short of typing it up. Why? I don’t like being negative. But, I want to be real so here goes.

What is life like, taking care of a child with Tay Sachs? I suppose all of us affected by this disease would answer somewhat differently, somewhat the same. Here’s my response. It is HARD. It is stressful, exhausting, monotonous, heartbreaking and overwhelming. We have good days and bad. Carmen has good days and bad.

It is not so much that Carmen’s care is so hard that we cannot do it. We can take care of Carmen. And I think we do a really good job! But it is constant. If I take a shower after Dave has left for work, I set her up in the bathroom and keep one eye on her to make sure she is breathing and not choking. We pretty much stay on the main floor during the day because that is where we set up Carmen for the day. During the week, I stay at home almost all of the time. My days consist of various medicines and therapies and nurse visits.

For someone who used to go out every single day, this has been a hard adjustment. But, getting Carmen out is not an easy task. To go anywhere, whether that is to the park or a neighborhood walk or to the mall, Carmen needs oxygen tanks, suction machine, feeding pump and bag (if it is time for a feeding), extra clothes, burp clothes, bibs, Chux pads (Carmen’s diarrhea does not wait for an opportune time!), Diastat in case she has a big seizure, and her pediatric Kid Kart stroller. As Carmen gets heavier, carrying her around is more difficult too. She is 33 lbs. but has no muscle tone so that feels more like 50 lbs!

In addition to the daily care, we live with the reality that Carmen is dying. She has given us many scares in the past few months. When you wake up every morning and wonder if today is the day, you start living in a state of constant stress. Perhaps Carmen will remain stable for a long while and this intense stress will ease. We also live with extreme emotions. Part of us wants Carmen to live and live. The thought of Carmen dying is agonizing. But the other part of us hates what this disease has done to her. And Heaven will be so wonderful for her! So, we try to make every decision based on what is most comfortable for Carmen and not worry about how long she will live.

I will be completely honest and say that I have days where I do NOT want to be doing this anymore. I suppose I wouldn’t be human if I didn’t have those days. I know those feelings are selfish. I would love to have my normal life back. But, I have someone who needs me very, very much. Actually two little someones! (OK, three, counting Dave!) I pray every morning for the strength to not only get through the day but to get through it well.

For the past few months, we have dealt with one issue after another. Every couple of months we get Carmen’s seizures under control and then they start up again. By “under control” I mean stopping the grand mal seizures. We have stopped worrying about every other kind because they keep coming despite three different seizure medications. Every other week, Carmen gets a fever and goes back on an antibiotic. She has had chronic diarrhea for 6 weeks now. She is on constant oxygen. If it is not one thing, it is another.

I get a lot of, “I could never do what you are doing.” Well, sure you could. We wouldn’t have said we could have done this either. But you do what you have to do. And you try your best to do it with a good attitude. We are not saints. We are simply parents doing the best we can.

Perhaps the hardest part for me is the reality for Lauren. We’ve started trying to do Family Nights and other fun indoor activities so that Lauren has some fun in her life. I am SO glad she has school, a place to go just for her. I often wonder how Carmen’s illness will affect Lauren in the long run. I hope and pray she develops a compassionate character and not that she is bitter and angry that we spent so much time caring for Carmen.

Last night we decided that something has to change. We have started working on a plan. Two nights per week one of Carmen’s night nurses will be coming from 10:30pm-10:30am so that I can get out of the house in the morning. And, Dave is hoping to spend two afternoons per month working from home so that I can take Lauren out. And, a few friends volunteered to watch Carmen during lunchtime so I can take Lauren out to lunch occasionally. We are super blessed to have friends who are bringing Lauren home from school. This is HUGE. Thank you. Two mornings per week a home health aide comes and sits with Carmen so I can run around and do laundry or clean up or take a shower.

Whew. I just reread all of this and I don’t feel so good about it. But, I am going to post it anyway. I read somewhere that along with the sorrowful moments of this disease comes a surprising amount of joyful moments. (I think Eric, Rachaeli’s dad, said this!) I try to focus more on the joyful moments, particularly in my journal. Well, you are getting a taste of the sorrowful moments today!

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Every few weeks, Carmen starts having new seizures. In the past week, she has started having passing out seizures. She will be awake and her eyes will be open and then instantly her eyes will roll back and she will be out for a while. She has been doing this frequently during the day. Carmen has all kinds of seizures: myoclonic where her leg or arm will jerk for a while, tonic-clonic (grand mal) with stiffening and then jerking (Carmen has had clusters of tonic-clonic seizures for up to 35 minutes), laughing seizures, facial grimacing, and now passing out. Carmen is maxed out on Keppra and Phenobarbital, two seizure meds and takes Ativan every 6 hours. The seizures are a huge part of this disease but Carmen’s respiratory status is more difficult for us to manage.

I am asking for prayers for Avery, a sweet little girl born at 33 weeks. She had a very rough start with pneumonia and will most likely be in the NICU a couple more weeks. She is doing better now but please pray that Avery will get to go home soon! Avery’s parents lost a son, Conner, to Tay Sachs. http://www.connersway.com. Avery has a wonderful big brother named Brenden who I bet is super excited about his new sister! Congratulations to Desiree and Carl and we will be praying for Avery!

 My first thought when I heard about Avery was, “No, no, no, this isn’t fair!” My guess is that most of us with terminally ill kids have this dialogue going on in our heads that nothing more can happen to us. Like we are weathering/have weathered this storm but from now on it has to be smooth sailing. Life doesn’t seem to work that way and we are often asked to let go of everything. Hopes, dreams, expectations, health, jobs, etc. I find myself hanging on for dear life and I know that is not a peaceful place to be.

Guess who is getting glasses??? Lauren! I took Lauren to the pediatric ophthalmologist today because her eyes seem to drift inward. New York Grandma has commented on this several times so I decided to take her to the eye doctor. I was mostly expecting the doctor to say that everything is fine and for me to feel a little silly bringing her in. Well, she has a significant astigmatism in her left eye and sees 20/80 in that eye and doesn’t have much depth perception and isn’t using that eye. So, she will be getting glasses. Definitely something girly or sparkly or pink or purple. Maybe even princess! If you have a child with glasses, I would appreciate any advice on the world of glasses and kids! I got glasses in 2nd grade and contacts in 3rd but I really don’t remember much about that time.

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