…and my B12 worries come to an end.

Last week, hell week, the girls got a blood draw to check their MMA (methylmalonic acid) levels after their appointment with their pediatric geneticist. A few months ago we started them on an oral vitamin B12 dropper. It’s exactly the same as the infant multivitamins like Poly-Vi-Sol and Tri-Vi-Sol, but it’s specifically for vitamin B12. Prior to the dropper, I had to give them daily injections of vitamin B12 to maintain their B12 and MMA levels.

Even though we checked their levels immediately after changing from the injections to the droppers and it came back normal, we wanted to check again to make sure it was still succeeding. We wanted to make sure this was a realistic long term option to replace the injections.

If their levels came back normal, we would be able to continue giving them the vitamin B12 oral drops. If their levels came back too high, we were going to have to start B12 injections again.

I’ve been hoping, praying, crossing my fingers and wishing upon a star that I didn’t have to give them injections as a long term treatment.

Today, I got a call from the Genetics Clinic to inform me that both Peanut and Bear’s levels are beautifully average. Not only do we not have to give them injections, but the fact that they only need an oral medication means they’re processing it well enough on their own! We don’t need to inject it straight into their muscles because it’s absorbing through their digestive systems!

I’m so relieved! I’m so happy!

Healthcare Hell Week

Home. Home at last. These past couple of months have been mind-numbingly busy. Both in good ways and bad.

In November we had Thanksgiving with extended family in central Wisconsin, I got nearly all of my Christmas shopping done and I got the first half of the kid’s insanely overbooked appointments scheduled. The goal was to get all the lab tests, necessary procedures and post-surgery follow-ups done before January when our deductible started over.

December was, and has yet to be, much busier. A lot of the November appointments got pushed back to December and I found myself scribbling furiously over our marker board calendar trying to organize appointments together. Even with all of my planning ahead I still ended up at Children’s more than once a week with all three kids. I was on the phone more often than not, all but begging the receptionists to do everything in their power to help me get the appointments scheduled before the end of the year. One nice thing about going to Children’s regularly with three adorable and well-behaved children is that they’re remembered. They open doors for me that should otherwise be closed. When I mention I’m the mom with the twin girls and big brother they saw last week it suddenly sparks a friendly conversation and the receptionists will, by some miracle, find an opening by any means necessary.

This past week was my “healthcare hell week”. I got pretty much every remaining appointment scheduled for this week. I had each of the girl’s well baby appointments with their regular pediatrician (Peanut and Bear), their Genetics follow-up appointment (peanut and Bear), overnight brace fitting at Hanger (peanut), physical therapy (peanut), an EMG (peanut) with neurology which if the results come back bad would lead to a muscle biopsy. The muscle biopsy would require Peanut to be sedated and intubated. Basically, another surgery.

I had all of that between Monday and Thursday this week, with the possible surgery pending for right before Christmas.

Monday:
We had the well baby appointment. Everything went over well and we ended up visiting with four of the five pediatricians in that clinic. Because of Peanut’s extensive healthcare history we ended up in the clinic fairly often and got to get to know all but one of the pediatricians pretty well. The great thing about that is that they all confer with one another on bigger issues before referring Peanut to a specialist. My pediatrician is more of a cautious “better safe than sorry” type of person, another one is a more casual “I trust that you’re capable, so I’ll give you the necessary tools to take home”, another one is fluent in any and all rashes, birthmarks, infections and so on, and the last one is fluent in any and all illnesses and is incredibly thorough in his evaluations and makes sure the parents understand everything about a pressing issue.

It really worked out well because Peanut ended up getting roseola immediately after her immunization. She woke up the next day with this widespread rash over her whole body. I was scared it was a reaction to her immunization and called and talked to the phone nurses. They talked to my pediatrician and she suggested I come in to see her. When that didn’t work out I ended up seeing the “rash specialist”. She took one look and immediately knew it was roseola and said there was nothing to worry about. *whew!*

Tuesday:
We had a follow-up genetics appointment this day. I didn’t know really what to expect besides a retest of their MMA levels.

It turns out that the girl’s geneticist is doing a study on mitochondrial DNA (mtDNA) depletion and how it affects a few specific disorders. From what I understood from our conversation, while there are 9 genes known to affect mtDNA depletion, only 20% of those specific disorders have been connected to those genes. This leads him to believe there are yet more undiscovered genes that could be affecting mtDNA depletion.

In simpler terms, he’s attempting to discover new genes.

He asked me if I would be willing to let him use some of the skin from the girl’s skin biopsy as a part of his study. While it’s a stretch that the girls could benefit him in his study, he may yet be able to get a lead on why the girls have a b12 deficiency. So the girls are now officially part of a breakthrough study. Sweet.

Then he went on to tell me that while he’s doing research on their skin cells, he has gotten in contact with a world renown Geneticist in Maryland that is currently researching Methylmalonic Acid (MMA). They apparently talked for over an hour last week about the girls and this geneticist is very interested in the girls. He is doing  study on people between 2 and 70 on their unbalanced MMA levels. Once the girls turn 2, he wants to fly the girls and I out there to talk to me about inserting them into his study as well.

Obviously I’m aware of the adverse affects of testing directly on people when there is no history. I won’t allow the doctors to test directly on the girls, but I’m happy to let them draw blood or use skin samples on occasion if it means benefiting them and thousands of other people in the long run. I don’t expect to be asked for anything serious, but if I am, I will most likely refuse. I will wait until the girls are old enough (18 most likely) so they can make that decision on their own. They will still be well within the age range and more capable of tolerating testing.

During all of this talking, Buddy was starting to get very bored and started trying to play with the doctors and students in the room with us. Finally one of the counselors asked me if I was okay with him taking Buddy “Christmas shopping for a toy.” I laughed and said sure. About ten minutes later they came back in the room with a brand new set of ‘Cars’ themed bowling pins and balls, freshly wrapped and ready to go home with us. I gaped at the counselor and asked him if that was seriously a gift for Buddy. He laughed and said yes. Apparently they give every family one gift to go home with around Christmas. Buddy was standing proudly in the midst of all the nice doctors showing off his enormous new gift.

How awesome was that?!

Wednesday:
This day I knew would be difficult no matter how I looked at it. Peanut had to get both a surface and intramuscular EMG (electromyography). They said it wasn’t going to be pleasant for Peanut from the start and we exhausted every single other resource before we resorted to this. She had gotten an EMG a few weeks after birth as a premature infant still in the NICU. The results came back abnormal for her legs, and slightly abnormal for her arms as well. What worried us all was that she would possibly have a degenerative disease if her arms were also moderately weak.

As much as we hated the idea of putting her through another EMG, we needed answers. We needed to know she didn’t have a degenerative disease. We needed to know if she would ever walk again. We needed to know if there was any muscular activity anywhere in her legs. When we couldn’t get answers by any other means, we decided to have another EMG done on her now that she was older. Our hope was that the abnormal reading in her arm was just because she was premature and not fully developed yet.

We arrived and got set up. They were going to do both her left arm and left leg. From the very start my heart was broken and my wits were at an end. From the very first shock she was crying and inconsolable. She looked between me and the doctor that was performing the EMG, her eyes begging us to stop the hurt. She was so scared and confused. It was honestly one of the hardest things I’ve ever had to witness. It took a lot for me to try to stay strong for her and console her. Even in my strongest moments I was crying. After awhile she wasn’t crying anymore, but screaming and shaking. They only had to touch her arm and she redoubled her crying before the shock even came.

The shocks came in a series of about 3 or 4 shocks every 20 seconds or so. That went on for about an hour and a half with a couple of breaks in between at my request. At one point, she stopped crying and just laid there silently while she was getting shocked. She would periodically flinch, but besides that, she laid there quietly and calmly as if she knew fighting it couldn’t make it stop. She just looked at the doctor with wide, sad eyes. She was being so strong. To quote something I said to my friends, “No nine month old baby should have to be this strong. No mother should have to watch something like that. It was horrible.”

Then came the intramuscular shocks. They had a needle connected to the machine that they inserted approximately half an inch into her arm and leg and recorded the shock from deeper within. The needle wasn’t as big as a blood drawing needle, but it wasn’t nearly as small as I was hoping either. They had to stab her with the needle four different times on both her arm and leg.

When we finished I scooped her up in my arms and she grabbed on to me and stopped crying immediately. She pulled herself into me as much as she could and buried her face in my arm. Her grip on me was as strong as steel. She wasn’t letting me put her back down for anything. I was so sad. All I could do was sit there and hold her and comfort her. My poor little girl.

Thankfully I got the result right away. Her arms were normal. In fact they were responding amazingly well. Her legs, as I’m sure you already assumed, were still abnormal. The sad thing is that her paralysis is so complete that they found almost no reaction to the shocks at all. Her legs are almost all fat. There are only a few muscle fibers to go off of. Because of the absolute lack of any muscular response, they’re positive that she will be in a wheelchair the rest of her life. This result didn’t surprise me, but it was still hard to hear.

Because they’re sure that her arms are so strong, they decided not to do the muscle biopsy. That means no surgery right before Christmas!

They’re also unsure whether or not she will be able to control her bowels or bladder because of limited muscular response in the area. This is something we will have to wait on until she’s older and can tell us herself how well she can manage it.

The good in all of this is that we are now positive that she doesn’t have a degenerative disease. The fact alone that her arms have improved is a very strong reassurance. Besides that, everything above her hips is functioning perfectly. She is progressing amazingly well cognitively. This means she will still be able to be independent one day. She can still go on to college if she wants.

I asked them if they had an official diagnosis for her, if there was a name for what she has. After a lot of thought they admitted there wasn’t really a name for it. What they came up with was ‘Fetal Neuromuscular Aplasia’. It’s not really a specific disorder. It’s what happened to her in utero. Her nerves and muscles, for some unknown reason, stopped developing in the womb. It could be because she’s an identical twin (which we don’t know for sure) and when the cell split something ‘goofed up’ in the genes, it could be because of crowding in the uterus between her and Bear, it cold be a number of different reasons.

I also found out that it’s most likely not connected to the B12 deficiency, and it’s incredibly unlikely that anything similar will affect any future children if we choose to have more. I can’t begin to express my relief on hearing that. I felt like we had taken such a huge risk in getting pregnant twice and possibly doing something to Buddy or Bear as well. Now I can have peace of mind. They were always safe, it wasn’t our fault. What happened to Peanut was, in all likelihood, not our fault. It just happened.

Now, I’m just happy that I finally know something. I’m happy that I finally have something to call it. I’m happy that I don’t have to worry about her life expectancy. I’m happy that I feel like the scariest stuff is coming to an end. I’m happy that we’re finally getting somewhere.

Thursday:
We were supposed to have Physical Therapy. I called and cancelled saying that Buddy is still sick and frankly I’m just over my head right now. Peanut’s PT is awesome. She laughed and said that’s fine and she’ll see me next week so long as I promise to keep up with her stretching routine. Done.

As of Wednesday, we’re done with surgeries, procedures and appointments for the year. Our next appointment is next March! From there on it should just be annual appointments with each of our clinics. I’m sure we will still be there more often for accidents or random things, but it still feels so incredibly good knowing we’ve got the bulk of the legwork out of the way now.

Yet to come:
The nice thing is that after all of this pandemonium, we only have dinners, play dates and Christmas celebrations left. All of the fear and negativity is now behind us! One of our extended family Christmases is this Saturday. The only downside is that it’s a two-hour drive to get there. It will be nice to end the healthcare hell week with a family celebration.

That Christmas is one of four different days of Christmas Husband and I will be celebrating. The first being our “Chicago family”, then we’re having some more immediate family over on Christmas Eve for church, dinner and a gift exchange at our house. Then Christmas day is our personal Christmas, then the day after Christmas is Husband’s extended family Christmas at his parent’s house back home.

I think normal people would balk at the amount of Christmas celebrations and driving. I know Husband does. But I love Christmas.  I have always loved winter and snow. I think I love it this year more than ever. I need an excuse to celebrate and be with family and friends. Now more than ever.

I should quickly note that I’m seriously disappointed that we haven’t had a single recordable snow in our yard yet this year. Frustrating…

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Well then, there you have it. That’s what I’ve been up to these past couple of months. I wish I could have had more time to post blogs, but obviously my family, and moreover my sanity, comes first.

I hope you all have a wonderful, safe and happy holidays! Cheers to a happy ending to a rough year.

inconclusive… again

I just got a call from the genetics department at Children’s.  They got another test result back regarding the B12 deficiency.

It was, once again, inconclusive.  It’s so frustrating to put in so much time and effort and not get anything definitive back.  It’s all so wishy washy and it’s driving me insane.  “Oooh weeeell, it’s not really this or that.”  “we got the results back!  It doesn’t really give us any answers, but it’s not bad!”

Ugh.

I just silently give them the middle finger over the phone and continue to listen, lips pursed.

I don’t want comfort that “at least it’s not worse.”

I want answers.

The results are in!

Quick note to those of you who have been following Peanut and Bear’s tests…

B12 – The results came back from the second blood draw.  They’re NORMAL!  To give you an idea of where they’re at, the acceptable range is between 0.0-.40.  The first draw indicated that Peanut was less than .10 and Bear was .11.  The second test a week later after just giving oral B12 drops indicated that Peanut was now at .11 and Bear was at .15.  They both went up a little bit over a weeks time, but they were still well within the acceptable range which is awesome.  I’m waiting for a second call from the Geneticists office to decide where to go from here.  I personally have a feeling what we’ll end up doing is continuing the drops and doing another blood draw after a month has gone by and see where they’re at from there.  If that’s still good then test after a longer period and a longer period… If it’s too high we’ll probably have to do injections again, but so far it’s looking promising!!

Paralysis – Last week I took Peanut to get an MRI done on her lower spine to look for ANY defects.  That also came back normal!  On one hand I’m very very happy that her spine is in perfect condition, on the other I’m a little disappointed that she is still a mystery.  I was hoping to find something so we could move forward.  The “normal” result came from their radiologist that looked at the MRI.  Neurology (The department that ordered the MRI) is going to have one of their specialists look at it next to see if they can find something on the neurological side that a radiologist wouldn’t have known to look for.  They told me that regardless of whether they find something or not, it will probably be pretty miniscule in the big picture.  If the radiologist didn’t find anything major then the biggest “scary things” are already out of the question as far as they’re concerned.  (Which is a relief for me at least)  Now the doctors and specialists are putting their heads together to decide what to do next.  They said to be completely honest they’re not sure if they’ll ever be able to figure out how it happened or why she can’t move her legs.  The positive side though is that she hasn’t shown any signs of degeneration.  That’s the best we can hope for at this point.

Overall things are looking up!  I’m a little bummed we haven’t gotten very far in 6 months, but I understand these things don’t just figure themselves out overnight.  I’m willing to bet it’ll be a few years before we’re really headed in any direction at all.

In the meantime, we keep on enjoying life to the fullest!

I’m sending some prayers your way God

July 1st.

That’s the day that I had to give the girls their B12 injections myself for the first time.  A couple days before that was when they began the injections from home visiting nurses.

It’s August 31st.  Two months.  I’ve been giving them injections every single day for two months.

Every single morning I refused to think about it until I absolutely had to.  I went through the motions of washing my hands, sanitizing the equipment, filling the syringes, getting the gauze and band-aids ready and opening up a new alcohol wipe.  Then I’d head to their room with needles in my hands.

the second I walk through the door both of the girls look over and squeal and smile.  They’re so happy to see me.  I feel so guilty for what I’m about to do.

I’ve been waiting for the okay from the genetics doctor to stop giving the injections.  Once we had the results we could attempt to go down to an oral dropper of B12 and see how that goes for a week.  Yesterday I finally got the call from the doctor.  The results were in and we could try the droppers.  *YAYAYAYAYAYAYAYAAAAAAY!!!!!!*

We immediately made the necessary calls on each of our ends to make sure that a local lab could do MMA blood draws anytime for the next year and we were set.  It will take a while to figure out just how bad, or hopefully mild, their B12 problem is.  Thankfully we have it under control now though and we’re making attempts to keep them off of needles for good.

We had their first blood draw today, and we’ll be starting the oral droppers tomorrow.  After a week I’ll be taking them back to see how they reacted to it.

My brave little angels after the blood draw

I’m praying with all of my heart that their levels stay the same.  I have a feeling I’ll be losing even more sleep over the next week just praying that this works.

Peanut also has a pretty rough month coming up.  First is this B12 test run.  Then she’s got an MRI she’ll have to get sedated for a week after to check out her lower spine to try to start diagnosing her paralysis.  Then, on Sept 26th she’s got a surgery booked.  It’s a tendon release for her clubbed feet.  This is what I’m really scared for.  I’ve been trying not to think about it but I’m honestly really upset by this.  No… if I’m really going to be completely honest I’m scared to f@cking death.  All 13 pounds of her will be put under anesthesia for two hours.  I’m so terrified something will go wrong while she’s put out.  I’m scared she won’t wake up again.  She’s so tiny.  Something, anything could go wrong so easily.

I try so hard not to think about it.  When I do finally talk to some people about it they tell me to chill out and it’ll be fine.  Don’t tell me not to worry about it and they’re professionals.  That’s like asking water not to be water.  I’m a Mom for god’s sake.  It’s my job to worry and fuss.

God… I don’t even want to know how I’m going to be the day of her surgery if this is how I am now…  I’ll cross that bridge when I get there.  I have a feeling husband will be dealing with either an emotional rock or a waterfall of emotion.  Until then though, all I can do is just keep plugging along.  Work and worry.

I have a request.

For those of you that regularly keep up with our life and know the trouble the girls have been through so far, can you please pray for them?  Pray, cross your fingers, cheer, hop on one foot, wish upon a star… whatever it is you do that brings you good fortune and happy endings, can you pass that along to my girls please?  I am praying with all of my heart every single day.  That’s all I ask.  We’ll deal with the rest, but I just want them to get through all of this as unscathed as possible.

I also want to take a moment to say thanks to all of you, and thanks for following our journey this far.  It’s been a really rocky road from the start when the girls arrived, but husband and I couldn’t have made it this far without all of your support and love.  For those of you that have sent cards, money, well wishes and prayers we can’t thank you enough for your kindnesses.  Not to mention those of you who have sacrificed your own time and efforts to come and help us, babysit our kids when we’re dealing with hospital errands, given us endless amounts of clothes and toys for our kids, cooked us MOUNDS of food to help us get even a little bit of free time.  We love you all.  I truly don’t think we could have asked for better family or friends.  You are all amazing.

My Angel in the Pharmacy

I just called the pharmacy to re-order some more hydroxocobalamin.  (It’s hydrox”O”… I previously spelled it hydrox”Y”.  Just an FYI)

The pharmacist informed me that there’s a national shortage and they’re backordered for about two months.  The company who either makes or sterilizes the vials messed something up.  Not just for MY drug, but for many injectables.

OMG

I tried to keep my cool, but I was honestly… I don’t even know how to explain how I felt.  “NO”.  That’s the only word that came into my head.  Just, “NO”.  *Are you telling me we FINALLY found a treatment, and now it’s ALL GONE?!*

I wasn’t mean to her at all, but I kind of sputtered through my sentences.  I didn’t know what to say.  “So now… what am I… how…  Okay well… ummmm…”  I finally got enough out of my mouth for her to realize the girls were a little more of a serious case than the average hydroxocoalamin user.  (If there’s such a thing as an “average” patient)  Somewhere in my chopped up sentences I got out that it could be fatal if they stop using it and I asked if she knew of any pharmacy in the WORLD that had it in supply yet.  *an overseas drug shipment… there goes MORE massive amounts of money…*

She stopped me and asked how much they needed.  I said, “1 ML every day.”  Some patients need it once a week, but most need it once a month.

She paused.  “Hang on a second okay?  I need to check something.”

I wait.

…and wait.

Finally she comes back on.  “Okay, I talked to someone above me.  We have two vials in the back we can give you.”  *OH thank you GOD!*  I felt myself start breathing again.  She went on and basically told me that because of the extreme shortage they saved a couple vials of every injectable that has been affected by this shortage for patients like the twins who don’t just need it, but NEED it.  I practically threw my money at her (theoretically, since this conversation was over the phone).  At this point I will personally drop kick anyone who tries to get these vials before me.  I didn’t know if it was first come, first serve so I paid extra to just have it shipped immediately.

I now have two vials on their way to my little home in SE WI.  My girls are safe for another few weeks.  I feel so thankful my lucky stars were with me today.  I know my babies aren’t the only ones who NEED this treatment, and I pray that everyone is able to get ahold of some, some way or another.  In the meantime I need to find out what needs to be done to keep their treatment going.  Who knows, I just may have to get some shipped from overseas if the shortage gets that bad.

Oh well, whatever it takes to keep my girls happy and healthy. Right?

Good news!

Remember when I took the girls to the blood draw last week?  (Where I transformed into a pack mule..)  The results came back already today!  Normally blood work takes at least a week, and with it being right after a long weekend I wasn’t expecting it so soon!

If you didn’t read any of the previous posts about Peanut and Bear’s health issues I’ll give a short recap of everything that’s happened up until this point.

They’ve both got a vitamin B12 deficiency.  Normally it wouldn’t be a huge deal with a vitamin.  But, as a friend of mine so perfectly worded, even though it’s a vitamin it acts more like a hormone.  They have problems absorbing B12 into their bodies through their digestive system.  It just goes right through them.  It’s similar to insulin for diabetics.  If left untreated, it will lead to some very serious repercussions including spinal and muscular problems, paralysis and ultimately death.

We started treatment with a nasal spray.  Even though it can’t be absorbed through the digestive system, there are other “entry points” in the human body that absorbs stuff well.  The nasal canal, under the tongue, etc.  After a few weeks of treatment with that, they had to get a blood draw to check their MMA levels.  MMA is ‘M’ethyl’m’alonic ‘A’cid.  MMA and B12 basically balance each other out.  If one is too low, the other one spikes.  When the levels get too dangerous that’s what will lead to the previous issues I mentioned.  If I remember correctly, ideal MMA levels are from approx. X-300.  When the girls were tested the first time, their MMA levels were in the 2500’s.  Dangerously high.  That’s why I’ve been going to the hospital so much.  They were at such a high risk, something could have happened to them and killed them in an instant with levels like that.

The MMA test results came back a week later.  They were now in the 1500’s.  So that meant the B12 was improving.  The problem was that it should have improved more.  The doctor tells me that if this isn’t able to get under control, the outlook isn’t good for Peanut and Bear.  It could be fatal.  He suggested we start injections, and I begin as soon as I can get things cleared with the insurance company.  (Which of course didn’t get covered.  We had to pay a massive bill out-of-pocket… again.  I now have to work on a claim to request them to cover it.  When it rains it pours, eh?)  I got trained on giving intra-muscular injections by nurses and have it down in 3 lessons.  I complained about it and tried to make light of it, but in reality everything was riding on these injections.  I prayed daily for this to work.  It was all I could do.  I gave the injections and just prayed and prayed.  I went about my daily life and still smiled and laughed and put on my brave face.  There’s no point in worrying myself and others when I don’t know the outcome yet.  I’m trying to be optimistic.  It had to work, it just had to…

It did.

They called me today to tell me Peanut and Bear’s levels are BOTH normal.  I cried on the phone when they told me.  I just cried and laughed.  I called husband at work and told him the good news.  He’s so happy too.  We are all now thinking, “It’s treatable.”  We still don’t know why they can’t absorb B12, but it’s treatable.  What wonderful news.

Now we wait for their skin biopsy and genetic tests to come back.  They tested for three very specific genetic disorders.  The skin biopsy is a little more complicated.  They’re gonna grow the skin cells and start testing on them in various ways to see how they respond to B12 absorption after different treatments.  Of all the issues we’ve been facing, this was the scariest one.  This was the one with the “fatal” label on it looming over my head.  Now,fatal has been replaced by treatable.  There’s still risks, but I choose to look at the positive and deal with the negatives IF they come.

What a beautiful word.  Treatable.