IgG1 Subclass deficiency – beatingcowdens

Sorry if I got you too excited with the title. It’s really nothing too thrilling. It’s just – there’s more. There is always more.

I held the phone all day in hopes I would get the promised call from the rheumatologist today. Really I should know better. At this point I just want to know if I can raise this child’s medication. But, we will add that to the list of conversations for tomorrow.

Tomorrow – happening in just a few minutes. My how time does fly. And my fellow insomniacs, all with minds and hearts as full as mine will appreciate the fact that we laughed today. We actually had a case of the giggles.

It started when I called about the car. The poor, fairly new car at the “Car Doctor” continues to get worse news as the days go on.

Today’s report was that they are “at a standstill.”

WHAT? A work stoppage on my 7 month old car?? REALLY?

But they have to wait for authorization before they can ORDER any more parts.

AND, they are waiting for a “Field Mechanic” to come take a look.

How this happens to a car that 7 days ago the entire shop was swearing to me was just fine is amazing,

At least they are on the same page as I am now.

Meghan and I HATE the rental. It smells, It shakes. It’s dusty.

But we laughed at the fact that the mechanics can’t seem to fix the car any better than the doctors can fix her.

Funny what can make us laugh.

We know each other really well Meghan and I. We are very “in tune” so to speak. I guess it’s a product of being together so often in so many precarious situations.

So as we walked up to swim practice again tonight she complained of pain in her neck. That was weird.

I touched it – checking for lymph nodes. Nothing obvious.

She swam the first 50 yards and looked weak. The coach motioned for me to come to the deck.

She told me Meghan said her throat was scratchy and dry and she was having trouble breathing.

Meghan told me she was GOING TO finish practice and she was FINE because she LIKES practice.

I stepped back from that level of determination. The coach agreed to let her swim if I was close by and we both watched.

She swam until 6:05 after taking 1st place in her 50 free heat during the mock race at practice (and knocking off about 8 seconds from her time a few months ago) the coach told her to go.

Only ten minutes left in practice anyway, reluctantly she agreed.

And I can swear to you as we walked up the steps to exit the pool that is where the speeding train plowed right through her.

That was it. She was talking and then all of a sudden she was telling me she was swallowing nails. She was pale.

It happens that fast. This isn’t so much the Cowden’s but the weak immune system. The IgG subclass deficiencies, the missing mannose binding lectin. From winning her heat, to flat on her butt. That fast.

So we drove home and she showered. We talked about the pros and cons of urgi care at dinner. We had the conversation more for something to talk about. We all knew she had to go.

So we even have a “regular” doctor at the urgi care, who knows enough history not to badger us with silly questions. He dove right in for the strep test. He dug into her throat and patiently watched for that second line to appear. And finally – close to the 5 minute time frame, he walked over and said to me “here it is.” Faint as anything, but it was there.

“Smart Mom, by tomorrow she would have been a mess.”

I know. I know, It’s that fast and that hard. If I wait – it gets ugly.

That’s the scoop on Strep Throat – from a family that has seen a lot of it. We thought we were rid of it when the tonsils left.

We forgot that Cowden’s patients can regrow their tonsils. So the tonsil tags forming again in the back of her throat are little disease mongers.

The first dose of antibiotic went in around 10. The second one will be tomorrow morning.

Tomorrow she was supposed to be at Bible School. Tomorrow she will accompany me in the rental to Manhattan again for my follow-up with the breast surgeon.

I hope its quick.

She has PT at 1, and the orthopedist at 2:30.

No rest for the weary. Have to check on that hand.

I have this delusion in my head of what a Saturday should be. I think sometimes about getting up – not at the crack of dawn, but at a reasonable hour. Getting a quick breakfast and jumping in the car to head… well wherever we want to go. I think about spending Saturday as a family. Worry free. Relaxing together. Sharing an adventure.

Then there is reality. It has a way of biting you in the behind when you aren’t paying attention. (Or when you are practicing active ignoring.)

Reality is that we have two working parents in this house. That same reality that allows us to pay for the medical bills that creep up, and the fun stuff like vacations, is the same reality that means Saturday afternoon adventures are uncommon. Well, almost unheard of anyway.

I have a grocery shopping routine – down almost to a science. About every 3 weeks on Friday night, I go on the marathon. I stop at Costco, and run home with what we need. Then I head to Wegmans in Woodbridge, and Whole Foods in Millburn. The whole journey is about 40 or so miles, and it takes about 6 hours from door to door. Then there is the unpacking…

Why?

Well food sensitivities have kept Meghan gluten, dairy, and soy free since she was about a year old. She is also very sensitive to dyes, preservatives, nitrites, food coloring, and the like. Her diet is pretty much pure and organic.

Local shopping is not as plentiful as that over the bridge, and prices are flat out better there. So, last night as we undid the (ridiculous amount of money) worth of groceries, and I put a soup in the crock pot for today, I was about to fall over from fatigue.

The piles of laundry already covered the basement floor. The beds would need to be stripped in the morning. The bathroom was in dire need of a cleaning after my husband repaired a pipe that burst under the bathroom sink. I thought about shutting down the alarm and just letting my body do the talking this morning. I thought about it for about 3 minutes.

Then I took a flashlight into Meghan’s room. I covered her eyes and looked at the sores on the right cheek of her sleeping face. My heart sank. I turned the alarm on. I knew where we had to be in the morning.

In addition to having Cowden’s Syndrome, Meghan suffers with an immune deficiency. Well, technically speaking probably more than one. She is IgG subclass 1 deficient. Her body doesn’t seem to remember how to fight infections. She is also Mannose Binding Lectin deficient – a whole other element of the immune system – just absent.

Usually she holds her own. She takes a HOST of vitamin and mineral supplements. She eats that pure and largely organic diet I spoke about, and aside from seemingly chronic fatigue, she does OK most of the time. She can’t be running around too long or too often. She can not be over stressed. These things wear her out, and then we have trouble.

When she was just 6 months old she was first hospitalized with an infection of Herpes Simplex 1 (fever blister) on her right cheek. It was odd the location it started. It was in the middle of her face. Before we knew what it was it had become cellultis, and we spent a week in the hospital. The first 2 days were the scariest as the blister kept increasing in size. Eventually my pediatrician at the time called in an infectious disease specialist (my pediatrician now,) who swiftly diagnosed the herpes simplex, and began IV acyclovir. Within 24 hours things calmed down. A week after we were admitted, we got to go home.

However she never, despite a few miserably failed attempts, got off the acyclovir.

She spent another week in the hospital at about 20 months, treating an aggressive outbreak.

At one point we slowly weaned her to 500 mg a day only to have her develop a very painful trigeminal neuralgia which the oral surgeon wisely explained was caused by the herpes virus taking up residence in the trigeminal nerve in her face.

We promptly went back up to full dose, only to watch the pain fade away in a few days.

We have seen minor outbreaks through the years – usually nothing more than a red mark to indicate its time to do something. We have slowly watched her dose of acyclovir be increased. Currently at 80 pounds she was taking 1400mg a day.

We worry about the liver. About whether there are long term effects. But there really is not a choice.

That’s why as I shined the light on her face last night I knew this morning would involve a trip to the pediatrician.

We arrived bright and early and as he greeted us warmly he sized up her face in one brief glance.

“I see our old friend is trying to make an appearance. Raise the acyclovir to 1600mg. Move to 3 times a day to help it get through the system better. Take a picture every morning, and call me if it doesn’t improve. I will see you in 2 weeks.”

We stopped at CVS. We texted a friend’s mom for a play date. Then we got home at about 11:30 – drained.

Felix was working to bleach the bathroom – a job my asthma doesn’t allow.

There were human beds and dog beds to wash. There were floors to clean, and dishes to do. There was spaghetti sauce and some gluten free cookies to make.

As I heard the sound of giggling girls from behind Meghan’s closed bedroom door – I took solace in the fact that at least she had an adventure today. Even if it was in the house.

Cowden’s Syndrome and the immune system don’t seem linked on paper. But, anecdotally I hear of issues from every Cowden’s patient I correspond with. What goes on in our bodies to make it just so hard to put a virus to rest?

One child. One diagnosed genetic disorder on the tumor suppressor gene. A mannose binding lectin (a protein) that is also missing. An IgG subclass deficiency. Metabolic errors still being unearthed.

And I was looking for an adventure?

I should be happy and content with the Saturday cleaning. It is the most rest we seem to get!