Monday, February 2, 2015

Rheumatology Visit

Nicole saw the PA at the rheumatologist office today.  It will be four years this month since she was diagnosed with benign hypermobility joint syndrome (BHJS).  BHJS is a common source of joint or muscle complaints.  It describes looseness of joints that may be associated with daytime pain, nighttime awakening, or discomfort after exercising.  It is also characterized by double jointedness.

The rheumatologist was the one who got Nicole into pulmonary rehab by suggesting it so I could suggest it to her PH doctor.  When Nicole first starting see the rheumatologist she was Vit. D deficient.  She has been on 4,000 IU's of Vitamin D for almost four years.  She was given a prescription to get it tested and we were told that they like it between 60 - 80 and about seven months ago it was 52 so she may be able to go down to 2,000 IU's even though she tried this before and her Vit. D level fell down and she had to go back up.

The rheumatologist has been reluctant to treat her with any medication because of all the other medications she is on.  Today, she was given a sample of a new type of topical cream that she can try for her pain.  Nicole also thought maybe it would help with her site pain.

We will see how this works as I forgot to ask but I am sure that it is by prescription.  She will see the doctor again in August.

The date is Tuesday, Feb. 2nd, 2010

This is the day we will be "officially" told that Nicole has pulmonary hypertension and exactly what her congenital heart defects are.   This would be done with a right heart catheterization. This procedure is evasive and a catheter is inserted in the groin and then wound up to the heart and the pictures are on a screen.  This can also be done through the arm or through the neck.  Nicole has only had it done in the groin.

If I recall correctly, we left our house around 3:30 a.m. to head to Tampa which is an hour and a half to an hour and forty-five minute drive.  We also have to take in account that we are not familiar with the area.

I know that Nicole is extremely nervous and is crying.  I can't imagine what this must have been like for her.  The feelings that I had being her mom are different than what she had because it is her.

It turns out we were late because we were given the wrong time on the paperwork. One of the nurses made me feel like we were at fault but I know we weren't.  My father-in-law made the drive over (basically behind us).  I'm glad that he was there for moral support for Rick.  A lady from our homeschool group had told me that she was going to meet us at the hospital.  We were not what I would call "friends" but we were friendly.  I really didn't expect her to show up but after the pre-op and Nicole was taken she was in the waiting room.  Her and I went to the cafeteria during Nicole's procedure which I will always be grateful for.  It kept my mind occupied and I didn't worry like I would have just sitting in the waiting room.

After the procedure while Nicole was waking up and recovering the doctor came out and told us she didn't respond to any of the tests that they perform during the cath.  Her pressures were high and she had severe pulmonary hypertension.  The damage that had been done to her lungs was irreversible. He also said they couldn't close the holes in her heart  because she would die.  I'm not sure why they put her "under" during this as it is very dangerous to do so.

It was time to start treatment for her pulmonary hypertension.  The first drug was oral called Revatio which is Viagra.  She would be monitored for 24 hours taking this to keep checks on her blood pressure as this drug will lower your blood pressure.  They were also going to get Nicole started on oxygen therapy.  A respiratory therapist came in and went over how to use the tanks etc.  She also told us who would be meeting us at our house when we arrived home to get her set up with oxygen in the home.  I believe we left late on Wednesday afternoon and the respiratory therapist met us shortly after we arrived.

Since this date Nicole is on the maximum amount of therapy for her PH which is three drugs.  She has had two other heart catheterizations to check pressures and how well the medications are working.  Fortunately, these have been here at the children's hospital so we haven't had to travel.  The cardiologist who does these always makes Nicole spend the night just as a precaution.   She can't move for about four hours or so after the procedure.

Wednesday, January 21, 2015

The date is Friday, January 22nd, 2010

We arrive at the cardiologist's office. The nurse does an EKG and then we're told she will be having an echo. The person who did the echo was awesome and put both Nicole and I at ease.  I will always be grateful to her.

After the echo was done the doctor comes in.  He was very nice.  We were told a lot of information this day and this is the day our whole life as we knew it changed.

First we are told that Nicole had been born with a large 2.4 (or so) cm hole in the lower chamber of her heart (ventricular septal defect VSD) as well as several smaller holes (referred to as swiss cheese holes) also in the lower chamber of the heart.  I don't remember if the hole/flap in her upper chamber (atrium septal defect ASD) was discovered this day as it is very hard to see on an echo.  We were also told that because of the lack of diagnosis  she developed Eisenmenger's syndrome which is a rare progressive heart condition that occurs mainly with VSD's that aren't diagnosed which causes reverse shunting of the heart.  This causes the oxygen rich blood that should be going to the lungs to go to her extremities instead because of this lack of oxygen in her lungs she has blue/purple fingernails and toenails.  We were also told because of these congenital heart defects she also developed pulmonary arterial hypertension (PAH/PH).  I had never heard of this but I knew enough medical terms to know it had something to do with lungs, arteries, and high blood pressure which it does.  Basically, your lungs have a blood pressure (not associated with your blood pressure that's taken at every doctor's appointment)  PH causes the pressure within the lungs to rise which causes the arteries in the lungs to narrow and close.

We were told there's no cure and it's usually fatal.  The only "cure" (which isn't really that) is a lung transplant which in Nicole's case would have to be a lung/heart transplant.

We were told that she wouldn't be able to work and hold a full-time job.  That the medications available to treat the disease would only slow and maybe stop the progression of the disease but not reverse it.

We were told that Nicole would never be able to get pregnant as the stress on her heart could be fatal.  We were also told should would have to get routine monthly blood work, be on oxygen at least at night while she slept and while she's home for the rest of her life.

We were also told that to be "officially" diagnosed she would have to have a right heart catheterization which would mean driving to the children's hospital in Tampa.  This will be another blog.  The doctor was confident though that this was the diagnosis because the pressures were severely high.

Five years later.... Nicole is twenty years old now.  She is getting a Bachelor's of Fine Art in Illustration online and is an incredible artist (yes.... I am bias)!!!!!  She is on oxygen now 24/7.  She is on a triple therapy regime for the treatment of her PH which includes two different oral meds as well as a continuous medication that she receives through a catheter in her skin through an infusion pump. About once a month she has to change the site usually because of infection and when she does it causes great pain for the first seven to ten days for which she must take narcotics to control that pain.

She has to get a monthly pregnancy test which is a requirement by one of the medications as it is known to cause birth defects.  She also requires a whole slew of blood work every three months to keep tabs on her platelet count (which is chronically low), her red blood cells, her potassium levels, her magnesium levels etc.

She sees her PH specialist every three months; her primary care physician every two months; she sees a rheumatologist for benign hypermobility joint syndrome which is also something she has had since birth which was diagnosed in 2011 every six months; she sees her psychiatrist for OCD and generalized anxiety disorder that was diagnosed in 2004 every three months and she is monitored at the University of Florida Congenital Heart Clinic as well as the Lung Transplant program and goes there  for pulmonary function tests and other lung function tests as well as a EKG and echo every six months.

I am so very, very grateful that the medications keep her stable, however, the side effects cause their own problems from chronic low platelet count to chronic nausea, diarrhea,  joint pain, site pain and dizziness among others.

We always tell Nicole she is one in a million because when she was diagnosed with PH I believe the statistic of children who diagnosed with  this disease was 1 in 2 million.  Both PH and Eisenmenger's are rare diseases according to the National Organization for Rare Diseases (NORD) which means less than 200,000 Americans a year are diagnosed.

The medications for PH are considered orphan drugs because they are rare they are extremely expensive. Nicole's infusion medication alone costs more in 2 months than my husband makes in a year. Fortunately, since Nicole is on disability the insurance she currently has covers all her meds with no out of pocket costs.  I thank God for this everyday.  She loses her insurance later this year and will have to switch because her insurance is for chronically ill children up to 21 years old.  So I don't know if new insurance will cover it without a co-pay.

While our lives were changed forever this day I am grateful each day for Nicole, the doctor's, the medication etc.  I still have trouble understanding how a congenital heart defect wasn't diagnosed for fifteen years.  If it had been diagnosed she wouldn't be sick like she is.  I guess this is something that God doesn't want me to understand.

Tuesday, January 20, 2015

The date is Thursday, January 21st, 2010 .....

I had waited a month to get Nicole into  the pediatrician's office under the guise of an annual check-up.  Nicole has been with this doctor's office since she was four years old and she's now fifteen years old.  The doctor that was with and treated Nicole for pneumonia and her hospitalization when she was a month shy of five years old left the practice shortly after this.  I had seen that he had returned.  I wanted to specifically see him and would've waited however long it took.

This doctor had always listened to me and I hoped he would again.  I told him  I was here for a specific reason.  I explained Nicole's permanent purple fingernails and toenails, her lips turning blue when she was cold or over-exerted herself.  I explained how she couldn't ride a bike to the entrance of our subdivision (up a slight incline) without having to rest and the shortness of breath with just walking.

He checked her vitals.  He also put a pulse ox on her finger.  That isn't a normal part of a check up and I don't recall having this done at all since her hospitalization for pneumonia ten years prior.  It really should be part of every office visit just like height, weight and blood pressure.  It would have been a tremendous help in Nicole's case.

The pulse ox read in the 83 range.   A pulse ox measures the amount of oxygen in the blood.  A normal, healthy person should have a pulse ox of 98-100.  The doctor asked his nurse to get another one as he thought it was broken.  The second pulse ox said about the same thing.  The doctor then had Nicole wear some oxygen for a few minutes.  I don't remember if this changed her number or not.  I will never forget him looking at me and saying "this isn't good...."  They also pricked her finger to check her hemoglobin which I don't remember if it was high, low or normal but I don't believe it was normal.  The doctor said she needed to see a cardiologist  He asked if I wanted him to set it up and I said yes.  Later that afternoon I got a call from the cardiologist with an appointment for the next day...

Wednesday, January 7, 2015

Appointments, lab results and pump problems

Happy New Year!!!!!!!!  I hope 2015 is the best year yet for you.

Nicole saw the hematologist on Dec. 30th.  Her last visit prior to that had been Oct. 31st.  She had a lot of blood taken at this appointment in Oct. All of this lab work came back normal.  I had a feeling going into this appointment on Dec. 30th that there is really no reason to keep seeing him.  There is no clear cut reason or answer why she has a chronically low platelet count.  We know if she ever needs surgery she will need a platelet transfusion.  The doctor did say that her previous diagnosis of idiopathic thromocytopenic purpura (hoping for correct terminology and spelling) was wrong and her immune system isn't attacking her platelets.

The only issue was her IgG was low but not low enough for infusions.  He was going to test it again which he did along with some other immunology tests but no follow up appointment was made.  I was not surprised.  They were suppose to call with the results.

The hematologist believes that her Eisenmenger Syndrome is the cause of her low platelet count.  I have never heard this before which I would think a congenital heart defect cardiologist would know and neither one of her CHD doctor's have every mentioned this.  The first hematologist Nicole saw said it was her medication and while I know it does contribute it wasn't  the reason as her platelet count was low upon diagnosis.

Nicole was having pump issues the week of Christmas and the week of New Year's.  The majority of the time, at least for Nicole, these occur while she's sleeping.  The first time was Christmas Eve day at 9:00 a.m. but she didn't tell me she obviously unkinked the tubing and the pump was working again.    It alarmed again at 1:00 p.m. and wouldn't stop alarming so we had to call  Accredo (the specialty pharmacy)  and speak with a nurse.  The nurse had her unattach the tubing at the site and clean off the tip with alcohol as sometimes the Remodulin builds up and I believe we were told it gets sticky and will gunk up.  This seemed to work and got the pump to stop alarming and go back to running.

On Monday, Dec. 29th Nicole's pump malfunctioned with blockage detected twice within a five minute period  at 4:20 a.m. and she was able to clear it by running her fingers along the tubing.  At 7:35  a.m. it started alarming again and she couldn't get it to stop so we had to call a nurse at Accredo. He had her check for kinks and then had her push some buttons on the screen of the pump and it went back to running. After this Nicole believed she found the kink so we went ahead and changed the tubing. At 10:45 a.m. the pump goes off again for blockage detected and wouldn't stop so called a nurse again.  She was able to get the pump to stop by having Nicole check the tubing and hit some buttons but she did say if the pump went off again then she would need to change the pump and if it still alarmed she would have to change her site.

On the 30th Nicole said her pump went off again at 4:00 a.m. and she unattached and reattached the tubing at the site  and it stopped.

On the 31st when we went to change the pump the pump that we were switching too wouldn't display properly and was going into setup which is something the patient shouldn't have to do.  Had to call a nurse again and she had to walk Nicole through the set up process which she was relunctant to do. I believe she was the same nurse we had spoke with for one of the times we had called with this batch of pump problems.  It didn't work the first time because the nurse told Nicole to program in 0.000 and it should have been her pump rate that went there and this is why it didn't work.

Since this time she has had no problems with the pump.  However, Nicole started a new vial of Remodulin on Monday and it leaked and I thought that it was because it was the first draw or the syringe was inserted crooked but yesterday it leaked also because it was on my hands as well as Nicole's.  I will need to call a nurse today to see what we should do.

Yesterday she went back to pulmonary rehab for the first time since Dec. 18th.  She did complete her full routine but did have some chest pain.  On the way home we stopped at the hospital where she gets her blood work to pick up the lab results from Oct. 31st (the hematologist) ; 12/4 (her normal monthly blood work) and 12/30 (the hematologist).  I knew what her results from 10/31 were all normal.  I also knew what her blood work results were for 12/4 and was a little ticked off that her potassium was low and nobody from the doctor's office told me so her potassium could be adjusted. No real surprises.  I was suppose to get a call from the hematologist office with the lab results from 10/31 and surprise no call.  I did look at and compare the IgG to her last test in Sept. and it is still low but not as low as in Sept.  Her iron was tested as I believe the doctor thought she was getting too much iron (which in my opinion was doubtful).  Her ferritin level was suppose to be checked but I only saw iron/plasma and I don't think they are the same thing.  Her iron saturation percent was low. I'm not sure what this means.  Her platelet count had taken a nose dive between 12/4 and 12/30.  Hopefully it will go back up this month.  Her reticulocytes which is related to red blood cells were all high just like in Sept.  which I was told was no big deal and actually were good.  Her IgG was still low but went up a bit since Sept. The IgG subclasses were tested and of the four only subclass 1 was low... not sure what this means either but it looks like it could be related to DTP levels which were tested in Oct. and they were normal.

Nicole sees her PH doctor tomorrow so I need to sit down today after calling Accredo, and rescheduling a doctor's appointment she has next week and write down the list of questions we have for him.  

I am also waiting on her last echo which she had done in August 2014 at the University of Florida to be faxed to me as none of the doctors ever send copies of any tests to each other.  It seems that I am always the one to have to get these and distribute them accordingly.

Friday, December 26, 2014

Miscellaneous Ramblings

I hope that everyone had a wonderful Christmas.  Ours was low key this year but I always enjoy the time with family.  I also like presents too but I can live without them :)   The one thing that I want more than anything else is a cure for Pulmonary Hypertension and so far that hasn't come but I believe it will.

Every morning I watch Joyce Meyer and this morning was no exception.  It was a re-run I believe but I always learn something new or if I am struggling with some area a show pertaining to that will air. It's a little freaky sometimes.

This morning's show was about Trusting God When You Don't Understand.  This is something I always have to remind myself.    There was a segment with a couple who had lost their young son (under 5 years old) to a rare genetic disorder which at this time is incurable.  The mother stated when she found out that she was pregnant with him she prayed that he would not only be a blessing to them but to others as well.

I can so see the blessing that Nicole has had in our life.... I have learned so much from her and she is truly my hero.  I also know that she is a blessing to others as well either through her illness and the PH community as well as the way she lives and copes with it.  She is also a blessing through the beauty of her artwork.

As I watched this segment (which I have seen before) with tears rolling down my face I thought about Nicole and how I don't understand why not so much that God allowed her  to be born with congenital heart defects but more so why were her health issues misdiagnosed for 15 years.  I am in awe everyday of the things that could have happened and I am most grateful for God keeping her safe.

Unless you are a parent of a chronically ill child, and it doesn't matter if the child is 2 or 20 they still are your child, it is harder to grasp the struggles that a parent goes through everyday.  It is absolutely heart-wrenching to watch your child suffer. The hopelessness and helplessness can be overwhelming at times.  There is one particular person that was such an influence after I heard her speak about her struggles with her son less than a month prior to Nicole's diagnosis and I just couldn't wrap my brain around the strength and courage that she has everyday. She was and continues to be an inspiration to me.

I truly believe to the depths of my soul that if it wasn't for Nicole's illness she wouldn't be the artist that she is today.  Her artwork is incredible and I am so proud of how she continues to grow and do things that she never would have thought she could do.  The first time she drew a face, the first time she drew a figure etc.   I see the passion in her eyes when she completes  a piece that is she proud of.

My heart goes out to those parents that have lost children and I never, ever want to experience this and I hope that God will spare me this pain but I know if I had to choose to either live my life without Nicole or have her live her life without me I would rather live without her.

As we end 2014 and move into 2015 I would love to see a cure for PH but short of this I would love to see Nicole to continue to grow in her passion of art.  I would also pray that she remains stable and that the medication that she takes even with all of it side effects and chronic pain will continue to do this for her. I pray for continued good health for myself and the rest of my family.  It is very frustrating and stressful dealing with a chronic illness whether it is for yourself or for a child but I pray that I will continue to provide that support and love for Nicole for as long as she requires me to do so.  I would do anything for her and if this is what I need to do I will.

I would love to see others be more compassionate in regards to someone who is disabled either through a chronic illness or through injury especially when their disability may not be "visible" to the naked eye.  I would love to see others think about how they would want someone to hold a door open because they are pushing a person in a wheelchair or are struggling carrying a child etc.  I struggle everyday with being judgmental because something looks different than what it is .... I can tell you that God has really opened my eyes to this  A LOT since 2010 and continues to do so.   As Joyce Meyers says "I'm not where I need to be but thank God I'm not where I use to be."

I wish everyone a happy, healthy, safe and prosperous 2015!!!!!!!!!!!!

Monday, December 22, 2014

Frustration with reordering medications......

Just spent 45 minutes on the phone which included being disconnected once in the midst of transferring me.

I have to get Nicole's medication through a specialty pharmacy and they are shipped via UPS monthly.  We get three medications through this pharmacy two of which are oral medications and the third is her continuous medication which she receives subcutaneously through her skin via an infusion pump.

I know how much medication I have left when I call so I start with her Letairis which she will run out of first on Dec. 29th.  The customer service representative is suppose to ask certain questions like did she have her monthly pregnancy test etc. and she didn't.  They have their own calculations of when she will run out and most of the time with the orals we are in sync.  She says I can have this delivered on the 29th.... I said "she runs out on the 29th and I don't want to receive it on the day she runs out" and she replies "well there is a holiday" and I reply "on Thursday".  She then says she will have it delivered on Friday the 26th.... this is much better and I will take this.  I realize that I should have called last week to have this set up but they should have called me saying it was time to reorder and to my knowledge they hadn't.

The second medication she was also suppose to ask questions which she didn't.  I asked her how many tablets Nicole had based on their records and it was what I had which was enough for 13 days including today.  She said do you want it delivered on Friday with the Letairis and I said sure if you can but I don't think you will get insurance approval.  She said sure I do this all the time.  She then says I will have it delivered on January 2nd.    I then asked her to reorder the Remodulin and she says she has to transfer me (usually the same c.s. rep will do it all)  while she's transferring me she disconnects me (at least she called me back).  During this "hold" time I count out 13 days and find that she will run out on the 3rd.... I am not waiting until the day before she runs out to get her meds.

I get another c.s rep who is going to do the Remodulin but before she does this I tell her I need her Adcirca for a sooner date than the 1/2 shipment.  She said the rep is entering it now and puts me on hold.  She isn't able to contact the rep so she is going to fix it herself.  She changes the date to the 30th which is still a little to close for comfort but I will live with it.  She then says she wants to confirm that the Letairis will be delivered on 1/2 and I said "no" she runs out on the 29th.  I am so glad that she confirmed this or I would have been speaking to a supervisor on Friday.

She then tells me that it is to early to re-order the Remodulin which means I have to call twice a month to reorder her medications.  I will call back on the 31st to reorder.   I have re-ordered all her medications even when they are a couple of weeks out for the last 4 years.

When I call back I will also find out if I can get a email or something from UPS stating that I will receive a shipment so I know that it was shipped when it was suppose to be.

This is so frustrating and this is where most of it comes from on a monthly basis is from the pharmacies.