Recent Test Results and Plans of Action

Recent Test Results and Plans of Action

Our trips to CHP for the appointment days over the past few weeks brought more tests, some more answers, and some more paths to travel down.  The results are starting to trickle in, and the doctor's have been calling to give their take on what we are learning, which is a mixed bag of good news and more leads.  However, so far nothing very alarming is coming back in the results, which is always good!  So, here is a run down of what we are learning, and what our current plan is to meet Elizabeth's needs based on the current round of testing: 

Gastroenterology (GI):

On January 14th, we had an appointment with GI.  I discussed the details of this appointment in an earlier post. Dr. Lindblad, the GI doctor, ordered several lab tests, as well as some scoping and stool sample analyses.  We had the blood tests drawn the day of the appointment, and we are slowly getting results to trickle in from those tests. The good news about the GI blood testing is that she is not showing any signs of inflammation, and the marker testing for inflammatory diseases of the bowel (Crohns and Ulcerative Colitis) are negative.  So, this is really good news, as both of those inflammatory bowel diseases run in our family.  There is still some blood work pending, and so far the results that are in look pretty good, except for her vitamin saturation results.  Dr. Lindblad also ordered several blood tests to take a look at how well Elizabeth's body absorbs and processes certain vitamins that are essential for growth and nutrition.  These results are especially important for us to know, especially since they are considering a high probability of putting in a G-Tube for nutritional purposes. So far, these results are showing that while she has normal levels of Vitamin D, she does not have normal levels of Vitamins A and E.  In fact, she has an obscenely high amount of Vitamins A and E in her system, and she does not take a multivitamin. We tried a multivitamin the past, but it seemed to give her more diarrhea than actually help her, so we stopped using it. So, the high levels of these vitamins could mean a few things, and one of the theories/ plausible causes is that her pancreas/ liver/ kidneys are unable to, or are not efficiently, breaking down these vitamins when she ingests them as part of her diet. We are still waiting for other results to come in, but as of right now Dr. Lindblad has laid out a plan.  The plan is to get the stool samples turned in, and to get the sweat test done that he had ordered ASAP, and determine whether or not the scoping was necessary after we get the rest of the blood/ sweat/ stool results back.  

Dr. Lindblad's office called me a few times on Wednesday (1/21)  to hash out a plan of attack.  On Wednesday, I felt like I was a secretary, because I had been on the phone 8 times with Children's by the time I left school that day. The sweat test was scheduled for Friday, and I had to move it up from the date that I had it originally scheduled in March so that it could be done before the scoping.  Her scoping is scheduled for February 23rd.  I was not planning to have to take off on Friday, but I had to take her down for her sweat test. Since I was also going to be at CHP on Friday, I decided to collect her stool samples on Thursday night and take them with us on Friday.  So, I collected 5 different stool samples and took them down.  (Don't worry... I wore gloves and followed OSHA protocol...haha)  I turned the samples into the lab on Friday, and then we waiting for our sweat test.  

The sweat test took about an hour.  No, she did not have to do aerobics with Richard Simmons or Jane Fonda.  (haha) They put a small disc on her arm that was attached via a bracelet/ armband.  Then, they collected her sweat into a small tube on the arm band.  Dr. Lindblad ordered the sweat test to rule in/ out Cystic Fibrosis as a diagnosis.  Elizabeth did well during the test.  It is not invasive and does not hurt.  Dr. Lindblad's office called us later in the day to tell us that the test was negative, which is great.  So, we can take Cystic Fibrosis off of the table as a potential explanation for some of her symptoms.  His office is going to call when they get the stool analysis results back from the lab, and we will go from there.  

Hematology:

We also found out on Thursday that Elizabeth tested positive for Factor V Leiden, which was one of the blood tests ordered by Hematology.  Factor V Leiden is a blood clotting disorder that increases your likelihood of developing blood clots, and it means that your body does not break down clots as effectively. So, as much as I didn't want Elizabeth to join this club, I am not surprised, because I also have Factor V Leiden.  Two of my sisters (Holly and Emily) and my dad also have it.  I found out that I was Factor V Leiden positive when I was pregnant with Elizabeth, and I have never developed a blood clot.  However, it is a genetic blood disease, and therefore it can be passed down.  I am still waiting to hear back from Hematology as they are expecting a still pending result to come in Monday, which would tell us if she has any other blood clotting disorder, before they make a plan for follow-up, etc.  They also want us to have Celtan tested for it.

Elizabeth, like me, only carries 1 gene for it, which is good because the form where you carry 2 genes for Factor V increases your risk for a blood clot even more.  Since Elizabeth only has one gene, like me, Celtan either has Factor V Leiden or he doesn't.  If Jason was also a carrier for it, then likely  Elizabeth would have 2 copies of the gene and not one.  Since, she only has one copy of the gene, then it is likely that she has it, because I passed it down to her.  The Hematologist, Dr. Cooper, said that it is important for us to know about this for Elizabeth for follow-up, and also because of her hypotonia that causes some inactivity.  Since her muscles are weak, she does not move around like a normal toddler.  She can't walk or stand by herself, and she is not as active as she should be at this age.  Since inactivity greatly increases your risk for a blood clot, and since she does have inactivity due to her hypotonia and muscle weakness, and because we now know that she has Factor V Leiden, then we will have to be alert for signs and symptoms of a blood clot.  It is also helpful for Celtan to know if he has it, because it is genetic.  Factor V Leiden is actually fairly common, especially the form that we have that involves only 1 copy of the gene, in people of Northern European descent, and it is hypothesized that many Caucasians have this disorder but are unaware of it.  It still is just helpful to know.  I will post more about Hematology's plan for follow up once I know more, which will hopefully be early next week.

Immunology

Dr. Larkin, Elizabeth's Immunologist, is really amazing.  When she called me on Wednesday, she talked to me for 45 minutes. It is a wonderful feeling, especially when you deal with so many doctors and appointments, when a doctor calls you back and not the nurse or another office worker.  Not that those other individuals are not helpful, but actually talking to the doctor is like whipped cream on top of a sundae, or icing on a cake, and it is much more productive. I could not believe that I was on the phone with her for 45 minutes, and this conversation was super informative and productive. 

Dr. Larkin ordered several blood tests, which we had drawn the same day as the appointment on Wednesday 1/14.  The results are slowly trickling in, and what we are finding out is promising.  The results are showing that aside from a deficient/ low level of IgA in her immune system, the rest of her immune system is pretty much working normally.  She has some numbers that are a little off of normal ranges, but Dr. Larkin said she will just watch the numbers to see what they do over time.  She ran a DiGeorge Immunology Panel, and it was normal.  Dr. Larkin explained that if she is diagnosed with a 22q11 deletion, then she has a variant of the syndrome that is not disrupting her immune system.  The counts that she is going to keep an eye on are Elizabeth's IgA level, her NK (Natural Killer) Cell level, and her B Cell levels. Dr. Larkin explained that she would like to see her every 6 months to check these levels until she is about 4.  If at the age of 4 Elizabeth is still deficient in IgA or some of the other immune system levels, then they will diagnose her with something called "Selective IgA Deficiency."  They will at that time consider if she would need immune system replacement therapy or a daily regimen of antibiotics to help keep her immune system working efficiently. The reason that Dr. Larkin wants to track these levels until age 4 is because sometimes it takes a child's immune system until that age to fully develop and regulate their levels.  So, after tracking her immune system levels for the next 2 years, if she still has deficient levels, then an official diagnosis can be made for a deficiency.  Dr. Larkin has also said that she would like me to let her know when Elizabeth gets infections, and specifically when she has another infection that requires an antibiotic.  At that point, Dr. Larkin is going to consider putting her on an antibiotic regimen maybe two or three days per week.  This is not protocol, but because she seems to want to eat less when she is sick, and her weight is a major concern, she would consider this plan of action to help her immune system work more efficiently and hopefully help her to feel better more often. 

Dr. Larkin also gave me the names of Immunologists in Boston and San Francisco.  Since we ARE going to both places this summer, thanks to the overwhelming generosity of all of you that will be explained further in another post, we want to make the most of our time there.  She has colleagues in both locations, and she is going to be contacting them to explain why she wants them to see Elizabeth.  In the meantime, I am working on setting up appointments with her colleagues in those cities.  It meant a lot to me for her not only to take the time to link me up with these physicians, and it meant a great deal as well that she is going to personally reach out them about Elizabeth.

Genetics:

We are still at a bit of a stand still in regards to the Genetics testing.  The past few weeks they have been telling me, and her doctors, that they will be releasing their decision in the next week.  Every week, they say the same thing.  So, her doctors now have their nurses and secretaries calling and faxing and doing everything they can to reinforce the importance of the microarray genetic testing for Elizabeth.  I am also going to continue to call, and her Pediatrician, Dr. Vigliotti, is also going to call them.  They have been sent numerous letters and statements and physicians detailing scores of reasons why this testing is important.  Her doctors said that the insurance companies will often drag their feet until the last day that they have to give a decision.  They have 60 days from the day that the appeal is filed, and their window of time is dwindling down, but we still do not have an answer as to whether they have decided to pay for the testing or if we have to appeal again.  Her team of doctors feel that they will win the appeal, but it is just going to be a matter of playing the insurance company's waiting game.  If we should be denied again, which is unlikely, then we will just keep appealing their decision. Ultimately, this test will help her doctors to put a name to a syndrome or disease that is responsible for her many medical issues and will then help them to be able to predict the progression of the disease/ syndrome.  If they know the progression or what to anticipate, then we will be better able to help Elizabeth as she grows older. 

In the meantime, Genetics, Neurology and Immunology are working together to get some other types of genetic testing ordered for Elizabeth.  One of the tests is a diagnostic tool for Ataxia Telangiectasia, and the second test is a FISH analysis for 22q11.  These two additional tests will help us to be able to definitely rule in or out these two diseases/ syndromes. 

Recent Accomplishments

Elizabeth is showing some big leaps in progress lately, which are so exciting for us to see.  As her support system and followers, I figured you would be just as overjoyed and excited by her recent progress.  As  you know from my last post, Elizabeth has started to try to crawl. She does not crawl consecutively, and she does not try to crawl very often, but when she does attempt to crawl we watch with delight.  She crawls in her own inchworm way, and sometimes drags her head on the floor, but it is still amazing to us that she can even crawl in any manner with all of her muscle weakness.  

She has also been wanting to hold her bottle and feed herself sitting up.  However, she can't quite get the hang of tilting her head/ bottle back enough so that she is actually getting something other than air through the bottle. She tries though, and is so determined, and I know that one day she will accomplish this task before we know it!  

Elizabeth also recently has been holding her arms up to reach for people.  She reaches the most for me, which melts my heart.  Elizabeth is definitely a mama's girl. In fact, one of the only words that she says clearly and with meaning is the word "mama."

Our Princess also has been watching Celtan with more intent.  She watches him play, will reach for toys, and she has even tried to take a toy away from him.  With her vision and neurological issues, it is really incredible that she is reaching or interested in other people, especially interested enough to want to take the toy.  Her EI therapists are pleased with this progress. 

Elizabeth also has been making a lot of vocalizations lately, and she has also be responding more to her Communication Book and using her sign language.  She is starting to use the sign for "more" when she is eating.  She also has a book with Velcro pictures on it that represent toys, songs, etc.  She will pick up the picture of what she wants, or point at it, and sometimes that is really what she wants and sometimes it is not.  However, it is a start, because since she is not saying words it is hard for us to know what she wants or needs.  She does say "mama" and makes a lot of sounds, but her speech is extremely delayed. Elizabeth also loves the song "Row, Row, Row Your Boat."  She will sit on your lap and rock, which is her sign language for wanting you to sing the song. 

Speaking of eating, Elizabeth has this week been on an upward trend for weight gain.  This means that the Pediasure must be working.  I think personally that it is a combination of the Pediasure and all of the prayers, but the Pediasure is clinically responsible for the weight gain. She did lose a few ounces towards the end of the week, but overall this week was considered a gain for weight.  So, we will take it! They will continue to watch her and weigh her, and we are continuing to give her Pediasure.  Currently, she is drinking 3-4 milkshakes a day.  The secret angel that we have that keeps sending us the lovely cards and Wal Mart Gift cards will never know how much that has helped us out.  The Pediasure is expense and Wal Mart or Sams Club are the cheapest places to buy it!  So, please know, whoever you are, that your generosity not only means a lot, but it also has helped us to pay for something that she really needs.  We are currently working to have the insurance company cover it as a prescription, and we should be able to start having it be filled as a prescription in the beginning of February. However, I don't hold my breath when it comes to the insurance company.

Overall, we are pleased with her recent progress.  It is truly a testament to her amazing staff of EI Therapists, as well as BC Bachman who watches Elizabeth for us while we are at work.  The EI Team has given us so many tips and ways to help Elizabeth grow and develop, and I can't imagine how different our story would be if I had not decided to bring them into our home when she was 3 months old.  Even though Elizabeth often takes these spurts of growth and development, and she is clearly in one now, these spurts are often followed by periods of little to no progress towards milestones.  In the times when she seems to have plateaued it helps us to reflect on how far she has come.  Even when she seems stuck, and it has been a while since was had a development burst, we look back and are amazed at our little miracle.  The fact that she can do any of these things, especially knowing what we know now, is really nothing short of amazing.  So, thank you for your prayers and support and for following us on this journey.  Elizabeth is proof that miracles exist in the world and that anything is possible.  Even when the cards seem stacked against you, there is always hope. Speaking of hope, we are hoping for continued upward progress as we look forward to a break in appointments.  As of right now, we are not scheduled to be at CHP again until February 16th. However, since we are off from school that day I booked as many appointments as possible, and I think our current count is up to 5 appointments on that day.  We will keep the faith and keep moving along until then hoping for continued progress, and weight gain, and good news.