Saturday, October 2, 2010

Metabolic appointment came earlier than expected...

Samantha wasn't supposed to see Dr. Falk at CHOP until October 22nd. However, they had a cancellation this week so she actually was seen this past Tuesday.

Dr. Falk and her assistant Emily were great. They were wonderful with Samantha who warmed to them immediately (very hard to do nowadays if you are a doctor).  They spent over 2 hours with us, gathering information and then providing their opinion to us.  It was a very informative appointment.  Dr. Falk seems very knowledgeable in regards to mitochondrial disease. If you google her you'll find that she's done research, written articles, and spoken at the national mito conference. We were looking forward to speaking to her about Samantha and came to the appointment armed with a list of questions. We were not disappointed.

To sum it up, Dr. Falk feels that this is definitely mitochondrial in nature. In fact, she thinks it is "Leigh's Disease"(one of the the few "named" mito disorders). Before our friends and family race to google "Leigh's Disease", I must warn you, the general information regarding Leigh's on the Internet is very, very scary.  Horrifically scary, in fact.

However, Dr. Falk feels we should not be "doom and gloom" regarding Samantha as, in general, Samantha is doing quite well considering the severity of her underlying issues.   For Val and I, we aren't really sure we need to call it "Leigh's" as that doesn't really tell us anything right now in terms of Samantha's future/prognosis.  According to the Doctor (and all of the doctors we've spoken with so far), the only way to know for sure how Samantha will do going forward is to see how she does going forward. There is no set course or prognosis with these things. In general, they do tend to get worse and be "progressive" and horrible. However, there are many examples of children not following a set pattern and who wind up doing better than anyone would have guessed.   Therefore we will continue to take one day at a time and enjoy every moment with our sweet girl.

In addition to discussing her opinions on what Sam's diagnosis is, Dr. Falk gave us some suggestions on supplements/vitamins to start for Samantha. A vitamin cocktail is the only widely accepted treatment available right now for children with mitochondrial disorders. Some parents do notice a difference once their children start taking the vitamins. Other parents don't notice a huge difference but keep the kids on the supplements in a "can't hurt, might help" type of way.

Dr. F  is also going to provide us with an ER letter for the future.  In the event that Sam needs to go to the ER for an emergency, this letter will alert the staff on how best to treat her.  She ran a slew of blood tests on Samantha that day (poor baby got another stick). If the tests do not pinpoint the "cause" of the mitochondrial disorder, Dr. Falk would like us to get a muscle biopsy. However, we'll also talk to Dr. Cohen in Cleveland about that as well. We are still undecided as to if we want to do the biopsy. Unfortunately, the biopsy results will not offer us a "cure" or help Samantha much in the immediate future. However, in these situations, the more knowledge we have, the better. In the event that there is a specific treatment or trial that becomes available, we may need to know the specific information a biopsy would provide in order to know if the treatment would be appropriate for Samantha.  More information may also give us a clue as to a more specific prognosis for Samantha.  Unfortunately, there is no guarantee a biopsy would actually give us more information--so it a tough decision to make.

Dr. F would like to follow Samantha, and we are happy about that. We really liked her and hope that she'll be a part of Samantha's team for the long haul.  Definitely a tough, but necessary appointment.  I'll be very curious to see if anything "turns up" regarding the blood tests.

In other news, Samantha is sick again with a cold this week. It is not as bad as last month. However, her choking has increased again. We try so hard to avoid sickness.  We are not certain if the progression in her brain lesions were caused by a sickness (I suspect that this "thing" can progress without reason or sickness). However, it is documented that many, many children with mitochondrial disorders do regress/get worse with sickness. A simple viral infection can cause havoc in a child with mitochondrial disease.  So as much as we can, we have to avoid Sam getting sick.  As she's a kid, and a thumbsucker, this is a tough task.  We try hard to keep her hands clean. Hand wipes and sanitizer abound at our house. One of Sam's favorite activities is standing on her stool to get her hands washed at the sink. Yes, she toddles over to the sink, climbs aboard and says, "Hans" with a big cheeky grin on her face.  Apparently, our heroic efforts at hand sanitizing are continuing to fall short as she is sick again.  Perhaps we should just put her in a bubble?   It's a tough balance of keeping her germ free while letting her actually have a life.

Until next time,



  1. This comment has been removed by the author.

  2. I'm so sorry to hear of this appointment. I'm sure it must not have been easy hearing the possibility of leigh's from the professionals, but I must say, I think your view on the information is wonderful! Samantha couldn't be better taken care of. It's best to approach this with a positive attitude and you are doing just that! I hope that more answers come from these tests. Thanks for updating us.

    Sorry bout the previous post, wouldn't let me edit.

  3. (((Monica))) Always tough to think about future stuff with our kiddos BUT you definately have the right attitude with the possiblity of this diagnoses. The muscle biopsy may not tell you much more in your case, as they already feel strongly she has Mito but I like to cover all basis! The pathology on the muscle tissue was essentially normal with Jack, its the ETC testing that confirmed Mito besides some wonky labs.

    Its good to see her doing well and climbing up on a stool on her own is GREAT! Jack still has trouble with climbing/balance! Sorry about the cold, praying shes back to herself soon, hugs to SAM :)
    Heidi & Jack.

  4. Thanks Ladies.

    And Heidi, the stool climbing is a very new skill for Sam! She seems so proud of herself too. She holds on for dear life to the sink as she does it, and still isn't very stable with it. That's why I keep the bathroom door shut now as I'm afraid she'll hurt herself if I'm not right there to help out. I'd say she has about 1/2 inch of growing before she can open the door on her own though. Perhaps more "toddler" proofing is in our future?