Monday, January 18, 2010

Long, Awaited Mamush Update

I've been trying forever to get my husband to make another post.  The first reason is because I love the way he words things, and the second reason is because he knows all the medical words and explanations.  I didn't want to sound stupid, especially if some medical professional is reading this blog.  And guess what!??!  I finally get to share it today!  Enjoy!


Finally, after a lot of research and string-pulling, we saw the Pediatric Endocrinologist at Texas Children’s hospital. This was quite a battle, considering that every physician that has seen Mamush so far seems to think that he is “normal”. We found Dr. Morey Haymond who is chief of the division of Endocrinology at Texas Children’s Hospital (TCH) via an internet search and convinced our pediatrician to do the referral for us.

Today, we saw an Endocrinology fellow, followed by a whirlwind appearance by a guy named Dr. Jeha. His opinion was that Mamush is malnourished and that we can follow up in three months. Now, I know that I wasn’t the most dedicated student and didn’t make it to every lecture in medical school, but I must have missed a lot more than I thought I did, because this revelation didn’t make any sense to me at all.

Up to this point, we knew that Mamush was below the growth chart for weight. Also, when plotting his height, his dot fell in the middle of the weight chart (below on the same page), somewhere close to where his weight SHOULD be. He also has coloboma, which is a malformation of the eye that involves the pupil and the retina, making him functionally blind in his left eye; This condition is almost always associated with some type of genetic syndrome or growth abnormality. Luckily, his heart, brain and kidneys, the most frequently associated organs, all have turned out to be fine.

We had also brought along labs that I had done in my office under the advice of a friend who is a big-people Endocrinologist. Mamush’s insulin-like growth factor 1 (IGF-1) was unmeasurable. IGF-1 is produced in the liver and is responsible for normal growth. IGF-1 is only produced in the presence of human growth hormone (HGH), and therefore is a good measure of HGH levels. All of Mamush’s other labs have been normal so far including blood counts, liver functions, kidney functions and thyroid hormones.

Dr. Jeha mentioned more than once or twice during the visit that some of the same things that we would expect to see in children with HGH deficiencies are also found in children who are malnourished. He also asked several times how long Mamush had been in our home and seemed to imply that prior to his migration to the US, he somehow was deprived of nourishment. I tried to tell him that we knew that Mamush had been in the transitional home since he was less than a few months old and that there had never been any evidence that he was EVER malnourished. I even tried to translate it into big, important, pompous Doctor words so he could understand more easily. He also explained away the non-existent IGF-1 level by saying that hormone deficiency can be a result of severe malnourishment. (Did I mention that ALL of his other labs were normal? I wonder if this was a case of selective malnourishment that only involved this one hormone…..)

Now, there is a saying in medical school that if you hear hoofbeats in North America, you shouldn’t expect to see a herd of zebras. Also, I think my dad used to say something like: “Don’t pee on my leg and then try to tell me that it’s raining.” I guess if Dr. Jeha had been raised by my dad, he would have been less likely to assume that a non-existent IGF-1 level had NOTHING to do with a child that wasn’t growing.

I have to be fair to Dr. Jeha. Not that I want to, but because my wife tells me to be nice. He did concede that Mamush’s food intake had been adequate, and we had also mentioned that Mamush suffers from frequent (and rancid, in my opinion) diarrhea. Dr. J was concerned that his malnutrition might be as a result of malabsorption of nutrients from a gastrointestinal issue. He recommended that we get an appointment with Gastroenterology (GI) before we follow up. Also, our pediatrician’s records were HIDEOUS when it came to following height and weight over the past year. We agreed to see GI and keep height and weight records until the next visit. We also left with a lab order for more tests, including a repeat IGF-1 level to see if it had changed. (Dr. J obviously didn’t pay attention to the date on the current level that was drawn the previous week. I know, be nice.)

We left the Endo clinic and went to GI to see if I could flash my Dr’s Club card and get us a walk in appointment. No such luck. They were all out of town at a conference except one doctor who happened to know me…..he wouldn’t see us either. He said he was too busy, being the only Pediatric Gastroenterologist in the largest children’s hospital in the South. I think it was because he remembered me. Holly probably would agree.


We finally got to see the Gastroenterologist today. There was no fellow today, and the Gastroenterologist, Dr. Redel, arrived at her opinion faster than Dr. Jeha had at the previous visit. (I wish I could do that. It would make my days a whole lot shorter. Maybe I can take some classes from them.) The difference this time was that Dr. Redel didn’t see any zebras. She walked in the room, introduced herself, looked at Mamush and said, “That kid isn’t malnourished.” She then took the next several hours (it seemed like) to explain why she didn’t think we needed to be in the GI clinic at all. The labs this time showed a non-existent IGF-1 (again), a normal IGF-BP3 (a binding protein for IGF-1 that is also produced in the liver), marginally low prealbumin (an indicator of recent, short-term calorie intake) and a high total albumin (a protein that is a very good measure of nutrition status over the long-term). Dr. Redel said that a marginally low prealbumin is common and has no significance. She also said that Endocrinologists like to blame the GI tract for Endocrine problems and it’s not uncommon for them to get all worked up over a low prealbumin. She told us to go away. She did, however, order some more labs: a RAST panel for food allergies, a t-Transglutaminase (tTG), and a stool alpha-1-antitripsyn (both to look for celiac sprue, a gastrointestinal gluten sensitivity). All of these eventually came back normal.

After leaving the GI office, I happened to say something about that I wish I could talk to Dr. Haymond. Holly said we should go look for him. This time, my Dr.’s Club card did us some good. We were directed to Dr. Haymond’s academic offices where everyone was more than helpful and soon we were talking with Dr. Haymond. We told him much of what had gone on so far. He looked at Mamush and whatever labs we had with us. He told us that he would look into it and that he would call us. We went home feeling like we might actually get some help this time.


Dr. Haymond called the house tonight?! It’s the day after Christmas and the man has nothing better to do than to call our house? He actually apologized for not being more prompt with his followup….WHATEVER! I wish I could get that kind of customer service at WalMart! He told me that he was very sure that Mamush had some type of dwarfism and that it was likely primarily and Endocrine problem. He had looked at the labs and was sure that the low HGH was responsible for the growth issues. We discussed some details about the labs, etc. that (I hope) I already knew. I just needed to hear it from him to put it all together. IGF-1 and IGF-BP3 are both produced in the liver when HGH is present. Hormones are very tricky to figure out when there is a deficiency. Since IGF-1 and IGF-BP3 are dependent on HGH for their production, one would assume that a deficiency of the first would always mean a deficiency of the other. This is not the case. The HGH has to bind to a receptor to exert its influence. There is also the possibility that the receptors can be defective or blocked by an antibody. What we are missing is an HGH level to match up with the deficient IGF-1. Either way, we know there is a deficiency of some type. If the HGH is normal, then it’s a receptor problem and what Mamush will need is IGF-1 replacement therapy. If the HGH is low, then he will need HGH replacement. Dr. Haymond also wants a “micro-array for gene deletion” lab done. This would be to look for genetic abnormalities responsible for all of these problems. He said we can try to get it done here, but recommends that we wait to get it done at TCH, because he only trusts their lab. We will also need to get an MRI of the brain, but Mamush will have to be asleep for that, so we will also do that at TCH.

So we finally got past all the zebra hunters and got an answer.

I think I’m going to write a book for medical professionals. The title is going to be: QUACK! No, Not You, It’s a Duck, You Idiot."


  1. Whew! Just reading that was exhausting... glad you might finally getting some answers about sweet little Mamush.

  2. Wow! You all have been through a LOT trying to get some answers. I can see why you wanted your husband to do the writing. I sure hope you're able to get the follow-through you need and start a treatment course.

    P.S. I follow the (formerly) Hope blog and agree totally with your thoughts about the agency.

  3. Thanks for the update. I really appreciate it even though it was hard to understand for me. The one thought I was confused about is the dwarfism part because when my Dr. and I discussed my son's future, I thought children with GHD have a better part at catching to a normal height compared to dwarfs, mainly because of the injections... You guys are amazing and I am looking forward to joining you in the journey if my son truly has it.

  4. Good thing there's a doctor in the family! I wonder if my veterinarian husband would have made any of those connections.

    I love the "I know, be nice" comment and the book title :) I think us non-medical AP's would appreciate the info.

  5. Oh Tamara! Thanks for the laugh! And yes I wonder how many cases have slipped through the cracks. We are persistent, and I guess it paid off! :)

  6. Your husband has a gift with words. He made all those endless doctors appointments sound like a whirlwind adventure instead of the drudgery it probably was! I'm glad you are finally getting some answers for Mamush.

  7. What an ordeal! Good for you for continuing to push for answers for your son. Praying for y'all.

  8. Just finally trying to catch up on blogs. Wow! Sounds like you have gone through so much with Mamush. What a sweet boy, and a wonderful, perfect family for him! ((hugs))!!!

  9. I am so glad you are getting answers. I am even happier that Mamush has all of you! I will keep you all in my prayers.