I talked to Dr. Sidransky at the NIH, and she sounds like a very impressive and passionate doctor.  She has been studying GD2 and GD3 for many, many years.  They really want to see Hannah since she this new mutation is pretty rare and never seen in combination with the 84gg.  Because the D409H carries cardiac problems associated with it, she agrees that we need to have an echocardiogram for Hannah as well as check for minor hydrocephalus.  They also want to do the skin biopsy to see if they can tell type 2 or type 3 as well as a couple of other studies.

The problem is, we would have to be there for 3 days.  Granted, the trip would be fully paid for, but that is three days that Ethan and Abby would be without us, most likely in May or June.  All of the testing she recommended can be done here at Texas Children’s Hospital, and we could send the results to them with the exception of the biopsy, which is a maybe (depending on how TCH acquires their biopsies or something).  But she admitted they really want to see her in person, do our DNA, etc., for research purposes. 

I keep thinking, maybe she holds the key to this disease somehow?  But then I keep thinking “why would she be so special as to hold the key?”  And then I go back to Abby and Ethan.  They wouldn’t pay for them to go with us to DC.  Do we want to leave them alone for that long with neighbors?  

We aren’t in a rush, but she asked to let her know early next week what we want to do…  What would you do in this situation?

I have so much going on right now that even slowing down to try and think of it all, my head is going to melt down.  So, I’ll just throw them out there.

1.  Because Hannah’s mutation combination has never been seen before, there is no way to determine if she is type 2 or type 3.  However, because she does have the mutation of D409H, literature has described this to be associated with cardiac problems so Hannah’s neurologist recommends that she should have a cardiac echo. He also recommends a brain MRI should be done at some point soon as a baseline. 

He also suggested to do a special skin biopsy study to try to differentiate between type 2 and 3. This may be the best way.  I contacted the geneticist at the National Institute of Health (NIH) he recommended, and we will take it from there.

2.  I heard from Dr. Ari Azhir from Neuraltus, the company that put out the press release last week regarding a possible new Gaucher’s drug.  Basically, she never did confirm it was for type 2 or type 3, but she did say “We understand that the drugs we are working on are of the greatest importance to you.”  So, I’ll just still HOPE that it is for GD2 or GD3.  She said she will keep in touch with me on their progress and, when they are ready, we will see if Hannah fits their criteria for a clinical trial.

3.  I need $500,000.   No, that is not a typo!  After the success Chris had with the NPC discovery below, I want to be able to put together a research team instead of just relying on a team that has been put together for multiple issues.  We need one team of researchers dedicated to thinking “outside the box” (as they did with NPC) and come up with SOMETHING for GD2 and GD3 either entirely new or to assist those few researchers out there who are actually working on GD2 and GD3.

But for now, I’ll keep working on my $10,000 goal by July 25 ($6600 to go) to help get the “mouse” finished so that researchers can start testing their ideas.    At least once we have that mouse that will be a HUGE step forward for GD2 and GD3 research!

Remember last week I said I wasn’t sure if I wanted to know the results of Hannah’s DNA sequencing? I guess “someone” heard me because, according to Dr. Schiffmann, one of the top GD23 neurologist, there is NOTHING in the literature that matches Hannah’s DNA mutation combination. NOT ONE PATIENT! He is going to ask his colleagues for their input as to how they think this will affect her, but for now, we are “inconclusive” on the type of GD she has and what her prognosis is.

The second mutation is common with type 3, one of the most severe types of type 3 (when combined with itself). However, we have learned that when combined with another mutation (such as in Hannah’s case), it can be type 2 or type 3, as it takes on a whole new identity.

So at this point, we don’t know what type she has. We may not know, especially if we are walking in unchartered territory now.

Always knew Hannah was a unique girl…

So the DNA sequencing results are in. Hannah’s genetics doctor couldn’t give us a “type”, however. She did give us confirmation of the first DNA mutation and gave us the second mutation as well. I’ve sent those off to Dr. Schiffmann, Hannah’s neurologist, to see if he could give us a “type” and the prognosis of other patients with this combination. We do know that this second mutation, very rare, is one of the more severe neuro types apparently (from what Hannah’s genetics doctor said), but we really have to see how it pairs with the other one (which we know is a type 1 mutation) to get an idea.

Dr. Schiffmann has been awesome at returning emails, so hopefully I will hear back from him tonight or tomorrow…