Father of two son's diagnosed with ALD

[aadilmadarveet]

I came here through aldconnect.org.

I have two son's. Both of them are diagnosed with ALD. I came here looking for other people's experiences going through this.

[fightald Partner]

Are you on Facebook? There is a good group there for ALD newborn families as well. If you give me your name I can send you an invite to the group.

[aadilmadarveet in reply to fightald]

Yes.

Thanks for your help.

my facebook URL is facebook.com/aadil.madarveet

[Rosita5]

We were identified through the newborn screen in California. My son is one year old, so we are fairly new to this journey. We have seen several specialists at the local children's hospital and at Stanford Children's Hospital. My son's first MRI was normal and his adrenal tests came back abnormal recently.

I read your other posts and seen you will be doing a bone marrow transplant, have you heard of gene therapy? I don't know if they are still enrolling in the current trial, but I know there is supposed to be another trial next year too.

[aadilmadarveet in reply to Rosita5]

Thanks for the reply.

I am sorry to hear about your son. I hope he gets well soon.

I did read about gene therapy and followed up with a hospital in Boston. But unfortunately, i was late in diagnosing this and the loes score for my son was higher than the threshold the study has for taking patients in. My son has a loes score of 9.5 and they said they take patients with loes score below 9 only. So, the only option i have is bone marrow transplant to halt the disease progression.

I do not live in USA. I am from Bangalore India. The awareness of this disease in here is not at all there, people don't even know what ALD is, most of them. I have spent over an year to find a hospital where i can find a doctor who has knowledge of this disease and is willing to take my son in for the transplant.

We will be having the transplant done this month.

Thanks,

Aadil

[Rosita5 in reply to aadilmadarveet]

I am terribly sorry his loes is so far advanced. Luckily, you’ve caught it and there is hope.

We seen Dr Ami Shah, a bone marrow transplant doctor, and Keith Van Heran, a neurologist, at Stanford Children’s Hospital.

[Kushalr7 in reply to aadilmadarveet]

Hi aadil

Good Evening

Myself Kushal from India.

My daughter who is 2.6 years old is suffering from leukodystrophy disease. This disease is identified on 2nd week of January 2019 thr brain and spine MRI. But no doctor is telling the type of leukodystrophy. Is this ADL will come under this zone. How to identify the type

History of the patient.

My daughter was born in 29th August 2016 through seizerien delivery. I am married close relative girl only (married within the family) She was very health and doing all her activity as per the regular children's.

From November 2018 she started shaking her left leg everyday as soon as she waked up from the bed in the morning, after some times she used to be normal with walking run and playing without any hurdles.

But from December she started shaking her hips also along with left leg and struggling very much to stand and walk. We consulted the doctor and doctor declared that this is leukodystrophy disease and there is no cure in India.

Now some times she will walk for few steps by supporting hands and she will try to stand on the same but not more than few minutes suddenly she will collapse

So I hereby seeking your help and with lots of hopes I am writing this e mail and this request will be considered and revert back with the corresponding treatment and contacts to come out of this issue

Pls consider this as an emergency and help in this regard and do the needful

Below is my contact details Pls for call send me mail so that I can discuss personnelly

Regards

Kushal

9739568283

[e-mail]

[e-mail]