"Accumulate Beautiful Moments With Your Child And Family"

Sindhu Saiprasad from Ernakulam, Kerala talks about her son Nikhil who is on the autism spectrum and got a late diagnosis of a rare genetic disorder Fanconi Anemia and how that has impacted their lives.

Please tell us a bit about your child’s condition. 

Nikhil is a young adult who has autism with seizures. Until 18 years of age Nikhil was coping with the challenges of autism. He is partially verbal with need-based communication and was on seizure medicines from early childhood. However, he never got a tonic-clonic type seizure until the age of 17 yrs. When Nikhil was around 18, he had the new diagnosis of a rare genetic disorder known as Fanconi’s Anemia.(see box at the end of the article)

What were the early symptoms? What made you go to a doctor?

A year before the diagnosis he developed frequent mouth ulcers which made it difficult for him to eat food. Then a few complete blood profile tests were taken which revealed pancytopenia i.e. decrease in RBC, WBC and platelets. Even then the pediatrician we were consulting did not take up the matter seriously. Then in another 3 to 4 months Nikhil started losing a couple of kilos. He started losing appetite. There were sleep issues which he did not have earlier even as an autistic. He had vomiting also at times. Observing all these we summed up that he had some underlying issues and took him to a senior physician whom my mother in law was consulting. After seeing the blood reports and Nikhil in person, that doctor suggested a bone marrow aspiration and biopsy to detect the underlying cause of the peripheral symptoms. By then his counts had lowered from the normal healthy range.

What tests were done? How did the diagnosis come about?

The first tests done were bone marrow aspiration, karyotype, flow cytometry and biopsy. These are done by a single procedure in an Operation Theatre under local anesthesia. We were really worried before going for this procedure as Nikhil is a special child. We weren’t sure how to manage him under such circumstances but he was very cooperative and understanding.

These tests thankfully revealed that he did not have blood related cancers or Aplastic Anemia. However his result showed that he had a hypocellular marrow. The cause for this was a concern. At first the neurologist suggested that some genre of seizure medicines caused pancytopenia. Based on this hypothesis, we decided to taper the medicine he was on for many years and to replace it with another genre to see if that helped to enhance his counts naturally. If the pancytopenia was medicine induced then it would revive to the normal counts about three or four months after the med is completely discontinued but this did not happen in Nikhil's case.

We did not think of any genetic reasons as we were not consanguineous parents i.e., we were not close relatives.

What was your reaction to the diagnosis? 

Initially when the results of bone marrow aspiration and biopsy came to be negative we were extremely relieved to know Nikhil did not have any blood related malignancies but the cause for a hypo cellular marrow was still disturbing us.

 A friend who is a specialist in hematology, was actually our pillar of strength and guiding star through out our ordeal of finding the correct diagnosis. She was the one who first mentioned about Fanconi Anemia. I kept updating her with all the test reports and even sent recent photographs of Nikhil's face and palms. I read that people with FA had physical abnormalities of thumb, fingers microcephaly, short stature etc., some of which fit Nikhil. My friend was in a different city and hence guided us to consult a local Hematologist for further guidance and diagnosis.

What happened next? (specialist referral, course of treatment etc.)

We met three Hematologists in our city. We were not fully satisfied with the perspectives of the first two from big multi-speciality hospitals in Kochi.

It was the third Hematologist who upon seeing Nikhil instantly suggested the FA test. He told us to take the blood sample in person to CMC Vellore to get the Chromosome Breakage Analysis test otherwise called Stress Cytogenetic done.

It took two months for the blood report to be dispatched and those two months were the most crucial period of our lives. We imbibed strength through prayers to God, talking to dear friends and close relatives to face whatever the reality was.

Nikhil realized that some health issue was hindering his daily activities like going to school. We explained in a positive way that the reason for his health issues would be detected soon and once treatment starts he would be better. All this happened in 2019. One whole year has passed since he had not attended school due to suppressed immunity. His diagnosis of Fanconi’s Anaemia happened in Nov 2019. Though we were by then more or less prepared to take the result, still it was devastating to hear about its manifestations in the second decade of his life. That was the reason he got blood count issues after 18 years. The doctors at CMC explained to us the gravity of the situation and how things would turn out in another decade. FA being a progressive disorder with no cure to date other than management through medicines. For bone marrow deterioration and failure one can resort to bone marrow transplant, but in FA even that is not effective.

The doctors said this could never be done for Nikhil because of his autism and seizure disorder making it too risky and fatal to cope with the tedious procedures of bone marrow transplant. Almost five doctors including the physician and neurologist were of the same opinion. The doctors at CMC Vellore prescribed anabolic steroids to enhance the counts and functioning of his hypocellular marrow. There were no other alternatives. CMC Vellore is also a research Centre for blood disorders and all genetically induced health issues in general. The doctors assured that research is progressing especially related to FA and probably they would come up with effective management and cure for it and to expand the life span of patients with FA.

I feel Nikhil is one unique case of an individual with autism seizure and FA, maybe in whole of India. I do not know if there is another FA patient with autism and seizure disorder which would make the treatment even more demanding and challenging.

We are following the treatment of CMC Vellore here at Kochi. The third hematologist that we met, who had referred us to CMC has taken the huge responsibility of treating and managing Nikhil’s bone marrow issues due to FA.

What is his present condition?

At present his health is better and he has been responding well to medicines. His counts have relatively improved to the normal range. He does not have mouth ulcers now. His appetite has improved and he has put on weight. But due to FA, Nikhil is a small built person, he was small at birth with low birth weight and an IUGR baby. Now as a young adult too his physique is small built with height and weight lesser than his age.

He is comfortable now with his seizures managed, sleep issues addressed, relishing his food and enjoying his time with art and music. The lockdown period was actually a blessing for us so that as a family we could be together and take care of Nikhil. The only thing that we miss during this pandemic is our weekend outings, dine outs, our small picnics to nature spots but we don’t want to take any risks.

Nikhil has struggled a lot and with relentless therapies & training he is now able to handle need-based verbal communication him in his mother tongue Malayalam and in English. He can read and write independently. He has completed NIOS A B C levels. When he had enrolled to give his 10th board through NIOS, he fell sick and could not even go to school for one full year. He is a self taught keyboard player and digital artist. In 2020 his paintings were selected for two international platforms.

Autism has never been a limitation for him.  During his treatment for FA, he has shown unparalleled warrior instincts during the time of testing and hospitalizations. He exhibited a lot of courage, resilience and understanding which we we had not expected.

Are there any complications from the primary condition?

Complication may arise if Nikhil gets any severe infection which automatically would decrease his counts and compromise his immune system. We have to be extra cautious that he never contracts any infection and that is a huge herculean challenge during these tough pandemic times.

Being a progressive disorder anytime his bone marrow functioning can go haywire and this can be only prolonged by the medicines taken but unfortunately cannot be stopped. Not even the doctor can predict or decide when this would start posing challenges.

In time his hypocellular marrow, which is currently managed by medicines will start deteriorating leading to MDS and AML and a total failure. The sequence of this happening can be determined only by God and his plans. We have just surrendered to him and accepted his course of action and decision.

Have you tried complementary medicine or therapies, like homeopathy or ayurveda? If yes, did it help?

No, we haven’t tried any other alternative medicines as it would all complicate the situation and there are no evidence based data available. Right now he is better than we had expected with the allopathic medicines administered.

What medications is he currently on?

• Stanazarol (Menabol) is the main medicine taken for improving the cellular production of his bone marrow . His mouth ulcers have also subsided and that was a great relief for him as he was able to eat food properly
• Other than that he is taking anticonvulscant (Lacosamide and Lobazem) for his seizures.
• Omnipresol Domperidone (SRD) combination for his acid reflux issues and multivitamin.

Were there any side-effects of the medicines? If yes, how do you manage them?

During 2019 when he was sick he had lot of sleep issues which were still there as he was taking steroids. The steroids also triggered the occurrence of seizures and that was the concern in 2020 during the lockdown period. On taking the steroids Nikhil ‘s aggression increased to an uncontrollable level. Prior to that he had been able to self regulate with no tantrums or agitation. Then his seizures also got triggered. He had almost 7 or 8 episodes of seizure attacks during the lock down and we got extremely worried about that. These were addressed by taking Quindipin which has reduced his anxiety and helped him to sleep better.

We kept having review consultations with his Neurologist who treated his seizure part and Hematologist who took care of the bone marrow issues. Then a comprehensive schedule of the medicines helped him find balance and solace.

What kind of specialists (including Physio/ Occupational therapist/ Psychiatrist etc.) do you consult and how often?

We consult a Hematologist, Neurologist, Physician and Gastroennterologist on a bimonthly basis.

By God’s grace, he has been keeping good health throughout this pandemic time because of all the extra precautions and care we gave.

Did you have to travel outside your city for medical treatment or consult?

No, since all good specialists are available in Kochi. Only for the initial diagnosis of FA we went to CMC Vellore once.

Do you have a family history of this condition? Is it an inherited disorder? Was genetic testing done?

No, we don’t have a family history of FA from both our families in last three or four generations. We do not know before that. We are from totally different families. We are not consanguineous.

Have you learnt anything in managing this condition that you wish you knew before?

We feel if we had known he had this condition via a genome test, we would have avoided the worrying of all these years. However, the onset and manifestation of FA is programmed and exhibits in course of time which no treatment or medications can stop. Hence, knowing earlier would not have made any difference.

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What changes have you and your spouse made to your lifestyles because of this condition?

Now in this time of pandemic we have totally reduced all kinds of outings, dining out, going for functions with Nikhil and avoid all crowded places. Otherwise we used to take him for all functions events, public places, eateries etc. We are not using public vehicles now. Since 2020 March we haven not travelled anywhere.

How did you emotionally cope with it all? 

We were going through a roller coaster ride already in 2018 when my mother-in-law who has been with us for almost 18 years fell sick and was bedridden due to age related ailments. It was tough with a special needs child at home and adapting to such situations. By the end of 2018 Nikhil developed his health issues and 2019 was a very terrible time with him being hospitalized. Amma’ s condition got worse and it was difficult to take care of her at home conditions with just a nurse as her right side was paralyzed, she had memory and speech loss along with bed sores. My husband was her only child and hence there was no sibling support.

At times, my aging parents came and supported us.

Only after my mother in law was moved to a hospice care, were we able to travel to CMC Vellore for Nikhil's diagnosis. There could not be a more difficult situation than this in life. It is said that misfortunes never come alone.

Our support system

My spouse and I are the biggest support and companion for each other. We would sit and discuss for hours, vent out, cry and hug. My parents, brother and family, best friends from Moms group and my best school friends who are all at distant places supported me through WhatsApp and personal calls. A few of my close relatives like aunts and cousins gave the moral support during those turbulent times.

Did you see a counselor for support? Were you offered counseling by your doctor?

No, we did not see a counselor.

But the counselling was done by his neurologist and physician who put things in realistic terms without giving us unnecessary hope but allowed us to accept the truth and to reconcile with it.

When did you break the news to your parents, friends and distant relatives? How did they take it?

Once the diagnosis of FA was confirmed, we broke the news. Only to people who understood about FA we explained. To all others we said he had a blood disorder. It was difficult for everyone to take it.

Did you inform your child’s school? If yes, How did they handle it?

Yes, we informed the school and the principal. Teachers and parents of other special needs children were all supportive and understanding. Now since his diagnosis in 2019, and then the pandemic, he has not attended school.

What were some of the challenges you faced?

The prime challenge that we faced were with these health issues in a child who could not communicate his feelings or emotions like a neuro typical. However Nikhil is very resilient and our close bond helped understand his difficulties even without any verbal communication. He can indicate pain. His restless nights without sleep and his recurrent seizures were another challenge to deal with. Observing him and getting timely medical help has proved to improve his health.

What is your advice to patients who face similar challenges?

Please watch and observe your child. If he/she is a neuro typical, things are easier as you can converse and understand their problems. When it is a special child, things are more complicated. You need to understand the intrinsic and invisible symptoms by observing your child during such challenging health issues. Please don’t lose your calm and cool. Derive strength through prayers, taking to positive vibe people, being with your close friends, enjoying your passion other than brooding over things that you have no control and can’t change. Use your life for the best of your child, slow down, derive happiness even from small things and moments.

Try to accumulate beautiful experiences and moments with your child and family.

Are you worried about for the future?

FA is a disorder which still does not have a cure. In India even the management of the complications manifested by this genetic disorder are not on par with other developed countries, my only prayer and worry is that my son should not suffer the extremities of the progression this disorder brings.

As a parent who has completely understood what Fanconi’s Anemia is and the risks and fatality that it imposes, I am not praying for the long life of my son but only that he should not undergo any suffering.